Public attitudes towards disclosure of genetic risk in the family: A survey in a sample of the Portuguese general population

Abstract

Genetic and genomic testing often have implications not only for the individual tested but also for their genetic relatives. This study aims to characterize public attitudes toward the familial disclosure of genetic risks. An online survey was completed by a sample of the Portuguese general population (n = 1034), assessing preferences for genetic testing, the receipt of genetic risk information, and the sharing of such information with family members. Results reveal a strong preference among respondents for receiving information on genetic risks and undergoing genetic testing. There was also ample agreement that family members should be informed about the risk of developing an inherited condition and undergo genetic testing. Additionally, participants expressed a preference for healthcare professionals to inform both themselves and their family members of genetic risks. Our findings suggest broad acceptance of the possibility for healthcare-mediated disclosure of genetic risks to family members. However, this approach to disclosure warrants further investigation, as direct contact with patients' relatives remains a contentious issue. A broad discussion is needed on how to best cascade relevant genetic information to patients' family members, taking into account the perspectives of all key stakeholders.