Abstracts from the Twenty-Second Annual Education Conference of the National Society of Genetic Counselors (Charlotte, NC, September 2003).

P1: GCR/JLS Journal of Genetic Counseling [jgc]

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C 2003) Journal of Genetic Counseling, Vol. 12, No. 6, December 2003 (°

Abstracts From the Twenty-Second Annual Education Conference of the National Society of Genetic Counselors (Charlotte, NC, September 2003) Noelle R. Agan1 and Shannan M. DeLany2,3 Abstracts have been arranged by the Abstract Committee into the following categories: I. II. III. IV. V. VI. VII. VIII. IX.

Award Papers Adult Cancer Genetics Counseling and Psychosocial Issues Education Genetic Testing Pediatrics Pre/Perinatal Genetics Professional Issues I. AWARD PAPERS The Beth Fine Kaplan Student Abstract Award

Development and Evaluation of a Preconception Genetic Risk Assessment Questionnaire for Reproductive Endocrinology and Infertility Practices K. Masterson, L. Black, S. Brewster, M. Soules, and N. McIntosh Brandeis University, Waltham, Massachusetts Clinicians who work with couples seeking treatment for infertility can positively affect pregnancy outcomes by providing preconception care including a 1 St.

John’s Mercy Medical Center, St. Louis, Missouri. College of Georgia, Health Inc., Augusta, Georgia.

2 Medical

3 Correspondence should be directed to Shannan M. DeLany, Department of Pediatric Genetics, Medical

College of Georgia, Health Inc., 1446 Harper Street, BG 1071, Augusta, Georgia 30912; e-mail: [email protected]. 459 C 2003 National Society of Genetic Counselors, Inc. 1059-7700/03/1200-0459/1 °


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genetic risk assessment. Identifying genetic risk factors prior to pregnancy provides the opportunity for genetic counseling and allows couples to make informed reproductive decisions. The patient questionnaire is a commonly used tool for genetic risk assessment in reproductive endocrinology and infertility (REI) practices. Currently, however, there is no consensus regarding what should be included on such a questionnaire and as a result significant genetic risk factors may be missed. The goal of this project was to develop a genetic risk assessment questionnaire (GRAQ) to be used in REI practices that would appropriately identify patients for genetic follow-up. After reviewing 23 GRAQs used in REI practices and completing a literature review of current genetic screening guidelines, we developed a project genetic risk assessment questionnaire (PGRAQ). Reproductive endocrinologists and genetic counselors were invited by e-mail to review and evaluate the PGRAQ by completing an online survey. E-mail addresses for reproductive endocrinologists were obtained from the Society for Reproductive Endocrinology and Infertility and American Society of Reproductive Medicine online directories. Genetic counselors who were members of the Assisted Reproductive Technology and Prenatal special interest groups through the National Society of Genetic Counselors were contacted via listserv. A total of 95/592 (16%) of reproductive endocrinologists, and 34 of the genetic counselors who were contacted through the listservs, completed the feedback survey. Overall, the PGRAQ was highly rated by both groups. Of note, 88% of genetic counselors indicated that the PGRAQ was comprehensive enough to appropriately identify REI patients for a genetics referral and 82% indicated that reproductive endocrinologists could easily identify appropriate genetics referrals, using this tool. seventy-three percent of reproductive endocrinologists reported that the PGRAQ was more comprehensive than the form they currently use, and 86% stated that the PGRAQ would be appropriate for their practices. In conclusion, the PGRAQ was thought to be a potentially useful and appropriate tool by both reproductive endocrinologists and genetic counselors. Feedback on the PGRAQ from both groups was used to revise the questionnaire to produce a final GRAQ. We believe the final GRAQ may be a useful tool for reproductive endocrinologists to assess genetic risk and facilitate appropriate referrals. Additionally, this revised GRAQ may be a first step in developing a consensus guideline for REI practices. KEY WORDS: risk assessment; infertility; patient questionnaire; preconception.

Best Submission by a Full Member of the National Society of Genetic Counselors CDKN2A Carrier Probability Scoring System for Hereditary Melanoma Risk Assessment K. B. Niendorf, G. Yang, J. Fullerton, K. Tsai, D. W. Bell, A. J. Sober, D. Hogg, and H. Tsao Center for Cancer Risk Analysis, Massachusetts General Hospital, Boston, Massachusetts


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Models frequently are used in cancer genetic counseling to estimate the probability of an individual being a carrier of a mutation in specific cancer susceptibility genes. Although mutations in the gene CDKN2A are known to cause a significant proportion of hereditary melanoma, no model yet exists to predict the probability of germline CDKN2A mutations in at-risk individuals. On the basis of our experience with genetic counseling within a large pigmented lesion clinic, we have devised a CDKN2A Carrier Probability Score (CCPS) to triage patients into carrier probability strata in order to provide risk assessment for familial melanoma. While mutations in CDK4 are also linked to hereditary melanoma, mutations are quite rare and thus our model is based on CDKN2A risk. Consecutive patients in a hospitalbased melanoma clinic were screened for family history of melanoma as part of the appointment intake process. If the patient had a personal and family history of melanoma or had multiple (three or more) primary melanomas, they were referred for genetic counseling. A 4-generation pedigree was taken by the genetic counselor on each participant and a total CCPS was assigned on the basis of the number of histologically confirmed primary melanomas in the proband (1 point each), number of affected relatives (1 point each), and age of onset (1 point if 5 had documented CDKN2A mutations. The positive trend between prevalence of CDKN2A mutation and CCPS was strongly significant ( p = .000018). No participants had CDK4 mutations. We also found a novel, presumed deleterious, Met53Val germline mutation in one participant. Based on pedigree analysis, the CCPS is a simple method of estimating CDKN2A carrier probability. CCPS could be used for triaging patients for genetic counseling referral as well as for risk assessment during genetic counseling. KEY WORDS: genetic counseling; hereditary cancer; melanoma; risk assessment.

II. ADULT Does Perceived Imminence of Alzheimer Disease Onset Increase Anxiety and Depression? T. Brown, J. Roberts, M. Barber, S. LaRusse, and R. Green Boston University School of Medicine, Boston, Massachusetts The REVEAL Study (Risk Evaluation and Education for Alzheimer’s disease) is the first randomized trial to examine the impact of providing risk assessment,


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including Apolipoprotein E (APOE) genotyping, for Alzheimer’s disease (AD). Asymptomatic adult children of AD patients are randomized into either one arm where risk assessment is based upon age, gender, and APOE genotype, or a control arm in which risk assessment is based only upon age and gender. Trained genetic counselors communicate these risks (with APOE disclosure) and follow participants carefully to determine the psychological and practical impact of this information. During disclosure and follow-up sessions, many participants expressed the beliefs that 1) they were likely to some day develop AD regardless of the % risk that they were quoted in the study and (2) their own disease course would parallel that of their affected parent. For example, one 58-year-old participant whose mother developed AD at age 62 said, “I figure I have 4 good years left before I start to deteriorate.” Such examples led us to hypothesize that participants who were closer to the age at which their parent became affected would report higher levels of depression and anxiety during the course of the study. Of 149 randomized participants, 17 were within 10 years of the age at which their parent developed AD. This cohort was designated as “Imminent.” The mean age of imminent study participants was 64.2 years while the mean age of their parents’ AD onset was 69.2. We compared imminent vs. nonimminent participants on both quantitative and qualitative outcome variables including the Center for Epidemiological Studies—Depression Scale (CES-D), Beck Anxiety Inventory (BAI), Impact of Event Scale (IES), and study questionnaire items such as “I am worried that I will develop AD.” On the CES-D scale, mean baseline scores for the imminent vs. non-imminent groups were 6.1 and 6.1, respectively, while 6-week follow-up scores were 9.5 and 8.7. None of these differences were statistically significant ( p > .05). Baseline BAI scores were 5.9 for imminent participants and 4.0 for non-imminent, while follow-up scores were 5.4 and 4.3. Again, these differences did not reach significance ( p > .05). Similarly, no significant differences were found between the groups for IES scores or qualtitative answers. Moreover, the vast majority of participants scored well below the cutoffs for clinical significance on all validated scales. Our preliminary findings suggest that perceived imminence of AD onset does not translate into higher levels of depression and anxiety. Further analysis will be helpful as more participants complete the study and our “n” for this evaluation increases. KEY WORDS: Alzheimer’s disease; perception.

The Influence of Family History Information in Determining Preventative Measures for Patients With Early Signs of Coronary Artery Disease H. Cope, C. Wolpert, S. Estabrooks-Hahn, W. Kraus, and N. Callanan University of North Carolina at Greensboro, Greensboro, North Carolina While enthusiasm about pedigree applications in primary care is understandable, the clinical utility of this tool remains to be demonstrated scientifically. The


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primary purpose of this study was to investigate the influence family history information has on determining prevention and diagnostic recommendations for patients with symptoms suggestive of coronary artery disease (CAD). In addition, this study compared the format in which family history information is presented. CAD was chosen as the disease model for this study because a family history of CAD is one of the strongest independent risk factors for developing CAD. This study was completed by means of a between-groups design. Health care professionals including physicians and physician assistants served as the participants. A website titled “Exploring Treatment Recommendations” was created to allow participants to complete an online survey. Participants completed 1 of 3 case scenarios, which described the same hypothetical patient with early signs of CAD. The 3 scenarios provided differing amounts of family history information for the patient. Scenario 1 provided no family history information, Scenario 2 provided written family history information, and Scenario 3 provided complete family history information illustrated in a pedigree. Included at the bottom of each scenario was an identical ordered list of 20 diagnostic and preventative measures, most of which are often recommended for patients with early signs of coronary artery disease. The participants were asked to check all the measures they would recommend for the hypothetical patient. We were interested in determining if the response distributions of each recommendation differed with respect to the amount of patient family history information provided. A modified chi-square test was used to analyze the data. The results from this study are not significant enough to conclude that varying amounts of family history result in different recommendations made by health care professionals. Health care professionals were more likely to prescribe medication to relieve angina when given a written family history than when given no family history or a pedigree. In the presence of a pedigree, health care professionals were also more likely to counsel the patient regarding changes in lifestyle and refer the patient to a dietitian. When a pedigree was provided, more cardiologists indicated that they would counsel the patient about changes in lifestyle, prescribe aspirin, and perform a stress sustimibe. Further research needs to be conducted in order to realize the potential utility of family history information in primary care. KEY WORDS: coronary artery disease; family history; pedigree; primary care.

Patient Perception of the Efficacy of ReplagalTM Enzyme Replacement Therapy in Fabry Patients With Renal Transplants and End-Stage Renal Disease K. Crandall and E. Boyd Fullerton Genetics Center, Asheville, North Carolina Fabry disease is a rare X-linked lysosomal storage disease that is caused by deficient activity of the lysosomal enzyme, α-galactosidase A. Clinical symptoms


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include recurrent episodes of acute episodic pain (called “Fabry crises”), as well as chronic neuropathic pain, intolerance to heat and cold, hypohidrosis, postprandial pain, abdominal cramping, nausea, diarrhea, fatigue, early ischemic attacks, coronary artery disease, vascular abnormalities, dysrhythmias, and renal insufficiency. Because there is no current cure for the disease, the age of death is typically in the fourth or fifth decade. Recent efforts have been made by biotechnology companies to create a therapy that would reduce morbidity and mortality. Enzyme replacement therapy (ERT) has achieved the greatest progress compared to various other therapies under investigation thus far. While clinical research trials have suggested that ERT will in fact stabilize and/or improve renal and cardiac function, it is important to assess that quality of life is also improved with respect to diminished severity of symptoms. The Fullerton Genetic Center is part of a national multicenter clinical research trial to study the safety and efficacy of ReplagalTM, produced by Transkaryotic Therapies, Inc. We have been following 3 patients who have been receiving ReplagalTM: 2 patients have had renal transplants (1 male and 1 female), and one patient is in end-stage renal disease (ESRD) and currently on dialysis awaiting a renal transplant. All 3 have reported an improvement in gastrointestinal symptoms. For 2 patients these symptoms, particularly episodic unpredictable diarrhea, had significantly impacted their daily quality of life, affecting their ability to plan their daily schedules or to consider gainful employment. One transplant patient had anticipated a need to go back on dialysis due to declining renal function, but instead has experienced a stabilization of his renal function over the past 5 months. In addition to an improvement in GI symptoms, all report a regained ability to sweat. While this case report describes only 3 patients on ERT, their perceptions are encouraging as little data exists in the literature on ERT and transplant or ESRD patients with Fabry disease. The specific improvements they describe play a tremendous role in quality of life, which will be vital to the true success of ERT. Several of our patients have clearly indicated they do not wish to receive life-prolonging therapy if they will continue to experience symptoms that diminish enjoyment of daily living. KEY WORDS: enzyme replacement therapy; fabry disease.

Male Genetic Infertility: Findings From 5 Years of Genetic Counseling and Testing K. Danziger, L. Black, and P. Turek University of California – San Francisco, San Francisco, California Male-factor issues contribute to half of all human infertility, and genetic etiologies explain many such cases. Men with nonobstructive azoospermia (0 sperm count) or oligospermia (25% a priori risks of the familial mutation were invited to be tested. The BRCA1 program was a collaborative effort with University of Pennsylvania. Fifty-two individuals in 17 families underwent BRCA1 testing and 32 individuals in 11 families underwent p53 testing. Cancer family histories were collected from each participant (pt) and compared to known confirmed cancer diagnoses. This analysis was restricted to the 191 confirmed diagnoses in FDRs and SDRs and the 19/53 (36%) BRCA1 pts and 30/32 (94%) p53 pts for whom at least 1 relative’s diagnosis was confirmed. BRCA1 pts were more accurate in naming the site of cancer among FDRs and SDRs combined than p53 pts (78% vs. 52%, p ≤ .05). This was true when considering FDRs only (94% vs. 67%, p ≤ 0.05) and SDRs only (67% vs. 36%, p ≤ 0.01). Almost all FDRs and SDRs with breast cancer were correctly identified (97% in BRCA1 and 100% in p53). Since breast cancer cases accounted for 59% of cancers in BRCA1


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families compared to only 20% in p53 families, this may explain the differences in overall accuracy. BRCA1 pts could identify 74% of relatives with ovarian cancer, but p53 pts could identify only 56% of relatives with other LFS-related cancers. Historians had greater accuracy if they were in a BRCA1 family, female, more educated, closely related to affected relative (FDR vs. SDR), and had fewer than 5 affected FDRs and SDRs. We also assessed whether, in the absence of a known mutation, inaccurate pt histories would have altered genetic testing options. For this analysis, we focused on 27 BRCA1 pts and 24 p53 pts whose confirmed histories met criteria for testing. Despite minor inaccuracies in verbal histories, all 24 (100%) BRCA1 pts would have been offered BRCA1/2 testing. However, only 10/24 (42%) of p53 verbal histories still met criteria for Li-Fraumeni syndrome and would have been offered p53 testing. Our data indicates that individuals presenting for genetic testing are less accurate when reporting nonbreast cancer diagnoses, confirming the importance of documentation. However, it may not be necessary to confirm breast cancer diagnoses, particularly for FDRs, when pts can describe their relative’s diagnosis and treatment. The poorer recounting of nonbreast cancer tumor types may lead to an underrecognition of cancer syndromes characterized by rare tumors. KEY WORDS: BRCA; risk assessment; family history; Li-Fraumeni syndrome.

The Hereditary Nature of Prostate Cancer: What a Patient Needs to Know A. Schwab, A. Turner, S. Eubanks, and C. Skrzynia The University of North Carolina at Greensboro, Greensboro, North Carolina With roughly a 1/10 chance to develop clinical prostate cancer in a man’s lifetime, the medical community and society at large could benefit from the ability to detect and treat men at an increased risk to develop the disease. An inherited predisposition to prostate cancer is known to be the greatest risk factor to develop the disease. Recent research has found that men do not know their risk of developing prostate cancer even if they have a strong family history of the condition. Thus, a public campaign may be to their benefit. The aim of this project was to simultaneously raise awareness of hereditary prostate cancer and determine if prostate cancer survivors feel they should be given this information. To accomplish these tasks, an educational presentation was developed and given to 4 prostate cancer support groups in North Carolina in the winter of 2002. A survey was designed to determine the participants’ interest in the information being presented. These surveys were administered immediately following the presentations. The participants were given handouts detailing the main statements in the presentation and encouraged to share them with friends and family members. There were a total of 66 completed surveys. All of the respondents indicated that men with prostate cancer should be informed about hereditary prostate cancer. All but 2 of the men


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indicated that they were going to share this information with at least 1 other family member. The 2 most common ways men wanted to receive information regarding hereditary prostate cancer was at a support group (29%) or by their doctor (22%). Hearing this information from a geneticist or genetic counselor accounted for less than 3% of the responses. These results indicate that the respondents felt a family history of the condition should impact health care decisions and that information on hereditary prostate cancer should be provided to men with prostate cancer. Interestingly, these men indicated that they would prefer to hear this information from a source other than a genetics professional. There still may be some confusion in this population about the role of a genetics professional in prostate cancer health care or there may be a taboo that only people with “bad” family histories should see these professionals. Future research should investigate the reasons behind their reluctance to see a genetics professional about this condition. KEY WORDS: genetics; predisposition; prostate cancer; public campaign.

A Description of the Screening, Uptake of Prophylactic Surgery, and the Breast and Ovarian Cancer Diagnoses in Women Who Carry a BRCA1 or BRCA2 Mutation J. Sekhon, M. McCullum, C. Kim-Sing, and J. Scott University of British Columbia – Hereditary Cancer Program of the British Columbia Cancer Agency, Vancouver, British Columbia The lifetime risk of developing breast cancer or ovarian cancer for women with a BRCA1 or BRCA2 mutation is 60–80% and 15–60% respectively. Highrisk women are presented with recommendations for breast and ovarian cancer screening and the option of prophylactic surgery. Breast cancer screening includes monthly breast self-examinations (SBE) by age 20, semiannual clinical breast examinations (CBE), and annual mammograms beginning 5–10 years younger than the earliest diagnosis of breast cancer in the family and not before the age of 25. Screening for ovarian cancer includes semiannual pelvic examinations and CA125 testing, and annual transvaginal ultrasounds beginning 5–10 years younger than the earliest diagnosis of ovarian cancer. High-risk women also have the option of prophylactic bilateral mastectomy (PM) or prophylactic oophorectomy (PO). This study aimed to describe the breast and ovarian cancer screening and uptake of prophylactic surgery before and after testing positive for a BRCA mutation, by women who did not have a previous history of breast or ovarian cancer. Sixty-three eligible participants who had genetic testing and counseling at our center were sent a questionnaire that asked about past and current methods of screening, prophylactic surgeries, and cancer diagnoses. Forty-seven women responded (75%), mean age of 37 (range, 21–57) with a mean follow-up of 3 years (range, 1–5). Chart review was done to confirm prophylactic surgeries undertaken and cancer diagnoses. Forty-one of the 47 participants (87%, p < .001, 95% CI, 36–48) reported


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a change in their breast and ovarian screening practices post-BRCA testing. Thirtyfour percent of participants opted for PM and 38% opted for PO. All PO and 75% of PM were performed after BRCA testing. Amongst women who did not opt for prophylactic surgery there was a significant increase in the number of women undertaking SBE, CBE, mammogram, transvaginal ultrasound, and CA125 testing post-BRCA testing, but not for pelvic examination. For only SBE and mammograms was there a significant portion of women doing the screening modality in accordance with guidelines post-BRCA testing, indicating a need for further exploration of the factors related to compliance to recommended guidelines. Women were less likely to adhere to ovarian screening guidelines, which may reflect the low sensitivity and specificity of ovarian screening. Two participants were diagnosed with breast cancer. Both cases were detected by mammography. One of these 2 women had a PO and subsequently was also diagnosed with peritoneal cancer. These results suggest that BRCA testing and the accompanying genetic counseling leads to a change in the health care choices of women at hereditary risk for breast and ovarian cancer. KEY WORDS: BRCA; cancer screening; hereditary cancer; ovarian cancer; prophylactic.

