Journal of Genetic Counseling, VoL 5, No. 4, 1996

Abstracts of Papers and Posters Presented at the Fifteenth Annual Education Conference of the National Society of Genetic Counselors Juliann Stevens1,2

Increasing Complexity of Prenatal Referrals to a Community Hospital Genetics Program E. Amacker Carolinas Medical Center, Charlotte, North Carolina 28232 Technological advances and reforms in health care have altered management practices of primary care providers. The primary care provider is under increasing pressure to deliver high quality cost-effective care, including providing increased amounts of genetic information. As discussion continues at national levels regarding the demand for genetic counselors and the need for primary care providers to have additional training in genetics, we have noted striking changes in our referral patterns of prenatal patients over the past 10 years. While referrals for MSAFP/triple screen have remained fairly constant with small yearly fluctuations, referrals for "routine" AMA have decreased. Over the past 2 years, referrals for other, more complex indications have increased dramatically, including: family history of genetic disease or mental retardation, teratogen exposure, and ultrasound anomalies. Another indicator of increased case complexity has been the escalating number of patient samples sent to reference laboratories for biochemical or DNA testing. We hypothesize that the primary care providers in our community are currently receiving more training in genetics. Therefore, they are recognizing situations in prenatal histories that they do not feel comfortable handling alone, and this has resulted in increased complex referrals to our prenatal genetics service. This has had implications for our staffing of genetic counselors, requiring us to reduce the number of 1Division of Genetics, Children's Hospital of Buffalo, Buffalo, New York. aCorrespondence should be directed to Juliann Stevens, Division of Genetics, Department of Pediatrics, Children's Hospital of Buffalo, 936 Delaware Avenue, Buffalo, New York. 181 1059-7700/96/1200-0181509.50/I © 1996 National Society of Genetic Counselors, Inc.



patients/year/genetic counselor because of the increased time required per patient. Historically, our center has seen approximately 900-1100 patients/year/prenatal genetic counselor. Over the past 2 years, 600-700 patients/year/prenatal genetic counselor has been a more reasonable workload for our community hospital prenatal genetics service.

Development of a Curriculum to Educate Adolescents About the Benefits of Folic Acid Supplementation and Other Health Practices Which Can Aid in the Prevention of Birth Defects E. Allen, R. Best, and K. Brooks

University of South Carolina, Columbia, South Carolina 29203 It is estimated that 2-5% of all babies are born with some type of birth defect. These abnormalities can be due to genetic factors, multifactorial causation, or teratogenic exposure; however, there are certain health practices which can help to prevent some types of congenital anomalies. Periconceptional folic acid supplementation (beginning at least 1 month prior to conception and continuing through the early months of pregnancy) has been shown to be effective in reducing the occurrence and recurrence of neural tube defects (NTDs). Avoidance of teratogens, such as alcohol, drugs, radiation, and maternal infection, can prevent birth defects associated with exposure to such agents. Since many of these preventive measures must be initiated before conception or very early during pregnancy in order to be most beneficial, education and counseling need to be provided preconceptionally. Due to the fact that many pregnancies are unplanned, it is important that all women of reproductive age be made aware of these practices so that they can change their health habits before becoming pregnant. Mass education can be applied early during the reproductive years through incorporation into public school education programs. The purpose of this study was to develop a birth defect prevention curriculum which could be used to educate junior high and high school students, and to determine the educational efficacy of the curriculum in different classroom settings and grade levels. The curriculum was written after a review of the literature, and the following topics were included: NTDs and the benefits of fotic acid supplementation, effects of alcohol, smoking, recreational drugs, and some prescription drugs on the fetus, teratogenic effects of radiation and byperthermia, paternal factors, maternal health, nutrition, and infection, and genetic awareness. Overhead projection were created which contained major points about each topic and depictions of specific types of birth defects. The curriculum was taught to a total of 230 students in the Columbia, South Carolina area. The students ranged in grade level from seventh to eleventh grade and represented two different schools which were in separate school districts. The curriculum was presented to the ninth through eleventh grade students in a parenthood education course and to the seventh and eighth graders in a human growth and development section of a science course. Before the presentation, the students were given a pretest to assess their knowledge about the topics being presented, and were given an identical posttest after the



presentation. The test was divided into two main sections: NTDs and their prevention and the effects of teratogens and other harmful substances. The pretest and posttest scores in each section were compared using repeated measures analysis of variance. The students displayed a 44% increase in total test score, on average. The students knew much less about NTDs before the presentation and showed significantly more learning (p = 0.001) in that section than the teratogen section. Females scored significantly higher (p = 0.0008) on the overall test than males. There was not a significant difference in the scores among the different grade levels or between the schools. This study demonstrates that significant learning can occur when these topics are presented to adolescents in the classroom. Further research is needed to determine the retention of this information and whether the gain in knowledge leads to a change in health behaviors.

Attitudes Regarding Genetic Issues of the Pakistani Population in Brooklyn: A Survey of Our Patients s. Barrett, D. Rosa, M. Needle, J. Iqbal, and G. Kupchik Maimonides Medical Center, State University of New York, Brooklyn, New York Maimonides Medical Center is located in an area of extreme racial and ethnocultural diversity, as reflected in our pediatric genetics referrals. Of the 20% of our patients who are immigrants from Asian subcontinent countries, over 90% are from Pakistan. A majority of these individuals are from impoverished areas, and have little formal education. Consanguinity is common. The overwhelming majority of these individuals practice a conservative form of Islam. With regard to genetics issues, they believe the following to be forbidden by Islam: abortion, autopsy, birth control, in vitro fertilization, and prenatal diagnosis. The impact of this belief system on genetic counseling is obvious. Many of our Pakistani patients adhere to this belief" system, while some appear to make reproductive decisions independent of the cultural influences. We plan to survey our patient population through the use of a questionnaire (in English and Urdu) to learn more about the degree of variation that exists within this belief system and potentially what factors influence such decision making. We will inquire about the following: personal data, perception of risk, consanguinity, prenatal diagnosis, abortion, and autopsy. Our results will be presented, along with suggested guidelines for effective cross-cultural counseling for this understudied population.

An Assessment of Knowledge Gained by Adolescents from a Genetic Counseling Session s. Barrineau, R. Ferrante, A. Tutera, and J. Bacon University of South Carolina, Columbia, South Carolina 29203 Teenage pregnancy is a growing problem in our society and given the increasing use of prenatal screening tests, more teenagers are being referred for counseling. However, the effectiveness of genetic counseling for this population has not yet been deter-



