Clinical study
Disclosure of familial genetic information: perceptions of the duty to inform

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Abstract

BACKGROUND: The familial implications of genetic information can lead to a conflict between a physician’s duties to maintain patient confidentiality and to inform at-risk relatives about susceptibility to genetic diseases. As genes are discovered that can identify patients at risk of adverse outcomes, this conflict has become the subject of discussion and debate.

METHODS: We performed a one-time telephone survey of a population-based sample of 200 Jewish women to assess knowledge and attitudes about genetic testing. Attitudes toward sharing genetic test results with family members were evaluated using three hypothetical scenarios that described an easily preventable disease, a disease (breast cancer) in which the only option for prevention was prophylactic mastectomies, and a nonpreventable disease.

RESULTS: Nearly all respondents believed that a patient should inform at-risk family members when the disease was preventable (100% and 97% in the relevant scenarios), compared with only 85% who felt a duty to inform at-risk family members about a nonpreventable disease (P <0.001). The proportions of respondents who believed that physicians should seek out and inform at-risk family members against a patient’s wishes was much lower: only 18% of respondents to the easily preventable disease scenario, 22% of respondents to the breast cancer scenario, and 16% of respondents to the nonpreventable disease scenario.

CONCLUSIONS: Most women surveyed believed that genetic information should be shared within families, unless it violated a patient’s wishes. These sorts of opinions should be considered in the debate over the confidentiality of genetic information.

Section snippets

Sample

This is part of a project that is assessing interest in testing for breast cancer susceptibility genes BRCA1 and BRCA2 (BRCA1/2) and concerns about genetic discrimination among Jewish women, who were selected because they have an increased frequency of BRCA1/2 mutations 26, 27, 28. The sample for this study was a subset of respondents to a 1995 demographic survey of 1,200 Jewish families in the Boston metropolitan area (29) that consisted of a random sample drawn from a list of likely Jewish

Results

The mean (± SD) age of the respondents was 46 ± 11 years and the mean BRCA1/2 knowledge score (on a scale of 0 to 7) was 4.0 ± 1.4 (Table 1). Seventy-five percent of women had graduated from college. Approximately two thirds of the sample were married and had children, and about one quarter had a history of amniocentesis.

Discussion

We found that women’s attitudes toward disclosure of genetic information to family members differed depending on whether the disease was preventable. A greater proportion of women believed that they should share genetic information with family when the disease was preventable than when it was not. The majority of women in this survey, however, did not believe that physicians should seek out and inform at-risk family members against a patient’s wishes. This result remained stable whether the

Acknowledgements

We would like to thank Daniel Singer, MD, Philip Reilly, MD, JD, and Ellen Clayton, MD, JD, for their thoughtful comments on this manuscript.

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    Supported by a National Research Service Award training grant (Dr. Lehmann) and a grant from the Woman’s Cancer Program at the Dana-Farber Cancer Institute.

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