Transmitting genetic risk information in families: attitudes about disclosing the identity of relatives.

摘要: Summary Attitudes about disclosing the identities of family members to a physician ensure diffusion genetic risk information within affected families were examined in questionnaire study Danish patients with α 1 -antitrypsin deficiency (A1AD), their relatives, and control group citizens. The questionnaires returned by 1,761 (82%) 2,146 recipients; 1,609 (75%) agreed participate completed questionnaire. Only 2.8% objected identity children, 9.1% parents, 6.7% siblings. When tests are offered sister, 75.4% screened individuals severe A1AD (phenotype "piZ") 66.8% piZ probands thought that should say who is ill. Important reasons for informing sister at were, 58%, opportunity prevent disease and, 41% piZ-probands, maintain openness avoid uncertainty. Stepwise logistic regression background variables showed relatives those whom most respondents approved disclosure parents' siblings' enable examine them presence A1AD. Women less prone disclose results indicate counselor inquire relatives' identities, they properly informed known disorder, such as A1AD, which disability can be prevented change lifestyle or careful management. Disease prevention essential, but avoidance uncertainty also important. Our findings imply fully all disorder actually ill principal rule.