mined. The purpose of this study was to determine if teenagers learn about genetic disease and genetic testing from a genetic counseling session as well as their opinions regarding pregnancy, genetic disease, and genetic testing. Pre-and post-counseling written questionnaires were given to all pregnant teenagers scheduled for appointments at the University of South Carolina Department of Obstetrics and Gynecology between December 1995 and February 1996. Fifteen teenagers, aged 14-19 (average age 17.7 years), and 11 controls, ages 30-34 (average age, 32.0 years) participated in this study. Patients were referred for genetic counseling due to abnormal serum screening results or significant family history. Due to the small sample size, we could not perform statistical analysis. However, using percentages, the results suggest that teens generally knew less information before the counseling session than adults, and that both teens and adults gained knowledge from the genetic counseling session. The gains in knowledge made by adolescents were apparent, especially in learning where chromosomes "come from" (0.0% correct pre-counseling, 80.0% correct post-counseling) and the nondirective stance of the genetic counselor (26.7% correct pre-counseling, 70.0% correct post-counseling). Adolescents had a decrease in their understanding of the possible risk from an ultrasound procedure (93.3% correct pre-counseling, 80.0% correct post-counseling). Adults also made gains in knowledge, with the exception of understanding the principles of autosomal recessive/multifactorial inheritance (100.0% correct pre-counseling, 72.7% correct post-counseling). Aside from comparing the change in knowledge from pre- to post-counseling, other comparisons of adolescent and adult genetic counseling patients were made. For example, adolescents were not as "happy" about the pregnancy, were more apt to raise their baby with the help of their parents, and had less worries about genetic disease/birth defects than the adult patients. The differences to these questions suggests that pregnant adolescents may have a "culture" of their own. This study suggests that adolescents do gain knowledge of genetics and genetic testing from genetic counseling session. Although they started with less knowledge, following counseling their ability to answer questions about genetics was similar to that of the adult patients. However, since this dataset was small, we cannot determine statistically the degree of knowledge gained. Nor do we know if the information gained led to informed decision making regarding testing options. The next appropriate measure would be able to continue this study over a long period of time with more adolescent patients to determine how much knowledge adolescents gain from a genetic counseling session and how this knowledge is used for decision making.

De Novo Derivative Chromosome 8, Partially Trisomic for 8p and 8q, Presents a Unique Phenotype J. Bartelt, J. E. Wiley, and O. J. Hood East Carolina University School of Medicine, Greenville, North Carolina 27858 Trisomy 8p and trisomy 8q have been described in the literature with clinical phenotypes of dysmorphic features and varied congenital anomalies. We report a male fetus initially identified through amniocentesis performed for advanced maternal age who presents with a de novo derivative chromosome 8:46, XY, der(8)inv



dup(8) (p23.3 p21.1)t(8;8)(p21.1;q21.1). This derivative chromosome was composed of a virtually complete copy of chromosome 8 attached to an inverted portion of 8p which was attached to 8q from band q21.1 to the terminus. The fetus was trisomic for the short arm from the arm terminus to p21.1 and trisomic for the long arm from its terminus to q21.1. There are no reports of a similar derivative chromosome 8 in the literature. This derivative is believed to be de novo in the fetus as blood chromosome analysis of the parents revealed structurally normal chromosomes. It is interesting to note that the mother demonstrated a low-level sex chromosome mosaicism, (8%). On autopsy, the fetus had features similar to that of the trisomy 8p phenotype: prominent forehead, low set malformed ears, short palpebral fissures, flexion contracture of the humerus, ventricular septal defect, single umbilical artery, everted lower lip, and agenesis of the corpus cailosum. Features similar to the trisomy 8q phenotype included micrognathia, hypertelorism, abnormal ears, and VSD. The fetus also presented with additional features not found in trisomy 8p or trisomy 8q: flattened nasal bridge, hydrocephalus, omphalocele, and arhinencephaly. Hydrocephalus has been reported in one case of mosaic trisomy 8. This case presents a phenotype similar to trisomy 8p and 8q, with additional anomalies suggestive of a distinct clinical presentation of this derivation.

Bias Affecting Integration of Information in Genetic Counseling M. Bell, R. Palmour, and S. Farrell Genetics, Department of Laboratory Medicine, The Credit Valley Hospital, Mississauga, Ontario LSM 2N1, Canada Bias in a patient's understanding can influence the way they interpret and make use of information delivered in genetic counseling. One form of bias is described by a mechanism known as cognitive dissonance. Cognitive dissonance theory maintains that, in situations where newly obtained information is incongruent with previously held active cognitions or beliefs, the conflicting or new information in invalidated. A person integrates new information into their personal framework of knowledge. If prior assumptions are incorrect, this can create a biased viewpoint. Informed consent is a basic tenet of genetic counseling. Cognitive dissonance can affect a person's ability to validate new information from genetic counseling. A research project was designed to look at the amount of information about genetics integrated by participants. A group of final year nursing students (n = 33) were exposed to genetic information. Final year nursing students are expected to have completed courses in biology including a genetics components. They also have studied common genetic conditions such as cystic fibrosis and Duchenne muscular dystrophy. This group could be considered representative of the well-educated segment of the population. The protocol involved a multimedia lecture to deliver information about genetics and genetic counseling. Self-administered questionnaires were used to measure baseline knowledge and comprehension of the new information. Questions were divided into five areas for analysis. Both quantitative and qualitative responses to questions in each area were analyzed to determine the level of comprehension. The areas investigated were general knowledge of genetics, availability of genetics services, awareness of genetic dis-



orders, understanding the inheritance of genetics disorders and information about termination of pregnancy. There was a measurable increase in knowledge in the three areas about which the participants could be expected to have little or no prior information following the lecture. These were related to genetic disorders and available services. The level of information following the lecture remained the same in the area of general genetics knowledge which is often discussed in the mass media and course curriculum. It declined in the area relating to termination of pregnancy, an area of social controversy about which participants could be expected to have knowledge and opinion. Cognitive dissonance could explain these findings. The results of this study demonstrate that access to information does not imply comprehension. While the participants did learn and comprehend some of the new information, the learning was not consistent among the students and could have been biased by prior knowledge and assumption. This study emphasizes the continuing need to ascertain what information users and providers of health care presently possess in order to maximize the level of comprehension a person maintains when they complete genetic counseling. We must recognize the barriers to understanding and integrating new knowledge if we hope to overcome them.

Peer Support Group for Termination of Pregnancy M. Bell, S. Connacher, J. Demoe, and S. Farrell Genetics, Department of Laboratory Medicine, The Credit Valley Hospital, Mississauga, Ontario L5M 2N1, Canada The decision to end a pregnancy is regarded as one of the most difficult decisions for anyone to make. When an fetal anomaly is identified, couples are offered the options of continuing or terminating a pregnancy. The impact of this choice is far reaching and influences almost every aspect of a woman's life and a couples' relationship. Many people seem to find that the support and friendship of family, friends, and health care professionals is enough to help them resume normal activities. However, others have more difficulty regaining a sense of balance in their lives. A support group can play a helpful role in assisting a person to normalize their life following a pregnancy termination. We discuss our experience at The Credit Valley Hospital with a peer support group. This group is for women and couples who have been counseled in Genetics and terminated a pregnancy following detection of a fetal anomaly. The need for a peer support group was identified by patients. They expressed a desire for contact with others who have been through a similar experience. It was initiated by a former patient who, with the assistance of a professional bereavement counselor, organized a program outline. Genetics maintains contact with the group by having a counselor in attendance at each meeting. This provides patients with accurate medical/genetics information as well as support for the facilitator. It also allows us to learn more about pregnancy termination from the patient's perspective. The support group puts an emphasis on acceptance and resolution of the guilt and grief involved in the decision to end a pregnancy for abnormalities. Its outline consists of 14 meetings for patients and their partners, held on a weekly basis. A facilitator acts as the coordinator and



group leader. Meetings are informal and include a specific topic for discussion and time to debrief about the previous week. Participants are asked to read or describe their thoughts from their journal or workbook about each week's specific topic. The final meeting often consists of a memorial service. Through involvement with the support group, additional areas for patient and staff education have been identified. Sensitivity to the process of second trimester termination has increased. As well, access to direct feedback regarding Genetics services has been gained. The quality and variety of follow-up and support services offered has been enhanced. A revision of the program is underway to reduce the number of meetings for each group because of scheduling difficulties for participants. Organization of a Canadian national newsletter is in progress for people who are geographically isolated but would like to share their experience with others. Both patients and genetics staff have benefitted from development of a peer support group. We encourage others to let us know of their experiences so we can all benefit.

