Medical geneticists' duty to warn at‐risk relatives for genetic disease

AbstractA patient who refuses to notify their relatives of potential at‐risk status brings a genetics provider to face conflicting ethical principles and ill‐defined legal precedent. Genetics professionals' views on the disclosure of patient information to at‐risk relatives have remained largely unexamined. Prior analyses have been limited to identifying factors contributing to genetics providers' self‐predicted responses in hypothetical scenarios. Our group was the first to examine the clinical experience of genetic counselors with this issue [Dugan et al., 2003]. We report here results from our follow‐up survey of medical geneticists who are members of either the American Society of Human Genetics and/or American College of Medical Genetics in an effort to identify their experiences in warning at‐risk relatives and the factors driving their decision‐making processes. Over two‐thirds of medical geneticists surveyed (69%, 143/206) believe they do bear responsibility to warn their patients' relatives when found to be at‐risk for genetic disease. One‐quarter (25%, 31/123) of medical geneticists who faced the dilemma of a patient refusing to notify their at‐risk relatives seriously considered disclosure to those at‐risk relatives without patient consent. Only four respondents proceeded to warn at‐risk relatives of their status. Whereas genetic counselors cited emotional issues as playing a primary role in their decision not to warn, medical geneticists identified patient confidentiality, eventual case resolution by other means, and legal liability as the major factors leading to non‐disclosure in 76% of actual scenarios. Responsibilities of medical geneticists, genetic counselors, and non‐genetics healthcare professionals facing this issue will need to be more clearly defined to provide optimal medical care within the bounds of acceptable practice. © 2003 Wiley‐Liss, Inc.