Journal of Genetic Counseling, Vol. 3, No. 3, 1994
Practice Variability in Prenatal Genetic Counseling Ellen T. Matioff 1,2
This study demonstrated that the content of prenatal genetic counseling sessions varied from counselor to counselor and from center to center. The study was designed to examine which specific issues were included by genetic counselors in prenatal genetic counseling sessions, and to determine which factors led genetic counselors to include or exclude this information from such sessions. Data were collected by randomly surveying 200 full, master degree members of the National Society of Genetic Counselors (NSGC). Respondents provided information by deciding which of 45 specific issues they would include in a standard prenatal genetic counseling session, and which one factor from a bank of 11 factors most accurately described the reason for this decision. The results indicated that the issues included~excluded from sessions varied widely among genetic counselors. The results also indicated that Patient Education~Informed Decision Making (34.5%) played the largest role in decision making overall, with Standard at Center~Departmental Policy (1Z6%), Personal Experience~Preference (12.4%), and Applicability (10.9%) serving as the next three most important reasons for including or excluding issues from prenatal genetic counseling sessions. KEY WORDS: quality assurance; genetic counseling; standard of care; prenatal genetic counseling.
INTRODUCTION Genetic counseling is a delicate blend of art and science. It combines emotions, feelings and psychosocial issues with the concrete realities of 1SUNY Health Science Center, Department of Pediatrics, Syracuse, New York. 2Correspondence should be directed to Ellen T. Matloff, Department o f Pediatrics, SUNY Health Science Center, 750 E. Adams St., Syracuse, New York 13210. 215 1059-7700/94/0900-0215507.00/1 © 1994 National Societyof Genetic Counselors,Inc.
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medicine. Clearly, such complex sessions cannot follow one rigid format. Every counselor, patient, and session are unique, bringing with them distinct issues and concerns. However, each counselor has certain issues which he or she routinely discusses in every prenatal genetic counseling session. The issues discussed differ from counselor to counselor and from center to center. It has been recommended that during the prenatal genetic counseling session, the counselee(s) should be made aware of the limitations of the laboratory and ultrasound studies, and that these sessions should include a discussion of the possibility of maternal cell contamination and chromosome mosaicism (Milunsky, 1992). Milunsky (1992) also recommended that the time it will take to receive chromosome results following the procedure, as well as the possibility that no results will be obtained because of cell culture failure or contamination, must also be addressed during the counseling session. Kelly (1977) recommended that the counselee(s) need to be educated about genes and chromosomes and subsequently about meiosis. They should also be informed that prenatal diagnosis cannot detect small chromosomal rearrangements or the presence of deleterious genes. Kelly also recommended that if the family is concerned about structural chromosome rearrangements at this point, a more detailed explanation can be given. Although recommendations have been made as to which issues should be routinely discussed in prenatal genetic counseling sessions, few studies have examined which issues are actually discussed in such sessions. In this study, the actual content of a prenatal genetic counseling session was critically examined. Additionally, the reason counselors chose to include or exclude information from this session was assessed.
METHODS In November 1992 two hundred full, master degree members of the National Society of Genetic Counselors (NSGC) were selected at random and mailed a four-page questionnaire and a self-addressed stamped envelope in which the completed questionnaire was to be returned (Appendix). The questionnaire opened with the scenario of a client, Mrs. A, who was referred for counseling due to maternal age of 36 years. Mrs. A had a negative family history and was 8 weeks pregnant. Counselors were asked to decide if they would include each of 45 specific issues in this prenatal genetic counseling session, and to answer "YES" or "NO" accordingly. Af-
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ter each question they were then asked to circle the most fitting reason for this response from a bank of 11 responses. The 45 issues were divided into five separate sections: Section t Standard Procedures; Section 2 - General Information; Section 3 - Testing Options; Section 4 - Specific Procedure Related Information; and, Section 5 - Possible Result Outcomes. Counselors were also given the opportunity to comment on experiences which led them to include or exclude specific information from their genetic counseling sessions.
RESULTS
Demographics Of the 200 counselors surveyed, 126 counselors (63.0%) responded. Fourteen of these responses could not be used in the data analysis because they were received greater than one month following the return deadline, were not completed because the counselor did no prenatal counseling, or were incorrectly filled out. One hundred and twelve (56.0%) of the surveys were used in the data analysis for this study. Some respondents did not answer every question; therefore, percentages for each question are based only on those who did respond. Ninety three percent of the respondents were female, and their ages ranged from 24-54 with an average age of 33.4 years. Of the respondents, 30.4% had worked in the field of genetic counseling between 0-3 years, 33.9% from 3-8 years, 21.4% from 8-12 years, and 14.3% for more than 12 years. The primary focus of 75% of the respondents was prenatal counseling, while the remaining 25% had a primary focus of pediatric, adult or specialty counseling. The primary work setting of 63.4% of the respondents was in a University or Community hospital, while the remaining 36.6% worked in a private, commercial or other type of work setting (Table 1). Ninety-seven percent of the respondents received degrees in genetic counseling from one of 13 genetic counseling training programs, while 3% received a masters degree in related fields. Of the respondents, 27.8% reported seeing between 0-5 prenatal patients a week, 25% between 6-10/week, 33.3% between ll-15/week, and 13.9% reported seeing more than 16 prenatal patients a week. The time scheduled for prenatal patients was 0-30 minutes for 6.5% of the respondents, between 31 and 60 minutes for 73.8% of respondents, and more than 61 minutes for 19.6% of the respondents.
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Matloff Table I. Demographics
Sex Female Male
Number of respondents
Percentage
105 7
93.7% 6.3%
72 31 7
65.5% 28.2% 6.4%
34 38 24 16
30.4% 33.9% 21.4% 14.3%
69 23
75,0% 25.0%
71
63.4%
41
36.6%
Age 24-34 35--44 45-54
Years in field 0-3 >3-8 >8-12 >12
Primary focus Prenatal Non-prenatal Work setting University Community Private/ Commercial/ Other
Participant Responses Table II fists the responses of study participants to Section 1 - - Standard Procedures. The findings indicated that the majority of counselors (91.9%) would meet with this patient individually. One genetic counselor commented that her center did not offer group counseling because of lack of space. Another wrote that she did not like group counseling for reasons of patient confidentiality. Other counselors commented that they preferred one-to-one counseling because they thought it was beneficial to the patients. In Section I I - - G e n e r a l Information, the counselors' responses were similar on some issues, such as including specific maternal age related risks (98.2% Yes, 1.8% No) and were split on others, such as discussing the miscarriage rate in the general population (46.4% Yes, 53.6% No) (Table III). One counselor commented, "Sometimes more information serves to confuse, rather than to clarify," while another added, "Too much detail in
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Table II. Section 1 - Standard Procedures Yes (%)
No (%)
I8.2 73.6 91.9 20.0
81.8 26.4 8.1 80.0
Yes (%)
No (%)
98.2 25.2 46.4 91.9 95.5 61.3
1.8 74.8 53.6 8.1 4.5 38.7
1. At your center, does this patient standardly: a. b. c. d.
See a videotape or slide presentation on prenatal diagnosis? Receive written information on prenatal dx? Meet with a genetic counselor individually? Meet in a group with other patients and a genetic counselor?