T h e Effects of Temperature and T i m e on the Stability of Unconjugated Estriol (uE3) in Serum Versus Whole Blood M. N. Berry, C. Ruiz, I'. Stamper, D. Marnane, C. Johnson, K. Curtis, G. Campbell, J. Meyer, and P. S. Hart Bowman Gray School of Medicine, Wake Forest University, WinstonSalem, North Carolina 27157 Although literature reports have been published about the effects of temperature on the stability of maternal serum alpha-fetoprotein (MSAFP) and human chorionic gonadotropin (hCG), little information is available regarding the effects of temperature on the stability o f uE 3. The Bowman Gray School of Medicine (BGSM) MSAFP/hCG/uE3 screening protocol requires that blood samples be stored and sent at room temperature. Since we receive samples via first class mail, often several days to 1 1/2 weeks elapse between the time of the blood draw and the day of the assay. Any serum remaining after assay is frozen at-20°C and saved for at least I year. The purpose of our current study was to evaluate the stability of uE3 at various temperatures over time in serum vs. whole blood. The effect of temperature on 50 maternal blood samples freshly drawn and submitted for MSAFP/hCG/uE3 screening between 15.0-20.9 weeks gestation was evaluated. A total of 28 ml from each patient was collected: one 7 mi sample and seven 3 ml samples. The 7 ml sample was used for the patient's routine screening assay. From the remaining samples, serum and whole blood were stored at room temperature, 4°C and -20°C. uE3 was assayed on days 1, 5, and 14 from the aliquots maintained at room temperature and 4°C. The samples at -20°C were assayed on day 14 only. Paired t-tests revealed that there was a significant difference between the uE3 values obtained from whole blood and serum tor room temperature (p = 0.0179) and -20°C (p = 0.0001), but not for 4°C. There were also significant temperature and time effects. The mean uE 3 values on day 1 were 0.79 and 0.76 ng/ml for room temperature and 4°C, respectively. On day 5, the mean uE 3 values were 0.84 and 0.73 ng/ml for room temperature and 4°C, respectively (p = 0.0338). The results were also significant for day 14 where mean uE 3 values were 1.01, 0.73, and 0.67 ng/ml for room



temperature, 4°C and -20°C, respectively (p = 0.0001). The average mean difference between whole blood and serum on day 14 was 0.13, a highly significant finding (p = 0.0001). There was a significant interaction between time and temperature, with the values becoming more discrepant over time (p = 0.0001). In addition, 99 frozen maternal serum samples which were originally assayed between 1-2 ½ years ago were re-assayed for the level of uE 3. A paired t-test indicated that there was a significant difference (p = 0.0001) between the two values with an absolute mean difference of 0.17. Regression analysis demonstrated that there is an association between time and differences in uE 3 values such that as time increases, the difference in uE 3 values increases linearly (p = 0.0032). The percent of variance explained by this time difference is 8%. This information should be considered when retrospectively analyzing uE 3 levels from frozen samples. In terms of maternal serum screening, our results indicate that, regardless of sample type, refrigeration, prompt receipt, and assay of samples is ideal. More studies are necessary to determine whether temperature and time have a significant effect in the detection rate for Down syndrome.

Analysis of Cystic Fibrosis Carrier Screening Practices of Members of the National Society of Genetic Counselors N. M. Bodkin Brandeis University, Waltham, Massachusetts 02254 Since the identification of the CFTR gene, there has been much debate surrounding the issue of widespread pollution screening. The goal of this study was to survey" genetic counselors to determine when and how they offer cystic fibrosis screening to their patients. Questionnaires were sent to all 956 full members of NSGC with addresses in the U.S. A 33.3% response rate was obtained. Of those respondents who reported counseling at least one patient per year about their risk for cystic fibrosis (88.6%), all offer screening to patients with an affected 1° relative, 99% to those with an affected 2 ° relative, and 83.6% with and affected 3 ° relative. 90.6% offer screening when it is requested by the patient, regardless of family history'. 91.4% report offering screening when echogenic bowel is seen on ultrasound examination. Currently, 10.1% report routinely offering screening to patients with Northern European ancestry, 10.3% to those of French Canadian descent, and 29.4% to those members of the Ashkenazi Jewish population. Institution policy appears to be the most influential factor in determining when CF testing should be offered. If the detection rate was increased to 95% in Caucasians, 53.6% of respondents would support testing, 35.6% opposed, and 10.8% were undecided.

Ethical Decision Making by Genetic Counselors M. Bosek Rush University, Chicago, Illinois 60612 Rapidly increasing genetic testing abilities and genetic knowledge are creating new and more complex ethical situations for genetic counselors. In addition, genetic



counselors may not find traditional ethical decision-making resources or templates useful in resolving ethical. To date, researchers have focused on the ethical decision-making by progressional nurses or the moral reasoning abilities related to hypothetical case studies. However, little is known about the type and frequency of ethical situations experienced by genetic counselors during their clinical practice or how genetic counselors actually resolve ethical situations in the clinical setting. Therefore, the purposes of this study are to (a) identify the types of ethical situations experienced by genetic counselors, and describe and analyze the process used by genetic counselors when resolving and ethical situation. A grounded theory method was selected since the ethical decision-making process used genetic counselors is unexplored phenomenon. Twelve genetic counselors (three physicians, eight registered nurses, and one masters prepared genetic counselor) were self-selected from a population of genetic counselors employed in a midwest urban genetics department. Each subject participated in a semi-structured, audiotaped interview. Actions were taken to insure confidentiality as well as the trustworthiness of the data. The genetic counselors described experiencing a variety of ethical situations, including: testing minors, paternity questions, prenatal testing, autonomy, maintaining confidentiality, aggressiveness of treatment for neonates with genetic defects, how best to disclose individual test results when the entire family has been tested, and financial responsibility with ordering diagnostic tests. Eight genetic counselors (75%) reported making an ethical situation daily while the remaining 25% made ethical decisions at least weekly. A conceptual model was generated which describes the genetic counselors' perception of the ethical situation as well as the variables and philosophies influencing the resolution of the ethical situation. The Basic Social Structural Process describing the environment in which ethical decision making by genetic counselors occurs is patient eduction. The Basic Social Psychological Process describes the process which guides the resolution of ethical situations. During ethical decision making by genetic counselors, patient autonomy is the Basic Social Psychological Process. Recommendations for facilitating the ethical decision making abilities of genetic counselors will be discussed. This study was conducted during an ELSI Fellowship funded by the National Institute of Health.

A Statewide Genetics Education P r o g r a m - - 1 0 Years Experience B. G. Butler and K. Barlow-Stewart Genetics Education Program of N.S. W, Sydney, New South Wales, Australia The program aims to provide information about genetic disorders and available services to both individuals and professionals and to raise awareness of the contribution of genetics in family health. The strategies developed over the last 10 years to meet these aims include production and maintenance of resources for the community, schools, and health professionals. As well as responding to community demand for information, the program aims to be proactive through the initiation of seminars for doctors, nurses, and secondary science teachers and to involve itself in the development of teaching curricula for these groups. Additional strategies



include health promotion, liaison with support groups, and the development of the program as central referral base. Evaluation of the program's efficacy in achieving its aims will be discussed. These evaluations are the basis for future directions in the provision of genetic education in New South Wales.