Uptake of BRCA1 Rearrangement Panel Testing in Individuals Previously Tested for BRCA1/2 Mutations K. M. Shannon, G. C. Smutko, K. B. Niendorf, and P. D. Ryan Center for Cancer Risk Analysis, Massachusetts General Hospital, Boston, Massachusetts Individuals undergoing genetic testing for BRCA1/2 mutations are routinely counseled about the sensitivity of testing. Specifically, individuals receiving an uninformative negative (UN) result after pursuing full gene sequencing are counseled that certain mutations in the gene (e.g., large genomic rearrangements, mutations in noncoding sequence) could be missed with sequencing technology. In August 2002, testing for 5 large genomic rearrangements common in individuals of Dutch/European descent, which would not have been detected with previous full gene sequence analysis, became commercially available. We were interested in the number of our previously tested patients that would pursue this further analysis. In March 2003, 74 letters were mailed to individuals who previously received a UN (N = 64, 86.4%) or variant of uncertain significance result (N = 10, 13.5%) from BRCA1/2 full gene sequencing. The letter indicated that current data suggest that sequencing may miss up to 15% of alterations in BRCA1/2, and that further analysis was now available to detect some of these alterations. The letter explained that studies indicate that this further analysis (BRCA1 Rearrangement Panel testing) detects an additional 2–3% of alterations. It reported that the cost was $325, which may be reimbursable by insurance. Finally, the letter explained that this


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testing may not be indicated for all families, but encouraged each individual to call for further information, if interested. Of the individuals receiving a letter, the majority (97.3%) were females. Only 4 (5.4%) reported that they were not of European or Dutch ancestry at the time of initial testing. Sixty-three (85.1%) had a previous diagnosis of invasive breast cancer (N = 42), DCIS (N = 7), bilateral breast cancer (N = 6), ovarian cancer (N = 7), or both breast and ovarian cancer (N = 1). BRCAPRO scores for the cohort were calculated using CaGene 3.3.1 and the average prior probability of harboring a germline BRCA1/2 mutation was 16.2% (range = 0.2–96.4%). Six weeks after the letters were mailed, one letter was returned with no forwarding address. Only 4 (5.5%) women have called to request information about further testing: all chose to seek insurance coverage for the BRCA1 rearrangement panel and have received coverage at 100%. Three of the 4 had a previous diagnosis of invasive breast cancer or DCIS (BRCAPRO scores = 0.9, 2.4, and 65.3%) and one had a family history of breast cancer only (BRCAPRO score = 3.1%). Our experience suggests that only a minority of individuals who previously received a UN or variant test result will seek further analysis for large BRCA1 genomic rearrangements. Further studies are needed to clarify factors that impact this decision. KEY WORDS: BRCA; breast cancer; predisposition testing; ovarian cancer.

IV. COUNSELING AND PYSCHOSOCIAL ISSUES Advice Giving, Information Provision, and Nondirectiveness in Genetic Counseling: A Qualitative, Comparative Study of the Perceptions of Patient and Counselor J. Austin, C. Chijiwa, and L. Arbour Department of Medical Genetics, Children and Women’s Health Centre of British Columbia, Vancouver, British Columbia Despite the general consensus within the genetic counseling community that nondirectiveness should be an integral component of the genetic counseling session, there is no clear understanding of exactly what this entails in practice. It is currently unclear how advice giving and the provision of information relate to patient and counselor perceptions of nondirectiveness. The purpose of this study was to gather preliminary data in on the roles and perceptions of advice giving, and information provision, and their relationship to nondirectiveness in the genetic counseling process from both counselor and patient perspectives, as well as to see how this advice or information affected the patients’ decision-making process. A qualitative study design was chosen. Twenty-two prenatal patients who were eligible for amniocentesis completed 2 questionnaires, 1 prior to their appointment, the other after the appointment. The 9 counselors for these 22 patients completed


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a questionnaire after the session for each patient. The questionnaires from patients and corresponding counselors were compared to each other and themes were identified. Statistical analysis was not appropriate due to the limited sample size. All patients felt that they benefited from their sessions. Fifteen of 22 patients wanted or asked for advice. However, only 5 of 22 patients felt that they got any kind of advice. Eighteen of 22 patients had made their decision about whether or not to have an amniocentesis before the session, and 3 of these changed their minds after the session. Of the 22 questionnaires completed by counselors after the sessions, there were 10 reports by counselors that they had an opinion about what their patient should do, 5 patients correctly identified that opinion. Four counselors thought that they were somewhat directive, all of these counselors gave examples of directiveness that were information statements. These data indicate that counselors are concerned that the provision of information may be interpreted by patients as directive. While in general, it seems that this concern is unfounded, it appears that a minority of patients do see information as advice. This study shows that counselors and patients have different expectations of genetic counseling. A majority of patients want advice during their genetic counseling sessions (including those who have already made a decision), and a similar proportion of patients do not feel that they receive any. Furthermore, these data tentatively support the notion that advice can be given nondirectively, in that patients who reported receiving advice do not appear to interpret the counselors’ advice as threat, deception, or coercion. KEY WORDS: nondirectiveness; perception; qualitative.

The Relative Meaning of APOE Genotype Versus Risk Assessment for Alzheimer’s Disease Among Participants in the REVEAL Study M. Barber, P. Whitehouse, H. Lindstrom, S. Roberts, S. LaRusse, T. Brown, H. Katzen, N. Relkin, and R. C. Green Case Western Reserve University/University Hospitals of Cleveland, Cleveland, Ohio As knowledge of the sequence of the human genome grows, so does our ability to identify and test for “susceptibility genes.” As genetic counselors, our role is not only to transfer this type of information to our clients but also to help them understand the meaning of the information as it relates to their own personal risk. In the REVEAL study (Risk Evaluation and Education in Alzheimer’s disease), participants receive their APOE genotype and then receive a lifetime percent risk estimate for developing Alzheimer’s disease (AD) based on family history, gender, and APOE genotype. To assess the relative meaning of learning one’s APOE genotype as compared to learning one’s probability of developing AD, we asked participants to indicate which they found more meaningful with regard to their risk of developing AD: APOE genotype, risk estimate, both equal or undecided.


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Ninety-four participants answered this question. Approximately half indicated that both pieces of information were equal, and 3% were undecided. Among those with a preference, a higher percentage, 60% (χ = 1.884, p = .170), indicated that their APOE genotype was more meaningful. Although this percentage is not statistically significant, it is clinically relevant and concerning because the difference between receiving an APOE genotype and receiving a risk estimate for AD based on the interpretation of that genotype and other factors is essentially genetic counseling. To understand why it would be that participants found it more meaningful to learn their APOE genotype than to learn what that genotype might mean for them, we looked at qualitative data collected during exit interviews that occur at the completion of the 12-month follow-up period. Their responses show that they hold varying views on and explanatory models for genetics and its relationship to developing AD. We found that some individuals felt that the genotype was “real” information because it was concrete and had little ambiguity associated with it. In contrast, the risk estimate was “just” a probability, and does not give one any definitive answer about whether or not one will ultimately develop AD. Given that one role of genetic counselors is as purveyors of information, we need to be aware of and sensitive to the fact that we cannot necessarily anticipate what kinds of information our clients will find most meaningful, let alone most informative. Moreover, we need to appreciate the fact that our clients may feel more comfortable with, or find more meaning in, discrete genotype information rather than in the more complex, and more complete, way that it can be integrated into their lives. KEY WORDS: Alzheimer’s disease; genetic testing; qualitative; risk assessment.

Who Should Be Tested? Genetic Counselors’ Opinions of Carrier Testing C. Cina, S. Metzenberg, A. Metzenberg, and M. D’Addario California State University – Northridge, Northridge, California Carrier testing is the process of examining genetic information from individuals to determine if they have a particular allele that might put their offspring at higher than normal risk for a genetic disease. During a prenatal genetic counseling session, many clients are now routinely given the option of carrier testing for disorders such as Cystic Fibrosis and Fragile X syndrome, even without an indication or a family history. Because of the growing number of carrier tests that are offered, genetic counselors are often devoting more of their time and focus during a counseling session to discuss testing options. The purpose of this study was to investigate what types of carrier testing, if any, are routinely offered to prenatal clients, and to assess the opinions of genetic counselors toward carrier testing by determining what factors they feel are important when offering testing. The hypothesis was that the severity of a disorder, its frequency in an ethnic group, and the sensitivity of a test are the primary factors that counselors consider before offering carrier testing.


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This study was conducted through an anonymous survey distributed at the National Society of Genetic Counselors Annual Education Conference and posted through a link from the NSGC website. A 3-part questionnaire were designed to assess counselor demographics, opinions of carrier testing, and thoughts when presented with hypothetical and actual scenarios. A total of 371 responses were obtained. The typical respondent specialized in prenatal genetic counseling and had 0–5 years of experience. The main findings were as follows: (1) genetic counselors are divided on what factors to consider before offering testing; (2) on the basis of hypothetical and actual scenarios, a significant number of counselors, approximately one third, favors broad testing; and (3) many counselors do not agree with their center policy regarding who should be tested. Comments provided by respondents indicated that the interaction of many factors makes carrier testing an individualized process that should be considered on a client-by-client basis. Based on the finding that counselors are divided on what to consider before offering testing, the service that clients receive may depend on counselors’ opinions. In addition, because a significant number of counselors favor routine testing, the implications of their beliefs on the health care system may need to be examined in light of the expected increase in availability of carrier testing. It will be necessary to further explore these findings and for the genetic counseling community to recognize these issues. KEY WORDS: carrier testing; genetic counseling; preconception; prenatal diagnosis.

The Effects of Amniocentesis on Maternal–Fetal Attachment and Maternal Attitudes Toward Pregnancy P. Delerme, B. Harrison, V. Headings, and F. Ampy Howard University, Washington, District of Columbia Maternal–fetal attachment describes feelings of closeness to the fetus and of acceptance of the fetus by the mother. Amniocentesis, in addition to creating more choices, creates greater responsibility in decision making. Women who are planning to undergo the procedure may experience altered feelings and attitudes toward their pregnancy. As a result, they may be less likely to bond with their fetus early on. The purpose of this study was to measure women’s prenatal bonding patterns in the midst of amniocentesis. Factors such as race and parity were examined. A 2-part questionnaire was designed to measure the level of attachment women had to their fetus and to identify common attitudes and feelings toward pregnancy. Women were recruited into the study, after receiving genetic counseling (Time 1). Women who underwent amniocentesis were given a second questionnaire after the communication of results (Time 2). A total of 30 women participated. Women in the nonamniocentesis group (n = 18) exhibited more attachment behavior than those in the amniocentesis group in 2 out of 6 subscales (Time 1). Looking at individual items in the first part of the questionnaire, women in the amniocentesis


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group (n = 12) exhibited more attachment overall after the communication of results. Women in the nonamniocentesis group exhibited more positive attitudes toward pregnancy than women in the amniocentesis group (Time 1) in 3 out of 6 items. Women in the amniocentesis group showed more positive attitudes about pregnancy after the communication of results. Women in the nonamniocentesis group identified less with negative feelings (4 out of 4) and more with positive feelings (2 out of 4) than those in the amniocentesis group. The amniocentesis group increased in 2 positive feelings and decreased in 1 negative feeling after the communication of results. African American women (n = 13) exhibited more attachment in 3 out of 6 subscales and more positive attitudes toward pregnancy in 4 out of 6 items than their racial counterparts (n = 17). African American women identified less with negative feelings (4 out of 4 items). Multiparous participants (n = 18) showed more attachment in 3 out of 6 subscales than their nulliparous counterparts (n = 12). Multiparous women identified more with positive feelings (3 out of 4) and less with negative feelings (3 out of 4) than their nulliparous counterparts. The results of this pilot study suggest that amniocentesis does effect maternal-fetal attachment and maternal attitudes and feelings, and that race and parity also plays a role. This sets a priority for a larger replication study. KEY WORDS: amniocentesis; attitudes; prenatal.

Pregnancy and Child-Rearing Experiences Among Women With Friedreich Ataxia J. Farmer, L. Kessler, J. Valotta, L. Balcer, D. Lynch, and D. Driscoll University of Pennsylvania, Philadelphia, Pennsylvania As individuals with Friedreich Ataxia (FA) live into adulthood, more women are considering pregnancy and child rearing. The purpose of this pilot study was to investigate family planning decisions and childrearing experiences among women with FA who have had a pregnancy and to learn about their experience with genetic counselors related to pregnancy. Based on clinical experience and literature review, there is little information regarding these issues to help counsel patients with FA. This investigation was part of a larger study that looked at pregnancy outcomes and complications, social support, and genetics knowledge. Participants in the study were women diagnosed with FA who had one or more pregnancy. Individuals were recruited through the FA clinic at the University of Pennsylvania, National Ataxia Foundation, and FA parenting listserv. A questionnaire that included open and closed-ended questions was developed and interviews were conducted by telephone or in person. There were 17 participants of which 11 were diagnosed with FA before having a pregnancy and 6 were diagnosed after pregnancy. The average age of the participants was 35 years (23–49). There were 30 pregnancies (28 livebirths, 1 ectopic pregnancy, and 1 TOP—trisomy 18) recorded among the participants.


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Of the women diagnosed with FA prior to pregnancy, 8 of them received genetic counseling with at least 1 pregnancy and 3 did not receive genetic counseling. Only 1 participant reported dissatisfaction with genetic counseling. Thematic analysis was used to evaluate responses related to pregnancy and childrearing experiences. Benefits and limitations related to childrearing were examined among both groups of participants. Significant themes emerged including closer parent–child relationships, children with greater independence, and children who are more sensitive and accepting of disability and diversity. Several participants also noted physical limitations related to child play, activities of daily childcare, and mobility. Participants who were diagnosed with FA after having children were asked if they would have done anything differently if they knew they had FA before getting pregnant. The main theme that emerged was that respondents felt they would not have more children. In contrast, when the group of women who were diagnosed with FA before pregnancy were asked to share their thoughts regarding the decision to have a child, the theme of compensation for difficulties and the need for support was raised. This pilot study captured many pregnancy and childrearing issues that women with FA face. Results impact genetic counseling for patients with FA and may potentially serve as a model for understanding these issues for other women with genetic conditions as they contemplate pregnancy. KEY WORDS: children; family planning; Friedreich Ataxia; genetic counseling; pregnancy.

Living With Shadows: Contextualizing the Experience of Being at Risk and Reaching a Decision About Prenatal Genetic Testing R. Grubs University of Pittsburgh, Pittsburgh, Pennsylvania As genetic tests enter clinical practice with increasing frequency, research is needed to explore the experiences of individuals who are living with genetic risk. Grounded theory (Glaser and Strauss, 1967; Strauss and Corbin, 1998) is one qualitative research method that allows for theorizing from the stories of individuals who are living with such risk. The intent of this particular study was to generate a substantive grounded theory that would portray insights into the experiences of women and couples who were offered prenatal genetic testing because of the mother’s age and to draw from this theory implications for genetic counseling practice and research. Conversational interviews were used to elicit stories from 24 participants (women and couples). Through the grounded theory processes of coding, constant comparative analysis, and researcher memoing, the interview transcripts were interpreted and, in turn, an interpretive (as compared to causal) theory was constructed. Results of the study suggest that participants did not approach the decision to accept or reject prenatal testing as a medical decision but rather as an emotionally charged existential dilemma. The participants’ responses to the


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angst associated with their experience of being at risk and making genetic-related decisions are portrayed through a narrative typology—e.g., submerging the angst, facing the angst with faith, evading the angst, focusing the angst, containing the angst, and sharing the angst. The typology was both constructed from and explicated by 4 conceptual categories. These categories emerged from the analysis and interpretation of participants’ stories. In grounded theory terms, the core concept was contextualizing the existential experience of being at risk and reaching a decision about testing. This concept refers to the ways in which participants construed meaning of the experience of being at risk and making genetic-related decisions. Elaborating on this concept were three additional categories that illustrate the varied ways in which individuals construed the relevance of genetic counseling, the meaning of advanced maternal age and being at risk, and the dynamics of the experience of making decisions. The metaphor of shadows is used to convey the ways in which participants drew upon the temporal nature of human existence to make meaning of the existential experience of living with genetic risk. The central thesis of this interpretive theory argues that genetic counseling clients may not be well served by reducing their experience to discrete variables, but rather through a counselor’s responsiveness to the meaning of the client’s existential dilemma within the empathetic moment of the counseling session. KEY WORDS: decision making; grounded theory; psychosocial; qualitative.

Asking Fathers: A Study of Psychosocial Adaptation Among Fathers of Boys With Hemophilia E. Herrick, L. Wissow, N. Holtzman, and R. Nussbaum National Institutes of Health/National Human Genome Research Institute, Bethesda, Maryland In the scope of research involving families with children who have chronic illnesses or special needs, paternal responses are generally lacking, or they are combined with maternal responses to reflect overall parental functioning. Although such data are useful in providing anticipatory guidance for couples, they tell us little about the unique needs of fathers. This study aimed to explore the psychosocial adaptation of men who have sons with hemophilia. A questionnaire was sent to fathers recruited from hemophilia support organizations in Maryland, Virginia, Pennsylvania, and DC area (N = 320). Quantitative measures included the Perceived Sense of Parenting Competence (PSOC), and the Locke-Wallace Marital Adjustment Test (MAT). Qualitative items addressed barriers to paternal involvement in care, the challenges of rearing a son with hemophilia, and how their son’s diagnosis has changed their life. Among the 83 eligible respondents, MAT and PSOC scores were statistically significantly correlated ( p < .01), indicating a relationship between paternal adaptation in marriage and in parenting. Fathers who


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felt “left out” of decision making by their partners or by medical staff, those who were not able to infuse their sons, and those who worried about infection and limited activity, all had lower scores on measures of parenting satisfaction, parenting efficacy, and marital adjustment. Written, qualitative responses provided further support for quantitative findings. Neither socio/demographic variables, nor medical characteristics of the boys, were significant. A more proactive attempt to include and engage fathers is warranted by all members of the health care team. Suggested educational interventions include creating opportunities for fathers to practice giving infusions, and having more frequent discussions of inheritance and recurrence risks. Recommended psychosocial interventions include providing anticipatory guidance on the importance of shared decision-making and paternal involvement in care; specifically soliciting and addressing paternal questions and concerns; and offering referrals to support groups and counseling services. As culture and medicine have advanced together, it is time to challenge some of the assumptions that have reinforced fathers’ absence from the clinical setting and contributed to their minority status in social science research. KEY WORDS: fathers; hemophilia; psychosocial.

Multicenter Study Shows Utility of a Depression Screening Questionnaire in a Population of AMA Patients S. Hoyle, R. Abramson, J. Bacon, M. Cuccaro, S. Donnelly, J. Edwards, and C. Wolpert University of South Carolina, Columbia, South Carolina Depression in pregnant women can cause many medical complications such as low birth weight, prematurity, and preeclampsia. Depression also affects understanding, perception, and decision making. Because genetic counselors have the responsibility of ensuring that the patient is able to make an informed decision, it is vital for genetic counselors to recognize depressive symptoms that may cloud a patient’s judgment. The aims of this study included (1) determining if current genetic counseling practices adequately detect depressive symptoms in patients with advanced maternal age (AMA) and (2) evaluating whether the Beck Depression Inventory (BDI-II) would be a valuable tool to assist genetic counselors in identifying patients with depression. We hypothesized that prenatal genetic counselors would not detect depression during a traditional genetic counseling session because symptoms are subtle and may overlap with common characteristics of pregnancy (e.g., loss of energy, fatigue, changes in sleeping pattern, changes in appetite). To test this hypothesis, a multicenter study was conducted. AMA patients were invited to complete the BDI-II, a widely used, validated, depression-screening questionnaire. These patients were also observed for symptoms of depression by prenatal genetic counselors. Sixty-eight patients completed the BDI-II and attended a genetic


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counseling session. The BDI-II detected depression in 15 of these patients while genetic counselors identified depression in 2 of these 15 patients during their traditional assessment. The sensitivity of the genetic counseling assessment was 0.13%, with a specificity of 0.95%. The positive predictive value was 0.40%, and the negative predicative value was 0.78%. Our hypothesis that genetic counselors may perceive some depressive symptoms as part of pregnancy could account for the low sensitivity. Alternatively, pregnant woman may select these physical items artificially elevating the BDI-II score. To investigate this potential confounder, we compared these 4 items with control data (15 nonpregnant AMA women who met BDI-II criteria for depression) from The Psychological Corporation. A chi-square analysis showed that the 15 pregnant depressed patients were significantly more likely to report only 1 of the 4 physical symptoms, fatigue, than the nonpregnant control population ( p = .02). Additionally, a personal history of depression was significant among women with depressive symptoms ( p = .04). However, a family history of depression was not found to be a positive predictor of depression in this group of patients. In summary, these results suggest that the traditional prenatal AMA genetic counseling session is not sufficient to detect the subtle signs of depression. Brief inventories, such as the BDI-II, could help identify patients who need further counseling or referrals, and ultimately enhance prenatal and postnatal outcomes. KEY WORDS: advance maternal age; depression; pregnancy.