Table III. Section 2 -
General Information
2. Which of the following issues do you always verbally discuss with this patient? a. Specific maternal age related risks b. Paternal age related risks c. Miscarriage rate in the general population d. Rate of birth defects/genetic diseases in general population e. Explanation/review of chromosomes f. Explanation/review of genes
a session detracts from a patient's ability to focus on the major points needed to be adequately informed." One counselor wrote that she felt strongly that informed decision making was dependent on information, and therefore she usually discussed as many issues as possible, if only briefly. The findings in Section H I - - T e s t i n g Options, indicated that while the majority of respondents would include some options, like amniocentesis (98.2%), less than half would include other options, like early amniocentesis (48.2%) (Table IV). One counselor commented that her center had made a policy decision not to offer or discuss double or triple screen until State policy or ACOG policy was published. Several counselors wrote that CVS was not offered at their center, and therefore it was not routine to discuss this option with their patients. Others felt that even if their center did not offer a test, their patients had the right to know that this test was available at other centers. One hundred percent of the counselors reported that they would discuss the choice to not have testing. In Section 4 m P r o c e d u r e Related I n f o r m a t i o n - - a l l counselors (100%) reported that they would include the risk of miscarriage following amniocentesis in this session. The largest difference in response was noted to question 4 to which 51.4% of counselors indicated they would include the possibility that an additional procedure would be necessary following
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220 Table IV. Section 3 -
3. Do you a. b. c. d. e. f. g. h.
always verbally
Testing Options Yes (%)
No (%)
98.2 48.2 74.8 73.6 44.5 100.0 81.3 68.8
1.8 51.8 25.2 26.4 55.5 0.0 18.7 31.2
discuss the options off
Amniocentesis Early amnio CVS MSAFP Double or triple screen Choice not to have testing Termination Level II ultrasound
amniocentesis, while 48.6% of counselors would not. One counselor commented that at her center a nurse covered procedure related information. At other centers, this information was given to patients by physicians or in written information. Also 54.4% of counselors would cover the possibility that a second pass may be necessary during amniocentesis, while 44.6% would not (Table V). Table VI lists the counselors' responses to Section V - - P o s s i b l e Result Outcomes. One hundred percent reported that they would not discuss isodisomy/heterodisomy in this prenatal counseling session. The greatest difference in response was to question 5b, to which 47.3% of counselors reported that they would specifically discuss deletions/additions/insertions, while 52.7% would not. Additionally, 43.6% of counselors would specifically discuss the possibility of translocations, while 56.4% would not. Less than 40% of counselors (39.6%) would specifically include mosaicism in this session. One counselor explained, "I include sex chromosome aneuploidies as they have been more frequent in my experience, but I avoid marker chromosomes and isodisomies because I feel that you can overwhelm the patient about birth defects and significantly increase their anxiety for a condition which is rare."
Reasons for Response Table VII lists the total reasons for including/excluding issues from prenatal genetic counseling sessions. Respondents listed Patient Education/Informed Decision Making as the factor which most influenced which issues they would include/exclude from a session. This factor contributed to 34.5% of decision making overall. Standard at Center/Departmental Pol-
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Table V. Section 4 - - P r o c e d u r e Related Information Yes (%)
No (%)
93.8 94.6 94.6 99.1 92.0 97.3 10.1
6.2 5.4 5.4 0.9 8.0 2.7 89.9
94.5 100.0
5.5 0.0
Risk of maternal infection with j. CVS k. Amnio
74.1 74.1
25.9 25.9
Chance that 2nd pass may be necessary with I. CVS m. Amnio
74.8 55.4
25.2 44.6
Possibility that an additional procedure may be necessary with n. CVS o. Amnio
84.1 51.4
15.9 48.6
Risk of maternal cell contamination with p. CVS q. Amnio
71.0 27.0
29.0 73.0
Risk of cells failing to grow in the lab with r. CVS s. Amnio
70.4 68.8
29.6 31.2
Possible risk of limb reduction defects with t. CVS
87.0
13.0
Yes (%)
No (%)
43.6 47.3 10.9 39.6 4.5 0,0 68.8
56.4 52.7 89.1 60.4 95.5 100.0 31.2
4. D o you always include: a. A detailed description of the procedure b. Precautions following the procedure c. Warning signs following the procedure d. When results will be ready e. Accuracy of test f. Limitation of test (cannot detect blindness, metabolic disease, etc.) g. Amniotic fluid embolism Risk of miscarriage following h. CVS i. Amnio
Table VI, Section 5 -
Possible Result Outcomes
5. Do you always specifically discuss the possibility of." a. Translocations b. Deletions/additions/insertions c. Marker chromosomes d. Mosaicism e. Recombinations/crossovers f. Isodisomy/heterodisomy g. Sex chromosome aneuploidies
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222 Table VII. Reasons for Including~xcluding
Issues from Sessions Reason for response Patient education Standard at center Personal experience Applicability Frequency Time Patient well being Packaged material Legal liability Training New studies
Percentage 35.5% 17.6% 12.4% 10.9% 6.7% 6.3% 3.2% 3.0% 2.7% 2.4% 0.2%
icy (17.6%), Personal Experience/Preference (12.4%), and Applicability (10.9%) were the next most common reasons indicated for including or excluding information from a session. New/Current studies (0.2%), Graduate Training (2.4%), and Legal Liability (2.7%) were the three least common reasons for response.
DISCUSSION In 1979 Capron described the field of genetic counseling as being a relatively young one, with an absence of any form of licensure or certification. Therefore, its providers had a wide variety of backgrounds and orientations toward treatment. The diversity within the field lead to confusion concerning the professional standards governing counselors' conduct. Since the counselors were so heterogenous in training and background, it was not feasible to apply a single standard to everyone in the field. In fact, it was questioned if genetic counseling could truly be considered a distinct field. Only 1 year later the National Society of Genetic Counselors (NSGC) was formed, uniting genetic counselors (Scott, 1992). The goals of the NSGC included fostering the profession of genetic counseling through education, communication, and other relevant activities. Individuals with master's degrees became board eligible for certification as genetic counselors in 1980 when medical specialty boards were developed in the field of human genetics (Rollnick, 1984). The field continued to advance with the development of a professional code of ethics and the Journal of Genetic' Counseling in 1992 (Benkendorf et al., 1990).