Inclusion of a Family Life Experience in Educational Training About Down Syndrome During Genetic Counseling Clinical Rotations C. Knutson Brasington Carolinas Medical Center, Clinical Genetics, Charlotte, North Carolina Four graduate students in the Genetic Counseling training program from the University of South Carolina spent part of their clinical rotations with our pediatric genetic service between May 1995 and February 1996. During their rotations, the students were exposed to a variety of patients with various genetic diagnoses including patients with Down syndrome. The educational training about Down syndrome during these rotations included didactic lectures, optional participation in a multidisciplinary Down Syndrome Clinic, and a family life experience in which each student spent a day with a family who has a child with Down syndrome. As part of the family life experience, the student was able to observe the natural occurrences of family life with a child with special needs by visiting the family at home and seeing the child in his or her natural environment, by accompany the child to either a physical therapy or speech therapy session, and eating lunch in public at a local restaurant. During the course of the day, the student had opportunities to openly discuss with the parent the joys and frustrations of having a child with special needs and to see firsthand what a person with Down syndrome is like. Each student was asked to write a two- to three-page essay describing what they learned from this experience. Several common themes were expressed by more than one student. These including: (1) children with Down syndrome are more like other children and that Down syndrome is only a part of that individual; (2) the textbook information about Down syndrome does not fit all children with Down syndrome as each child is unique; and (3) it helped seeing the child in their natural environment and that family life was fairly normal (i.e., the child with Down syndrome and his brother acted just like any two brothers--loving, arguing, playing). Several students commented that it was helpful to observe the physical therapy and speech therapy sessions and they learned more about the goals of therapy and early intervention. In their conversations with the parent, the students became familiar with positive and negative ways of giving families unexpected news in the newborn period. Finally, two students discussed advocacy roles for genetic counselors and parents, and issues related to how society views indMduals with disabilities. Our experience suggests that incorporation of a family life experience into the educational training of graduate students in genetic counseling can be a useful and insightful addition to their clinical rotation experience.



CF Carrier Testing for Partners of Carriers: Psychological Status, Risk Perceptions, and Reproductive Plans N. Callanan, B. Cheuvront, and J. Sorenson

University of North Carolina, Chapel Hill, Chapel Hill, North Carolina 27599 As part of a N C H G R CF Pilot Project, 296 nonpregnant relatives of individuals with CF had carrier testing. Subjects were randomly assigned to two testing arrangements. The clinic screen group received traditional genetic counseling prior to testing. The home screen group received a specially designed educational brochure and a saliva sample collection kit. As previously reported, analysis of the data thus far suggests that there are few differences between subjects assigned to the clinic screen group and home screen group on psychosocial measures, anxiety, risk perception, or overall satisfaction with their testing arrangement. Of 296 relatives who were tested, 120 CF carriers were identified. Carrier testing was offered to the spouse or partner of all carriers (N = 92). All partners who accepted the offer for testing received a saliva sample collection kit. 57 partners were tested and five carriers were identified. Carrier by carrier couples received genetic counseling and were excluded from further participation in the study. Genetic counseling was offered to all carrier relatives regardless of their partner's decision to be tested. Few subjects from either the clinic or home screen group returned for genetic counseling. For subjects in the home screen group, therefore, all education and testing for both members of the couple was done without any direct contact with a genetic counselor. For subjects in the clinic screen group, the relative, but not the partner, met with a genetic counselor prior to testing. Carrier relatives and their partners were surveyed during the interval between the partner's testing and receiving the results, and 6 months later. There were no significant differences between relatives and partners on measures of positive and negative affect or anxiety, either while waiting for results or 6 months later. There were also no significant differences between members of individual couples on any of these measures. The reported anxiety for both groups was slightly higher while waiting for the partner's test results than 6 months later. Both the relatives and the partners perceived the partner's risk for being a carrier to be low, and there were no significant differences between the two groups. When asked for a numeric estimate of the partner's carrier risk, the partners tended to give a lower estimate than the relatives. At the 6-month survey, subjects were asked about their reproductive plans and their children's risks for being CF carriers, or for being clinically affected with CE Relatives and partners both estimated that their children had a high risk for being a CF carrier, but that the risk that their children would be clinically affected with CF was low. Over 80% of couples were in agreement about their reproductive plans, and almost 26% of couples indicated that they planned to have additional children. Overall, our data suggest that there is good agreement between carrier relatives and their partners on psychosocial measures, risk perception, the impact of their carrier status on their children and future reproductive plans.



An Exploration of the Views About Genetic Counseling and Prenatal Diagnosis Among a Group of Physically Disabled Individuals E. Chen, B. Fine, and J. Sehiffman

Northwestern University, Chicago, Illinois 60611 Prior studies have indicated that prenatal diagnosis has been accepted by the general population and by relatives of those with disabling conditions. Only a small number of studies exploring the attitudes of affected persons toward genetic testing have been reported. No studies have been published on the attitudes of those with acquired physical disabilities toward genetic counseling and parental diagnosis. Descriptive articles in the lay press and social science literature on this topic, written by disability rights activists and advocates, implies opposition toward prenatal diagnosis and the field of clinical genetics by the physically disabled population. According to these authors, prenatal diagnosis is eugenic, and serves as society's way to eliminate disability. Many of these authors have not had any personal experience with genetic counseling nor prenatal diagnosis and have analyzed this subject primarily from an intellectual perspective. Fifteen physically disabled adults were interviewed regarding their attitudes toward genetic counseling and prenatal diagnosis. Based on self-assessment, the disabilities ranged from mild to severe. Five had congenital or early-onset disabilities; ten had late-onset disabilities. Seven of the 15 had disabilities that posed an increased risk to offspring; eight had disabilities that were not considered genetic. Semi-structured telephone interviews incorporating open-ended questions permitted a more qualitative, narrative-based approach. Eight out of ten who had had prior genetic counseling felt that genetic counseling was moderately or very useful for themselves. All ten thought that genetic counseling was at least moderately useful for others. Three out of five who had never had genetic counseling felt that genetic counseling would be moderately or very useful for themselves and others. Eleven out of 15 expressed positive attitudes toward prenatal diagnosis. One had mixed emotions; two had negative attitudes, which were mostly due to anti-abortion views. Attitudes were not associated with the onset of the disability, the severity of the disability, the level of self-esteem, prior genetic counseling, the possibility of passing the disability to offspring, or whether they had children. In addition, each individual was also asked to comment on whether they felt that the field of genetics was eugenic. Out of 14 responses, 11 did not feel that the field of genetics was eugenic, two felt it was possible, and one felt that it was. In conclusion, genetic counseling was generally viewed favorably by this study sample. Opinions about prenatal diagnosis were largely positive. Very few perceived genetics to be eugenic. These responses are more similar to views in the general population than they are to those in the advocates' writings. Implications for genetic counseling and future research will be discussed.



