Disclosure of familial genetic information: Perceptions of the duty to inform

BACKGROUND: The familial implications of genetic information can lead to a conflict between a physician's duties to maintain patient confidentiality a nd to inform at-risk relatives about susceptibility to genetic diseases. As genes are discovered that can identify patients at risk of adverse outcome s, this conflict has become the subject of discussion and debate. METHODS: We performed a one-time telephone survey of a population-based sam ple of 200 Jewish women to assess knowledge and attitudes about genetic tes ting. Attitudes toward sharing genetic test results with family members wer e evaluated using three hypothetical scenarios that described an easily pre ventable disease, a disease (breast cancer) in which the only option for pr evention was prophylactic mastectomies, and a nonpreventable disease. RESULTS: Nearly all respondents believed that a patient should inform at-ri sk family members when the disease was preventable (100% and 97% in the rel evant scenarios), compared with only 85% who felt a duty to inform at-risk family members about a nonpreventable disease (P <0.001). The proportions o f respondents who believed that physicians should seek out and inform at-ri sk family members against a patient's wishes was much lower: only 18% of re spondents to the easily preventable disease scenario, 22% of respondents to the breast cancer scenario, and 16% of respondents to the nonpreventable d isease scenario. CONCLUSIONS: Most women surveyed believed that genetic information should b e shared within families, unless it violated a patient's wishes. These sort s of opinions should be considered in the debate over the confidentiality o f genetic information. Am J Med. 2000;109:705-711. (C) 2000 by Excerpta Med ica, Inc.