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Genetic counseling as a field has definitely carved out its own professional niche. The expectations and goals of the counselor have been established, and training programs have set professional requirements (Scott, 1992). Have standards of care developed along with the evolution of the field? The goal of this study was to attempt to answer that question. The demographic makeup of the study's respondents was rather homogeneous, with the majority being female (93.7%), between the ages of 24-44 (93.7%), and having between 0-8 years of genetic counseling experience (64.5%). Three quarters had a primary focus of prenatal genetic counseling, and graduated from one of four graduate training programs. The majority worked in a University or Community Hospital (63.4%), reported seeing between 6-15 patients per week (58.3%), and had between 31-60 minutes scheduled per session (73.8%). The results of this study revealed that the respondents, although demographically very similiar, differed greatly in what they would include in the described prenatal genetic counseling session. It is clear that the content of prenatal genetic counseling sessions continues to vary significantly from counselor to counselor, even though the field and its providers are better defined. Marc Lappe's 1979 description of the field still applies, "The configuration of genetic counseling suggests that a profession may be as pleiomorphic in its manifestations and as heterogeneous in its origins as the most complex polygenic trait." Although the respondents varied on which issues they would include in the given prenatal genetic counseling session, their reasons for including/excluding issues were similar. Forty-five percent of the decision making overall was based on Patient Education/Informed Decision Making (34.5%) and Applicability (10.9%). The fact that respondents listed Patient Education/Informed Decision Making as the primary reason for response correlates with the NSGC Code of Ethics which states that, "Genetic counselors strive to enable their clients to make informed decisions, free of coercion, by providing or illuminating the necessary facts and clarifying the alternatives and anticipated consequences (Benkendorf et al., 1993)." It is the respondents' interpretation of which issues are important for informed consent, and which are applicable, that differ. Respondents' comments regarding the survey's opening scenario also illustrated this theme of varying interpretations and actions. The patient scenario simplistically described a 36 year old female who was 8 weeks pregnant, had a negative family history and wished to know her options for prenatal diagnosis. The scenario purposefully excluded information regarding the patient's religious and ethnic background, marital status, economic and educational background, and even which language she spoke. These factors
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were left undefined in an attempt to make respondents examine which issues they felt were so crucial to a session that they would always include them, regardless of these variables. Respondents agreed that these missing pieces of the puzzle could alter the scenario, but were divided on whether or not these factors would change the content of their sessions. One counselor wrote, "Much of my work is with 'underserved' clients who can only be given basics for Informed Consent without getting overwhelmed." Another counselor commented that she would not vary the actual content of the session, but would instead change her style. "{I don't} exclude any issues but simplify or generalize depending on education level or language barrier." Although many respondents commented that the unknown patient variables would alter the session, some clearly meant that the content would be altered, while others meant that the degree of detail would be altered. Burke and Kolker also studied the content of prenatal genetic counseling sessions in their paper, "Variation in Content in Prenatal Genetic Counseling Interviews" (Burke and Kolker, 1994). One hundred percent of their respondents indicated that they would include the procedural complication rates in an "ordinary prenatal diagnosis session for maternal age." Additionally, 91% (21/23) of respondents in centers offering both CVS and Amniocentesis and all (7/7) respondents in centers offering Amniocentesis only, would include age related Down syndrome and/or other risk rates in such a counseling session. Fifty-six percent of CVS Counselors, and 71% of Amnio Counselors would describe sex chromosome abnormalities in this session. Similarly, the data of the present study revealed that the vast majority of respondents would include the procedural risk of miscarriage (94.5% with CVS/100% with Amnio) in this maternal age session, q~ree quarters would also include the risk of maternal infection with both CVS and Amnio. Almost all (98.2%) would include maternal age related risks, while 69% would specifically discuss the possibility of sex chromosome aneuploidies (compared to 56% of the CVS counselors, and 71% of the Amnio counselors in the Burke and Kolker study). The remaining thirteen questions of the Burke and Kolker study did not correspond with the other 42 questions featured in the present study. Burke and Kolker focused several questions on the way procedures felt, and on descriptions of tests such as a sonogram. The present author's paper focused on very specific options, risks, and possible abnormal results. The differences between the two study focuses may be explained in part by the differing backgrounds of the authors: Burke and Kolker are based in sociology, while this author is based in genetic counseling. The findings of the Burke and Kolker study and of the present study are remarkably similar despite major differences in methodology. Perhaps the most significant difference between the studies is that the Burke-Kolker
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study separated the respondents into two categories: those whose Centers offered both CVS and Amniocentesis (CVS counselors), and those whose Centers offered only Amniocentesis (Amnio counselors). Perhaps it was assumed that Amnio counselors would only see patients who were too advanced in gestational age to have CVS. Or, perhaps it was assumed that a counselor is not responsible for discussing a procedure not offered at her Center. The data from the present study revealed that only 75% of respondents would verbally discuss the option of CVS with Mrs. A who is 8 weeks pregnant. Less than 50% would discuss the option of early amniocentesis with Mrs. A. Many respondents commented that CVS and/or early amnio are not offered at their Center and therefore they would not verbally discuss this option with this patient. What is our obligation to this patient? It is ironic that while Patient Education/Informed Decision Making was listed as the primary reason for response, as many as 50% of the respondents did not inform the patient of all of her possible options. Perhaps some would argue that the nearest facility offering these other tests was too far for the patient to travel. Or perhaps departmental policy regulates the discussion of tests not offered at that facility. These arguments are not based in the same logic found in the Code of Ethics which supports patient autonomy and informed independent decision making. Without all of the facts and available information, it is impossible for a client to make an informed decision. The Code of Ethics also states that a counselor should refer clients to other competent professionals when they are unable to provide her with appropriate services. Therefore, if a counselor cannot provide a client with all of the available information regarding prenatal diagnosis, or any other topic, it is her obligation to refer the client elsewhere. The Code also indicates that counselors should avoid the exploitation of the client for personal advantage, profit, or interest (Benkendorf et al., 1993). While it is unlikely that a counselor would personally benefit in any of these ways from withholding information about procedures not offered at their centers, it is possible that the center may benefit. Counselors at centers which do not "allow" them to discuss procedures for which patients would have to go elsewhere may be part of the process of "personal" (here meaning the center's) gain. Counselors may be part of this process against their will or unconsciously, but they are still part of the process. Genetic counselors have legal as well as ethical responsibilities. The duty of the genetic counselor includes complying with a standard of care which is generally applicable to similar practitioners. This study proves that that standard is not a clear cut one. A counselor is negligent when he or she breaches a legally recognized duty or obligation, and injury is caused
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by the breach of duty. Whether the failure of genetic counseling results from the counselor's inadequate knowledge base, negligent failure to disclose certain information, or conscious decision not to disclose information, liability will be based on damages (Rhodes, 1987). The most common basis for liability results when nondisclosure leads to the birth of a child with a genetic disorder or a birth defect, which could have been predicted by the exercise of reasonable care under the circumstances (Rhodes, 1987). This usually occurs when parents have not been given correct or adequate information regarding their genetic risks. Is it possible that a counselor would be liable for not providing information about a procedure? For example, the woman in this study's scenario is offered only amniocentesis. Perhaps she does not choose an amniocentesis because she would not have an abortion past the first trimester. She does not share this information with the counselor, but simply states she is not interested in an amnio. If she has a child with a chromosome abnormality that she would have aborted had she found out via CVS in the first trimester, is the counselor responsible for the nondisclosure? Rhodes (1987) states that if a birth of a child with impairments could have been avoided through information and counseling, the counselor is responsible. Capron (1979) states that the counselor is liable if the couple would have, by contraception, abortion, artificial insemination, or other means, have avoided the birth of an affected child had the counselor not breached his or her duty. At this time there are no guidelines for Quality Assurance in the field of Genetic Counseling. Although it is understood that every session is unique and that every patient is unique, there are certain issues that individual counselors include in every prenatal genetic counseling session. It is time for us, as a professional society, to carefully examine the content of our sessions and to decide if quality assurance provisions are needed, or if we are satisfied with the diversity in our profession. "Standards which will govern the field of genetic counseling will be based on the degree of uniformity of conduct that can be expected of practitioners. The courts may have a substantial role in setting these standards if the profession does not do it first (Rhodes, 1987)."