Ethical, Health Policy, and Counseling Challenges Posed by a Sperm Donor With a BRCA1 Mutation J. Mak, M. Komaromy, B. Crawford, T. Kott, and J. Ziegler University of California – San Francisco, San Francisco, California A couple contacted our Cancer Risk Program after learning that the sperm donor they had used to conceive a pregnancy had, since donating the sperm, learned he had a BRCA1 mutation. The sperm bank had suggested to the couple that they terminate the 13-week pregnancy. We counseled the couple regarding the likelihood that their fetus would inherit the mutation and the associated risks of adult-onset cancer. They decided to continue the pregnancy and had a healthy boy. One year later, the couple recontacted us, because they were considering a second pregnancy using the same donor and to be carried by the other partner. This complex and unusual situation raised a number of ethical and policy issues for the couple, the sperm bank, and our clinical team. The couple’s motives for choosing this sperm donor again included their impression the donor had acted in a trustworthy manner and the desire for their offspring to be biologically related to each other. For their part, the sperm bank initially refused the couple access to sperm from this donor, including samples they had previously purchased and stored. In


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response to pressure from this couple, the bank instituted a policy that they would release the remaining samples only to couples who had already conceived using this donor. They also required that each couple obtain a signed statement from an outside institution stating that they had received genetic counseling and were fully informed of the risks; a signed statement from the inseminating physician releasing the bank from liability; and a signed release of liability from the couple. In consultation with our hospital’s ethics committee, we outlined the following relevant ethical principles: (1) autonomy/reproductive choice for the couple, (2) beneficence toward the future child, (3) nondiscrimination toward the couple, (4) autonomy for the health care providers, and (5) autonomy/wishes of the sperm donor. We chose a team counseling approach, in which 2 genetic counselors and a physician met with the couple. In addition to factual information about BRCA1, we showed them pedigrees from 3 BRCA1-positive families previously tested through our program. A week following our session, the couple informed us that they were no longer inclined to use the same donor for their pregnancy. We will discuss ethical and health policy issues in the regulation of sperm banks and development of consistent policies regarding genetic screening and dealing with results of genetic testing, as well as review genetic counseling challenges and approaches specific to this situation. KEY WORDS: BRCA; ethics; genetic counseling; health policy; sperm donor.

Anxiety and Prenatal Testing: Do Women With Soft Ultrasound Finding Have Increased Anxiety Compared to Women With Other Indications for Testing? J. Malone, J. Mastrobattista, D. Johnston, A. Kerrigan, and C. Wicklund University of Texas Health Science Center – Houston, Houston, Texas The purpose of this study was to assess anxiety associated with various indications for genetic counseling and prenatal testing and use this information to enhance the genetic counseling process. No study has compared anxiety levels between women referred for advanced maternal age (AMA), abnormal maternal serum screens, and detected soft ultrasound findings. Soft ultrasound findings including nuchal thickening, choroid plexus cysts, echogenic bowel, shortened long bones, echogenic intracardiac foci, fetal pyelectasis, mild ventriculomegaly, and single umbilical artery may indicate an increased risk for fetal aneuploidy. The significance of soft ultrasound findings is unclear and the option of prenatal diagnosis for these patients is controversial. These 3 groups of women have similar statistical risks, but no studies have investigated whether this similar risk confers similar anxiety levels. Our hypothesis was that the soft ultrasound findings group would have increased anxiety compared to AMA, and abnormal maternal serum screen groups. The State-Trait Anxiety Inventory was used to assess the women’s


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anxiety levels postgenetic counseling. An additional questionnaire was used to obtain demographic information and assess perceived risk and plans to undergo amniocentesis. Two hundred fifteen women participated in the study: 124 AMA, 55 abnormal maternal serum screens, and 36 soft ultrasound findings. Results were analyzed for significance using analysis of variance and chi-square hypothesis testing. Our findings revealed that women with soft ultrasound findings and abnormal maternal serum screens had significantly higher state anxiety than women who are AMA. These findings are consistent with previous studies that have reported higher state anxiety levels in women with abnormal MSAFP testing than in women who are AMA. Although women with soft ultrasound findings are given less clear and often controversial information, their state anxiety was not significantly different from women with abnormal maternal serum screens. Perceived risk, decision to undergo amniocentesis, education level, and income were factors that significantly affected the women’s anxiety scores, but were not successful indicators of state or trait anxiety. We conclude that referral indication is associated with different levels of anxiety, not the actual numerical risk for chromosome abnormalities. The 2 groups of women that underwent screening tests (maternal serum screen and ultrasound) had similar anxiety levels, and both had higher anxiety than the AMA group. Therefore, we propose that increased anxiety may be related to screening tests in general, as opposed to specific screening tests. With increased prenatal screening and genetic testing options, it is important to understand the psychosocial implications for patients undergoing these tests. This information provides insight into situations in which patients may have increased anxiety. KEY WORDS: anxiety; genetic counseling; prenatal diagnosis; ultrasound.

The Process of Childhood Genetic Testing: Parental Views and Intentions J. O’Connell, R. Grubs, C. Aston, L. Parker, and D. Whitcomb Christiana Care Health System, Newark, Delaware As more genetic tests become available for familial conditions, the controversy regarding childhood genetic testing for carrier status or for later–onset disorders grows among professionals and parents. However, the parents’ intentions and role in the process of childhood genetic testing should play an important role in determining if more stringent regulations regarding presymptomatic testing for children are necessary. The aim of this study is to address parents’ intentions for testing their children and their decisions involving the disclosure of test results. A mail-based questionnaire was provided to parents enrolled in the Hereditary Pancreatitis Research Study at the University of Pittsburgh whose children were tested for genetic mutations associated with Hereditary Pancreatitis (HP). A questionnaire was created to assess the demographic and clinical status of each child and other family members, the parents’ motivations to have their child/children


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tested, the parents’ decision to disclose the test results, and the information they provided to their children upon disclosure. Out of 138 parents, 32 surveys were completed. Data analysis was primarily descriptive. This study revealed that the parents’ motivations to have their child tested for HP was to explain the cause of their children’s symptoms or to predict their children’s future health. However, participation of the children in the decision for genetic testing is concerning with only 36 out of 53 children (68%) asked prior to testing, despite the need for child’s assent. The age of their child appeared to influence the parents’ decision to include them in the decision process. Despite the exclusion of their child in the decision to have genetic testing, most parents (81%) informed their child of the test results. Unfortunately, when asked specific information regarding HP and its inheritance pattern, many parents could not recall the information or recalled it incorrectly. Therefore, this study provides evidence that there is a need for more stringent guidelines regarding childhood genetic testing and also a need for a more active role of genetic counselors in the disclosure process to provide accurate information. KEY WORDS: children; genetic testing; hereditary Pancreatitis; assent.

Genetic Counseling for Psychiatric Disorders: A Qualitative Study C. Palmer University of California, Los Angeles, California What is the public’s perception of genetic counseling for psychiatric disorders? The purpose of this study is to explore experiences, perceptions, expectations, and attitudes toward genetic counseling and testing for psychiatric disorders. Seventeen individuals with a personal or family history of obsessive–compulsive disorder (OCD), schizophrenia, depression, or bipolar disorder (BPD) participated in a semistructured interview to explore experiences, perceptions, and attitudes toward genetic counseling and genetic testing for psychiatric disorders, opinions about the cause of psychiatric illness, and issues faced by individuals because of psychiatric illness. Interviews were audiotaped and transcribed. Analyses below focus on genetic counseling and testing. Participants were primarily female (14/17) and Caucasian (14/17). The average age was 45.3 and the median education level was 4 years of college. Three participants had OCD and 2 had BPD: 3 of these 5 also had a positive family history. Twelve participants had no personal history of psychiatric illness, but 9 had affected first-degree relatives and 3 had more distantly related affected relatives. Diagnoses of affected relatives included OCD, schizophrenia, depression, and BPD. Most participants were familiar with genetic counseling and interest in counseling to specifically address psychiatric illness was high. However, few were aware that it was available for these disorders. Participants expected genetic counselors to discuss the chance that they or their children would develop the disorder, its inheritance, the illness and its etiology,


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and availability of genetic testing. Repeatedly mentioned was that this information could be used for reproductive planning, and to benefit at-risk individuals by enabling early detection of psychopathology with subsequent early intervention. Participants felt that psychiatric illness could be very difficult, but often countered this with examples of positive aspects of the illness or of successful treatment. Positive aspects to gene discovery and genetic testing included identifying at-risk individuals, decreasing guilt by removing parenting as the cause, and improving treatment and cure possibilities. Negative aspects included emotional burden on “carriers” to make reproductive decisions, increasing a fatalistic attitude toward the illness, and decreasing the possibility that one can alter their behavior. Many participants recognized that the presence of an abnormal gene may not result in disease. There is interest in genetic counseling among affected and unaffected individuals with a family history for a wide variety of psychiatric disorders. Individuals expect the same types of issues that are addressed in genetic counseling for other disorders to be addressed for psychiatric disorders. Reasons for genetic counseling and testing did not differ by psychiatric diagnosis or affection status. KEY WORDS: genetic counseling; psychiatric; qualitative.

Does Receiving Genetic Counseling Impact the Way in Which the Genetic Counselor Practices? E. Peters, P. McCarthy Veach, E. Ward, and B. LeRoy University of Minnesota, Minneapolis, Minnesota In the field of genetic counseling, little is known about genetic counselors’ receipt of genetic counseling services. Literature in the mental health field suggests that practice is affected, in many cases for the better, when therapists receive mental health services. However, there is no published research that directly addresses the receipt of genetic counseling by genetic counselors. The purposes of this study were to assess whether practicing genetic counselors have gone through genetic counseling and if so, to determine the impact of having been a genetic counseling client on their own clinical practice. Results of this study have important training and practice implications. One thousand Board Certified genetic counselors were randomly selected from the ABGC mailing list and were mailed an anonymous questionnaire. The questionnaire contains 4 sections: (1) questions concerning the nature of the genetic counseling services received; (2) impact on clincal practice (e.g., counselor empathy, objectivity, countertransference, and provision of information and psychosocial support); (3) frequency and rationale for disclosing about one’s experiences as a genetic counseling patient; and (4) respondent demographics. Means, standard deviations, ns, and frequencies were calculated where appropriate; responses to short-answer items were content-analyzed and these data will be presented. Of 1,000 surveys mailed, 535 were returned; of these, 27 were


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undeliverable, 414 were from counselors who had not received genetic counseling, and 94 were from couselors who had received genetic counseling services (53.5% return rate; 50.8% usable response rate). Of the 94 people who received genetic counseling, 71% were practicing counselors at the time that they received services. Their reasons for having genetic counseling include a variety of prenatal concerns, family history of cancer, and history of other genetic conditions. Only 7% indicated that their choice of specialty area was influenced by their experience as a genetic counseling client. With respect to impact on practice, the most frequently endorsed items were greater empathy, feeling more connected with clients, feeling sympathy, better able to understand client decisions, and greater focus on psychosocial support. Forty-three respondents (46%) reported disclosing to clients that they had received genetic counseling, with the majority reporting that this occurred rarely. Of these 43, over half endorsed the following reasons for disclosing (1) because client asked; (2) to help clients feel they are not alone; (3) to decrease client anxiety; (4) to indicate counselor understanding of client situation; (5) to normalize client feelings; and (6) to build rapport. Chi-square and t test analyses of selected survey items will be reported. Practice and research recommendations will be presented. KEY WORDS: countertransference; genetic counseling; self-disclosure.

The Emotional and Social Consequences of Informing Relatives at Risk for Fragile X Syndrome M. Roche, D. Skinner, and D. Bailey University of North Carolina – Chapel Hill, Chapel Hill, North Carolina The difficulties families encounter upon informing relatives about a genetic diagnosis have been described. The complex inheritance pattern and the potentially large number of “at-risk” relatives makes the process particularly challenging for families affected with fragile X syndrome (McConkie-Rosell, 1995). Factors have been identified that enhance or hinder the communication process including the role of an “information gatekeeper” through whom information flows or stops and the reactions, primarily negative, by recipients of the information. The recognition that both positive and negative reactions are elicited by attempts to inform relatives and that many of the initially negative reactions change over time has important implications for genetic counseling. Sixty-seven families were interviewed as part of a longitudinal study to investigate their experiences with fragile X syndrome. Questions explored the reactions of relatives to the diagnosis. The semistructured interviews were audiotaped, transcribed, and entered into the program NUD*IST 4.0 for coding and analysis. Textual data for this analysis was searched and coded using the key words: “blame,” “guilt,” “carrier,” “respond,” and “react.” All data relating to these key words plus contextual data for each family were collated


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and analyzed using content analysis. Families experienced a wide spectrum of reactions to the diagnosis and its implications. Most parents told selected relatives but many were reluctant to inform their own parents for fear of causing feelings of guilt or blame. Initial reactions ranged from acceptance, understanding, and relief to denial, anger, blame, and estrangement. Some relatives remained steadfast in their denial, but others showed at least partial acceptance over time as evidenced by their willingness to be tested; a decision that study participants often equated with family support. Despite the acute awareness that potentially negative reactions could ensue following disclosure, parents expressed feelings of great personal responsibility to convey the information to appropriate relatives. They expressed disappointment, frustration, and bewilderment by their relatives’ refusals to acknowledge the gravity of the diagnosis, to believe they were at risk, and to be tested. In other families, positive reactions dominated the encounters as relatives expressed gratitude for the information, became more empathetic about the child’s developmental delays, and supplied emotional support for the parents. A wide variety of reactions, both positive and negative, occurred when families with fragile X syndrome informed relatives about the genetic implications of the diagnosis. The recognition that some relatives had positive reactions, and that some negative reactions change over time, can help parents who are confronted with this challenge. (Partially funded by Grant # H023C30081, Office of Special Education Programs, U.S. Department of Education). KEY WORDS: family communication; fragile X syndrome; genetic counseling.

Patient Preference for Graphic Displays of Risk Information in Cancer Counseling R. Ruzicka and J. Weitzel University of California Irvine Medical Center, Orange, California Several studies indicate that many women presenting for cancer risk counseling overestimate their risk for breast cancer, even after genetic counseling. Others report that the general population has a low level of numeracy, or ability to understand numbers, probabilities, and proportions. Visual aids have been shown to help explain numeric risk information by helping people “see” the information clearly. Women’s preferences for visual and numeric risk information formats has not been well studied in women undergoing cancer risk counseling, who might react differently to visual aids than other women. The purpose of this study was to determine the preferences of women undergoing cancer risk counseling for 5 different visual aids for explaining numeric risk information (bar graph, highlighted female figures, figure of woman, line graph, and jars with marbles). These aids, which demonstrated risk for breast and ovarian cancer in the average woman versus in a BRCA1 or BRCA2 mutation carrier, were presented to 20 female


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cancer counseling patients at the City of Hope Cancer Screening & Prevention Program. Preferences for these formats and open-ended input were solicited by questionnaire. Results indicated significant variability in participants’ preferences for different visual aids. The bar graph and highlighted female figures were rated highest for clearly explaining risk. The line graph was rated highest as appearing to be most personally relevant. When asked to choose a single format preference, the rank order of preference was bar graph, highlighted female figures, line graph, woman figure, and marbles. Several patients commented on familiarity and comfort with bar graphs. Some preferred frequency formats, and which show how many people out of 100 would be affected vs. probability formats, and which show percentages. Participants suggested that the line graph has the added benefit of showing changing risk over time, but is more difficult to understand. The jars of marbles added a tactile element that some women found appealing, although some were fearful of picking a marble to demonstrate chance. We conclude that using more than one visual aid in counseling should help capitalize on patients’ differing abilities to understand graphs and numbers. In addition, some visual aids are more salient/personally relevant than others and may influence risk perception as well as knowledge of objective risk. It would be important to assess not only preferences for visual aids, but which visual aid(s) lead to best comprehension of risk information. Therefore, a further study is currently being proposed to assess which of the visual aids used in this study leads to best comprehension of risk information. KEY WORDS: cancer counseling; risk communication.

Racial–Ethnic Differences in Genetic Amniocentesis Acceptance J. Saucier, D. Johnston, C. Wicklund, P. Robbins-Furman, J. Hecht, and M. Monga The University of Texas Health Science Center, Houston, Texas The objective of this study was to determine racial–ethnic differences in genetic amniocentesis acceptance. Women offered genetic amniocentesis between August 2001 and March 2003 were included. Participants completed a demographic survey and a previously validated 41-item Health Belief Model questionnaire assessing (1) individual perceived susceptibility, (2) severity of potential impact, (3) benefits of testing, and (4) barriers to testing for a disease. Six questions assessed knowledge about amniocentesis. t test, (M)ANOVA, and logistic regression were used ( p < .05 significant). Two hundred fifty-three women were offered genetic amniocentesis; 157 (62%) agreed to participate. The racialethnic distribution was Caucasian (32.7%), African American (22.8%), Hispanic (21.6%), Asian (19%), and other (3.9%). About 73.9% accepted amniocentesis. There was no significant difference between race and ethnicity or amniocentesis


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acceptance between participants (n = 157) and the target population (n = 253). Hispanic women were less likely to accept amniocentesis (51.5% vs. Caucasian 82.8%, African American 82.9%, Asian 82.8%, p < .001). Hispanics had higher parity ( p < .01), were more likely to be Catholic ( p < .001), and reported less education ( p < .001); Hispanics and African Americans reported lower income ( p < .001). However, there was no significant difference between religious affiliation, income, or parity between accepters or decliners. Education level was the only demographic factor higher among accepters ( p = .02). Women who accepted amniocentesis had higher perceived seriousness, susceptibility, and benefits HBM scores and higher knowledge scores than women who declined ( p < .001). Among the acceptors, Caucasians had lower seriousness scores than Asians ( p = .003) and African Americans ( p = .045), while Hispanics had lower knowledge scores than Caucasians ( p = .046). Of the demographic factors, race-ethnicity was most predictive of amniocentesis decision, predicting the correct amniocentesis decision 75.5% of the time. HBM scores alone predicted the amniocentesis decision correctly 91.5% of the time. The combination of race-ethnicity and other demographic factors with the HBM scores did not improve the percentage of correctly predicted amniocentesis decisions. Individual health beliefs play a greater role in the amniocentesis decision than demographics. KEY WORDS: amniocentesis; health belief model; ethnicity; prenatal diagnosis.

Japanese People in the United States: Their Needs and Attitudes Toward Prenatal Genetic Counseling C. Tamura, S. Hull, B. Biesecker, V. Corson, and D. Roter National Center for Child Health and Development, Tokyo, Japan Genetic counseling, as practiced in the United States for over 30 years, has been based mainly on Western cultural values. Yet, the need for genetic counseling services in different sociocultural settings has been increasing. We conducted a qualitative study to understand the needs and attitudes toward prenatal genetic counseling of people with a Japanese cultural background. Three focus groups were held with Japanese women between the ages of 20 and 45 years, who had come to the United States from Japan after 20 years of age. Hypothetical situations related to prenatal genetic counseling were presented to participants. They were asked about their expectations of prenatal genetic counseling, including their need for information and psychological counseling. The question of who should make decisions and with whom one would discuss issues related to prenatal diagnosis and termination of pregnancy due to genetic disorders was also addressed. The results indicated that these women were interested in prenatal genetic counseling, and wanted to obtain information related to prenatal diagnosis, including information on social welfare resources available when genetic conditions are identified.


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Additionally, participants indicated that psychological counseling would be helpful for them although many mentioned that there must be an environment of safety and trust between client and counselor. Some suggested that they would like to know that genetic counseling sessions consist of not only information provision but also psychological counseling prior to actual sessions so that they could prepare to discuss both medical and psychosocial concerns. Most participants felt that the decision about whether or not to undergo prenatal diagnosis should be made primarily by the couple. Opinions about whether to involve parents in the decision differed among the women. Several potential psychosocial issues came up in the discussion, including family pressure and fear of conflicts with extended family members. Most participants suggested that information about the baby’s future would be an important factor to making decisions. Many judged that the majority of Japanese people are not religious and agreed that religious ideas would not matter in considering prenatal decisions. These women identify strongly with their Japanese cultural background, but do not want genetic counselors to treat them differently because of their background. The findings of this study will have implications for the delivery of prenatal diagnosis and genetic counseling services that take into account the needs of people who are living in the United States and have a Japanese cultural background. They may also inform future directions of prenatal genetic counseling practice in Japan. KEY WORDS: cultural background; decision making; focus groups; genetic counseling; japanese; prenatal diagnosis.

Parental Coping With Proteus Syndrome: A Chronic Progressive Disorder J. Turner, B. Biesecker, J. Leib, L. Biesecker, and K. Peters National Institutes of Health/National Human Genome Research Institute, Bethesda, Maryland Little is known about how parents cope with raising a child with Proteus syndrome, a progressive disfiguring overgrowth condition. The psychosocial consequences of this condition are likely analogous to other progressive genetic conditions. Genetic counseling seeks to enhance clients’ ability to adjust to their child’s condition by assisting clients in identifying and utilizing their coping resources. The purpose of this qualitative study was to learn how parents perceive Proteus syndrome and how health professionals can help to facilitate their coping process. Qualitative interviews with 31 parents, average age 35.6 years, were conducted using a semistructured guide developed using Goffman and Jones’ stigma delineations. Codes used for analysis were derived from recurring themes that emerged from the data. Coping strategies depicted in Carver, Weinstraub, and Scheier’s COPE inventory tool and answers to targeted questions were assessed. Three independent coders validated the coding scheme and there was high intercoder


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reliability. Parents were found to utilize a combination of coping mechanisms including problem and emotional focused strategies. The majority was adaptive and 76% reported to have come to accept their child’s condition. The most common coping mechanisms described include seeking emotional support (68%), positive reappraisal and growth (67%), active coping strategies (66%), downward comparison (58%), turning to religion (52%), seeking instrumental support (57%), and restraint coping (48%). Less than 3% reported using maladaptive coping mechanisms such as alcohol or other substance abuse. Whereas 25% described mental disengagement, .05). Our findings suggest the 3 educational methods utilized are equivalent with respect to patient comprehension and risk perception. Several demographic factors were found to significantly affect comprehension and risk perception scores. Higher educational level is associated with both increased comprehension ( p = .006) and lower risk perception ( p = .022). Previous living children is correlated with decreased risk perception ( p = .046). Whites had higher comprehension scores than did non-Whites ( p < .001). When questioned about personal preference of education method, the majority response was a combination of verbal and written information. Therefore, utilization of at least some verbal education along with written information may serve to increase comprehension and potentially reduce anxiety associated with higher risk perception, thereby optimizing the informed consent process for CF screening. This type of study is important when developing genetic screening protocols and education methodologies. Further studies with larger sample sizes are indicated to determine if the findings seen in this study hold true for a more general patient population. KEY WORDS: carrier screening; cystic fibrosis; patient comprehension; risk perception.

