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The 5th ELSI Congress - ELSIcon2022

ELSIcon2022 Paper: Challenges in Providing Genetic Risk Information to At-Risk Relatives of Patients Who are Deceased: Experiences of the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study


ELSIcon2022 • Paper • May 31, 2022

Sandra Soo-Jin Lee, Jessica Martucci, Yolanda Prado, Tia Kauffman, Larissa White, Nora Henrikson, Heather Feigelson, Jessica Hunter

Current guidelines recommend genetic testing for all cases of ovarian cancer. Cancer risk variant detection can lead to identification of additional biological relatives who also carry the variant (i.e., cascade testing) which can facilitate timely intervention for early cancer detection and prevention. Individuals with a prior diagnosis of ovarian cancer who did not receive genetic testing represent missed opportunities to identify families with cancer risk variants. Germline genetic testing of archived surgical pathology specimens allows the opportunity to provide relatives with genetic risk information even when the individual is deceased. This approach raises ethical and legal questions about patient privacy vs. the benefit of providing relatives with genetic risk information. The Genetic Risk Assessment in Ovarian CancEr (GRACE) study is using a “traceback testing” approach to offer genetic testing to individuals with a prior diagnosis of ovarian cancer and their relatives. To date, uptake rates for genetic testing in ovarian cancer survivors (28%) and cascade testing among relatives (50%) indicates strong interest in receipt of genetic risk information and has led to identification of 8 families with cancer risk variants. One study aim is to explore the feasibility of providing genetic risk information to relatives of individuals who are deceased. In this effort, we have faced numerous legal and organizational challenges to contacting relatives. In this presentation, we will describe practical barriers to contacting and consenting at-risk family members through traceback testing and discuss the ethics of disclosing potentially life-saving information in the context of privacy restrictions.


Disclosure of genetic risk information to relatives
Genetic testing and screening

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