ACKNOWLEDGMENTS Original data for this study were collected as part of a masters degree thesis in genetic counseling at Northwestern University, Chicago, IL. Special thanks to Thelma McQuiston for preparing this manuscript, to Cate Church for her valuable insights, and to Maureen Smith, Terri Knutel, Karen Niedermeyer, Charlene Schulz, and David and Martha Matloft for their invaluable assistance and support.
Practice Variability in Prenatal Genetic Counseling
227
APPENDIX
Every genetic counseling session is obviously unique, yet counselors routinely discuss certain issues in every standard prenatal session. Assume a client, Mrs. A, is referred for counseling due to maternal age = 36. Family history is negative. She is currently 8 weeks pregnant and wishes to learn her options for prenatal diagnosis. Please carefully read choices 1-11 below: 1. Time allowed in session 2. Covered in videotape/slides/written information/consent form 3. New/current studies 4. Standard at my center/departmental policy 5. Legal liability 6. Personal experience/preference 7. Applicability 8. Patient education/informed decision making 9. Frequency of occurrence/recurrence 10. Consideration of patient well being 11. Graduate training **In the following questions, please circle yes/no after each issue; then, circle the one choice from 1-11 above which most accurately describes your decision to include/exclude the following issues in your prenatal session with Mrs. A: 1. At your center, does this patient standardly: a. See a videotape or slide presentation on prenatal diagnosis? Y N 1234567891011 b. Receive written information on prenatal diagnosis? Y N 1234567891011 c. Meet with a genetic counselor individually? Y N 1234567891011 d. Meet in a group with other patients and a genetic counselor? Y N 1234567891011 2. Which of the following issues do you always verbally discuss (as opposed to visual/written information) with this patient? a. Specific maternal age related risks Y N 1234567891011 b. Paternal age related risks Y N 1234567891011 c. Miscarriage rate in the general population Y N 1234567891011
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Practice Variability in Prenatal Genetic Counseling
* risk of maternal cell contamination p. with CVS Y N q. with amnio Y N . risk of cells failing to grow in the lab r. with CVS Y N s. with amnio Y N • possible risk of limb reduction defects t. with CVS Y N 5. Do you always specifically discuss a. translocations b. deletions/additions/insertions c. marker chromosomes d. mosaicism e. recombination/crossovers f. isodisomy/heterodisomy g. sex chromosome aneuploidies
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229
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Please complete the following information about yoursel~ 6. Are you male or female?
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7. Your age? 8. Please circle the number of years you have worked in the field: 3-5 >5-8 >8-10 >10-12 >12-14 >14 9. Please circle your current primary focus: a. prenatal b. pediatric c. adult d. specialty clinic, please specify e. other 10. Your current primary work setting: a. University b. Community hospital c. Private/commercial d. other 11. The genetic counseling training program where you received your degree:
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12. Approximately how many prenatal patients do you see per week? 0-5 6-10 11-15 16-20 21-25 >25 13. How much time is scheduled at your center for a standard prenatal patient? 0-30 minutes 31-60 minutes 61-90 minutes >90 minutes 14. In the space provided, please share any of your thoughts or experiences which have lead you to include/exclude specific information from your genetic counseling sessions.
REFERENCES Benkendorf JL, Callanan NP, Grobstein R, Schmerler S, FitzGerald KT (1992) An explication of the National Society of Genetic Counselors (NSGC) Code of Ethics. Y Genet Counsel 1(1):31-39. Blumenthal D, Heimler A, Edelman C, Engelberg J, Feldman BD, Sitron N (1990) A protocol for genetic counseling following abnormal prenatal diagnosis. Birth Defects: Orig Art Ser 26(3):157-160. Burke MB, Kolker A (1994) Variation in content in prenatal genetic counseling interviews. J Genet Counsel 3(1):23-38. Capron AM (1979) Autonomy, confidentiality and quality care in genetic counseling. Birth Defects: Orig Art Set" X V (2):307-340. Emery AEH (1975) Genetic counselling. Brit Med ar 3:219-221. Epstein CJ, Childs B, Fraser FC, MeKusick VA, Miller JR, Motulsky AG, Rivas M, Thompson MW, Shaw MW, Sly WS (1975) Report from the ad hoe Committee on Genetic Counseling. A m J Hum Genet 27:240-242. Fraser FC (1970) Counseling in genetics: Its intent and scope. Birth Defects: Orig Art Ser 6(1):7-12. Kelly PT (1977) Dealing with Dilemma: A Manual for Genetic Counselors. New York: Springer-Verlag. Kessler S (ed) (1979) Genetic Counseling: Psychological Dimensions. New York: Academic Press. Lappe M (1979) Genetic counseling in psychological and social perspective: Introduction. Birth Defects: Orig Art Ser XV(2):81-83. Lippman-Hand A, Fraser FC (1979) Genetic counseling: Provision and reception of information. A m Y Med Genet 3:113-127. Milunsky A (ed) (1992) Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment (3rd Ed). Maryland: The Johns Hopkins University Press. Murphy EA, Chase GA (1975) Principles of Genetic Counseling. Chicago: Year Book Medical Publisher. Rhodes A (1987) Legal issues in perinatal care. Birth Defects: Orig Art Ser 23(6):1-15. Rollnick B (1984) The National Society Of Genetic Counselors: an historical perspective. Birth Defects: Orig Art Ser 20(6):3-7. Rubin SP, Malin J, Maidman J (1983) Genetic counseling before prenatal diagnosis ~br advanced maternal age: An important medical safeguard. Obstet Gyneeol 62 (2) 155-159.
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Scott JA (1992) Introductory comments. J Genet Counsel 1(1):5-7. Stevenson AC, Davison BCC, Oakes MW (1976) Genetic Counseling (2nd Ed). Philadelphia: J.B. Lippincott Company. World Health Organization Expert Committee (1969) Genetic counselling. WHO Tech Rep 416:5-23.