Incorporation of a Genetic Education Module and Its Impact on Students’ Genetic Knowledge and Role Definition: A Survey of Graduate Nursing Students C. Pendergrass, J. Kapustin, and L. Steinberg University of Maryland School of Medicine, Baltimore, Maryland New discoveries from the human genome project and their incorporation into every aspect of health care necessitate formal genetic education of nurses. It is imperative for nurses to attain knowledge of human genetics in order to help identify those individuals who may have a genetic condition or predisposition, and


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refer them to a genetic professional. What is yet to be determined is the specific education nurses will need to prepare them for their new role in the current era of genetic medicine. A preliminary study was conducted to assess the baseline genetics knowledge of graduate nursing students and then reassess their knowledge following a genetics education module. Sixty-eight graduate nursing students were randomly divided into a control or experimental group. The experimental group was given instruction about general genetics terminology, pedigree assessment, and inheritance patterns by using a self-guided computer-based module, and clinical applications of genetics and the role of the genetic counselor in an in-class lecture format. Both groups were given an identical pre- and posttest. The experimental group improved their scores by 15% on the general genetics section, 9% on the pedigree assessment section, and 6% on the clinical applications section. One area of concern is that by enhancing the genetics content of the graduate nursing curricula, nurses may feel prepared to provide genetic counseling themselves and be less inclined to make a referral to a genetic professional. This concern was substantiated when 30% of the experimental group participants replied they would provide genetic services to their patients instead of referring to a genetic professional. The results of this preliminary study provide information for faculty involved in curriculum development as to what areas of genetics need to be focused on when developing the graduate nursing curriculum. KEY WORDS: genetics education; nurses; inheritance; pedigree; curriculum.

Special Needs Adoption: A Web Site for Parents Facing Decision and Health Professionals Caring for Them C. Perry, J. Finnegan, H. Ferguson, and B. Lerner Brandeis University, Waltham, Massachusetts Birthparents who receive a diagnosis of a disability in a pregnancy or at birth suddenly face life-altering decisions. It is essential that they receive accurate information concerning all of their options as well as the emotional support needed for making such decisions. There is much information available on raising children with special needs and terminating pregnancies because of disability but little on the option of adoption. There is a great deal of information present in published literature and on the Internet directed at those who are choosing to adopt a child, with or without a disability. However, adoption websites and published literature for birthparents are typically directed at teenage birthparents with unplanned pregnancies. There is a dearth of information discussing the option of adoption for birthparents of children with disabilities. Moreover, health professionals have expressed a need for a website on adoption aimed at birthparents of children with special needs. This was the driving force behind the construction of “Special Needs Adoption: A Website for Parents Facing Decision and Health Professionals Caring


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for Them.” This website was constructed as resource for birthparents considering special needs adoption as well as for the health professionals caring for them. In addition to general special needs adoption information, the website lists adoption agencies useful for birthparents of children with special needs, common emotional reactions of birthparents choosing adoption for a child with disabilities, and contains a variety of links for additional sources of information unique to special needs adoption and disabilities. It also contains a list of resources, including agencies and organizations, that can aid in the adoption process. Finally, this website offers a section specifically for health professionals. This section discusses guidelines for presenting the option of adoption to birthparents, and discusses the importance of using “adoption language,” or unbiased terminology. The website was reviewed by genetic counselors, birthparents, and organizations that offer adoption services. These reviewers were then asked to fill out a survey concerning the usefulness of the website for birthparents, and health professionals, ease of accessibility, accuracy of the information, sensitivity of the language used, and quality of the resources. Ninety-two percent of responders stated that this website is a useful resource for health professionals, whereas 89% said that it would be useful for birthparents. Thirty-six out of 37 genetic counselors responding stated that they would recommend the website to their patients. These results imply that such a website would be a valuable resource for both birthparents and health professionals. (Available at http://www.people.brandeis.edu/∼skater) KEY WORDS: adoption; disability; pregnancy options.

Impact of Brochures Conveying Folic Acid Prevention Messages on Women’s Multivitamin Intake, Knowledge, and Intentions C. Stanley, J. Bean, K. Augustine, G. Yager, and N. Warren University of Cincinnati, Cincinnati, Ohio Periconceptional daily folic acid consumption considerably reduces the risk of NTDs. Recent studies show that folic acid also reduces the risks for other reproductive disorders as well as several serious adult disorders. Promotion campaigns, however, primarily focus on the well-documented reproductive benefit of neural tube defect risk reduction. The aim of this study was to determine and compare the effect of 2 brochures conveying folic acid prevention messages on women’s multivitamin intake, knowledge, and intention to take multivitamins. Women (n = 212) enrolled in undergraduate and graduate college courses were systematically assigned, by academic course, to 1 of 2 groups. Group 1 received a brochure describing only the reproductive health benefits of taking daily folic acid; Group 2 received a brochure describing both the reproductive and adult health benefits of taking daily folic acid (multiple-benefit brochure). Prior to reading the brochure, participants were given a preintervention questionnaire to assess baseline multivitamin intake,


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knowledge, and intention to take multivitamins. One month following the intervention, participants were asked to complete a postintervention questionnaire to assess the latent effect of the messages on multivitamin intake, knowledge, and intention to take multivitamins. Of the 212 prequestionnaire respondents, 91% (n = 192) also completed the postquestionnaire. Multivitamin intake following the intervention increased significantly within each group (paired t test, p = .001, p < .001). However, no statistically significant difference in postintervention multivitamin intake was found between the 2 groups (t test, p > .05). Postintervention folic acid knowledge also significantly increased within each group (paired t test, p = .002, p < .001). Following the intervention, participants in Group 1 averaged a 28% increase in knowledge whereas participants in Group 2 averaged a 12% increase in knowledge. Prior to the intervention, 21% of participants in Group 1 and 27% of participants in Group 2 knew that the best time to take folic acid was everyday. Following the intervention, 32% of Group 1 participants and 67% of Group 2 participants knew that folic acid should be taken everyday (chi-square test, p < .001). Brochures conveying folic acid prevention messages are effective strategies to increase multivitamin intake and folic acid knowledge. Our study showed that a multiple-benefit folic acid prevention message is equally effective in promoting increased multivitamin intake as the traditionally used reproductive prevention message. Further, our results indicate that a multiple benefit prevention message is more effective than a reproductive prevention message in conveying the recommendation that folic acid should be taken everyday. KEY WORDS: folic acid; education; prevention; neural tube defects.

Genetics: Education in Primary Care L. Steinberg, J. Kapustin, L. Fountain, R. Solomon, and N. Khanna University of Maryland School of Medicine, Baltimore, Maryland The Human Genome Project and other advances in the field of genetics and genomics will revolutionize the practice of medicine and require the primary health care practitioner to be knowledgable of basic genetic concepts, the clinical application of new genetic technologies, how to recognize inheritance patterns, and when a referral to a genetics specialist is indicated. To address this need, the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services is supporting several initiatives to increase the genetics content in the curricula of primary care health professional training programs. The Genetics in Primary Care (GPC): A Faculty Development was a 3-year (1998– 2001) contract to plan, implement, and evaluate outcomes of family medicine, general internal medicine, and general pediatrics training programs in genetics. The Genetics Interdisciplinary Faculty Training (GIFT) program offered through Duke University is training teams from across the country to incorporate genetics into the


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curricula of nurse practitioner, nurse midwife, and physician assistant programs. In a joint effort, the University of Maryland’s Schools of Medicine and Nursing GPC and GIFT teams presented a workshop, “Genetics: Education in Primary Care,” on January 15, 2003. The course objectives were to allow the participants to (1) recognize the importance of genetics in clinical practice across the life span; (2) discuss the clinical application of new genetic discoveries such as gene testing and pharmacogenetics; (3) incorporate genetics into the primary care curriculum; (4) utilize resources in teaching genetics in primary care; (5) recognize the ethical, legal, and social issues associated with genetics; and (6) discuss the appropriate indications for a referral to a genetics specialist. There were 60 participants (31 faculty; 11 clinicians; 14 students; and 4 residents) from a variety of primary care areas. The workshop featured a panel of 2 physicians, a genetic counselor/physician assistant, a genetic counselor, and a nurse midwife who highlighted genetics in primary care practice. Other speakers focused on current issues including pharmacogenetics, ethical, legal, and social issues, and curriculum and resources. A nurse practitioner, breast cancer survivor and advocate, provided a personal perspective. Pre- and postworkshop evaluations illustrated that the workshop successfully met its objectives. Respondents strongly agreed (33.33%) or agreed (47.22%) that the content presented in the workshop will help them be more effective in their own practice. This workshop demonstrates how primary care practitioners and educators can be effectively taught the application of genetic advances into clinical practice and the role that the genetic counselor can play in this process. KEY WORDS: genetics education; primary care; physician training; curriculum.

VI. GENETIC TESTING Survey of Obstetric and Neonatal Nurses About Carrier Screening for Cystic Fibrosis S. Audlin University of Maryland, Baltimore, Maryland In the fall of 2001, the American College of Obstetricians and Gynecologists (ACOG), in conjunction with the American College of Medical Genetics (ACMG), recommended that all obstetrician-gynecologists make cystic fibrosis (CF) DNA screening available to each of their patients. The offer of screening requires a discussion between patient and physician or support staff concerning the medical aspects of CF, testing capabilities and limitations, and interpretation of test results. Presumably the responsibility of preconception and prenatal carrier screening for CF will not rest solely upon the shoulders of obstetrician-gynecologists and genetic counselors, but likely will be shared with other professionals in the obstetric community, including obstetric and neonatal nurses. The National Coalition for


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Health Professional Education in Genetics (NCHPEG), in partnership with the Association of Women’s Health, Obstetric and Neonatal Nurses (AWHONN), is investigating the need for a multidimensional continuing education program to educate AWHONN members about the ACOG guidelines and address specific needs in the membership’s knowledge about basic genetics in general and cystic fibrosis in particular. As the initial step in the construction of the education program an online survey was designed to assess the members’ (1) level of interest and opportunity in educating patients about CF carrier screening, (2) familiarity with the ACOG guidelines, (3) current involvement in the implementation of the guidelines, and (4) level of understanding of CF and carrier screening. The entire AWHONN membership was notified of the survey by mass e-mailing. Four hundred seventy-one responses were submitted. Among other aspects, the respondents varied by specialty, education level, and years of clinical experience. Only 43.7% of respondents were familiar with the ACOG guidelines for CF carrier screening. The respondents’ average correct score was 4.274 + 0.2454 (32.88% + 1.887%; 95% confidence interval) out of 13 multiple-choice questions designed to assess CF content knowledge. Currently, respondents are not deeply involved in the implementation of CF carrier screening with 77% (n = 363) having never provided CF carrier screening to education to patients. Greater than 60% of respondents stated that they would choose to educate patients about CF carrier screening following an education program, however. After reviewing the survey results and trends, it is apparent that the neonatal and obstetric nurses, represented by AWHONN, do not have sufficient training to meet the requirements put in place by ACOG. This study supports the assertion that if the neonatal and obstetric nursing community is going to be involved in the implementation of the ACOG guidelines, further education is necessary before nurses can educate and counsel patients appropriately. KEY WORDS: ACOG; carrier screening; cystic fibrosis; nurses.

Measuring the Quality of Informed Consent (QuIC) of Participants in a Population-Based Genetic Database A. Cirino, W. Wolf, R. Chisholm, and K. Ormond Northwestern University, Chicago, Illinois Population-based genetic research studies are currently being undertaken to better understand complex, common diseases. Despite a large body of literature on the importance of informed consent in genetic research, there is little research data on this topic. Evaluating the informed consent process in this area can help to improve its effectiveness. The goals of this research were (1) to assess the knowledge and self-assessed understanding of participants in a population-based genetic study and; (2) to identify predicting factors for participation and comprehension in population-based genetic studies. At the time of this abstract, interviews were


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conducted with 83 individuals who had enrolled in the NUgene project, a longitudinal study to associate medical information with genotype data at Northwestern University (43.5% of NUgene participants to date); data collection will continue to reach 200 participants. Individuals were interviewed by telephone within 1–4 weeks of NUgene enrollment. Interviews consisted of demographic questions, a modified version of the quality of informed consent measure (QuIC), and semistructured questions about participation and understanding of NUgene (data presented separately). The QuIC is a measure designed to assess participants’ knowledge and self-assessed understanding about essential components of informed consent, and validated in a population participating in cancer clinical trials. Summary knowledge scores and self-assessment scores for the modified QuIC were generated (ranging from 0 to 100). NUgene participants’ self-assessed understanding was greater than their actual knowledge (90.1 vs. 68.7). Participants reported good understanding of the nature of the study (100) that the potential benefit is for future patients (99.4), and that participation is voluntary (90.9), and a reasonable understanding that the research is not intended to benefit them (75.0). Less understood concepts included potential risks and discomforts (14.5), the experimental nature of the genetic testing (19.9), procedures to follow in the event of injury (37.2), and confidentiality issues (45.1). Education was the only variable found to predict higher knowledge (graduate degree, p = .03). Caucasian ethnicity and income $50,000 (66.3%). Using a Likert scale of 1–5 (5 being highest), interviewees generally considered themselves healthy, and comfortable with science (4.44 + 0.78) and genetics (4.03 + 1.15). Several themes emerged from the data, focusing around reasons for participation, beliefs regarding the risks and benefits of the study, expectations regarding results and ways in which participants would


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prefer to be recontacted if future studies or results become available. The majority of participants enrolled in NUgene to help mankind or the “general population” in some manner (>75%), to help find disease genes, treatments or cures, and/or to contribute to the overall knowledge of science or medicine. Less common reasons for participation were a personal interest in science or genetics, or in research participation in general. Many participants (∼30%) clearly expressed a hope for personal benefit, often naming specific disorders or affected family members. Confidentiality protections of the study were described as good by most (>50%) study participants, and almost half specifically described one or more of the privacy protections associated with NUgene. While many were able to articulate the general privacy concerns, and a reasonable minority specifically cited concerns with employer (12%) or insurance discrimination (25%), most considered the risks to privacy low (25%) or none (∼60%). With regards to the expectation for personal benefit, only 10% of participants explicitly stated they had no expectation for personal benefit. When asked whether they expected to be contacted with study results, respondents were split between having no expectation (42/107), being hopeful or open to the receipt of results (40/107), and stating clearly that they expected to be contacted with results (13/107); common explanations were if “something I need to know” or “something serious” was discovered. Over 75% of study participants felt that if a genetic test became available for their family they would wish to undertake it, and few caveats were mentioned. Overall, phone or mail was preferred for notification. (Supported by DOE #DE-FG02-02ER63437). KEY WORDS: ethics; genetic databases; predisposition; genetic privacy.

Assessing GJB2/GJB6 Testing and Counseling as Adjunct to Newborn Hearing Screening C. Palmer, A. Martinez, M. Fox, B. Crandall, N. Shapiro, M. Telatar, Y. Sininger, W. Grody, and L. Schimmenti University of California, Los Angeles, California Introducing genetic information into the early hearing detection and intervention (EHDI) process may streamline diagnosis and treatment of infants with hearing loss by providing information regarding case management, differential diagnosis, habilitation, and etiology. Because mutations in GJB2/GJB6 represent the most common genetic cause of hearing loss, discussion has centered upon including GJB2/GJB6 testing within the EHDI process. Before genetic testing is applied universally, it is important to understand when to introduce such testing and counseling into the EHDI process. Further, it is important to understand how the limitations of genetic testing at only 2 loci for a heterogeneous condition influence parental understanding, anxiety, and perceived personal control. Here we describe a prospective, longitudinal study in an ethnically diverse population to


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assess the impact of including GJB2/GJB6 testing and counseling in the EHDI process. Testing is offered at 2 time points in the process: (1) after failure of inpatient newborn screening but before final diagnosis (prediagnosis) and (2) after the audiologic diagnosis of hearing loss (postdiagnosis). Families are eligible if the child with (potential) hearing loss has no other known medical complications and is under 2 years. Following informed consent through parental genetic counseling, genomic DNA from participating infants is subject to mutation analysis (GJB2: 35delG, 235delC, 167delT; GJB6: 342 kb deletion) followed by GJB2 sequencing as needed. Parents provide family history and demographic information and complete questionnaires assessing anxiety, perceived personal control, risk perception, attitudes toward genetic testing, and understanding at enrollment, 1-month and 6month postgenetic counseling for results disclosure. All infants are evaluated by a clinical geneticist, and medical and audiology records are obtained for up to 4 years. To date, 7 ethnically diverse families (Caucasian, Hispanic, Asian), with no other family history of congenital hearing loss, have enrolled in the postdiagnosis group. At enrollment, all parents felt that genetic testing could help them understand why their child has hearing loss, and the majority felt that it was “somewhat likely” that their child had GJB2/GJB6-related hearing loss. Three of the 5 babies with test results were found to have 2 GJB2 mutations (35delG/35delG, 35delG/311del14, 235delC/235delC); 1 month following results, these parents responded that their child “definitely” had GJB2-related hearing loss. Hearing loss of 2 babies was not explained by genetic testing; these parents responded that it was “not at all likely” that their child had GJB2-related hearing loss 1 month following results, and that testing did not help them understand the cause of the hearing loss. This early experience suggests that parents have reasonable expectations of genetic testing and understand the results. KEY WORDS: hearing loss; newborn hearing screening; genetic testing; connexin.

Attitudes Toward Genetic Testing and Genetic Research in an African American Population E. Regier, A. Matthews, C. Curtis, M. Marsick, K. Tufts, and N. Robin Case Western Reserve University, Cleveland, Ohio While advances in genetic research have been viewed favorably by the public, concerns have been expressed. Prominent is the fear of discrimination based on genetic test results. While this has been expressed in all groups surveyed, it has particular relevance for African Americans (AA) as they have been found to hold negative opinions toward the medical establishment and biomedical research. As a consequence, AA have been underrepresented in medical research, leading to fewer medical advances that directly impact this population. These negative attitudes have been traced to several historical events, including slavery, the Tuskegee


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syphilis study, and the Sickle Cell Prevention Act. The purpose of this study was to determine if these attitudes extend to clinical genetic services, genetic testing, and genetic research. One hundred four AA were surveyed regarding their attitudes towards genetic testing and genetic research, willingness to participate in a hypothetical genetic research protocol, and knowledge of past historical events. Participants were ascertained from 4 groups: premedical students in a summer enrichment program, church members, members of a community business organization, and patients from a clinic that serves lower socioeconomic communities. We found an overall favorable attitude toward genetic testing and genetic research, with 72% indicating that genetic research was beneficial, and 88% that genetic services were an important component of health care. However, 23% were concerned about genetic testing and research leading to racial discrimination. When present, these concerns had a significant impact on willingness to participate in a genetic testing research protocol. Overall, 52% stated they would be willing to give a DNA sample for the hypothetical research study. Moreover, the majority of participants (82%) indicated that they trusted their physicians to give them accurate test results, and the premedical students indicated that genetics would be an important part of their future practices (83%). These findings indicate that, while overall attitudes towards genetics were positive, concerns about racial discrimination are still common. Those with such concerns were unlikely to participate in a genetic research study. Attitudes were favorable towards genetic services, suggesting that the recognized underutilization of genetic services by AA may be due to a lack of access. Lastly, the positive attitudes towards their primary physician suggest that targeting primary care physicians serving the AA community may be the best way to increase this population’s use of genetic services. It is imperative that genetic counselors be aware of potential concerns for different ethnic groups, such as the AA community, and address these issues openly with clients in either the clinical setting or when recruiting for research protocols. KEY WORDS: African American; discrimination; genetic testing; research.

