ELSIcon2024: The Ethics of “Traceback Testing”: Perspectives of First-Degree Relatives of Deceased Individuals on Privacy, Consent and Benefit.

ELSIcon2024 • Paper • June 11, 2024 

Authors:

Speaker: Mikaella I. Caruncho, MSW, MPH (she/her/hers) – Columbia University

Germline mutations in BRCA1/2</em> genes are significant risk factors for ovarian cancer, yet genetic testing among those with a family history of ovarian cancer remains low. Traceback testing, which involves genetic testing in patients with a prior diagnosis of ovarian cancer to determine if they have a pathogenic variant, is an approach to enable at-risk biological relatives to determine their own risk. In the case of deceased patients, traceback testing occurs through the testing of stored biospecimens collected during clinical care. However, families of the deceased are unlikely to know that these tissue samples exist or that they could be used to offer information for their health. Contacting families raises ethical issues of privacy and consent, yet how the at-risk relatives of the deceased consider these and the potential benefits from testing, is not well understood. This paper describes the implementation of a traceback testing approach in the Genetic Risk Analysis in Ovarian Cancer (GRACE) study, which leveraged tumor registries and electronic medical record data to identify patients with a diagnosis of ovarian cancer who had not undergone genetic testing. We conducted semi-structured interviews with at-risk first-degree relatives of the deceased and report participant 1) preferences on methods of contact for testing, counseling, and return of results; 2) perspectives on privacy and benefit of sharing risk information; and 3) attitudes towards consent and ethical obligations of institutions and healthcare providers. Our findings contribute to scarce research on how family members of deceased individuals feel about genetic testing.

At the bottom right corner of the video, you can click the “CC” button to display closed captions. You can also click the icon to the right of the “CC” button to display the transcript.