Practice Variability in Prenatal Genetic Counseling Ellen T. Matioff 1,2
This study demonstrated that the content of prenatal genetic counseling sessions varied from counselor to counselor and from center to center. The study was designed to examine which specific issues were included by genetic counselors in prenatal genetic counseling sessions, and to determine which factors led genetic counselors to include or exclude this information from such sessions. Data were collected by randomly surveying 200 full, master degree members of the National Society of Genetic Counselors (NSGC). Respondents provided information by deciding which of 45 specific issues they would include in a standard prenatal genetic counseling session, and which one factor from a bank of 11 factors most accurately described the reason for this decision. The results indicated that the issues included~excluded from sessions varied widely among genetic counselors. The results also indicated that Patient Education~Informed Decision Making (34.5%) played the largest role in decision making overall, with Standard at Center~Departmental Policy (1Z6%), Personal Experience~Preference (12.4%), and Applicability (10.9%) serving as the next three most important reasons for including or excluding issues from prenatal genetic counseling sessions. KEY WORDS: quality assurance; genetic counseling; standard of care; prenatal genetic counseling.
INTRODUCTION Genetic counseling is a delicate blend of art and science. It combines emotions, feelings and psychosocial issues with the concrete realities of 1SUNY Health Science Center, Department of Pediatrics, Syracuse, New York. 2Correspondence should be directed to Ellen T. Matloff, Department o f Pediatrics, SUNY Health Science Center, 750 E. Adams St., Syracuse, New York 13210. 215 1059-7700/94/0900-0215507.00/1 © 1994 National Societyof Genetic Counselors,Inc.
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medicine. Clearly, such complex sessions cannot follow one rigid format. Every counselor, patient, and session are unique, bringing with them distinct issues and concerns. However, each counselor has certain issues which he or she routinely discusses in every prenatal genetic counseling session. The issues discussed differ from counselor to counselor and from center to center. It has been recommended that during the prenatal genetic counseling session, the counselee(s) should be made aware of the limitations of the laboratory and ultrasound studies, and that these sessions should include a discussion of the possibility of maternal cell contamination and chromosome mosaicism (Milunsky, 1992). Milunsky (1992) also recommended that the time it will take to receive chromosome results following the procedure, as well as the possibility that no results will be obtained because of cell culture failure or contamination, must also be addressed during the counseling session. Kelly (1977) recommended that the counselee(s) need to be educated about genes and chromosomes and subsequently about meiosis. They should also be informed that prenatal diagnosis cannot detect small chromosomal rearrangements or the presence of deleterious genes. Kelly also recommended that if the family is concerned about structural chromosome rearrangements at this point, a more detailed explanation can be given. Although recommendations have been made as to which issues should be routinely discussed in prenatal genetic counseling sessions, few studies have examined which issues are actually discussed in such sessions. In this study, the actual content of a prenatal genetic counseling session was critically examined. Additionally, the reason counselors chose to include or exclude information from this session was assessed.
METHODS In November 1992 two hundred full, master degree members of the National Society of Genetic Counselors (NSGC) were selected at random and mailed a four-page questionnaire and a self-addressed stamped envelope in which the completed questionnaire was to be returned (Appendix). The questionnaire opened with the scenario of a client, Mrs. A, who was referred for counseling due to maternal age of 36 years. Mrs. A had a negative family history and was 8 weeks pregnant. Counselors were asked to decide if they would include each of 45 specific issues in this prenatal genetic counseling session, and to answer "YES" or "NO" accordingly. Af-
Practice Variability in Prenatal Genetic Counseling
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ter each question they were then asked to circle the most fitting reason for this response from a bank of 11 responses. The 45 issues were divided into five separate sections: Section t Standard Procedures; Section 2 - General Information; Section 3 - Testing Options; Section 4 - Specific Procedure Related Information; and, Section 5 - Possible Result Outcomes. Counselors were also given the opportunity to comment on experiences which led them to include or exclude specific information from their genetic counseling sessions.
RESULTS
Demographics Of the 200 counselors surveyed, 126 counselors (63.0%) responded. Fourteen of these responses could not be used in the data analysis because they were received greater than one month following the return deadline, were not completed because the counselor did no prenatal counseling, or were incorrectly filled out. One hundred and twelve (56.0%) of the surveys were used in the data analysis for this study. Some respondents did not answer every question; therefore, percentages for each question are based only on those who did respond. Ninety three percent of the respondents were female, and their ages ranged from 24-54 with an average age of 33.4 years. Of the respondents, 30.4% had worked in the field of genetic counseling between 0-3 years, 33.9% from 3-8 years, 21.4% from 8-12 years, and 14.3% for more than 12 years. The primary focus of 75% of the respondents was prenatal counseling, while the remaining 25% had a primary focus of pediatric, adult or specialty counseling. The primary work setting of 63.4% of the respondents was in a University or Community hospital, while the remaining 36.6% worked in a private, commercial or other type of work setting (Table 1). Ninety-seven percent of the respondents received degrees in genetic counseling from one of 13 genetic counseling training programs, while 3% received a masters degree in related fields. Of the respondents, 27.8% reported seeing between 0-5 prenatal patients a week, 25% between 6-10/week, 33.3% between ll-15/week, and 13.9% reported seeing more than 16 prenatal patients a week. The time scheduled for prenatal patients was 0-30 minutes for 6.5% of the respondents, between 31 and 60 minutes for 73.8% of respondents, and more than 61 minutes for 19.6% of the respondents.
218
Matloff Table I. Demographics
Sex Female Male
Number of respondents
Percentage
105 7
93.7% 6.3%
72 31 7
65.5% 28.2% 6.4%
34 38 24 16
30.4% 33.9% 21.4% 14.3%
69 23
75,0% 25.0%
71
63.4%
41
36.6%
Age 24-34 35--44 45-54
Years in field 0-3 >3-8 >8-12 >12
Primary focus Prenatal Non-prenatal Work setting University Community Private/ Commercial/ Other
Participant Responses Table II fists the responses of study participants to Section 1 - - Standard Procedures. The findings indicated that the majority of counselors (91.9%) would meet with this patient individually. One genetic counselor commented that her center did not offer group counseling because of lack of space. Another wrote that she did not like group counseling for reasons of patient confidentiality. Other counselors commented that they preferred one-to-one counseling because they thought it was beneficial to the patients. In Section I I - - G e n e r a l Information, the counselors' responses were similar on some issues, such as including specific maternal age related risks (98.2% Yes, 1.8% No) and were split on others, such as discussing the miscarriage rate in the general population (46.4% Yes, 53.6% No) (Table III). One counselor commented, "Sometimes more information serves to confuse, rather than to clarify," while another added, "Too much detail in
Practice Variability in Prenatal Genetic Counseling
219
Table II. Section 1 - Standard Procedures Yes (%)
No (%)
I8.2 73.6 91.9 20.0
81.8 26.4 8.1 80.0
Yes (%)
No (%)
98.2 25.2 46.4 91.9 95.5 61.3
1.8 74.8 53.6 8.1 4.5 38.7
1. At your center, does this patient standardly: a. b. c. d.
See a videotape or slide presentation on prenatal diagnosis? Receive written information on prenatal dx? Meet with a genetic counselor individually? Meet in a group with other patients and a genetic counselor?