First Documented Use of PUBS in the Prenatal Diagnosis of Facioscapulohumeral Muscular Dystrophy A. Wray, H. Landy, N. Carson, A. Ghidini, and J. Meck Georgetown University Hospital, Washington, District of Columbia We report here on the first use of percutaneous blood sampling (PUBS) in the prenatal diagnosis of FSH. Facioscapulohumeral Muscular Dystrophy (FSH) is an autosomal dominant condition that can result from deletion in a 4q35 allele. Prenatal FSH DNA testing is currently available at only one laboratory in North America (Children’s Hospital of Eastern Ontario, CHEO). Prenatal testing is usually performed on cultured chorionic villi and amniocytes. The expected


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turnaround time is partially dependent upon the culture; once there are enough cultured cells (typically 2–3 weeks), the DNA testing requires 10 days to 2 weeks. Thus, final results from cultured chorionic villi and amniocytes can take at least 4–5 weeks. A Caucasian couple was referred to prenatal genetic counseling secondary to the husband’s diagnosis of FSH, confirmed by a 4q35 deletion. CVS performed at 12 weeks resulted in cultured villi being sent to CHEO for analysis. Cells detached from the flasks in transit, necessitating the need for further culturing on arrival at CHEO. DNA analysis revealed maternal cell contamination, giving ambiguous results. Therefore, a new sample of fetal cells was needed and the couple elected to have PUBS performed in order to shorten the time delay of test results by removing the need for long-term cell culturing. FSH prenatal testing was performed on the fetal blood specimen; this was the first time analysis was performed on fetal blood. Results indicating the presence of the paternal 4q35 deletion were available within 2 weeks and the pregnancy was terminated. We conclude that fetal blood is an excellent source for rapid prenatal diagnosis, especially with advanced gestational age during pregnancy. KEY WORDS: prenatal diagnosis; genetic counseling.

VII. PEDIATRICS Molecular and Phenotypic Characterization of 9p23–p24.3 Deletions S. Biton, A. Matthews, C. Crowe, T. Hassold, and S. Schwartz Case Western Reserve University, Cleveland, Ohio The 9p deletion syndrome is a well-established deletion syndrome, but with a variable phenotype. A deletion involving a region on 9p22.3 (the “critical region”) has been specifically implicated in the presence of hallmark clinical manifestations, usually detected at birth including trigonocephaly, upslanting palpebral fissures, wide flat nasal bridge, arched eyebrows, hypertelorism, long philtrum, anteverted nostrils, micrognathia, short and broad neck, widely spaced nipples, long middle phalanges, hyperconvex nails, and an increased number of dermatoglyphic whorls. These children also demonstrate moderate to severe mental retardation, and a sociable personality. To date, no study has investigated the correlation between karyotype and phenotypic presentation among individuals with smaller deletions, i.e., those deletions distal to and not including the “critical region.” Clinical recognition of these patients is important, because small terminal deletions of 9p may be missed by routine conventional cytogenetics. Moreover, because of the lack of information regarding these patients, genetic counseling, estimation of recurrence risk, and prenatal diagnosis is problematic. The purpose of this study was to better correlate phenotypic to karyotypic findings of patients that display abnormalities due to a deletion of the terminal region of 9p (i.e., outside the delineated “critical


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region”). Fourteen patients with deletions of 9p23–p24.3 were studied. To our knowledge, this is the largest cohort of patients with 9p23–p24.3 deletions to be systematically studied. These patients presented with different deletion sizes and different phenotypic features not usually seen with patients whose deletion is within the “critical region.” High resolution chromosome analysis, microsatellite, and molecular cytogenetic (FISH) analysis were utilized to define the breakpoints, the extent of the deletions, and their parental origin. Over 50 different BAC probes were utilized to resolve these breakpoints. The results from this study yielded several interesting and important findings including (1) a lack of specific hotspots for breakpoint occurrence; (2) a statistically significant number of paternally derived deletions; (3) a preliminary phenotypic map of the investigated region in which different intervals were associated with specific phenotypic features such as cardiac and ocular manifestations; (4) that all patients presented with hypotonia, developmental delay, and behavioral abnormalities regardless of the size of the deletion; and (5) that all of these patients showed no facial dysmorphic features. Establishment of phenotypic maps should be useful to genetic counselor and medical geneticists both prenatally and postnatally. The results of this study will assist in diagnosis, provision of more accurate prognosis, and facilitation of decision making. Moreover, this information should also allow for the improvement of clinical management, anticipatory guidance, and risk counseling. KEY WORDS: chromosome abnormalities; cytogenetic analysis; parent-of-origin.

Hereditary Multiple Exostosis and Pain: To What Extent Is Pain Associated With HME? S. Darilek, D. Johnston, A. Scott, D. Novy, and J. Hecht The University of Texas Health Science Center at Houston, Houston, Texas Hereditary multiple exostosis (HME) is a skeletal disorder characterized by the presence of numerous bony outgrowths (exostoses) that develop next to the growth plates of all bones of the body. Much research has been undertaken to delineate the natural history of HME and characterize the problems associated with it, however, past studies have not looked at pain in individuals with the condition. The present study was undertaken to characterize pain in individuals with HME. The specific aims of this study were to determine (1) what proportion of individuals with HME has pain, (2) whether the pain is isolated or generalized, (3) if there are differences in pain between genders and age groups, and (4) to what extent the pain in individuals with HME is associated with surgery for HME-related complications. A questionnaire specifically designed to assess an individual’s pain as well as its impact on his or her life was sent to each participant. A total of 293 individuals with HME took part in this study. Eighty-four percent of individuals reported having pain, with 45.3% having pain daily. Of those who reported having


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pain, 55.1% have generalized pain. Two factors were found to have a significant influence on pain, having complications secondary to HME, such as compression of tendons, nerves, and blood vessels, and having surgery. Individuals who have complications due to having HME are 5 times more likely to report having pain, whereas individuals who have had surgery are 3.8 times more likely to report having pain. A significant age difference was also found between those who report having pain and those who do not, with significantly fewer individuals under the age of 11 reporting pain. In this study, no significant differences were found between males and females with respect to pain, surgery, or having complications secondary to having exostoses. This may indicate that males are not more likely to have a more severe form of HME than females, as was previously reported. Additionally, it was found that significantly more individuals who are members of the HME support group report having pain. The results of this study indicate that the number of individuals with HME who have pain has been underestimated. Pain is an important aspect of HME that must be addressed when caring for individuals with this condition. Prospective studies looking at pain in individuals with HME are needed to better understand when individuals start to develop pain, if their pain experience changes over their lifetime, and what the underlying pain process is. KEY WORDS: hereditary multiple exostosis; pain measurement.

Investigation of the Etiology of Congenital Hearing Loss: Issues for Genetic Counseling K. M. Dent, J. C. Palumbos, S. Maxwell, R. Mao, A. Kenneson, and J. C. Carey University of Utah Medical Center, Division of Medical Genetic, Salt Lake City, Utah At least 50% of permanent childhood-onset hearing loss is due to genetic causes. Approximately 20% of all infants with prelingual hearing loss have mutations in a single gene, the GJB2 gene, encoding the connexin 26 protein. Another 1% is due to mitochondrial DNA (mtDNA) mutations. The University of Utah in collaboration with the Centers for Disease Control and Prevention is participating in a study designed to investigate the etiology of congenital hearing loss in infants ascertained through state-mandated newborn hearing screening or early hearing loss detection and intervention (EHDI) programs. The primary objectives of the study are to (1) classify the etiology of infants with congenital hearing loss by prospectively evaluating all newborns with permanent hearing loss from a genetic perspective, (2) determine the frequency of mutations in GJB2 and 2 common mitochondrial mutations in this population, and (3) establish a model infrastructure linking genetic services to statewide EHDI programs. Study participants identified through the Utah Department of Health EHDI program are offered a comprehensive


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medical genetics evaluation and DNA testing for GJB2 and mitochondrial mutations A1555G and A7445G. To date, 25 probands and their immediate family members have been evaluated. We have identified 20 cases with nonsyndromic hearing loss (7 familial and 13 sporadic), 4 with syndromic hearing loss, and 1 case with cytomegalovirus-induced hearing loss. Six of 19 (32%) nonsyndromic cases with sensorineural hearing loss have mutations of one or both alleles of the GJB2 gene, and 21% are homozygous or compound heterozygotes for the 35delG mutation. These numbers are consistent with previously reported classifications of the etiology of congenital hearing loss. No A155G or A7445G mtDNA mutations have been found. Identification of the etiology of an infant’s hearing loss allows for accurate genetic counseling and estimation of recurrence risk, avoidance of unnecessary and costly additional testing, and anticipatory guidance in terms of management and potential health problems. Interpretation of test results and estimation of recurrence risks presents a challenge to genetic counselors in the cases of those individuals in whom only one GJB2 disease-causing mutation is identified. KEY WORDS: connexin; hearing loss.

Exploration of the Neurobehavioral Aspects of Marfan Syndrome S. Grimes, A. Matthews, J. Bubb, M. Drumm, C. Landis, and G. Wiesner Case Western Reserve University, Cleveland, Ohio Children with Marfan syndrome (MFS) may be at increased risk for attention problems, learning difficulties, and hyperactivity. Clinical observation also suggests there is a subset of children with MFS who have decreased energy and poor coordination. Only 2 reports on a small number of patients have been published exploring a possible association between learning difficulties, reduced activity, and motor delays in children with MFS. In an effort to further delineate these associations, this study examined parent perceptions of development and neurobehavioral problems in children followed in a multidisciplinary MFS clinic. Fifty parents of children (aged 7–21) with MFS and 212 control parents were asked to participate. Parents of 20 children with features of MFS compared to a group of 34 unaffected, similarly aged control children completed mailed questionnaires. Specifically, respondents were asked to comment about their child’s motor and speech development, activity level, attention, and learning problems. Parents were also asked to complete the Child Behavior Checklist, a well-validated, extensively utilized questionnaire designed to assess parent-reported competencies and behavioral problems in school-aged children. Overall, children with features of MFS were perceived by parents to have more speech problems ( p = .023) and motor deficits ( p = .018) than control children. Children with features of MFS were also significantly more likely to have decreased activity levels ( p < .001) compared to unaffected peers. Additionally, the reported prevalence of learning problems was


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higher in children with MFS or suggestive MFS than in control children, with 30% of affected children carrying a diagnosis of a learning disability. Respondents of affected children were more likely to indicate that their child was experiencing attention problems, although affected children were not more likely to carry a diagnosis of attention deficit/hyperactivity disorder. Moreover, affected children were reported as having more withdrawn/depressed behaviors and social problems compared to their unaffected peers. These results support and further strengthen previous findings of an association between attention problems and learning difficulties in children with features of MFS. Furthermore, affected children may be at increased risk for speech and motor delays, as well as for decreased psychosocial functioning. These results may help genetic counselors work with children with MFS to provide anticipatory guidance and appropriate intervention services for attention problems, learning difficulties, and speech and motor delays. Further, as these results also demonstrated a marked decrease in activity levels as well as social problems, genetic counselors should encourage children with MFS to maintain an active lifestyle through the selection of appropriate physical activities and provide additional support in coping with their genetic condition. KEY WORDS: children; Marfan syndrome; attention deficit disorder.

“Family Matters”: A Conceptual Framework for Genetic Testing in Children A. McConkie-Rosell and G. Spiridigliozzi Duke University Medical Center, Durham, North Carolina Genetic testing in minor children presents as a complex ethical and social problem. Current guidelines state that genetic testing of children is recommended only under circumstances where a clear medical or psychosocial benefit to the child can be demonstrated. Because of the difficulty in determining a psychosocial benefit the discussion about genetic testing of minors ultimately tends to focus on who has the right to make the decision and whose right to autonomy is jeopardized, the parent’s or the child’s when there is no identified medical benefit. Historically, a traditional bioethics paradigm, Principlism, has been used to guide genetic counseling sessions and the development of genetic testing guidelines for minors. This bioethics paradigm is guided by the principles: (1) respect for autonomy, (2) beneficence, (3) nonmaleficence, and (4) justice. Genetic counseling sessions attempting to balance the 4 principles without taking into account the social context may result in a conflict between 2 value systems, the medical community’s and the family’s. Additionally, because this traditional bioethics paradigm has a strong emphasis on individual autonomy, the family’s beliefs and values and parental concern for their children may be overshadowed by the medical community’s attempt to preserve the child’s rights to an autonomous decision about genetic testing. A traditional


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bioethics paradigm may also have a negative effect on the communication process between families and genetic counselors. Lindemann Nelson and Lindemann Nelson have proposed a theory of the special moral values of intimacy, which they call “family ethics” that can be applied to the issue of genetic testing in children. In contrast to a nonintimate context in which there is an expectation that individual rights will be the primary focus, the intimate context of family establishes a setting in which caring and concern for members filters the universality of individual rights and duties. This model incorporates the 4 basic moral principles, but unlike the traditional bioethics paradigm, which focuses on the individual and individual rights, the ethics of family is characterized by collectivity, favoritism, particularity (shared ongoing history), nonconsenuality, and a premodern sensibility (grounded in old values and a modern sense of what is “right”). The purpose of this presentation is to first discuss the circumstances in which genetic testing of minors occurs and then present an ethics- and theoretical-based conceptual framework using family ethics and family stress theory that may be useful in the development of genetic counseling interventions. KEY WORDS: ethics; children; family systems; genetic testing.

Autism Associated With an Interstitial Deletion of Chromosome 4q31.3–q34.1 S. Ramanathan, A. Woodroffe, P. Flodman, M. Bocian, L. Mays, C. Modahl, M. A. Spence, and M. Smith University of California Irvine, Irvine, California Autism is a devastating disorder of childhood, the diagnosis of which has become more frequent in recent years. Although the disorder is considered to be etiologically heterogeneous, family and twin studies in autism have established a definite genetic basis. The inheritance of idiopathic autism is presumed to be complex, with many genes involved, and possibly contributory environmental factors. This case report is the first of a child who meets criteria for autistic disorder with an interstitial deletion on chromosome 4q. According to the mother, an amniocentesis performed during the pregnancy had been reported as being normal. The initial peripheral blood karyotype analysis on the child showed a deletion on chromosome 4q, but was unable to distinguish whether it was interstitial or terminal. The purpose of this study is to delineate the deletion. Dysmorphology noted in the child included metatarsus adductus, bilateral cryptorchidism, bilateral 2nd–3rd toe syndactyly, and bilateral 5th finger clinodactyly. Generalized hypotonia was seen. Psychometric evaluations to confirm the diagnosis of autism were the Autism Diagnostic Interview—Revised (ADI-R) and the Autism Diagnostic Observation Schedule—Generic (ADOS-G). On the Stanford–Binet Scales of Intelligence, the child’s IQ score was 59. At the age of 11 years and 10 months, he was at the age


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Pre/Perinatal Genetics

equivalent of 4 years 11 months in receptive vocabulary and 3 years 6 months in communication skills. The parents reported that their child has particular areas of high functioning ability. He has an uncanny sense of direction and can manipulate complicated audio and computer equipment at home. Fluorescence in situ hybridization (FISH) analysis using BAC (bacterial artificial chromosome) clones revealed a 19 Mb deletion, spanning 4q31.3–q34.1. In addition, genotyping of the child and his parents using polymorphic markers in the deleted region showed that the deletion arose de novo in the paternally derived chromosome. Genes in the deleted region were identified from the Human Genome Resources database at NCBI. A total of 33 genes expressing proteins with known or inferred function were identified. Of these, 14 are expressed in the brain and can potentially be involved in the etiology of autism. They include the glutamate receptor A2, the glycine receptors β and α3, carboxypeptidase E, and glycoprotein M6A. Further studies of these genes in other patients are needed to confirm their role in autism. This study demonstrates the importance of karyotype analysis on children with autism who have only minor physical anomalies or who have had analysis several years ago. Molecular analysis of chromosome deletions in participants with autism will facilitate identification of candidate genes for autism. KEY WORDS: autism; chromosomal abnormalities.

VIII. PRE/PERINATAL GENETICS Folic Acid: Does Increased Knowledge Result in Increased Utilization? V. Banks, M. Monga, D. Johnston, L. Swaim, M. Strecker, P. Robbins-Furman, and H. Northrup University of Texas Houston Graduate School of Biomedical Sciences, Houston, Texas Studies have found that open neural tube defects can be reduced by 50–70% with the daily intake of 400 µg of folic acid. Because of the low level of compliance with folic acid consumption recommendation, the March of Dimes began a $10 million, 3-year national folic acid campaign to increase women’s knowledge and promote utilization of folic acid. The purpose of our study was to determine if knowledge about periconceptional folic acid supplementation (PFAS) differs between socioeconomically diverse populations and results in increased utilization. Our study differs from other studies in that none have assessed factors that influence knowledge and utilization of periconceptional folic acid in pregnant women in an urban American center prior to physician contact. From 2 clinic sites, a total of 405 previously validated questionnaires were collected from women presenting for their first prenatal visit prior to being counseled by a health care professional. These 2 clinics were then used to compare knowledge and utilization of periconceptional folic acid.


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Between September 2001 and February 2002, 253 participants enrolled at Clinic A and 156 at Clinic B. Seventy-three percent from clinic A and 32.6% from Clinic B knew that folic acid taken before pregnancy reduced spina bifida ( p < 0.001). PFAS was 32.7% in Clinic A and 4.9% in Clinic B ( p < .001). Knowledge increased PFAS 34-fold (95% CI: 4.38, 265.6). Income (χ2 = 31.8, p < .001), number of people in the home (χ 2 = 8.0, p = .005), material and household items owned (χ2 = 6.0, p = .01), knowledge of foods as sources of folic acid (χ 2 = 5.0, p = .025) predicted folic acid utilization 71% of the time. We conclude that knowledge about periconceptional folic acid is increased in higher socioeconomic women and results in increased supplementation, however, use remains low. Our study suggests that public health campaigns have been successful in increasing the awareness of folic acid in women of both higher and lower socioeconomic status in Houston but less successful in changing behavior. We should continue targeting lower socioeconomic status women about the benefits of periconceptional utilization of folic acid as well as continue educating higher socioeconomic status women about the importance of periconceptional utilization of folic acid. KEY WORDS: folic acid; knowledge; neural tube defects.

Physician Attitude Toward Controversial Applications of Preimplantation Genetic Diagnosis K. Benson, L. Udoff, and C. Escallon University of Maryland School of Medicine, Baltimore, Maryland As a new technology, preimplantation genetic diagnosis (PGD) has raised much discussion. Perceptions of the capabilities of PGD produce a great deal of fear and concern within both the medical community and the general public. The idea of “designer babies” stems from worries of selection for trivial medical conditions and nonpathological characteristics. Additionally, the number of disorders that can be diagnosed and avoided with the use of PGD continues to expand and there are a number of indications that may warrant apprehension. Qualitative research regarding PGD is limited, especially from the viewpoint of physicians. Studies have been performed investigating the concerns of both genetic professionals and patients, providing insight into their attitudes towards the technology. The purpose of this study was to investigate the attitudes of physicians who offer PGD and who are faced with the potentially controversial requests of couples. The sole means of assessment was a survey presenting 13 case scenarios for a review. The scenarios were constructed to reflect the following indications: sex selection (family balancing and de novo sex selection), carrier status of transferred embryos, transfer of affected embryos, selection for HLA typing to treat an affected sibling, late-onset disorders (Huntington’s disease and early-onset Alzheimer’s disease) and patient autonomy (i.e., transfer of male embryos at risk for an X-linked


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condition per patient’s request). Respondents were asked to indicate either yes or no as to whether they would or would not offer PGD. One hundred sixteen surveys were returned, yielding a 33.6% response rate. Overall, physicians tend to be supportive of the use of PGD to improve quality of life and prevent disease. The majority are not willing to offer PGD for sex selection, nor are they comfortable creating a child with a known genetic disease. They are most willing to respect patient’s wishes with regards to both the carrier status of transferred embryos and the request of PGD for HLA typing, even if the selection would be made purely for HLA genotype. The majority of physicians are also willing to continue with transfer following PGD for late-onset conditions, even if a parent is symptomatic. In terms of the future, most physicians are optimistic that PGD will continue to be used to prevent disease while others fear the potential of a eugenics relapse. The results from this study provide unique insight into the willingness of physicians to offer PGD and highlight the necessity to further explore the development of guidelines for its use. KEY WORDS: attitudes; preimplantation genetic diagnosis; sex selection.

The Importance of Providing Genetic Counseling for Prenatal Paternity Cases B. Beyer, L. Gardner, B. Dugan, P. Devers, A. Gilbert, and A. Johnson Hutzel Hospital/Wayne State University, Detroit, Michigan Public information regarding paternity testing is widely seen spanning billboards, magazine ads, and daytime talk shows. With an increase in public information regarding the potential accuracy and low cost of these tests, the demand for paternity testing in pregnancies has amplified. Interested individuals contact diagnostic laboratories to discuss details and schedule appointments through hospitals or physician offices for prenatal testing. During the phone consultation, DNA laboratories review costs, detection rate, and sample collection processes with the patient (including the availability of the CVS or amniocentesis procedures). Laboratories do not suggest or require genetic counseling as a necessary component of sample collection, nor make mention of the available service on either brochures or website information. The Division of Reproductive Genetics at Hutzel Hospital in Detroit, Michigan, receives referrals for prenatal paternity testing. From 2000 to 2003, 42 patients were referred for prenatal paternity testing. As our policy, all patients referred for testing received genetic counseling prior to the procedure. Genetic counselors reviewed the diagnostic procedure including risks and accuracy. The availability of fetal chromosome testing, or screening for chromosome abnormalities, was also discussed. Family and pregnancy histories were obtained and appropriate carrier screening based on ethnicity was reviewed. Potential risks to the fetus derived from this information were then discussed. Sixteen out of


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42 patients (40%) presented information that posed an increased risk to the fetus. These factors included genetic conditions in the family history (16%), positive ethnic screening (7%), advanced maternal age or abnormal maternal serum screening (7%), ultrasound or chromosomal abnormalities (5%), and medication exposure (2%). Each scenario required additional risk analysis and possible supplementary testing of the fetal sample. This study exemplifies the importance of genetic counseling prior to an invasive prenatal procedure for paternity testing. We additionally use this study to construct a recommendation for paternity testing laboratories for appropriate genetic consultation, and offer guidelines for genetic counselors in counseling patients referred for prenatal paternity testing. KEY WORDS: genetic counseling; prenatal; paternity.