Counseling Beyond the Individual: Effects of the HD Predictive Testing Process upon Family Members J. Conaghan and A. Timko Hunter Genetics, Newcastle, New South Wales, Australia Linkage and direct gene analyses for Huntington Disease (HD) initially prompted numerous pilot studies highlighting the consequences of gene identification for at-risk individuals. Counselors involved with predictive programs recognize a broader definition of who the patient/client is, beyond the individual presenting for testing, thus undertaking a deeper understanding of all significant family members who are potentially affected in some way. This presentation is to share results of a study about family members' experiences surrounding the whole process of a relative's predictive testing for HD. This process includes how they understand a relative's coming to the decision to be tested, how they experience waiting for a result, the meaning they place on the result, and how they perceive their relationships following the result disclosure. The method of face to face semi-structured interviewing allowed the generation of qualitative data. This emphasizes self-perceptions and relevances the participants make of their own particular experiences, rather than attempting to fit their experiences into a researcher's predetermined categories. Results show that significant family members are actively involved throughout the whole process of predictive testing. Some of the emerging major themes include: (1) how previous experiences shape future responses, (2) the decision-making process, (3) prior experiences, (4) reasons for having the test, (5) waiting for the result, (6) reactions to a positive test result, (7) consequences of the result on the family relationships, and (8) adjusting to a new future. The results, presented by analysis of actual interview exerts, provide implications for genetic counselors by creating an insight into the responses and processes that are activated within a family when they are informed of the existence of HI) in the family.

Providing a Resource in Genetics for Early Intervention Programs K. Culp Brandeis University, Waltham, Massachusetts 92254 Early intervention (EI) programs were established in the late 1980s to foster the early childhood development of children who are born with disabilities or who are risk to develop them. Because early intervention is based on family-centered, comprehensive care, the staff of early intervention programs come from a wide range of educational backgrounds. Thus, not all of the staff may be familiar with human genetics and the causes of various disabilities. With the number of genetic conditions and syndromes that exist, it can be difficult to maintain current up-todate information on all of them. It is important for early intervention programs to have a source of information about genetics available to them when there are questions about a child they are working with, so the staff of the EI program can better



understand and meet the needs of that child. Genetic counselors, who already have a role in educating the public about genetics, would be an excellent resource for EI programs. It was the goal of this project to provide a resource on genetics and genetic counseling for early intervention programs. One-hour workshops were conducted at early intervention programs in the Greater Boston Area. These workshops covered basic human genetics, prenatal diagnosis, and specific genetic conditions and syndromes of interest to the EI program. Fact sheets were provided on various disorders along with a resource bibliography for future reference materials. Response to this project has been positive and has lead to ideas on how to create a more permanent source of information about genetics and genetic counseling for Early Intervention Programs.

Gender Identity and Provision of Genetic Counseling: A Study of Gender as it Impacts upon Counseling Assessment R. A. Denchy and R. Zinberg The Department of Human Genetics, The Mount Sinai Medical Center, One Gustave L. Levy Place, Box 1497, New York, N Y 10029-6574 Much research, discussion, professional, and popular literature has been focused on the essentials of male/female differences. Zare et al. (1984) reported that patients seen by female health care providers were more likely to ask about their concerns and were more satisfied with the medical facts supplied than patients with male providers. Wertz (1993) found that the single most important determinant of ethical decision making was gender, with females involved in genetic counseling being more likely to remain nondirective, more responsive to autonomy, and more likely to show concern for the extended family. Yet in a related field, a survey of clinical social workers (Jayaratne and Irey, 1981) found that female workers were more likely to use positive adjectives for female clients and negative adjectives for male clients; this finding was attributed to differences in male/female patterns of self-disclosure. Researchers in the field of marital therapy (Zygmond and Denton, 1988) reported that while gender of the client did not influence judgment, that the gender of the therapist did indeed influence the client characteristics used to determine treatment prognosis. These perspectives play out in a variety of settings within the field of genetic counseling. How might gender of either the counselor or counselee influence the communication of such delicate topics as reproductive choice in the face of genetic risk? We are currently piloting a study of responses from master's level genetic counselors' perceptions and responses to a hypothetical counseling session. After review of preliminary responses, a full survey of NSGC members is planned to be distributed and evaluated. The study examines self-reported perceptions from counselors who have randomly been provided one of two versions of a couple counseling scenario, as well as a modified Bem Sex-Role Inventory (BSRI) completed by the counselor. The two scenarios differ only in the terminology used to describe the male and female clients. In Scenario A, classically "masculine" characteristics are used to describe the male, "female" to describe the female. In Scenario B, the assignment of "masculine" and "female" terms is re-



versed. The counselors then score a listing of counseling components in order of importance as they apply to that particular scenario. The scoring of the modifiedBSRI indicates the extent to which a person endorses masculine and feminine personality characteristics of self-descriptive. The BSRI score is used as a covarient to assess how gender identity of the counselors impacts upon assessment of the hypothetical counseling session. Differences in responses to both scenarios will also be reviewed and implications for practice will be discussed.

Genetic Service Provision in Primary Care Settings in South Texas M. Dinenberg, S. Kolb, M. Aguilar, C. Kaye University of Texas Health Sciences Center at San Antonio, San Antonio, Texas 78284-7809 Primary care providers are frequently among the first to see families who are seeking information regarding genetics. They also provide the majority of the medical care received by these families on an ongoing basis. Nurses and physicians must be able to understand human genetic variation, gene-environment interaction and overt disease, in order for clients to benefit from the advances in genetics which have significant implications for the promotion of health and the prevention of disease. The majority of patients in need of genetic services in Texas Public Health Region VIII are unserved. Patients cared for in Title V (MCH) primary care clinics and federally qualified health centers ~QHCs) receive no genetic services on site. Even if referred to university-based or private providers for genetic services, these patients have problems with transportation and with negotiating a complex medical care system. Primary care providers are not prepared to deliver genetic services to these patients. This project will expand the use of human genetics knowledge and improve management of genetic disorders by primary care physicians and staff via a series of training conferences and in-services with pre- and post-testing. The project will increase utilization of genetic services within Title V (MCH) clinics and FQHCs in Texas Public Health Region VIII. Goals: 91) enhance the knowledge of primary care providers regarding genetic principles and disorders, (2) develop clinic specific protocols for identification and management of genetic disorders by the primary care provider (in consultation with the geneticist when appropriate, (3) develop diagnosis specific, culturally sensitive written materials for use in the primary care setting. The results of the educational program and protocol development wilt be presented.

Benefits of Dietary Intervention in Adults with PKU: Guidelines for Establishing Treatment B. E. Dolan Redwood Coast Regional Center, 1116 Airport Blvd., Ukiah, California 95482 Phenylketonuria (classical PKU) is an AR disorder in which inheritance of a gene mutation from healthy parents results in a defect in the liver enzyme,



phenylalanine hydroxylase. Serum phenylalanine (PHE) levels increase and result (because of interruption in PHE conversion to tryosine) in mental retardation or autism before the age of 3 years. A PHE-restricted diet early in life prevents neurological decline. Historically, there has been variation of opinion about the length of time of diet treatment. Many adults since newborn screening (NBS), established in 1967-68, were on diet in early-life years only. Adults who were born prior to NBS may never have been offered treatment. Fortunately, there is greater consensus and data that lifelong diet enhances neuropsychological and behavioral performance and outcome. The purpose of this presentation is to present the complex way a PHE-restricted diet can be brought into an adult's life who is untreated. The successful application of diet into the lives of two adults previously not treated until 57 and 58 years of age resulted in the development of Guidelines for Adults with Untreated PKU. Before treatment both adults had behavioral manifestations that threatened their homelife in the community. The first adult was diagnosed in 1992 through a rural medical genetics program. Though there was a paucity of literature supporting how to introduce diet, connections were made with a PKU specialist and metabolic centers as a base to proceed. This first adult has been on diet since 1993 with continued monitoring to refine the diet and provide elemental supplementation for her needs. The second untreated adult began treatment in 1993 after successful diet intervention with the first adult, using the Guideline principles. This adult has remained successfully on diet through intermittent health problems. Parent and care providers applaud the positive behaviors results. Both individuals have shown reduction of behavioral manifestations or screaming and agitation, have discontinued psychotropics with improvement in eczema and overall health. For both adults the success was achieved with slow introduction of diet, individualizing for elemental needs and continued monitoring. Efforts by a team of family members, a nurse counselor for genetics and geneticist, a PKU specialist physician, a nutrition consultant and resident staff were and are needed to actualize this program. The Guidelines will be available for professionals who venture into a counseling situation of supporting an adult who can benefit from diet.