Table III. Section 2 -
General Information
2. Which of the following issues do you always verbally discuss with this patient? a. Specific maternal age related risks b. Paternal age related risks c. Miscarriage rate in the general population d. Rate of birth defects/genetic diseases in general population e. Explanation/review of chromosomes f. Explanation/review of genes
a session detracts from a patient's ability to focus on the major points needed to be adequately informed." One counselor wrote that she felt strongly that informed decision making was dependent on information, and therefore she usually discussed as many issues as possible, if only briefly. The findings in Section H I - - T e s t i n g Options, indicated that while the majority of respondents would include some options, like amniocentesis (98.2%), less than half would include other options, like early amniocentesis (48.2%) (Table IV). One counselor commented that her center had made a policy decision not to offer or discuss double or triple screen until State policy or ACOG policy was published. Several counselors wrote that CVS was not offered at their center, and therefore it was not routine to discuss this option with their patients. Others felt that even if their center did not offer a test, their patients had the right to know that this test was available at other centers. One hundred percent of the counselors reported that they would discuss the choice to not have testing. In Section 4 m P r o c e d u r e Related I n f o r m a t i o n - - a l l counselors (100%) reported that they would include the risk of miscarriage following amniocentesis in this session. The largest difference in response was noted to question 4 to which 51.4% of counselors indicated they would include the possibility that an additional procedure would be necessary following
Matloff
220 Table IV. Section 3 -
3. Do you a. b. c. d. e. f. g. h.
always verbally
Testing Options Yes (%)
No (%)
98.2 48.2 74.8 73.6 44.5 100.0 81.3 68.8
1.8 51.8 25.2 26.4 55.5 0.0 18.7 31.2
discuss the options off
Amniocentesis Early amnio CVS MSAFP Double or triple screen Choice not to have testing Termination Level II ultrasound
amniocentesis, while 48.6% of counselors would not. One counselor commented that at her center a nurse covered procedure related information. At other centers, this information was given to patients by physicians or in written information. Also 54.4% of counselors would cover the possibility that a second pass may be necessary during amniocentesis, while 44.6% would not (Table V). Table VI lists the counselors' responses to Section V - - P o s s i b l e Result Outcomes. One hundred percent reported that they would not discuss isodisomy/heterodisomy in this prenatal counseling session. The greatest difference in response was to question 5b, to which 47.3% of counselors reported that they would specifically discuss deletions/additions/insertions, while 52.7% would not. Additionally, 43.6% of counselors would specifically discuss the possibility of translocations, while 56.4% would not. Less than 40% of counselors (39.6%) would specifically include mosaicism in this session. One counselor explained, "I include sex chromosome aneuploidies as they have been more frequent in my experience, but I avoid marker chromosomes and isodisomies because I feel that you can overwhelm the patient about birth defects and significantly increase their anxiety for a condition which is rare."
Reasons for Response Table VII lists the total reasons for including/excluding issues from prenatal genetic counseling sessions. Respondents listed Patient Education/Informed Decision Making as the factor which most influenced which issues they would include/exclude from a session. This factor contributed to 34.5% of decision making overall. Standard at Center/Departmental Pol-
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221
Table V. Section 4 - - P r o c e d u r e Related Information Yes (%)
No (%)
93.8 94.6 94.6 99.1 92.0 97.3 10.1
6.2 5.4 5.4 0.9 8.0 2.7 89.9
94.5 100.0
5.5 0.0
Risk of maternal infection with j. CVS k. Amnio
74.1 74.1
25.9 25.9
Chance that 2nd pass may be necessary with I. CVS m. Amnio
74.8 55.4
25.2 44.6
Possibility that an additional procedure may be necessary with n. CVS o. Amnio
84.1 51.4
15.9 48.6
Risk of maternal cell contamination with p. CVS q. Amnio
71.0 27.0
29.0 73.0
Risk of cells failing to grow in the lab with r. CVS s. Amnio
70.4 68.8
29.6 31.2
Possible risk of limb reduction defects with t. CVS
87.0
13.0
Yes (%)
No (%)
43.6 47.3 10.9 39.6 4.5 0,0 68.8
56.4 52.7 89.1 60.4 95.5 100.0 31.2
4. D o you always include: a. A detailed description of the procedure b. Precautions following the procedure c. Warning signs following the procedure d. When results will be ready e. Accuracy of test f. Limitation of test (cannot detect blindness, metabolic disease, etc.) g. Amniotic fluid embolism Risk of miscarriage following h. CVS i. Amnio
Table VI, Section 5 -
Possible Result Outcomes
5. Do you always specifically discuss the possibility of." a. Translocations b. Deletions/additions/insertions c. Marker chromosomes d. Mosaicism e. Recombinations/crossovers f. Isodisomy/heterodisomy g. Sex chromosome aneuploidies
Matloff
222 Table VII. Reasons for Including~xcluding
Issues from Sessions Reason for response Patient education Standard at center Personal experience Applicability Frequency Time Patient well being Packaged material Legal liability Training New studies
Percentage 35.5% 17.6% 12.4% 10.9% 6.7% 6.3% 3.2% 3.0% 2.7% 2.4% 0.2%
icy (17.6%), Personal Experience/Preference (12.4%), and Applicability (10.9%) were the next most common reasons indicated for including or excluding information from a session. New/Current studies (0.2%), Graduate Training (2.4%), and Legal Liability (2.7%) were the three least common reasons for response.
DISCUSSION In 1979 Capron described the field of genetic counseling as being a relatively young one, with an absence of any form of licensure or certification. Therefore, its providers had a wide variety of backgrounds and orientations toward treatment. The diversity within the field lead to confusion concerning the professional standards governing counselors' conduct. Since the counselors were so heterogenous in training and background, it was not feasible to apply a single standard to everyone in the field. In fact, it was questioned if genetic counseling could truly be considered a distinct field. Only 1 year later the National Society of Genetic Counselors (NSGC) was formed, uniting genetic counselors (Scott, 1992). The goals of the NSGC included fostering the profession of genetic counseling through education, communication, and other relevant activities. Individuals with master's degrees became board eligible for certification as genetic counselors in 1980 when medical specialty boards were developed in the field of human genetics (Rollnick, 1984). The field continued to advance with the development of a professional code of ethics and the Journal of Genetic' Counseling in 1992 (Benkendorf et al., 1990).
