Attitudes toward an unsolicited approach in relation to status of genetic disease: Exemplified by alpha(1)-antitrypsin deficiency

Knowledge of a genetic disease in an individual raises the questions of whe ther and how this information should be communicated to his or her family, The aim of the present study was to provide factual information about attit udes towards an unsolicited approach from a physician regarding genetic cou nseling within affected families, We performed a questionnaire study among patients with alpha(1)-antitrypsin deficiency, their examined and unexamine d relatives, and a control group of Danish citizens. Of 2,146 subjects, the questionnaires were returned by 1,761 (82%), and 1,609 (75%) wanted to par ticipate. Stepwise logistic regression showed that phenotype/subgroup, havi ng descendants, and being female were significantly related to the approval of an unsolicited approach and the informing of relatives, Provided it was difficult for the index case to inform relatives about their risk and abou t his/her disease, then a total of 75.8% would not proscribe an unsolicited approach by the physician, Most of those for proscribing an unsolicited ap proach found that relatives should be informed in advance by the index case . The control group of randomly chosen Danes was the most skeptical towards an unsolicited approach. Most individuals found that genetic risk informat ion should be shared with relatives at-risk, A flexible information policy by the health care system based on active approach towards relatives is acc eptable to 75 to 95% of individuals in order to ensure diffusion of genetic risk information within families segregating for a genetic disease with a modifiable outcome. (C) 2000 Wiley-Liss, Inc.