A Survey of the Understanding of Recent Advan~s in Genetics and Knowledge of Genetic ~ p l e s Among the Univel~ty Community S. Estabrooks

Brandeis University, Waltham, Massachusetts 02254 There is a growing consensus that the public needs to be educated about genetics so that it can address the ethical, legal, and social implications of the genetic testing emerging from the Human Genome Project (HGP). Efforts are already underway to escalate genetic education in the school system and to provide information through the media. Assessing the public's knowledge of genetics should be an ongoing process to identify the educational needs of the public and to evaluate the effectiveness efforts. The goat of this study is to begin to identify the public's knowledge of basic genetic principles and understanding of recent advances in genetics



by surveying a segment of the population, the university" community. The specific population, studied was Brandeis University faculty and students. 91 (26%) of the 348 faculty members surveyed and 127 students completed the anonymous questionnaire. The questions elicited demographic information, sources of genetic information, knowledge of genetic principles (26 questions), as well as advances in genetics (19 questions), overall, the respondents were 51% male and 49% female. 98% of the faculty who responded have an advanced degree. Of the students, 22% were freshman, 23% were sophomores, 25% were juniors, 28% were seniors, and 2% were graduate students. The entire population studied correctly answered an average of 69% of the recent advances questions, 64% of the principles of genetics questions, and 67% total. Faculty and administrative staff correctly answered 74% of the recent advances questions and 72% of the total questions, compared with 64% and 65%, respectively, of students (p < .001). No significant difference existed between these two groups with respect to answers to questions about genetic principles. Also, no significant difference existed between males and females, those who had a biology course in college and those who had not, or those who had taken a genetics class in either high school or college and those who had not. All but 8% reported having had at least one biology course in high school. A significant difference in knowledge did exist between those individuals who answered all of the amniocentesis questions correctly and those who did not. With regard to individual questions, there were areas that were not as well known including: newborn screening, the meaning of having the sex chromosomes XYY, the percent of cancers that have proven to be inherited, and how many genes and chromosomes a person has. There were also areas that appeared to be well known, including the fact that testing or prenatal testing is available for certain genetic disorders, that some genetic disorders are more prevalent in some ethnic groups than others, and that even without a family history of a genetic disorder, there is still a chance for having a child with a genetic disorder. Results from the sources of information section indicate that the media is utilized by a large percentage of individuals, but evidence exists that it is sometime misinterpreted (i.e., responses regarding treatment availability for genetic diseases). Also, information appears to have a lasting impression that may not be easily changed (i.e., XYY association with criminal behavior). It is clear that the media has significant potential to educate if used appropriately. It also appears that secondary education may play an important role in genetic education. This study is a starting point. Many more studies need to be done examining a larger segment of the population.

P r e s y m p t o m a t i c H u n t i n g t o n Disease Testing in a Genetics Clinical Outreach Program c. A. Evers University of Iowa, Iowa City, Iowa With the identification of the Huntington disease (HD) gene the testing of presymptomatie individuals has become a simpler and more appealing prospect for family members of known affected individuals. As our institution began re-



ceiving increasing numbers of requests for this testing, it became clear that we could best serve our clientele by developing and instituting a presymptomatic HD testing protocol within our own genetic services. With the rural nature of our state and the existence of an extensive outreach clinical program, it was decided to investigate the possibility of providing services to clients and their families in our field clinics as well as in our tertiary care center. Since some clients and their families may live 6 or more hours away from the tertiary care center, it was out goal to provide these individuals with and efficacious presymptomatic HD testing program that not only followed the accepted HDSA protocol recommendations, but was also timely, cost effective, in close proximity to their home and utilized local resources such as psychologists, neurologists, social workers, and clergy. A committee of genetic nurses counselors and neurologist with board certification in genetic was formed to develop our presymptomatic H D testing program. Use of our HD protocol has been in use since February 1995. This presentation will discuss the development of the protocol and the methods of providing this service to clients. Data is currently being collected, from the professionals providing this service and the clients themselves, in order to evaluate the effectiveness of the protocol and the overall program. Results available at the time of this presentation will be discussed.

Genograms: Focusing on the Family J. Farmer, M. Itzen, J. Costalas, A. Masny, and M. Daly Fox Chase Cancer Center, Philadelphia, pennsylvania As predictive genetic testing becomes more widely available our role as genetic counselors is expanding to incorporate not just the individual client, but also the family system within which the individual operates. In the Family Risk Assessment Program at Fox Chase Cancer Center, we have found that woman receiving information about their personal risk for breast cancer are often most overwhelmed by the impact this new information can have on their family relationship. To date, we as genetic counselors have not had a tool that enables us to incorporate specific family dynamic and psychosocial issues into our approach to the client. The genogram is a tool that has facilitated counseling in family therapy and family medicine for many years. Like a pedigree, the genogram plots out the family tree and relevant medical and genetic details. Additionally, the genogram graphically records information about relationships and psychosocial issues in the family. For examples, if a mother and daughter are estranged, the dotted line drawn between them makes this immediately obvious. These dynamics are especially pertinent when multiple family members enter the program or when family members are contacted for medical records and blood samples. Due to our increased awareness that receiving predictive genetic testing results impacts family dynamics and psychosoeial issues, a social worker has been regularly attending the counseling sessions. We have found that, as a team, we are more sensitive to our clients' needs and family situations. We are piloting the use of genograms, in addition to pedigrees, as an adjunct to the counselors sessions.



The genograms will aid the counseling team to focus on the family in the following ways: (1) provide a concise, easy-to-read, and informative summary of the family dynamics and individual psychosocial issues; (2) give creative insight as to the best way to contact family members for participation in research; (3) help focus on social issues important for predisclosure counseling that will prepare the individual for the disclosure of genetic testing results, and (4) provide a tool which will keep track of individual and family changes that occur after disclosure and are revealed in follow-up counseling. We will present preliminary data assessing the effectiveness of the genogram in assisting the counseling team to prepare family members for genetic testing results related to cancer predisposition.