Practice Variability in Prenatal Genetic Counseling
223
Genetic counseling as a field has definitely carved out its own professional niche. The expectations and goals of the counselor have been established, and training programs have set professional requirements (Scott, 1992). Have standards of care developed along with the evolution of the field? The goal of this study was to attempt to answer that question. The demographic makeup of the study's respondents was rather homogeneous, with the majority being female (93.7%), between the ages of 24-44 (93.7%), and having between 0-8 years of genetic counseling experience (64.5%). Three quarters had a primary focus of prenatal genetic counseling, and graduated from one of four graduate training programs. The majority worked in a University or Community Hospital (63.4%), reported seeing between 6-15 patients per week (58.3%), and had between 31-60 minutes scheduled per session (73.8%). The results of this study revealed that the respondents, although demographically very similiar, differed greatly in what they would include in the described prenatal genetic counseling session. It is clear that the content of prenatal genetic counseling sessions continues to vary significantly from counselor to counselor, even though the field and its providers are better defined. Marc Lappe's 1979 description of the field still applies, "The configuration of genetic counseling suggests that a profession may be as pleiomorphic in its manifestations and as heterogeneous in its origins as the most complex polygenic trait." Although the respondents varied on which issues they would include in the given prenatal genetic counseling session, their reasons for including/excluding issues were similar. Forty-five percent of the decision making overall was based on Patient Education/Informed Decision Making (34.5%) and Applicability (10.9%). The fact that respondents listed Patient Education/Informed Decision Making as the primary reason for response correlates with the NSGC Code of Ethics which states that, "Genetic counselors strive to enable their clients to make informed decisions, free of coercion, by providing or illuminating the necessary facts and clarifying the alternatives and anticipated consequences (Benkendorf et al., 1993)." It is the respondents' interpretation of which issues are important for informed consent, and which are applicable, that differ. Respondents' comments regarding the survey's opening scenario also illustrated this theme of varying interpretations and actions. The patient scenario simplistically described a 36 year old female who was 8 weeks pregnant, had a negative family history and wished to know her options for prenatal diagnosis. The scenario purposefully excluded information regarding the patient's religious and ethnic background, marital status, economic and educational background, and even which language she spoke. These factors
224
Matloff
were left undefined in an attempt to make respondents examine which issues they felt were so crucial to a session that they would always include them, regardless of these variables. Respondents agreed that these missing pieces of the puzzle could alter the scenario, but were divided on whether or not these factors would change the content of their sessions. One counselor wrote, "Much of my work is with 'underserved' clients who can only be given basics for Informed Consent without getting overwhelmed." Another counselor commented that she would not vary the actual content of the session, but would instead change her style. "{I don't} exclude any issues but simplify or generalize depending on education level or language barrier." Although many respondents commented that the unknown patient variables would alter the session, some clearly meant that the content would be altered, while others meant that the degree of detail would be altered. Burke and Kolker also studied the content of prenatal genetic counseling sessions in their paper, "Variation in Content in Prenatal Genetic Counseling Interviews" (Burke and Kolker, 1994). One hundred percent of their respondents indicated that they would include the procedural complication rates in an "ordinary prenatal diagnosis session for maternal age." Additionally, 91% (21/23) of respondents in centers offering both CVS and Amniocentesis and all (7/7) respondents in centers offering Amniocentesis only, would include age related Down syndrome and/or other risk rates in such a counseling session. Fifty-six percent of CVS Counselors, and 71% of Amnio Counselors would describe sex chromosome abnormalities in this session. Similarly, the data of the present study revealed that the vast majority of respondents would include the procedural risk of miscarriage (94.5% with CVS/100% with Amnio) in this maternal age session, q~ree quarters would also include the risk of maternal infection with both CVS and Amnio. Almost all (98.2%) would include maternal age related risks, while 69% would specifically discuss the possibility of sex chromosome aneuploidies (compared to 56% of the CVS counselors, and 71% of the Amnio counselors in the Burke and Kolker study). The remaining thirteen questions of the Burke and Kolker study did not correspond with the other 42 questions featured in the present study. Burke and Kolker focused several questions on the way procedures felt, and on descriptions of tests such as a sonogram. The present author's paper focused on very specific options, risks, and possible abnormal results. The differences between the two study focuses may be explained in part by the differing backgrounds of the authors: Burke and Kolker are based in sociology, while this author is based in genetic counseling. The findings of the Burke and Kolker study and of the present study are remarkably similar despite major differences in methodology. Perhaps the most significant difference between the studies is that the Burke-Kolker
Practice Variability in Prenatal Genetic Counseling
225
study separated the respondents into two categories: those whose Centers offered both CVS and Amniocentesis (CVS counselors), and those whose Centers offered only Amniocentesis (Amnio counselors). Perhaps it was assumed that Amnio counselors would only see patients who were too advanced in gestational age to have CVS. Or, perhaps it was assumed that a counselor is not responsible for discussing a procedure not offered at her Center. The data from the present study revealed that only 75% of respondents would verbally discuss the option of CVS with Mrs. A who is 8 weeks pregnant. Less than 50% would discuss the option of early amniocentesis with Mrs. A. Many respondents commented that CVS and/or early amnio are not offered at their Center and therefore they would not verbally discuss this option with this patient. What is our obligation to this patient? It is ironic that while Patient Education/Informed Decision Making was listed as the primary reason for response, as many as 50% of the respondents did not inform the patient of all of her possible options. Perhaps some would argue that the nearest facility offering these other tests was too far for the patient to travel. Or perhaps departmental policy regulates the discussion of tests not offered at that facility. These arguments are not based in the same logic found in the Code of Ethics which supports patient autonomy and informed independent decision making. Without all of the facts and available information, it is impossible for a client to make an informed decision. The Code of Ethics also states that a counselor should refer clients to other competent professionals when they are unable to provide her with appropriate services. Therefore, if a counselor cannot provide a client with all of the available information regarding prenatal diagnosis, or any other topic, it is her obligation to refer the client elsewhere. The Code also indicates that counselors should avoid the exploitation of the client for personal advantage, profit, or interest (Benkendorf et al., 1993). While it is unlikely that a counselor would personally benefit in any of these ways from withholding information about procedures not offered at their centers, it is possible that the center may benefit. Counselors at centers which do not "allow" them to discuss procedures for which patients would have to go elsewhere may be part of the process of "personal" (here meaning the center's) gain. Counselors may be part of this process against their will or unconsciously, but they are still part of the process. Genetic counselors have legal as well as ethical responsibilities. The duty of the genetic counselor includes complying with a standard of care which is generally applicable to similar practitioners. This study proves that that standard is not a clear cut one. A counselor is negligent when he or she breaches a legally recognized duty or obligation, and injury is caused
226
Matloff
by the breach of duty. Whether the failure of genetic counseling results from the counselor's inadequate knowledge base, negligent failure to disclose certain information, or conscious decision not to disclose information, liability will be based on damages (Rhodes, 1987). The most common basis for liability results when nondisclosure leads to the birth of a child with a genetic disorder or a birth defect, which could have been predicted by the exercise of reasonable care under the circumstances (Rhodes, 1987). This usually occurs when parents have not been given correct or adequate information regarding their genetic risks. Is it possible that a counselor would be liable for not providing information about a procedure? For example, the woman in this study's scenario is offered only amniocentesis. Perhaps she does not choose an amniocentesis because she would not have an abortion past the first trimester. She does not share this information with the counselor, but simply states she is not interested in an amnio. If she has a child with a chromosome abnormality that she would have aborted had she found out via CVS in the first trimester, is the counselor responsible for the nondisclosure? Rhodes (1987) states that if a birth of a child with impairments could have been avoided through information and counseling, the counselor is responsible. Capron (1979) states that the counselor is liable if the couple would have, by contraception, abortion, artificial insemination, or other means, have avoided the birth of an affected child had the counselor not breached his or her duty. At this time there are no guidelines for Quality Assurance in the field of Genetic Counseling. Although it is understood that every session is unique and that every patient is unique, there are certain issues that individual counselors include in every prenatal genetic counseling session. It is time for us, as a professional society, to carefully examine the content of our sessions and to decide if quality assurance provisions are needed, or if we are satisfied with the diversity in our profession. "Standards which will govern the field of genetic counseling will be based on the degree of uniformity of conduct that can be expected of practitioners. The courts may have a substantial role in setting these standards if the profession does not do it first (Rhodes, 1987)."