The Role of a Prenatal Genetic Counselor in a Research Study Regarding Childhood Follow-Up of Prenatally Diagnosed Intracardiac Echogenic Foci M. Carpenter and R. Chard Maine Medical Center, Portland, Maine Fetal intracardiac echogenic foci (ICEF) represent papillary muscle calcifications and fibrosis of unknown etiology. A common aneuploidy marker, ICEF are associated with an increased frequency of fetal chromosomal abnormalities. The objective of this study was to address cardiac function in children with prenatally diagnosed ICEF. In preparation for this study, the genetic counselors were required to complete the 12-part Collaborative IRB Training Initiative Human Subject Research Course. A review of our database from 1994 to 1999 identified 113 children, now between the ages of 2 and 7 years, who were prenatally diagnosed to have 1 or more apparently isolated ICEF. The ultrasound charts were reviewed to verify the presence of the ICEF, and to ensure inclusion criteria for the study. Twenty-two participants were eliminated because of aneuploidy or multiple gestation, or because their parents were non-English-speaking. Fifty-three children’s parents were lost to follow up. A Board Certified Genetic Counselor initiated contact with the parents of the potential participants. The study was introduced, the objective was explained, and the procedure for having the echocardiogram was described. Much of the time spent on these phone calls was focused on explanation of the nature of ICEF and in reassurance of the parents that their child was not suspected to be at risk for significant heart disease. Parents were given as much time as needed to ask questions prior to deciding whether they would enroll their child in the study. Seven parents declined participation. When the child arrived for the echocardiogram, they and their parent(s) met with the genetic counselor to review and sign consent forms. They were then accompanied to the cardiology office. In many cases, the genetic counselor remained with the family during the echocardiogram. Twenty-five children were examined and ICEF persistence noted in 18 (72%). Four


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participants did not keep their appointments for echocardiography. Two children were uncooperative and the echocardiogram could not be completed. Criticisms of this study have addressed the small number of participants; the bias on the part of the cardiologist (blinded only to the location but not the history of ICEF), and the lack of a control group of gender-matched children known not to have a prenatally diagnosed ICEF. However, results showed that ICEF persist into childhood in 72% of cases and that children with ICEF do not have significant functional or structural heart disease. We conclude that following a prenatal diagnosis of ICEF, parents can be reassured that although it is likely to persist, it is unlikely to be associated with childhood cardiac dysfunction. KEY WORDS: intracardiac echogenic foci; outcome assessment; prenatal diagnosis ultrasound.

Does Educational Information About Genetic Counseling Affect Client Satisfaction With Prenatal Genetic Counseling Services? J. Chibuk, M. Murray, J. Tsipis, and M. House Brandeis University, Waltham, Massachusetts Clients may have varied expectations when arriving for a prenatal genetic counseling appointment, and meeting client’s expectations has been associated with increased satisfaction with health care. Our objective was to assess the impact of an educational brochure about the process of genetic counseling on postcounseling client satisfaction. We also assessed its impact on client anxiety and knowledge of the risks in pregnancy. By designing and offering an educational brochure about the process of genetic counseling to clients before their session, we hoped to aid clients in forming realistic expectations about what genetic counseling could offer to them. By meeting these expectations in the genetic counseling session, we expected an increase in reported satisfaction levels. This study describes the satisfaction levels of a consecutive cohort of clients (n = 37) and their partners (n = 19) referred for prenatal genetic counseling to an urban hospital over an 8-week period, representing 88.9% of those invited to participate. Individuals were randomized into 2 groups: an experimental group who received an educational brochure before genetic counseling (n = 18 clients, 10 partners), and a control group who did not receive the brochure (n = 19 clients, 9 partners). Immediately following genetic counseling, and prior to any scheduled ultrasound or invasive procedure, clients and their partners were asked to complete a brief questionnaire to assess their satisfaction with the genetic counseling, their understanding of risks in pregnancy, anxiety, and preferred source of information about the availability of genetic counseling services. The questionnaire included Likert scale and multiple-choice questions. There was not a significant difference in mean reported satisfaction levels between the control and experimental groups, although overall satisfaction was very high (3.86–3.92 on a 4-point Likert scale).


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When individuals strongly agreed that their expectations had been met (n = 45), there was an increase in satisfaction levels when compared to individuals who agreed less (n = 9). After genetic counseling, increased understanding of the risks in pregnancy was associated with decreased anxiety and increased satisfaction. Both clients and their partners would have preferred to learn about the availability of genetic counseling services before they were pregnant, or very early in the pregnancy. In conclusion, satisfaction with prenatal genetic counseling in our study population is very high. Meeting client expectations and educating clients about risks in pregnancy influence satisfaction and anxiety. Clients are open to receiving written materials about genetic counseling from their obstetricians and primary care physicians, and would prefer them as early as possible in their family planning. KEY WORDS: genetic counseling; patient education; patient satisfaction; outcome assessment.

Dandy–Walker Variant and 47,XXY G. Jervis, J. Angel, M. Jodah, and B. Kousseff University of South Florida Regional Genetics program, Tampa, Florida Dandy–Walker malformation is characterized by (1) hydrocephalus, (2) cyst in posterior fossa, and (3) defect in cerebellar vermis through which the cyst communicates with the 4th ventricle. Dandy Walker variant shows smaller 4th ventricle cyst, less vermian hypoplasia, and less severe or absent hydrocephalus. Dandy–Walker malformation/variant can be part of Mendelian disorders, including Meckel–Gruber and Walker–Warburg syndromes, of chromosomal abnormalities, including trisomies 13, 18, 21, and Turner syndrome or due to teratogens, including alcohol, coumadin, and maternal diabetes. Klinefelter syndrome is the most common sex chromosome abnormality with an incidence of 1.18 per 1,000 births. Clinical features include postpubertal small atrophic testes, small penis, gynecomastia, tall stature, and dull mentality. Twenty percent of men with Klinefelter syndrome have major malformations with no clear pattern, including cleft palate, unilateral renal agenesis, microcephaly, and omphalocele (Gorlin, Syndromes of the head and neck, 4th ed., 2001, p. 62). We present a 33-year-old Caucasian woman, G4P0030, 3 first trimester spontaneous abortions, with an elevated MSAFP of 2.66 MoM, resulting in a 1 in 213 ONTD risk. Prenatal sonogram at 17 weeks showed an 8.9-cm cystic mass in the posterior fossa that communicated with the 4th ventricle at the level of the inferior cerebellar vermis, Dandy-Walker variant. Amniocentesis revealed 47,XXY. Termination was performed at 19 weeks. We were able to find one case report of isolated mild ventriculomegaly and Klinefelter syndrome, one case report of a fatal cerebral AV malformation in Klinefelter syndrome, and several reports of seizures and essential tremors in men with Klinefelter syndrome. The Dandy-Walker variant and Klinefelter syndrome in


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our patient could be coincidental, because both conditions are relatively common. However, this case emphasizes the importance of offering chromosome analysis whenever fetal sonogram reveals CNS anomalies and suggests that Dandy-Walker variant may be a feature of Klinefelter syndrome. KEY WORDS: Dandy–Walker abnormalities.

variant;

Klinefelter

syndrome;

ultrasound;

chromosome

Invasive Trophoblast Antigen (ITA) Utility for Prenatal Down Syndrome Detection: Preliminary Results From a Prospective Study D. LaGrave, D. Hildebrandt, E. Carlton, J. Lee, T. Vendely, C. Strom, and R. Pandian Quest Diagnostics Nichols Institute, San Juan Capistrano, California Current standard-of-care methods for prenatal Down syndrome (DS) screening identify only 60–75% of DS cases at a 5% false positive rate (FPR). To achieve this detection rate (DR), three to four biochemical markers are combined with maternal age: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and dimeric inhibin-A (DIA). In an effort to improve screening performance, we are conducting a prospective clinical trial to test the utility of a new marker known as hyperglycosylated hCG, or ITA. We report here early results from this ongoing study. The study protocol was approved by the California State Department of Health Services IRB and, when required, by individual collaborator IRBs. Women scheduled for a second trimester (14–22 weeks gestation) amniocentesis, primarily due to advanced maternal age, were included in the study. Women with a history of maternal serum screening in this pregnancy were excluded from the study. All 715 women provided informed consent, a random urine sample collected prior to amniocentesis, and demographic and pregnancy-related information. The demographic information was sent along with selected ultrasound information (e.g., gestational dating by biparietal diameter and number of fetuses) and karyotype to the Foundation for Blood Research (FBR). Additionally, the Quest Diagnostics laboratory sent urinary ITA test results to the FBR where they were converted to multiples of the median (MoM) and adjusted for maternal weight and creatinine concentration. All laboratory testing was performed without knowledge of the karyotype. Karyotyping identified 12 DSaffected pregnancies, 10 of which were collected within the desired timeframe (15–20 completed weeks of gestation). The average MoM was 5.06 for the 10 cases, and all but 2 were at or above the 95th centile. These early results from our ongoing prospective clinical study suggest that ITA may prove to be the most effective single marker to date for predicting DS-affected pregnancies in the second trimester. KEY WORDS: Down syndrome; maternal serum screening; pregnancy.


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Genetic Counselors’ Descriptions of Down Syndrome: Promoting Informed Choice for Prenatal Testing E. Lardy, B. Wilfond, and B. Biesecker Obstetrix Eastside Maternal Fetal Medicine, Bellevue, Washington Prenatal diagnosis is offered to pregnant women aged 35 and older because of their increased risk of having a child with Down syndrome or another chromosomal anomaly. Because there are no standard guidelines as to how Down syndrome should be described in a prenatal genetic counseling session, there may be tremendous variation in counselor’s individual practice. Members of the disability and genetic counseling communities have expressed concern that couples are not given a balanced and accurate portrayal of the nature of Down syndrome before prenatal diagnosis, and thus clients are not able to make informed choices about prenatal testing. The purpose of this study was to gain a better understanding of the ways in which Down syndrome is described in prenatal genetic counseling sessions and what factors might influence the description. A qualitative research design was employed to better understand how Down syndrome is described, to assess the type of personal experience prenatal genetic counselors have with people with developmental disabilities, and to describe counselors’ attitudes toward Down syndrome. One hundred and sixteen prenatal genetic counselors participated in 15-min phone interviews. The results suggested that the majority of counselors use a medical description of Down syndrome, most often mentioning mental retardation, facial features, and heart defects. Few counselors mentioned the capabilities of people with Down syndrome, and even fewer mentioned the positive aspects of Down syndrome. Most counselors appreciate both positive and negative aspects of Down syndrome, and believe that people with Down syndrome can have friendships, hold jobs, and go to school, but few point out these abilities in their prenatal descriptions of Down syndrome. This study facilitates understanding of what is said about Down syndrome in prenatal genetic counseling sessions and what factors might influence how Down syndrome is described. It brings into question the information presented to clients for making an informed choice about prenatal testing and has several implications for genetic counseling practice and further research. KEY WORDS: Down syndrome; genetic counseling; prenatal diagnosis; qualitative.

Telegenetics in Montana: The 1st Year S. Landgren, E. Smith, and D. Jackson Fetal Diagnostic Center, Billings, Montana Patient access to genetic medical specialists is limited in rural states. In Montana, the 900,000 residents are dispersed across 145,000 square miles, with the highest population density in the city of Billings with 89,000 residents. Within the


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health care system of Montana, there are currently 2 geneticists, located in the city of Helena, and 5 genetic counselors, 4 in Helena and 1 in Billings. Significant travel time and expense for patients seeking genetics consultation in Helena are major barriers for many families. To increase access to genetic services for Montana residents, a pilot program using existing telemedicine infrastructure was implemented in March of 2002 with grant support from the March of Dimes. The Fetal Diagnostic Center, a private perinatology practice in Billings, MT, served as the hub for referrals and coordination of these conferences. Since its inception, this pilot program has hosted 16 separate telegenetics consults. Indications for genetic consults have included gastroschisis, diaphragmatic hernia, cardiac defects, skeletal dysplasia syndromes, suspected chromosomal abnormalities, and Down syndrome. In addition, another 66 patients or families have been identified who could benefit from this service. Implementation of this pilot program for telegenetics in Montana has been successful, although the program has not been as well-utilized as anticipated. Barriers to implementation have included the full schedules of the geneticists, the limited number of geneticists within the state, limited dissemination of information regarding the availability of this program to primary care providers throughout Montana, and difficulty coordinating with patient schedules. The success of our 16 telegenetics consultations demonstrates the benefits of this program in Montana. The 66 patients still unserved clearly demonstrate the need for telegenetics in this state. We anticipate an expansion of our telegenetics program and believe this is a feasible goal, given the commitment of the geneticists and genetic counselors in Montana, the existence of a robust telemedicine infrastructure and the positive responses of patients and practitioners who have been supported by this program. To reach this goal, we are working to increase the effective recruitment of appropriate patients through primary care practitioners, and to secure future funding through insurance reimbursement or other outside sources. KEY WORDS: genetic counseling; genetic services; telemedicine.

Triple-Positive Maternal Serum Screening Results: Reported Pregnancy Outcomes Associated With This Uncommon Finding D. Needham, M. Bennett, M. Deschamps, and G. McDowell Laboratory Corporation of America, Research Triangle Park, North Carolina This study was designed to determine demographic factors, serum marker patterns, and pregnancy outcomes associated with second trimester maternal serum screens concurrently positive for open spina bifida, Down syndrome, and trisomy 18 (triple-positives). Pregnancy outcome data for this group has not been previously reported. Maternal serum 3 and 4 marker screens performed October 2000 through May 2002 were reviewed for triple-positive cases. Follow-up was obtained from information provided by the referring physician’s office, review of follow-up


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studies performed in our laboratory, and returned outcome request forms routinely accompanying abnormal results. Forty-four triple-positive cases were identified among a total of 658,857 maternal serum screens performed (0.0067%). All triple-positives occurred among women of advanced maternal age (average 40.3 years). No twin pregnancies were identified as triple-positives and 3/44 women were insulin-dependent diabetics. The typical marker pattern was elevated alphafetoprotein (median = 4.17 MoM, range = 2.01 in a diabetic woman to 99.21 MoM), decreased human chorionic gonadotropin on average with considerable variability (median = 0.69 MoM, range = 0.03–2.61 MoM), consistently low unconjugated estriol (median = 0.27 MoM, range, 0.05–0.48 MoM) and decreased dimeric inhibin in 5/6 cases screened (median = 0.62, range, 0.025–3.86). Outcome data was available for 25 cases (56.8%). Fetal demise was the most common outcome, occurring in 16 cases with at least 6 present at screening but not previously recognized. The majority of fetal demises were documented within 3 weeks of screening with only 1 case diagnosed 2 months later. None were reported to have chromosomal or physical anomalies, although this information was limited. We identified 2 cases of anencephaly and a single case each of trisomy 18, triploidy, premature rupture of membranes (17 weeks gestation), and holoprosencephaly with cardiac defect and omphalocele (karyotype not performed). Only 3 live births were reported, all described as healthy. The most significant contributors to the calculation of triple-positive results were advanced maternal age, elevated alphafetoprotein, and low unconjugated estriol. In our follow-up series, 88% (22/25) of cases with outcome data were abnormal. However, because outcomes were commonly provided voluntarily by the clinician, it is possible that abnormal outcomes are more frequently reported. Abnormal outcomes that were already diagnosed at the time initial result phone calls were made, such as fetal demise prior to screening, are also likely overrepresented. Overall, at least 50% (22/44) of triple-positive pregnancies had abnormal outcomes and women experiencing this result must be considered at significant risk for adverse pregnancy outcome. KEY WORDS: maternal serum screening; prenatal diagnosis.

Fetal Health Locus of Control Among Prenatal Genetic Counseling Clients E. Pastrovich, K. Ormond, and M. Barth Northwestern University, Chicago, Illinois The Fetal Health Locus of Control (FHLC) scale is a validated measure used to describe the extent to which pregnant women believe that the health of their unborn child is under their own control (FHLC-Internal), or is subject to other factors such as fate (FHLC-Chance) or health care professionals (FHLC-Powerful Others). Scores from the FHLC scale have been used to predict performance of health-related behaviors during pregnancy. However, the FHLC scale has not been


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implemented specifically within the prenatal genetic counseling population, where the health of the fetus is often discussed in terms of chance events, such as chromosome abnormalities. This study aims to (1) assess baseline and postcounseling FHLC and (2) identify factors associated with FHLC in this population. A total of 75 pregnant women completed self-administered written questionnaires both prior to and following genetic counseling at 4 Chicago-area institutions. Participants were mostly Caucasian (54.7%) and Christian (82.6%), averaging 33.2 years of age and 17.1 weeks gestation. Participants were referred to genetic counseling for maternal age (48.0%), abnormal serum screening (17.3%), or other indications. The mean FHLC scores were analyzed for changes between pre- and postcounseling surveys and compared to published mean FHLC scores of women surveyed prior to their routine obstetrical exams. On a scale of 0 through 54, with 54 being the strongest possible identification with the locus, mean precounseling FHLCInternal, FHLC-Chance, and FHLC-Powerful Others scores were 45.5, 33.8, and 28.1, respectively. There were no significant changes in FHLC scores from pre- to postcounseling. Our population’s mean FHLC-Chance scores were significantly higher than that of the reference population, both prior to and following genetic counseling ( p < .01). Neither client-reported indication for genetic counseling nor attitude towards abortion was correlated with precounseling or postcounseling FHLC subscale scores. However, a significant positive correlation (2-tailed, p < .05) was noted between FHLC-Chance scores and self-described degree of religiousness. There was also a significant positive correlation between the clients’ perceived risk of having an affected child and mean FHLC-Chance scores. Our participants’ higher mean FHLC-Chance scores may be a reflection of their identification as a “high-risk” pregnancy requiring genetic counseling services. However, prenatal genetic counseling does not appear to increase pregnant women’s belief in chance as a fetal health locus of control. The relationship between FHLC-Chance scores and clients’ religiousness and perceived risk of having an affected child may indicate that attribution of their fetus’ health to chance is part of a complex coping mechanism. Prenatal genetic counselors should be cognizant of this role for chance within their counseling sessions. KEY WORDS: perception; prenatal, genetic counseling; abortion.

Perceived Personal Control Among Prenatal Genetic Counseling Clients E. Pastrovich, K. Ormond, and M. Barth Northwestern University, Chicago, Illinois Genetic counseling provided in pediatric and adult genetics clinics has been shown to increase clients’ perceived personal control (PPC). This increase has been associated with psychosocial gains and greater client satisfaction with genetic counseling. However, PPC has not been assessed in prenatal genetic


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counseling clinics, where clients may be afforded an additional source of personal control by virtue of their various reproductive options. In this study, we assessed prenatal genetic counseling clients’ PPC both immediately prior to and following genetic counseling. A previously validated measure of PPC was used to produce a composite (General) PPC score, as well as 3 subscale scores representing unique domains of control—Cognitive, Behavioral, and Decisional. A total of 105 clients (75 pregnant women and 30 male partners) completed self-administered written questionnaires at 4 Chicago-area institutions. Participants were mostly Caucasian (57.1%), averaged 34.2 years old and 17.1 weeks gestation, and were referred for maternal age (48.0%), abnormal serum screening (17.3%), or other indications. The PPC scores were analyzed for changes between pre- and postcounseling surveys, and for associations with demographic information; client attitudes towards pregnancy termination; and client satisfaction with genetic counseling. On a scale of 0–2, mean precounseling PPC-Cognitive, PPC-Behavioral, PPC-Decisional, and PPC-General scores were 1.24, 1.67, 1.04, and 1.31, respectively. Compared to these baseline levels, mean postcounseling PPC scores were significantly higher across all 4 domains ( p < .01). Precounseling PPC-Cognitive and PPC-Behavioral subscale scores were significantly lower among clients who reported positive maternal serum screen results as their indication for genetic counseling ( p < .01 and p = .02, respectively). However, following the genetic counseling session, there were no significant differences in PPC scores when grouped by indication. Similarly, precounseling PPC-Cognitive and PPC-Decisional subscale scores were significantly higher among clients who indicated that pregnancy termination was an option for this pregnancy. After genetic counseling, there were no significant differences in PPC scores when clients were grouped by their termination viewpoints. Finally, all domains of the postcounseling PPC measure were positively correlated with client satisfaction ( p < .01). Our results indicate that, within this population (1) prenatal genetic counseling significantly increases clients’ perceptions of personal control (2) baseline differences in PPC related to clients’ indication for counseling and personal consideration of pregnancy termination are reduced to nonsignificant levels following genetic counseling, and (3) increases in PPC are associated with greater client satisfaction with genetic counseling services. Further qualitative studies are needed to identify what aspects of the genetic counseling session are particularly helpful in increasing clients’ perceptions of control. KEY WORDS: genetic counseling; perceived personal control; prenatal.