Mass Family History Screening of Patients at a Comprehensive Cancer Center; Risk Assessment Through the Use of Scannable Forms and Computerized Algorithms H. Hampel, T. Kuhn, A. Markowitz, K. H. Lin, S. Li, K. Brown, C. Schulz, S. J. Winawer, E Taylor, P. McGuire, A. Schluger, B. Peshkin, and K. Offit Memorial Sloan-Kettering Cancer Center, New York, New York 10021 Given the importance of obtaining hereditary cancer risk information on all patients entering a comprehensive cancer center, the Clinical Genetics Service has initiated mass-screening of family histories of new patients at Memorial SloanKettering Cancer Center (MSKCC). Using the Colon Cancer Prevention Program (CCPP) as a pilot study, an optically scannable form was developed by us and printed by National Computer Systems, Inc. (NCS). This form contains epidemiotogic questions as well as family history information from first, second, and some third degree relatives. This form is called a Family History Questionnaire (FHO) and is completed by the patient at their first visit to the CCPP. The completed form is scanned by an NCS (TM) OPSCAN® 5 optical scanner and the data is transferred and then stored through the use of the clinical research database (CRDB) developed by MSKCC. By exporting data to the Cyrillic® pedigree drawing software, a family tree is generated using the data gathered from the FHQ. In addition to pedigree generation, it was desired to have standardized criteria for classification of the various cancer predisposition syndromes in order to serve as a first stage in the assessment of familial cancer risk. Based upon literature review, algorithms were developed to identify the "artifical intelligence" programs so that each FHQ could be quickly assessed for major cancer syndromes. Using information gathered by the FHQ and stored in the CRDB, families are assessed according to published epidemiologic empiric risk estimates. For example, individuals with a relative risk of >2.0 (based on family history and/or age of onset) for developing breast, ovarian, colon, prostate, thyroid, or melanoma cancers who do not meet criteria for any known hereditary cancer syndrome are identified. Additionally, a report is generated which recommends individualized screening for the cancer to which the individuals are at risk. The program gener-



ates a report for patients who meet the criteria for hereditary cancer syndromes, which have been broken into specific categories to provide a wider initial screen and recommends genetic counseling for these families. The risk assessment program can be modified as ongoing research elucidates previously described cancer syndromes and new cancer syndromes are discovered. In addition, a "research interest" category is included which allows identification of families who meet specific research criteria in which we are interested (e.g., families with male breast cancer). In a pilot study of the computer algorithms, 135 FHQs were analyzed by a genetic counselor, a research assistant and a physician who evaluated the family histories using the same criteria as the computer. They were then independently assessed by the computer and the results were compared. The computer made errors on three FHQs (2.2%), categorizing three families as Familial Adenomatous Polyposis due to an error in the programming. The group made errors on nine FHQs (6.7%). Four of the group's mistakes involved incorrect categorization of families within the Hereditary Nonpolyposis Colorectal Cancer syndrome criteria, while five were the result of missing diagnostic information that the patient had included in the epidemiology section of the FHQ. The main limitations of the computer assessment involved the design features of the FHQ. There were some cancers which were grouped together, and some cancers not included as options on the FHQ, which may complicate the classification of certain cancer syndromes (e.g., Li-Fraumeni syndrome). Modification in programming will address many of these limitations. The use of a computerized program to assist the preliminary evaluation of cancer family history data will be an important resource for both academic and managed health care environments.

Genetic Services in Queensland Annette Hattam, Pauline McGrath, and Anne Timko

Queensland Clinical Genetic Service, Brisbane, Australia In 1993, the Queensland Health Department convened a project team to develop a plan for reorganizing genetics services within the state of Queensland. The first staff commenced in January 1995. Since then the service has grown to a staff of 13. These include four full-time clinical geneticists, five full-time and part-time genetic counselors and four support staff members. These staff are responsible for providing genetic services to areas of Brisbane as well as outreach centers of Gold Coast, Bundabery, Mackay, Cairns, Townsville, Rockhamptom, Mt Isa, and Toowoomba. Our aim is to reflect upon the first year's growth of this service at both its metropolitan and outreach areas. We will retrospectively study data collected following the commencement of the first full-time clinical geneticist. The areas we will look at are staffing allocation, patient attendance at clinics and reasons and sources of referrals. We will identify areas for future development such as enhancement of services in underserved geographical areas of Queensland and the incorporation of the Community Health Accreditation and Standards Program (CHASP) into our infrastructure.



Staying Informed and Recontacting Patients About Research Advances: A Study of Patient Attitudes M. Huggins, C. Hahn, and I'. Costa

The Hospital for Sick Children, Toronto, Canada The rapid pace of genetic research poses a growing challenge for genetics professional, who must determine under what circumstances it is appropriate to recontact patients when new information becomes available. The ethical and legal consequences of evolving technologies being integrated into clinical care have not been specifically addressed. When such a case comes before the court, it will likely consider two issues: what constitutes a reasonable effort by health care providers to keep up with research and recontact their patients; and what are the expectations of patients that health care providers recontact them. The purpose of this study has been to investigate the latter issue. The study group for this pilot project consisted of patients and/or parents of patients seen by one or more of the investigators over the past 5 years in the Neurofibromatosis Clinic at the Hospital for Sick Children. 165 questionnaires were mailed to the study group. The present analysis includes completed questionnaires from 56 respondents (34%) in 38 families. Four hypothetical types of research advance were presented to subjects: advances in diagnostic testing, prenatal diagnosis, predicting progression of symptoms, and treatment. Considering each of these advances, subjects were asked the following questions: 1. Who is responsible for staying informed about future in NF research? (i.e., on a scale from 1 to 5, with 1 indicating that this responsibility resides with patients/parents, 5 indicating that the responsibility resides with health care providers, and 3 indicating a shared responsibility). Although many (28%) of the responses attributed the responsibility to health care providers alone, many (68%) of the responses indicated shared responsibility (circled 3 or 4 on the scale). This perception of shared responsibility was most striking for advances in diagnostic testing, with 78% of respondents indicating the responsibility is shared. 2. Do health care professionals have a duty to recontact patients in the event of such research advances? (on a scale of 1 to 5, with 1 indicating no duty and 5 indicating maximum duty). Respondents indicated that health care providers as a group have a strong duty to recontact them about all types of research advances (mean duty 4.20 - 4.49 for the different types of advances). 3. In the context of a multidisciplinary clinic, what are the specific duties of various members of the health care team (family doctors, clinical geneticists, genetic counselors, pediatricians, and other consultant physicians) to recontact their patients in the event of a research advance (on a scale of 1 to 5, with 1 being no duty and 5 being no duty and 5 being maximum duty)? Respondents consistently attributed the greatest duty to clinical ge-


Abstracts neticists (mean duty >4.22) and genetic counselors (mean duty >4.00), and relatively less duty to other consultant physicians (mean duty 2.88-3.19 for the different types of advances).

This preliminary study illustrates patients' perception that genetics professionals have a strong duty to reeontact them about a wide range of possible research advances. Further studies are needed to compare these expectations to the perception by genetics professionals of their own duty to recontact patients. Documentation of the expectations of both patients and genetics professionals on these issues may facilitate the development of practice guidelines, which is likely to be of particular benefit when these issues are tested in the courts.