ACKNOWLEDGMENTS Original data for this study were collected as part of a masters degree thesis in genetic counseling at Northwestern University, Chicago, IL. Special thanks to Thelma McQuiston for preparing this manuscript, to Cate Church for her valuable insights, and to Maureen Smith, Terri Knutel, Karen Niedermeyer, Charlene Schulz, and David and Martha Matloft for their invaluable assistance and support.
Practice Variability in Prenatal Genetic Counseling
227
APPENDIX
Every genetic counseling session is obviously unique, yet counselors routinely discuss certain issues in every standard prenatal session. Assume a client, Mrs. A, is referred for counseling due to maternal age = 36. Family history is negative. She is currently 8 weeks pregnant and wishes to learn her options for prenatal diagnosis. Please carefully read choices 1-11 below: 1. Time allowed in session 2. Covered in videotape/slides/written information/consent form 3. New/current studies 4. Standard at my center/departmental policy 5. Legal liability 6. Personal experience/preference 7. Applicability 8. Patient education/informed decision making 9. Frequency of occurrence/recurrence 10. Consideration of patient well being 11. Graduate training **In the following questions, please circle yes/no after each issue; then, circle the one choice from 1-11 above which most accurately describes your decision to include/exclude the following issues in your prenatal session with Mrs. A: 1. At your center, does this patient standardly: a. See a videotape or slide presentation on prenatal diagnosis? Y N 1234567891011 b. Receive written information on prenatal diagnosis? Y N 1234567891011 c. Meet with a genetic counselor individually? Y N 1234567891011 d. Meet in a group with other patients and a genetic counselor? Y N 1234567891011 2. Which of the following issues do you always verbally discuss (as opposed to visual/written information) with this patient? a. Specific maternal age related risks Y N 1234567891011 b. Paternal age related risks Y N 1234567891011 c. Miscarriage rate in the general population Y N 1234567891011
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Practice Variability in Prenatal Genetic Counseling
* risk of maternal cell contamination p. with CVS Y N q. with amnio Y N . risk of cells failing to grow in the lab r. with CVS Y N s. with amnio Y N • possible risk of limb reduction defects t. with CVS Y N 5. Do you always specifically discuss a. translocations b. deletions/additions/insertions c. marker chromosomes d. mosaicism e. recombination/crossovers f. isodisomy/heterodisomy g. sex chromosome aneuploidies
the Y Y Y Y Y Y Y
229
1234567891011 1234567891011 1234567891011 1234567891011 1234567891011
possibilityo~ N 1234567891011 N 1 234567891011 N 1 234567891011 N t 234567891011 N 1 234567891011 N 1 234567891011 N 1 234567891011
Please complete the following information about yoursel~ 6. Are you male or female?
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F
7. Your age? 8. Please circle the number of years you have worked in the field: 3-5 >5-8 >8-10 >10-12 >12-14 >14 9. Please circle your current primary focus: a. prenatal b. pediatric c. adult d. specialty clinic, please specify e. other 10. Your current primary work setting: a. University b. Community hospital c. Private/commercial d. other 11. The genetic counseling training program where you received your degree:
230
Matloff
12. Approximately how many prenatal patients do you see per week? 0-5 6-10 11-15 16-20 21-25 >25 13. How much time is scheduled at your center for a standard prenatal patient? 0-30 minutes 31-60 minutes 61-90 minutes >90 minutes 14. In the space provided, please share any of your thoughts or experiences which have lead you to include/exclude specific information from your genetic counseling sessions.
REFERENCES Benkendorf JL, Callanan NP, Grobstein R, Schmerler S, FitzGerald KT (1992) An explication of the National Society of Genetic Counselors (NSGC) Code of Ethics. Y Genet Counsel 1(1):31-39. Blumenthal D, Heimler A, Edelman C, Engelberg J, Feldman BD, Sitron N (1990) A protocol for genetic counseling following abnormal prenatal diagnosis. Birth Defects: Orig Art Ser 26(3):157-160. Burke MB, Kolker A (1994) Variation in content in prenatal genetic counseling interviews. J Genet Counsel 3(1):23-38. Capron AM (1979) Autonomy, confidentiality and quality care in genetic counseling. Birth Defects: Orig Art Set" X V (2):307-340. Emery AEH (1975) Genetic counselling. Brit Med ar 3:219-221. Epstein CJ, Childs B, Fraser FC, MeKusick VA, Miller JR, Motulsky AG, Rivas M, Thompson MW, Shaw MW, Sly WS (1975) Report from the ad hoe Committee on Genetic Counseling. A m J Hum Genet 27:240-242. Fraser FC (1970) Counseling in genetics: Its intent and scope. Birth Defects: Orig Art Ser 6(1):7-12. Kelly PT (1977) Dealing with Dilemma: A Manual for Genetic Counselors. New York: Springer-Verlag. Kessler S (ed) (1979) Genetic Counseling: Psychological Dimensions. New York: Academic Press. Lappe M (1979) Genetic counseling in psychological and social perspective: Introduction. Birth Defects: Orig Art Ser XV(2):81-83. Lippman-Hand A, Fraser FC (1979) Genetic counseling: Provision and reception of information. A m Y Med Genet 3:113-127. Milunsky A (ed) (1992) Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment (3rd Ed). Maryland: The Johns Hopkins University Press. Murphy EA, Chase GA (1975) Principles of Genetic Counseling. Chicago: Year Book Medical Publisher. Rhodes A (1987) Legal issues in perinatal care. Birth Defects: Orig Art Ser 23(6):1-15. Rollnick B (1984) The National Society Of Genetic Counselors: an historical perspective. Birth Defects: Orig Art Ser 20(6):3-7. Rubin SP, Malin J, Maidman J (1983) Genetic counseling before prenatal diagnosis ~br advanced maternal age: An important medical safeguard. Obstet Gyneeol 62 (2) 155-159.
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Scott JA (1992) Introductory comments. J Genet Counsel 1(1):5-7. Stevenson AC, Davison BCC, Oakes MW (1976) Genetic Counseling (2nd Ed). Philadelphia: J.B. Lippincott Company. World Health Organization Expert Committee (1969) Genetic counselling. WHO Tech Rep 416:5-23.