Autosomal Dominant Supralabial Skin Tags Without Cleft Lip R. Ruzicka, D. Miller, and R. Wassman University of California Irvine Medical Center, Orange, California A 39-year-old G4P3 woman presented for prenatal genetic counseling due to advanced maternal age. Family history revealed that the patient had a son, a brother,


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and a sister with small bilateral skin tags of the philtrum that did not extend from the nares. These individuals were otherwise healthy and none had cleft lip or palate. Ultrasound performed at 18 weeks gestation revealed a spheroid cystic mass in the midportion of the fetal philtrum. The genetic counselor and perinatologist reviewed with the patient the possibility of a chromosomal or genetic condition based on the appearance of the lip and nose. In addition, the patient was counseled that the ultrasound finding could represent a recurrence of the skin tags observed in her family members. The patient declined amniocentesis. The newborn had skin tags similar to those seen in the other family members that were surgically removed. He is currently healthy. This condition appears to represent an autosomal dominant trait with reduced penetrance, as our patient lacked these skin tags but had affected children. Other reports of genetic conditions with similar skin tags include clefting as a ubiquitous feature (e.g., Omim # 155145, median cleft of upper lip with polyps of facial skin and nasal mucosa). Therefore, this condition may represent a new variant of development of the lip and nose that does not appear to be associated with midline abnormalities or other adverse outcome. This case highlights the importance of obtaining a thorough family history, because the prognosis for the fetus changed considerably after taking into account the trait expressed by other family members. KEY WORDS: genetics; genetic counseling; prenatal; skin tags.

Needs Assessment for Genetic Information and Education Among Prenatal Providers in Virginia A. Schreiber, P. Board, J. Bodurtha, W. Hanes, J. Silberg, and L. VannerNicely Virginia Commonwealth University, Richmond, Virginia While genetic testing receives much media attention, the actual availability of genetic services may vary. Previous research has shown that many women do not comprehend the testing available to them during pregnancy. Some studies have also shown that providers in rural areas are less likely to offer the most up-to-date services. We hypothesized that rural providers are less likely than urban providers to discuss genetic services with their patients. We surveyed prenatal providers in urban and rural regions of Virginia to determine what testing they make available to their patients and whether they refer to genetics when appropriate (N = 56). We found that urban providers were more likely to refer prenatal patients for genetic counseling ( p = .057). The most common indication for referral was family history of a genetic condition, with 88% of the sample referring for this reason. We also learned that 69% of our total sample is offering cystic fibrosis carrier screening to their patients. Urban providers were significantly more likely to offer screening for cystic fibrosis ( p = .0012). Ninety-two percent of our respondents


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offer maternal serum screening and 98% discuss the benefits of folic acid with their patients. Providers in both the urban and rural regions have needs for genetic materials, and 46% feel that they are unable to keep updated on prenatal genetic technology and research. The data from this study will be included in a statewide genetic needs assessment, in addition to being used to improve genetic services in Virginia. KEY WORDS: cystic fibrosis; genetics education; needs assessment; physician training.

Unusual Fetal Chest Anomaly: Management and Genetic Counseling Case Report E. Story, A. Obringer, K. Skeweris, M. Cunningham, and D. Saller West Virginia University, Morgantown, West Virginia We report on a case of an unusual fetal chest anomaly in conjunction with other, apparently noncausal, congenital anomalies. This case explores patient management and genetic counseling consideration in the face of uncertain fetal diagnosis. Our patient, MC, was a 30-year-old, G2P1001. MC was initially referred for level II ultrasound and genetic counseling for elevated AFP by maternal serum screening. Level II ultrasound revealed multiple anomalies, most notably a right displacement of the fetal heart without signs of diaphragmatic hernia (DH) or cystic adenomatoid malformation of the lung (CCAM). Other anomalies included a single umbilical artery, right hydronephrosis, and polyhydramnios. MC was counseled according to the uncertain but potential diagnoses including DH, CCAM, or a chromosome anomaly. MC proceeded with genetic amniocentesis, which revealed a normal male karyotype. Follow-up studies included fetal echocardiogram and fetal MRI. MRI confirmed left pulmonary hypoplasia, and severe right hydronephrosis. By MRI, there was no evidence of CCAM or DH. Following a spontaneous premature labor, the male infant was delivered at 29 weeks gestation with severe respiratory distress. Within 24 hr of birth, the infant underwent a left upper lobectomy with the intent to increase aeration to the right lung by reducing the mediastinal shift of the left lung. Surgery failed to provide any relief of pulmonary distress. The infant was removed from life support at 9 days following discussion with the parents that the chest anomalies were not compatible with life and he expired shortly thereafter. Parents refused autopsy. This case is highly unusual in that the unilateral lung hypoplasia was not caused by a structural displacement of the lung, as is seen with DH and CCAM. Further, the complex set of anomalies could not be explained by an identifiable chromosome anomaly or currently recognized syndrome. This case required multiple imaging techniques to fully evaluate the extent of congenital anomalies, and for advanced preparedness for neonatal surgical management. Finally, this case serves to remind those involved in prenatal diagnosis of the many


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questions that linger regarding the etiology and prognosis of congenital malformations. KEY WORDS: prenatal diagnosis; lung hypoplasia; ultrasound; MRI; genetic counseling.

Accessibility and Uptake of Prenatal Care Services: A Survey of Deaf and Hard-of-Hearing Women S. Tobias, K. Welch, M. Clancy, and N. McIntosh Brandeis University Waltham, Massachusetts Although initial studies suggest that deaf and hard-of-hearing individuals are underserved in the health care system, none have focused specifically on experiences with prenatal care within this population. The purpose of this study was to assess whether deaf and hard-of-hearing Women are receiving appropriate prenatal care services as defined by the American College of Obstetricians and Gynecologists, to assess whether they are taking advantage of such services, and to identify potential barriers to receiving prenatal care services in this population, if any exist. An online survey consisting of 33 questions relating to demographics, hearing status, communication method, and access and attitudes toward prenatal care was posted on the Massachusetts Commission for the Deaf and hard-of-hearing website. In addition, the link to the survey was emailed to members of 5 listservs for individuals with a hearing loss, and hard copies of the survey were distributed among members of groups that serve the deaf community. Forty-eight completed surveys that met criteria for participation were used for analysis. Eighty-seven percent of the women who participated had been informed of the benefits of folic acid, and 97.6% of those participants had taken a prenatal vitamin with folic acid during pregnancy. Seventy-five percent of the women surveyed had been offered a maternal serum screen, and 70.3% underwent the screening test. Of the participants who were of advanced maternal age, 73.7% had been offered a prenatal diagnostic procedure, and 50.0% of that group chose to have the procedure. Statistical analysis of the data did not reveal significant differences in access and uptake of prenatal care services between respondents based on demographics, degree of hearing impairment, primary communication method, or affiliation with Deaf culture. However, the sample surveyed is rather homogenous, being primarily deaf, college-educated, Caucasian women over 30 years of age who communicate orally and have a selfreported high level of comfort and ease in communicating with hearing individuals. Therefore, this sample may not represent the deaf and hard-of-hearing population as a whole. Although this study suggests that the overwhelming majority of women who participated in this study are receiving appropriate prenatal care services, additional research is needed to assess the access and uptake of such


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services among a more broad and diverse sampling of the deaf and hard-of-hearing population. KEY WORDS: prenatal; deaf community.

Prenatal Genetic Screening: Knowledge and Practices Among Certified Nurse-Midwives in the State of Massachusetts E. Tworog, K. Jochmann, M. Keeling, and N. McIntosh Brandeis University, Waltham, Massachusetts Although studies have been carried out to evaluate the knowledge of and practices regarding prenatal genetic screening among certified nurse-midwives (CNMs) in the United Kingdom, limited data is available relating to this population in the United States. The purpose of this study is to assess the knowledge of and practices regarding prenatal genetic screening among CNMs in the state of Massachusetts. The 180 members of the Massachusetts chapter of the American College of Certified Nurse-Midwives’ electronic mailing list were invited to participate in a two-part online survey that was modeled after previous research in the United Kingdom. The knowledge portion of the questionnaire consisted of 19 multiple-choice questions pertaining to basic factual information. The practice portion presented a hypothetical patient scenario and asked 14 Likert-scale questions regarding some of the topics that might be discussed with a patient considering prenatal testing. Data from 35 participants was analyzed, giving a response rate of 19.4%. For the factual portion of the survey, respondents had a mean “correct” percentage score of 71.2%, with a range of 52.6–94.4%. The vast majority of participants correctly identified facts such as the ethnic groups in which certain genetic conditions are most commonly found. As seen in previous studies, however, a particular deficit was identified in knowledge pertaining to statistical probabilities. Within the patient scenario section, responses were variable. Many respondents opted to provide comments, and an informal thematic analysis of these comments identified some common themes. In particular, participants emphasized a view of genetic testing as a personal decision rather than a necessary, or automatic, component of care. They also revealed a preference towards interactive discussions that did not rely on giving specific numerical risk figures. Because the sample size was small, further study is needed to confirm these findings. However, the results of this study suggest that while overall knowledge of genetics among Massachusetts CNMs is relatively good and is in fact better than that of midwives surveyed in the Unietd Kingdom, knowledge pertaining to probabilistic concepts could be improved upon. This deficit parallels the findings of previous research conducted in the United Kingdom. In practice, participants in this study appear to strive for a nondirective approach that emphasizes the importance of personal


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decision-making in a prenatal care setting. This concept was not thoroughly explored in previous studies and offers evidence that CNMs may have a counseling philosophy that is in many ways similar to that of genetic counselors. KEY WORDS: genetic screening; knowledge; nurse midwives; prenatal diagnosis.

Rate of Prenatal and Preconceptional Cystic Fibrosis Screening by Primary Care Providers Both Before and After the 2001 ACMG/ACOG/NIH Joint Statement V. J. Weinblatt, D. Ramsey, and A. E. Donnenfeld Genzyme Genetics, Philadelphia, Pennsylvania In October 2001, the American College of Obstetrics and Gynecology, American College of Medical Genetics, and The National Institutes of Health issued a joint statement recommending that cystic fibrosis (CF) screening be offered or made available to all pregnant and preconceptional patients. To determine whether CF screening uptake changed in the wake of this statement, we compared the percentage of patients who had CF screening performed prior to their first genetic counseling appointment before the 2001 statement (prestatement group) and after the statement was released (poststatement group). Uptake of CF screening following the genetic counseling session was not analyzed in this study. CF screening history and gestational age at the time of the genetic counseling visit were collected from 10,504 primagravidas of all racial backgrounds presenting for prenatal genetic counseling between April 2001 and October 2002. Patient referral indications were varied, but all patients with a family history of CF or those with an ultrasound diagnosis of echogenic bowel were excluded from the study. The study included 2,898 prestatement patients (April–September 2001) and 7,606 poststatement patients (October 2001–October 2002). The percentage of patients having undergone CF screening prior to their first genetic counseling appointment was significantly greater after the statement was released (18.5% in October 2002) than before it was released (2.7% in April 2001), p < .0001. The mean gestational age was 20.2 and 17.9 weeks in the pre- and poststatement groups, respectively ( p < .0001). Of interest, the rate of CF screening in the poststatement group increased significantly despite the earlier gestational age of the poststatement group. The rate of patients who accepted screening from their primary care providers increased by a statistically significant margin after 140 days poststatement ( p < .001). These data reflect only the number of patients who consented to CF screening through their primary care providers, not those who were offered CF screening. The joint ACOG/ACMG/NIH screening statement has significantly impacted the rate of CF screening in prenatal patients. This may be due to the incorporation of CF screening as a routine part of prenatal care by a segment of primary care providers. Additional study of prenatal care patterns would further measure the impact of the 2001 joint CF statement. KEY WORDS: carrier screening; cystic fibrosis; genetic counseling; prenatal screening.


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The Benefits and Pitfalls of Prenatal Screening in a Twin Pregnancy A. Wray, H. Landy, and J. Meck Georgetown University Hospital, Washington, District of Columbia We report on a dizygotic twin pregnancy concordant for cystic fibrosis (CF) and discordant for Down syndrome. A Caucasian couple was referred for prenatal genetic counseling secondary to advanced maternal age in a dichorionic twin pregnancy at 13 weeks’ gestation. The patient’s other 3 pregnancies had been miscarried in the first trimester. Invasive prenatal diagnosis was declined because of the potential risk of pregnancy loss. The couple desired information in preparation for potential problems, however, and they elected nuchal translucency screening with the understanding of the decreased accuracy of blood analyte profiles in twin compared to singleton pregnancies. They also elected CF carrier screening based on the ACOG/ACMG recommendation for Caucasian couples. First trimester sonographic examination was reassuring (nuchal thickness measurements were 2.3 mm in Twin A and 2.4 mm in Twin B, corresponding to Down syndrome risks of 1/179 and 1/164, respectively). The blood profiles placed the pregnancy at a 1/1,071 risk for Down syndrome. Second trimester targeted ultrasound examination revealed an isolated echogenic bowel in Twin B. Possible etiologies included CF, aneuploidy, or possible viral infection. Additional invasive testing was not desired, even after CF results revealed that both parents carried the 1F508 mutation. Following delivery, Twin B was diagnosed with Hirschsprung disease, requiring gastrointestinal bypass and ileostomy. Karyotype was consistent with Down syndrome (47,XY,+21). CF testing demonstrated both twins to be homozygous for 1F508. This case is a reminder that genetic disorders are independent events and that 2 separate genetic conditions (e.g., CF and aneuploidy) can occur simultaneously. A thorough evaluation should be offered in the presence of abnormal ultrasound findings. Further, a possible pitfall in the nuchal translucency screening in a twin pregnancy is that a reassuring first trimester screen may discourage invasive testing and a definitive diagnosis, even with an obvious sonographic abnormality. KEY WORDS: genetic counseling; maternal serum screening; multiple pregnancy; prenatal diagnosis; ultrasound.

The Value of Genetic Pedigree Assessment in Prenatal Genetic Counseling A. Wray Georgetown University Hospital, Washington, District of Columbia The construction of a genetic family pedigree is a standard component of the prenatal genetic counseling session. Patients often will state that there is nothing of concern in their family, only to have something discovered during the pedigree intake. There are relatively few studies documenting the usefulness of the genetic pedigree in the prenatal arena. The purpose of the study is to determine the


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percentage of patients referred for routine prenatal genetic counseling (advanced maternal age or abnormal screening test result) who have a family history of a significant concern for the ongoing pregnancy. A chart review was performed in which every 10th prenatal genetic counseling chart currently filed in the 2002– 2003 filing cabinet was examined. The pedigrees were analyzed for the presence of mental retardation, learning disabilities, congenital birth defects, or a specific Mendelian disorder. These pedigrees were then analyzed to determine if the family history placed the fetus at a risk above the general population risk. Sixty-seven prenatal genetic counseling charts were examined. Seven were disqualified from the study as the couples were referred secondary to family history concerns. One additional chart was disqualified as no family history was elicited at the request of the couple. This left 59 charts for review. Thirty-five of the pedigrees were positive, some pedigrees had more than one concern. Family histories included mental retardation of unknown etiology (9), congenital heart defects (6), autism (3), cleft palate (3), X-linked colorblindness (2), unspecified muscular dystrophy (2), family history of Down syndrome (2), unspecified learning disability (2), kidney malformation (2), hemolytic anemia, metabolic disorder, multiple congenital anomalies, unilateral limb defect, cleft lip, albinism, apparent X-linked bleeding disorder, neural tube defect. Of these histories, 11 pedigrees were identified in which the fetus had a significant risk, as follows: 2 families with X-linked colorblindness; 2 families with possible X-linked mental retardation; 2 families with cleft palate in a parent; 2 families with congenital heart defects (1 in the father of the baby, the other in a sibling); a possible X-linked bleeding disorder; a family with a parent and her mother with hemolytic anemia; a family with a previous pregnancy with anencephaly. Approximately 19% of randomly selected prenatal genetic counseling patients had a family history placing their pregnancy at additional genetic risk, thus supporting the importance of taking a thorough family history. It is also important to note that approximately 42% of the positive families could be reassured that their pregnancy was not at increased risk based on their particular family history. KEY WORDS: genetic counseling; genetic screening; pedigree.

Maternal Age Effect Observed in Mothers of Children With Autistic Disorder Associated With a De Novo, Maternally Derived, Isodicentric Chromosome 15 C. Wolpert, L. Trivino, S. Donnelly, S. Ravan, R. Abramson, H. Wright, M. Cuccaro, and M. Pericak-Vance Duke University Medical Center, Durham, North Carolina In 1979 Wisniewski reported increased maternal age for the mothers of 5 probands with inverted duplication of chromosome 15. This chromosome anomaly


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is now known as isodicentric chromosome 15 (idic(15)){∗ ISCN, 1995∗ }. We hypothesized that we would observe the same effect in cases of individuals ascertained through a clinical diagnosis of autistic disorder and later identified with idic(15). Here we report the parental age findings in a cohort of families with individuals with autistic disorder (autism) and idic(15) and compare them to a larger data set of cases ascertained for an autism genetic epidemiology study. All individuals enrolled in the study were ascertained through a clinical diagnosis of autism. Qualifying individuals had their diagnosis confirmed using the Autism Diagnostic Interview—Revised (ADI-R). Seven individuals from this data set had both autism and a maternally derived, de novo, idic(15). The mean maternal age in this subset of cases is 36 years (STD = 3.33). In the remaining data set of individuals with idiopathic autism (n = 360) the mean maternal age is 30 years (SD = 5.28). This difference in maternal age between the 2 groups is significantly different ( p = .0008). The mean paternal age in the idic(15) cohort is 37 years (SD = 3.92). In the remaining data set (N = 350) the mean paternal age is 32 years (SD = 5.75). This difference in paternal age between the 2 groups is significantly different ( p = 0.0347). These data both support Wisniewski’s findings of a parental age effect and extend the finding to include children with both autism and isodicentric chromosome 15. KEY WORDS: autism; chromosome abnormalities; advanced maternal age; paternal age.

IX. PROFESSIONAL ISSUES Communicating Numerical Risk Information in Genetic Counseling N. A. Bianco Arcadia University, Glenside, Pennsylvania Risk communication is a large component of genetic counseling. A growing body of research on communicating medical risk suggests that patients have difficulty understanding concepts of numerical risk, such as probabilities and percentages. Research also suggests that presenting risk information in more than one frame may enhance the counselee’s ability to process the information, compare risks, and make decisions. On the basis of this suggestion, a study packet was developed to explore the usefulness of providing participants with risk information in both numerical and visual formats, and completed by a convenience sample of 101 participants. Two research questions were addressed in the investigation. First, does the presentation of risk information in multiple numeric frames facilitate a participant’s comprehension of risk? To address the first experimental question, a repeated measures design was used. Each participants received information on 3 different genetic counseling scenarios (advanced maternal age and amniocentesis, spina bifida and folic acid supplementation, and ethnicity-based carrier risks


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for cystic fibrosis). The numerical risk information included within each scenario was presented in 1 of 3 different frames (percentages, proportions, or a combination of both). Participants were asked a series of objective follow-up questions to determine their comprehension of the risk information provided. The results suggest that participant comprehension of risk is not significantly affected by the format of the numerical risk information ( p = .558). The second research question asked whether the presentation of a visual aid, aimed at increasing participant understanding of small probabilities, reduced a participant’s concern about risk? The visual aid used in the investigation was adopted from Woloshin and Schwartz (1999), and adapted to communicate the procedure-related risk of miscarriage associated with amniocentesis. The results suggest that participants receiving the visual aid were significantly less concerned about the procedure-related risks than those participants not receiving the visual aid ( p = .019). Whether a reduction in participants concern regarding the risks of amniocentesis would translate into an increase in the uptake of prenatal diagnostic testing remains an interesting question for clinical investigation. The implications of the results for the practice of genetic counseling are discussed. KEY WORDS: amniocentesis; genetic counseling; decision making; risk communication.

