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

Am J Med. 2000 Dec 15;109(9):705-11. doi: 10.1016/s0002-9343(00)00594-5.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Boston
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / prevention & control*
  • Confidentiality*
  • Ethics, Medical*
  • Female
  • Genes, BRCA1
  • Genes, Tumor Suppressor
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Health Knowledge, Attitudes, Practice
  • Humans
  • Jews / genetics*
  • Mastectomy*
  • Middle Aged
  • Population Surveillance*
  • Risk
  • Truth Disclosure*
  • United States