Barbara A. Bernhardt

Informed consent for enrolling minors in genetic susceptibility research: a qualitative study of at-risk children’s and parents’ views about children’s role in decision-making

PURPOSE To better understand the process by which families at increased risk of disease would decide to enroll their children in genetic susceptibility research in order to develop recommendations regarding the informed consent process by which at-risk children are enrolled in such research in the future [corrected]. METHODS Parents and children (ages 10-17 years) from families at increased risk for heart disease (n = 21 dyads) or breast cancer (n = 16 dyads) participated in two face-to-face, audio-taped, semi-structured interviews: Initial interviews were conducted with parents and children separately, and follow-up family interviews were conducted 1 year later. Interview transcripts were coded based on common themes. RESULTS Families vary in the stage at which, and degree to which, children would be involved in decision-making about research participation. In general, the older/more mature the child, the less risky the research and the more open the communication style, the greater the likelihood that decisions would be made jointly. Most children wanted some parental input, but still thought the final decision should be theirs. Most parents would want to make the initial decision about whether it would be reasonable to consider enrolling their child in the research being proposed, but none opposed the child having some time alone with the researcher. All parents and children in our study placed extreme importance on not forcing children to participate in nontherapeutic research if they do not want to. CONCLUSIONS Decision-making about enrolling children in genetic susceptibility research should be based on an informed consent process that (a) gives parents and children sufficient opportunity to ask questions of the researcher(s) and to communicate with one another, and (b) gives children the opportunity to exercise their right to refuse participation without parental influence. This process should be tailored to the childs maturity level and style of communication in the family.

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.

Mapping the human genome: an assessment of media coverage and public reaction.

Purpose: To assess public reactions to the June 26, 2000, announcement that scientists had nearly finished mapping the human genome.Methods: We conducted a random-digit telephone survey of 407 Maryland residents as well as a content analysis of 55 relevant media reports.Results: African Americans were more likely than Caucasians to report a negative reaction (P < 0.001) to the genome announcement. Overall, privacy/discrimination (16%) and human cloning (14%) were the most commonly mentioned concerns regarding the impact of the genome mapping.Conclusions: These findings highlight the need for continued public discourse, including through the media, to address concerns regarding the Human Genome Project.

“Decoding” Informed Consent: Insights from Women regarding Breast Cancer Susceptibility Testing

Cancer susceptibility testing is likely to become routine in medical practice, despite many limitations and unanswered questions. These uncertainties greatly complicate the process of informed consent, creating an excellent opportunity to reconsider exactly how it should be conducted. Research with womens reactions to the availability of genetic susceptibility testing for breast cancer dramatically underscores that informed consent ought to be highly individualized, taking care to discern what patients believe about the disease and its causes and what role they want their physician to play.

Toward a model informed consent process for BRCA1 testing: A qualitative assessment of women's attitudes

As an initial part of a project to develop a model informed consent process for BRCA1 testing, we conducted a series of focus groups. At the groups, women initially expressed great interest in testing, but their interest diminished after learning more. If offered testing, women would most want to learn about test accuracy, practical details of testing, and management options if the result was positive. Perceived benefits of testing included gaining information leading to risk reduction, relief of uncertainty, more responsible parenting, and assisting in research. Perceived risks included the discomfort and cost of the testing process itself, and anxiety after a positive result. The risk of possible insurance discrimination was rarely mentioned spontaneously. Many women would want their providers to make recommendations, rather than be nondirective about testing. We observed that women vary greatly in their informational and counseling needs, and suggest that the informed consent process should be individualized, taking into account a womans perception and her preferences for how testing decisions should be made.

How do Obstetric Providers Discuss Referrals for Prenatal Genetic Counseling

To investigate referrals of pregnant women to genetic counseling, we analysed transcripts from audiotaped first prenatal visits of 104 patients (72 actual patient visits and 32 simulated patient visits) with 32 providers (obstetricians and nurse-midwives). All patients had at least one indication for referral. Only 10% of visits with actual patients included a genetic counseling referral. When genetic counseling was discussed, it was only briefly described, primarily as an information session. This study shows that the majority of pregnant women with an indication for referral for genetic counseling are not referred. In addition, obstetric providers’ inadequate descriptions of prenatal genetic counseling may result in women being poorly prepared for genetic counseling sessions.

Physicians'Attitudes toward Disclosure of Genetic Information to Third Parties

onfidentiality is a cornerstone of the physicianpatient relationship. Breaches of confidentiality C in the context of genetic testing are of particular concern for a number of reasons.’ First, genetic testing reveals information not only about a particular patient, but also about his or her family members. Second,genetic testing can label healthy people as “at risk,” subjecting them to possible stigmatization or discrimination by third parties. Third, as genetic testing becomes more widespread and is incorporated into primary care, breaches of confidentiality might inadvertently occur more frequently because primary care providers may not be trained to understand the uniqueness of genetic information. Until now, genetic services have been provided primarily by medical geneticists and genetic counselors. However, with the proliferation of new genetic presymptomatic and carrier tests, primary care physicians are going to become increasingly involved in genetic testing2 Currently, little is known about physicians’ attitudes (other than those of medical geneticists3 ) toward disclosure of confidential genetic information to third parties.

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.

A survey of reimbursement for cystic fibrosis carrier testing

To assess the current status of reimbursement for cystic fibrosis (CF) carrier testing, we surveyed individuals tested in the Mid-Atlantic region. Results show that CF testing was covered by insurance in part or in full for greater than 50% of respondents. The test was nearly always covered when performed during pregnancy because of a positive family history, but it was also covered for more than 50% of pregnant respondents with a negative family history. There were no significant differences in coverage by type of insurance. Many respondents needed to supply additional information about the testing to their insurance company before a coverage decision could be made. Before population-based CF screening programs are initiated, more data are needed on insurance reimbursement for testing, especially when performed pre-conceptually.

Genetic Family Histories: An Aid to Social Work Assessment

The focus, depth, and use of genetic family histories vary depending on the agency purpose and the clients presenting problem. Failure to obtain genetic family histories can result in inaccurate assessment and incomplete or misdirected services. In the worst-case scenario, failure to obtain such information and to advise clients of available genetic services are potential grounds for malpractice and wrongful-adoption suits. The authors discuss approaches to obtaining and recording genetic family histories and present criteria for referral to genetic services. The authors recommend that agency administrators consider consulting with a genetic professional to determine the appropriate focus of genetic family histories within the agency, design a protocol, and arrange in-service training in use of the protocol.