Discordant CVS and Amniocentesis Results in a Fetus with de Novo t(3;15) and Normal Outcome G. A. Jervis, M. J. Sutcliffe, T. A. Tedesco, O. T. Mueller, D. P. Dumont, J. A. Sarri, J. Carlson, J. Angel, and B. G. Kousseff University of South Florida Regional Genetics Program, Tampa, Florida DS, G3P1011, is a 42-year-old woman who had a CVS at 11 weeks of gestation. The results were 46, XX, -15, +der (15) t (3;15) (p13; p11.2). Parental karyotypes were normal. Amniocentesis was performed at 15.2 weeks to rule out confined placenta mosaicism (CPM) and the results were 46, XX, t(3;15) (p13; p11.2). Ten percent risk of congenital anomalies with apparently balanced de novo translocation were discussed, plus possible additional risks from abnormal placental karyotype and effects of uniparental disomy (UPD). Parents decided to continue the pregnancy. Sonograms at 15 and 33 weeks of gestation and fetal echocardiagram at 22 weeks were normal. Following a spontaneous vertex delivery, a healthy female infant was born at 38 weeks with birth weight of 3170 g and length of 51 era. Cytogenetic studies of cord blood confirmed the apparently balanced translocation. Several placental regions showed the unbalanced cell line and a low level of a third cell line 45, XX, -3, -15, +tier(15) t (3:15) (p13; p11.2). Genetic evaluation at 5 1/2 months of age revealed normal developing female without dysmorphic features; Hc--42.2 cm (50%); weight--6.46 kg (40%) and height--66.5 cm (75%). Several explanations for the discrepant CVS and amniocentesis results are possible; however, all involve more than one nondisjunction or segregation error. DNA multiplex-PCR amplification and mierosatellite analysis for UPD studies are in progress to determine the parental origin of the de novo balanced translocation in the infant and the unbalanced form in placental tissue. This case illustrates that the risks associated with CPM continue to be defined and emphasizes the need for protocols to identify abnormal CVS karyotypes which would benefit from further cytogenetic evaluation (amniocentesis or PUBS). This type of information would help health care providers and parents make sense of discordant prenatal cytogenetic results and find ways to deal with as of now "unknown" risks of abnormal outcome.



A s s e s s m e n t and M a n a g e m e n t of Psychologically C h a l l e n g i n g Cases in Predisposition Testing for Cancer Susceptibility S. A. Kieffer, K. A. Schneider, A. E Patenaude, K. Emmons, D. Schrang, S. Syngal, C. Eng, and J. E. Garber Dana Farber Cancer Institute, Boston, Massachusetts Predisposition testing for cancer susceptibility provides people with extremely powerful information, which influences more than their medical care. It may affect their employability, insurability, relationships with other family members, and how they view themselves and their future. Testing for cancer susceptibility genes, such as BRAC1 is becoming more widely available. With the finding of the 185delAGBRCA1 mutation in approximately 1% of Ashkenazi Jewish individuals, some laboratories are offering testing to any interested individual of Jewish descent as a clinical service. Proponents of testing argue that interested people have a right to this information and that it is patronizing to withhold testing while research continues. While the move of genetic testing for cancer susceptibility into the clinical arena is inevitable, it is not clear what format it will take, although it will likely he less intensive than what currently exists in the research protocols. Our protocols for BRAC1 and p53 predisposition testing have included extensive in-person or telephone psychological assessment. In an effort to more closely approximate testing in clinical practice, we developed a predisposition testing protocol in which the involvement of the psychologist was reduced. The participants' psychological well being was assessed by three standardized psychological measures, the Beck Anxiety Inventory, the Center for Epidemiological Studies Depression Scale and the Beck Hopelessness Scale. The genetic counselor asked the participants about their suicidal ideation, recent and past history of depression and the degree of worry each cancer. To date, 23 participants have completed their first visit. Eight of the 23 (34.7%) were on antidepressants or anti-anxiety medication at the time of their enrollment. Five of the 23 (21.7%) met the criteria established by the project staff for further psychological assessment. Four of these individuals were identified on the basis of the psychological measures and interviews, one person was identified by the interviews alone. Two approaches were used to further assess psychological well being: in one, the participants met with the project psychologist and in the other, those participants who were currently in therapy had the project psychologist contact their therapist. In some cases, both approaches were utilized. Patient cases highlighting our program's approach to dealing with psychologically more complex cases will be presented, Our early series of patients suggests that there is clearly a need for the availability of psychological assessment for some individuals undergoing genetic testing and it is imperative that a mechanism be in place to identify those individuals who warrant further psychological assessment. The purpose of this assessment is not to deny the participant the opportunity to learn his or her results but to ensure that testing is provided in the safest manner possible for the participant.



Counseling Issues in Trisomy 16 Mosaicism Elizabeth A. Leeth

Evanston Hospital, Evanston, Illinois Very few cases of prenatally diagnosed mosaic trisomy 16 have been reported. However, since trisomy 16 is the most common autosomal trisomy found in spontaneous abortions, it is likely that with the onset of more sensitive prenatal screening (i.e., maternal serum screening and high resolution ultrasound) that the detection of mosaic trisomy 16 fetuses will increase. This brings forth the need for more information so that physicians and genetic counselors can provide more accurate prenatal counseling. Past literature, while limited, has been devoted to the natural history of trisomy 16 mosaicism and the prognostic indicators of pregnancy outcome (i.e., ultrasound evaluation, chromosomal analysis of different tissues from CVS, amniocentesis, and PUBS, and UPD studies). However, little has been written about the psychological impact and counseling concerns involved in these cases. The counseling for these cases is unique because trisomy 16 alone is considered incompatible with life. It is difficult for health care providers to counterbalance this fact, even though liveborn cases, some of whom have achieved normal milestones, have been reported. This is further complicated by small numbers involving young children which leads to little prognostic value for developmental expectations. This separates mosaic trisomy 16 cases from other chromosomal mosaicisms in which we are more knowledgeable and familiar with both the full trisomy and mosaic states. Presented are two cases of prenatally diagnosed mosaic trisomy 16 fetuses. The indication for amniocentesis in both cases was abnormal maternal serum screens. Both couples received the mosaic trisomy 16 results from their obstetricians and were referred for genetic counseling. Initial counseling sessions included the following: (1) explanation of results including possible etiologies, (2) review of the literature showing range of outcomes of mosaic trisomy 16 cases, (3) a discussion of possible further testing options (i.e., repeat amnio, CVS, PUBS, and UPD studies), (4) review of possible pregnancy complications seen in mosaic cases (i.e., IUGR, preterm delivery, IUFD), (5) options for current pregnancy (continue, adoption, termination), and (6) referral to M.D. geneticist, neonatology, and support services. Both couples considered all available information. The identical information provided to these two couples resulted in different decision making. One couple terminated the pregnancy at 23 weeks gestation after a normal ultrasound at 21 weeks and a subsequent CVS resulted in trisomy 16 in all cells analyzed. The second couple continued the pregnancy after an ultrasound that showed borderline normal growth, echogenic bowel, and suspected VSD. This pregnancy resulted in a preterm delivery at 29.5 weeks gestation of a SGA female who required no respiratory assistance and has experienced only minor complications at present. The counseling issues encountered along with an explanation of possible further testing protocols will be addressed. Also, impact of genetic counseling and the decisionmaking process in these particular cases will be examined.



Autosomal Dominant Short Stature, Facial Dysmol~hism and Sensoneural Deafness Jo C. MacMillan, P. J. McGrath, Fy Chan, and D. Tudehope

Queensland Clinical Genetics Service, Royal Children's Hospital, Brisbane, Queensland A 27-year-old G3P1 woman was referred for genetic counseling following the ultrasound identification of a Dandy Walker variant at a 16 weeks gestation. She had previously terminated a female fetus with the same ultrasound findings. The woman herself had profound deafness, short stature (

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

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