Research Values and Practices of Genetic Counselors H. Clark, J. Gamm, C. Huether, R. Blough-Pfau, C. Buncher, and N. Warren University of Cincinnati, Cincinnati, Ohio Genetic counselors have been debating the need for advanced graduate education within the profession for many years. However, genetic counselors’ interest in conducting independent research and their attitudes toward obtaining a potential doctoral degree in genetic counseling has not been assessed in more than a decade. As part of a comprehensive survey intended to describe the research values and practices of genetic counselors, we assessed genetic counselors’ opinions regarding research and their interest in obtaining advanced degrees, including a hypothetical PhD in Genetic Counseling. After a review of the literature, we designed a web-based survey tool composed of closed-ended and Likert-scale questions. Respondents were asked to self-report their current research involvement, their specific roles, and their interest in performing research in the future. Participants were chosen by consecutive sampling, and the survey was sent to 1,200 full members of the NSGC through e-mail. We received 341 responses, achieving a 28.4% response rate. When asked about their commitment to research, 107 respondents (31.4%) indicated that they commit at least 25% of their work time. However, when asked to consider their ideal genetic counseling position, 180 respondents (52.8%) indicated that they would like to commit at least 25% of their work time to research. “Lack of time” was identified as the most significant barrier to performing research,


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and was cited by 214 respondents (62.8%). Two thirds of genetic counselors plan to perform research at some point in the future, with 233 respondents (68.3%) indicating that they do plan to perform research, whereas 96 respondents (28.2%) do not. In addition, 119 respondents (34.9%) indicated that they would pursue a PhD in Genetic Counseling if it was available. The results of this study demonstrate that a significant number of genetic counselors are currently conducting research, and that many more plan to perform research in the future. These results reflect the maturation of our field, in that a large sector of NSGC members consider active involvement in research to be a core genetic counseling role. Fostering genetic counselors’ desire to generate research will facilitate our understanding of genetic counseling professional practices. The study also demonstrates that a significant number of genetic counselors have high interest in a hypothetical doctoral-degree in genetic counseling, suggesting that our profession is primed for the development of doctoral degree training programs. Further efforts are needed to provide research training support for genetic counselors, including preservice, continuing education, and advanced graduate education. KEY WORDS: research; genetic counseling.

Burnout in Genetic Counselors N. Dexter, K. Mahoney Shannon, K. Schrag Wangh, and D. Rintell Brandeis University, Waltlham, Massachusetts Burnout is described as a syndrome of diminished personal accomplishment, empathy and caring toward others, and emotional exhaustion that results from the chronic strain of dealing extensively with other people and, moreover, with their problems and crises (Maslach, 1982). Those in the helping professions, including genetic counselors, are particularly susceptible to burnout due to the nature of their work. However, the experience of burnout among genetic counselors has not been formally assessed nor documented beyond anecdotal writings. The purpose of this study is to measure the levels of burnout experienced by genetic counselors working in a clinical setting and to identify contributing factors to burnout. A random sample of 500 genetic counselors whose names and addresses were obtained from the National Society of Genetic Counselors was mailed a survey consisting of 3 parts: (1) demographics and employment characteristics, (2) contributing factor assessment, and (3) the Maslach Burnout Inventory (MBI). The MBI is a standardized, validated tool first developed in 1986 to measure burnout in human services workers and consists of 3 subscales: Emotional Exhaustion (EE), Depersonalization (DP), and Personal Accomplishment (PA). Of the 500 surveys mailed, 190 were returned and analyzable for a response rate of 38%. The mean PA and EE subscale scores for the cohort were in the moderate burnout range (PA: M = 38.37, SD = 5.63; EE: M = 23.08, SD = 9.62). The mean DP score was


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5.07 (SD = 4.56), which is in the low burnout range. Bivariate analysis identified factors contributing to increased burnout scores for all 3 subscales: self-report of low social support, absent or inadequate work environment factors (such as support staff and level of autonomy), and lower effectiveness of coping methods. Variables that contributed to burnout in only 1 or 2 subscales included age, clinical setting, and workload. Burnout scores of the genetic counselors in this study were compared to those of social services and mental health workers from previous studies. Genetic counselors had higher PA and lower DP scores, indicating lower burnout in these areas, but also had higher EE scores compared to the other 2 professions. These results suggest that the nature of the profession makes clinical genetic counselors more susceptible to emotional exhaustion, but that genetic counselors may be successfully using coping mechanisms to combat the other effects of burnout. A further larger study is needed to determine if these results reflect the genetic counseling profession as a whole, or if the data is representative of only a subset of genetic counselors that chose to participate in this study. KEY WORDS: burnout; coping; genetic counselors; social support.

Observations of Prenatal Genetic Counseling in Australia and the United States K. Frazer, J. Edwards, M. Sahhar, and R. Ferrante University of South Carolina, Columbia, South Carolina Observations from 10 advanced maternal age, prenatal genetic counseling sessions provided by the Genetic Health Services Victoria in Melbourne, Australia, were compared to observations of 10 advanced maternal age, prenatal genetic counseling sessions at the University of South Carolina, Department of Obstetrics and Gynecology, in Columbia, SC. Observations were recorded on field note sheets and analyzed for themes to identify similarities and differences in the practice of prenatal genetic counseling offered in these 2 settings. Some differences observed during this study included the presentation style of risk, issues that arose in evaluating family history, how psychosocial issues are addressed, and how the health care system played a role in the session. The similarities in the practice of prenatal genetic counseling were compelling. Some of the similarities in practice were the likenesses in nonverbal behavior, the presentation of information to patients, working with patients from many different cultural backgrounds, the decision-making process, and the follow-up discussed with patients. This study also included a comparison of the history of genetic counseling as a profession and a comparison of the training and certification of genetic counselors in Australia and the United States. Although the training and certification processes are different between the 2 countries, the aim of the training programs appears to be the same; to prepare students to provide genetic counseling services to all


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patients, by helping each student achieve knowledge in medical genetics and skills in counseling. The comparison between international settings creates an opportunity for a better understanding of how different health care systems and cultural differences influence the genetic counseling process. This study encourages international awareness of genetic counseling, and should serve as an impetus for more research on the international practice of genetic counseling. KEY WORDS: Australia; genetic counseling; prenatal.

Proposal for the Development of an Educational Curriculum for Genetic Counseling Student Supervisors M. Harlan, S. Eubanks, N. Callanan, and L. D. Borders University of North Carolina at Greensboro, Greensboro, North Carolina Clinical supervision of genetic counseling students is essential for advancing the professional development of students and ensuring quality client services. Research has investigated student and supervisor experiences of live supervision. However, no training for clinical supervisors of genetic counseling students exists. The objective of this study was to create a grant proposal for the development of standard competencies and a training curriculum for clinical supervision. To assess the training needs of clinical supervisors on a variety of skills, a questionnaire was administered to a group of supervisors in 1 southeastern program (n = 15). In addition, all directors and assistant directors of genetic counseling programs in the United States and Canada were invited to complete a questionnaire assessing their perceived need for guidelines and training in supervision (n = 15). The research approach outlined in this proposal involves identifying and adopting training elements from existing clinical supervision programs in other health professions. The feasibility of utilizing other programs as models of supervisor training was explored by contacting representatives from clinical counseling, nursing, physical therapy, social work, and speech pathology at local universities (n = 9). Informal telephone interviews were conducted to determine the methods of training in place for students and clinical supervisors in these fields. Lastly, a thorough literature review on clinical supervision including supervision training in other health professions was performed. The results of this study suggest that an overwhelming majority of both practicing clinical supervisors and program directors surveyed feel that a training curriculum is necessary. Moreover, many program directors indicated willingness to serve on a project advisory board and test the curriculum at their genetic counseling program (67 and 100% respectively). Literature on clinical supervision in both genetic counseling and clinical counseling has supported the need for consistency among supervisors and recognized the importance of supervision. Furthermore, from the health profession contacts, it is clear that there is a wealth of information about existing training programs and standards for


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clinical supervision in other fields. In summary, the results from this study have (1) confirmed both supervisors and genetic counseling program directors agree that training in supervision skills is crucial to the preparation and practice of genetic counseling students, (2) shown that the development of clinical competencies has been a successful first step in creating an educational curriculum in other health professions, (3) proven that various models of supervision training can be studied to develop an educational curriculum for student supervisors in genetic counseling. KEY WORDS: curriculum; education; genetic counselors; supervision.

An Assessment of Genetic Counselors’ Attitudes Toward Disability J. Jonas, A. Asch, N. McIntosh, and L. Susswein Harvard Vanguard Medical Associates, Boston, Massachusetts Studies have shown that information about medical conditions given by (nongenetic counselor) health care professionals to their patients can be influenced by the professionals’ attitudes toward disability suggesting that the medical professional’s attitudes towards disability may influence the management of a patient’s care or decisions a patient may make regarding his/her care. Given that genetic counselors may be the primary source of medical information for patients making decisions (including preconception and prenatal decisions) about their care, their attitudes towards disability may be particularly influential in their patient populations. To assess the perceptions and attitudes of genetic counselors towards disability (and compare it to other health care professionals), a survey was devised. The survey consisted of demographic questions, the Modified Issues in Disability Scale (MIDS), a validated set of questions that assess an individual’s attitude towards individuals with disability, and items designed to assess how concerning various aspects of impairment are. An invitation to participate in the study was circulated to genetic counselors on the NSGC listserv and to students enrolled in ABGC accredited genetic counseling programs. Two hundred and thirty-three individuals completed the survey. Statistical analysis of the data was performed using SPSS software. The mean score on the MIDS was 253.59 points out of a possible 343 points (a lower score is reflective of a more negative attitude towards people with disabilities) and comparable to the scores of other health professionals, with the exception of nurses, who scored significantly higher ( p < .05). Genetic counselors were “most concerned” by impairments that affect cognition and those that cause a likelihood of death before the age of 17 years, and “least concerned” by impairments that manifest after the age of 50 years and those that affect hearing. Respondents who stated that they had more contact with people with disabilities outside of their work setting, had a disability themselves, were nonstudents, were older, and were parents, were less concerned by many aspects of impairment compared to respondents who had less contact with people with disabilities, did not


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identify themselves as having a disability, were students, and/or were younger. The most important finding of the study is that the more contact a respondent had in a “noncaregiving” role with people with disabilities, the less negative are their attitudes towards people with disabilities (as reflected by MIDS scores), and the less concerned they are by different aspects of impairment. Results suggest that to improve genetic counselor’s attitudes towards disability, more exposure to individuals with disability in nonmedical settings is needed. KEY WORDS: attitudes; disability; genetic counselors.

Development and Implementation of a Genetic Counselor Supervision Policy as Part of a Comprehensive Quality Assurance Program H. Kershberg, J. Oliver, E. Blaise, A. Cronister, K. Fordham, N. Nakata, J. Sawyer, E. Schlenker, V. Weinblatt, and D. Cutillo Genzyme Genetics, Orange, California To promote the provision of consistent, quality care to patients across a national network of 72 genetic counselors, Genzyme Genetics clinical services implemented a genetic counseling (GC) supervision policy as part of our quality assurance program. Under this policy, each genetic counselor is assigned a supervision level based on the following criteria: ABGC certification status, years of prenatal genetic counseling experience, years with Genzyme Genetics, and regular assessment of competency by the GC manager. In addition, the policy outlines the requirements for chart review by a GC manager and/or clinical geneticist, including review of the GC report to the referring physician. Chart review is based upon Genzyme Genetics’ clinical practice guidelines and policies. A clinical geneticist reviews each GC report and chart prior to closure of the case. A Chart Review Checklist was developed to standardize review of the GC report. The checklist documents review of the following items: patient demographics and referral indication; ethnicity-related issues; genetic risk assessment; testing and procedure options; and the appropriateness of the genetic counseling summary (which incorporates standard fragments). Using the checklist, the manager and/or clinical geneticist determines if each item is complete or incomplete. The latter category requires correction by the genetic counselor and re-review of the case. As delineated in the policy, the manager meets periodically with each counselor to discuss the results of the chart review checklists. Documentation of the chart review is used to determine when the counselor advances to the next supervision level and incorporated into the counselor’s annual performance evaluation. From April 2002 through January 2003, 31,589 prenatal charts were reviewed. The number of incomplete items by counselor and category (demographics, ethnicity, risk assessment, and testing and procedure options) was collected. Trends were tracked to establish the learning curve of new employees, to identify counselors who need additional


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training, and to determine the areas of focus for education and training programs. The chart review process has proven a particularly effective tool for training new employees. This aspect of our ongoing quality assurance program promotes two main objectives: (1) to ensure that reports mailed to physicians are complete and accurate, resulting in better patient care, and (2) to provide detailed feedback to counselors to support them in their professional development. KEY WORDS: supervision; quality assurance; professional development.

A Decade Has Gone By but Has the Consumer’s Awareness, Knowledge, and Opinions About Genetics Changed? D. Lochner Doyle, R. Peters, and A. Gibson Washington State Department of Health, Genetic Services Section, Kent, Washington In 1993, the Genetics Services Section, Washington State Department of Health, conducted a study aimed to (1) estimate the use of genetic health care services in Washington; (2) determine public awareness and opinions regarding the Human Genome Project; and (3) determine the public’s awareness of, and attitude toward, population genetic screening both in general terms and at specific times during the life cycle. This study was repeated this year to determine what changes have occurred over the past decade. Random digit dialing was used to contact 508 Washington residents statewide. Demographic data collected suggest the only significant difference between respondents in 1993 vs. 2003 is that 46% of current respondents have children in the household compared with 75% of respondents 10 years ago. Otherwise, the majority of respondents in both circumstances reside in an urban county, are female, have some college education, and are over 35 years of age. The most significant change was that in 1993, only 6% of respondents were aware of the Human Genome Project (HGP). This year, 41% indicated they were aware of the HGP. Even after being read a definition of the HGP by the interviewer, only 36% of the respondents had heard of HGP in 1993 compared to 62% in 2003. However, this figure may be overstated since respondents’ explanations of the HGP were frequently inaccurate. There were no other significant differences between the 1993 baseline data and the current data. Use of services, which included newborn screening, prenatal diagnosis, and/or pediatric or adult genetic evaluation, ranged from 11% for newborn screening, 7% for evaluation of genetic diseases in adults, 7% for prenatal diagnosis to 5% for genetic counseling. The most common reasons for not using medical genetic services included that the services were not needed (87%) or they did not know services were available (11%). Population based genetic screening continues to be a little known or not well-recognized genetic health care service. Over three fourths of respondents (77%) had heard “relatively little” or “not at all” of population-based genetic screening. Around 75% of respondents


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strongly favored or somewhat favored population-based genetic screening. Favorability of % population-based genetic screening ranged from 80% for screening children to 66% for screening fetuses. The information obtained from this study will be used by the Genetic Services Section staff to perform further long-range planning, and develop educational programs and health policy. KEY WORDS: genetic services; consumer awareness; human genome project; public policy.

Characterization of the Practice of Genetic Counselors With Doctoral Degrees C. L. Strange, N. S. Warren, C. A. Huether, J. A. Johnson, L. Kretschmer, and R. Blough-Pfau University of Cincinnati, Cincinnati, Ohio Since its beginnings in 1969, graduate training in genetic counseling has led toward the achievement of a master’s degree. As the field expands, similar to other new and growing health care professions, the role for a doctoral degree in genetic counseling has been discussed more and more frequently. At the present time, the prevailing option for genetic counselors interested in education beyond the terminal master’s degree is to obtain a doctoral degree in another field. To date, there has been no study characterizing the practice of professionals in genetic counseling who have doctoral degrees in other fields. Genetic counselors who have such degrees can provide insight into the relationship of an advanced degree to the career of a genetic counselor. The goal of this qualitative research study is to characterize the practice of full and emeritus members of the NSGC who hold doctoral degrees (N = 63) and identify what they believe are the advantages and disadvantages of a doctoral degree. Qualitative data was collected through telephone interviews conducted by CLS using a script of open- and close-ended questions. The questions addressed professional activities, perceptions of practice compared to masterstrained counselors, perceived advantages and disadvantages of having a doctoral degree, and attitudes toward the development of a doctoral degree in genetic counseling. Professional activities described by the respondents include research, teaching, administrative activities, and clinical work. Genetic counselors with doctoral degrees perceived that they have less patient contact, increased research and teaching opportunities, and greater administrative responsibilities compared to genetic counselors with the master’s degree only. Advantages of a doctoral degree identified by respondents include skills gained, increased opportunities, improvement in status, and greater autonomy. Disadvantages of a doctoral degree identified by respondents include extra time commitment and decreased patient contact. Both positive and negative attitudes toward the development of a doctoral degree were expressed. The preliminary results of this study suggest that NSGC members who have doctoral degrees fill a wide range of roles and generally believe that their


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practice is different than those of genetic counselors with master’s degrees only. These results also suggest that an in-depth review of the potential benefits and drawbacks need to be considered as we more seriously consider the development of advanced graduate training in genetic counseling. KEY WORDS: doctorate, genetic counselors, qualitative.

Am I a Nurse or a Genetic Counselor? Reflections of Nurses Providing Genetic Services S. Kieffer, J. Bottorff, M. McCullum, L. Balneaves, M. Esplen, and J. Carroll School of Nursing, UBC, Vancouver, British Columbia While there were a few U.S.-trained genetic counselors working within Canada during the late 1970s and early 1980s, the pioneers in the provision of genetic services were for the most part nurses. Over the past 30 years nurses have continued to develop roles within multidisciplinary teams providing genetic services in Canada. However, in the context of genetic services little formal exploration of nursing roles, responsibilities, and education needs has been conducted. The primary aim of this project was to describe the roles of nurses whose clinical practice involves the provision of genetic services for adult onset hereditary disorders (AOHD) in Canada. The study involved 3 interrelated research activities: (1) a comprehensive synthesis of literature in nursing and genetics, (2) telephone interviews with nurses providing genetic services for AOHD, and (3) an expert panel to review study findings and develop recommendations. Nurses were recruited by advertising in provincial nursing newsletters, journals, and websites, by advertising in the newsletter and listserv of the Canadian Association of Genetic Counsellors and by sending letters of invitation to major centers providing genetic services in Canada. Participating nurses were also asked to forward invitations to colleagues. In-depth telephone interviews were conducted with 22 nurses representing a range of roles, practice settings, and geographical locations. Telephone interviews were semistructured and included broad questions to elicit descriptions of the nurse’s current role, the context in which the role has evolved, the knowledge and skills necessary to fulfill the role and opinions about the future development of genetic nursing practice and its interface with other disciplines. All interviews were tape-recorded and transcribed verbatim. Transcripts were content-analyzed using NVivo, a software program to facilitate qualitative analysis. Through the development and refinement of a coding framework, 5 key themes were identified: role ambiguity, role definition, barriers and facilitators to roles, and educational needs. Overlapping roles in the provision of genetic services and the variety of titles under which they practiced created uncertainty about their identity as nurses or genetic counselors. This presentation will describe the variety of roles that nurses performed, the challenges they faced, and their relationships with other providers


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of genetic services. Based on this research, recommendations will be made for ways that nursing roles can be differentiated from and complement the work of genetic counselors and can be enhanced and developed to meet the evolving need for health care professionals in providing genetic services. KEY WORDS: genetic counseling; genetic services; nurses.

Abstracts from the Twentieth Annual Education Conference of the National Society of Genetic Counselors (Washington, DC, November 2001).

Abstracts from the Seventeenth Annual Education Conference of the National Society of Genetic Counselors (Denver, Colorado, October 1998).

Abstracts from the Twenty-First Annual Education Conference of the National Society of Genetic Counselors (Phoenix, Arizona, November 2002).

Abstracts from the Nineteenth Annual Education Conference of the National Society of Genetic Counselors (Savannah, Georgia, November 2000).

Abstracts of papers and posters presented at the Fifteenth Annual Education Conference of the National Society of Genetic Counselors.

An Oral History of the National Society of Genetic Counselors.

Abstracts of papers presented at the Thirteenth Annual Education Conference : 25 years of genetic counseling Expanding roles, extending horizons.

Abstracts of the British Psychosocial Oncology Society, 2015 Annual Conference, 19 - 20 March 2015, England, UK.

Abstracts of the British Psychosocial Oncology Society, 2014 Annual Conference, 27 - 28 February 2014, Preston, UK.

Association for medical education in europe-annual conference 2-5 september, nijmegen, the Netherlands.

Abstracts of the Annual Conference of the Asia Pacific Stroke Organization (APSO), September 12-14, 2014, Taipei, Taiwan.

Abstracts of papers presented at the Fourteenth Annual Education Conference : Conditions that affect adults.

Abstracts from the Environmental Mutagenesis and Genomics Society, 45th Annual Meeting, September 13–17, 2014, Orlando, Florida.

Abstracts of the 37th Annual Meeting of the American Society of Primatologists, September 12-15, 2014, Decatur, GA.

The College of Podiatry Annual Conference 2014: meeting abstracts.

Abstracts of the 40th Annual Meeting of the Society for Neuropediatrics, September 17-19, 2014, Munich, Germany.

Abstracts of the 53rd Annual Meeting of the European Society for Paediatric Endocrinology (ESPE), September 18-20, 2014, Dublin, Ireland.

Abstracts of the XXXII Annual Scientific Meeting of the British Blood Transfusion Society, 24-26 September 2014, North Yorkshire, UK.

Publication rates of abstracts presented at the annual congress of the Turkish Society of Colorectal Surgery (years 2003-2011).

The college of podiatry annual conference 2013: meeting abstracts.

Communications to the sport and science conference. The Annual Conference of the British Association of Sports Sciences, Middlesex, 4-9 September 1991. Abstracts.

The Society of Uroradiology: abstracts from the 1989 meeting. Naples, Florida, September 23-24, 1989.

16th Annual Southern Hospital Medicine Conference Abstracts.

Abstracts Nederlandse Vereniging voor Thoraxchirurgie: 26 september 2003.