Teresa Doksum

Prenatal Genetic Testing: Content of Discussions Between Obstetric Providers and Pregnant Women

Objective To document the content and accuracy of discussions about prenatal genetic testing between obstetric providers and pregnant women. Methods The first prenatal visits of 169 pregnant women with 21 obstetricians and 19 certified nurse-midwives were audiotaped and analyzed for whether a discussion of family history or genetic testing took place and if so, its length, content, and accuracy. Results Family history was discussed in 60% of visits, maternal serum marker screening in 60%, second-trimester ultrasonography for fetal anomalies in 34%, and for women at least 35 years old, amniocentesis or chorionic villus sampling (CVS) in 98%. The length of discussions of genetic testing averaged 2.5 minutes for women younger than 35 years of age and 6.9 minutes for older women. Topics discussed most often were the practical details of testing, the purpose of testing, and the fact that testing is voluntary. Discussions seldom were comprehensive. Obstetricians were more likely to make a recommendation about testing than were nurse-midwives and were less likely to indicate that testing is voluntary. Most women were satisfied with the amount of information, and the majority of women of advanced maternal age had made a decision about amniocentesis or CVS by the end of the visit. Conclusion The information about genetic testing provided in the first prenatal visit is inadequate for ensuring informed autonomous decision-making. Guidelines addressing the content of these discussions should be developed with input from obstetricians, nurse-midwives, genetic counselors, and pregnant women.

Does knowledge about the genetics of breast cancer differ between nongeneticist physicians who do or do not discuss or order BRCA testing

Purpose: To assess nongeneticist physicians’ knowledge and experience with BRCA1/2 testing.Methods: In 1998, 2250 internists, obstetrician-gynecologists (Ob-Gyns), and oncologists practicing in Pennsylvania, Maryland, Massachusetts, New York, or New Jersey were surveyed.Results: Forty percent responded. Only 13% of internists, 21% of Ob-Gyns, and 40% of oncologists correctly answered all four knowledge questions about genetic aspects of breast cancer and testing for it. Knowledge was associated with discussing or ordering only among oncologists.Conclusion: Despite deficiencies in their knowledge about the genetic aspects of breast cancer, many nongeneticist physicians have discussed testing and some have ordered testing.

Are Practicing and Future Physicians Prepared to Obtain Informed Consent? The Case of Genetic Testing forSusceptibility to Breast Cancer

Objective: To assess practicing and future physicians’ preparedness to obtain informed consent for cancer susceptibility testing. Methods: Questionnaires were mailed to 601 Maryland physicians and 513 first- and fourth-year medical students. Results: Two thirds of students, but only 56% of physicians considered it very important to obtain informed consent for BRCA1 testing (p < 0.05). Forty-six percent of fourth-year students, but only 26% of first-year students and 30% of physicians could calculate the positive predictive value of a BRCA1 test (p < 0.001). A minority of respondents would offer testing for inappropriate indications. Conclusion: Failure to consider informed consent important, to understand the uncertainty of predictive test results, and to recognize when testing is inappropriate are barriers to informed consent. Although current medical training may be reducing some barriers, increased attention to these topics in medical school curricula is suggested.

Genetic services for common complex disorders: Surveys of health maintenance organizations and academic genetic centers

Purpose: To learn the extent to which HMOs and academic genetic centers (1) are involved in predictive genetic tests for common, complex disorders and (2) interact with each other.Methods: Surveys of HMO medical directors and directors of U.S. academic genetic centers.Results: In 1996, approximately 28% of HMOs were covering predictive tests for breast and colon cancer, but 75% of all medical directors said their HMO would consider policies regarding predictive testing in the next 5 years. Approximately 80% of directors of academic genetic centers said they provided genetic counseling services for common adult-onset disorders for patients covered by managed care organizations (MCOs), but they ranked the volume of services they provide for pediatric and prenatal indications much higher. Most academic genetic centers (72%) have contracts with MCOs.Conclusion: Although genetic services are being provided by academic genetic centers to patients who are members of managed care organizations, many patients with whom genetic testing for adult onset disorders is discussed may never see a geneticist. Academic genetic centers should educate nongeneticist professionals about the use of tests for common disorders.

Carrier Screening for Cystic Fibrosis among Maryland Obstetricians before and after the 1997 NIH Consensus Conference

The 1997 National Institutes of Health (NIH) Consensus Conference on Cystic Fibrosis (CF) testing recommended that carrier screening be offered to all pregnant women and couples planning a pregnancy. We surveyed 492 Maryland Ob-Gyns before and after the consensus conference to: (1) assess whether obstetricians changed their practice regarding CF carrier testing, and (2) identify the factors associated with changing practice patterns, including awareness of the statement, and knowledge about CF. Fifty-six percent (275) responded to the first mail questionnaire and 107 obstetricians responded to both questionnaires. In 1998, only 18% of respondents to the second questionnaire were familiar with the NIH statement, but 43% reported discussing testing with patients with no family history, a significant increase from 1997, when only 20% reported discussing testing. Less than one-third correctly answered six multiple-choice knowledge questions about CF and carrier testing. In multivariate analysis, knowledge and familiarity with the NIH consensus statement were not associated with beginning to discuss CF carrier testing after the CF conference with their patients without a family history.

Should Women at Increased Risk for Breast and Ovarian Cancer Be Randomized to Prophylactic Surgery? An Ethical and Empirical Assessment

More information is needed about the relative effectiveness of prophylactic surgery, chemoprevention, and surveillance in reducing breast and ovarian cancer risk in women with an inherited susceptibility mutation. We assessed practical and ethical barriers to conducting randomized clinical trials (RCTs) to compare preventive interventions for breast and ovarian cancer. Eighty-seven at-risk women who attended an education and counseling session about BRCA1/2 testing were asked about their willingness to participate in hypothetical research studies for breast and ovarian cancer risk reduction. In addition, 247 Maryland physicians from five specialties completed a mail survey including a question about their likelihood of recommending RCT participation to an at-risk woman. Nineteen percent of at-risk women reported willingness to participate in a hypothetical RCT for breast cancer risk reduction and 17% for ovarian cancer risk reduction. Women with children and women likely to have a prophylactic mastectomy if found to have a susceptibility mutation were significantly more willing to participate in an RCT. A majority of women would be willing to participate in nonrandomized trials or registries. Fifty-two percent of physicians responded that they would be likely to recommend RCT participation to a woman carrying a breast cancer susceptibility mutation. Oncologists were the most likely to recommend an RCT. Although the results of nonrandomized trials may be difficult to interpret because of such issues as selection bias. Greater feasibility combined with fewer ethical concerns make nonrandomized trials a more viable alternative to randomized trials for evaluation of preventive interventions for breast and ovarian cancer when prophylactic surgery is one of the treatments being evaluated.

Contents Vol. 1, 1998

93 Translating Advances in Human Genetics into Disease Prevention and Health Promotion. First Annual Conference on Genetics and Public Health, Atlanta, Ga., May 13–15, 1998 Khoury, M.J. (Atlanta, Ga.); Puryear, M. (Rockville, Md.); Thomson, E. (Bethesda, Md.); Bryan, J. (Washington, D.C.) 109 Book Review No. 1