RTI uses cookies to offer you the best experience online. By clicking “accept” on this website, you opt in and you agree to the use of cookies. If you would like to know more about how RTI uses cookies and how to manage them please view our Privacy Policy here. You can “opt out” or change your mind by visiting: http://optout.aboutads.info/. Click “accept” to agree.
Should health systems share genetic findings with at-risk relatives when the proband is deceased?
Interviews with individuals diagnosed with Lynch syndrome
Hunter, J. E., Schneider, J. L., Firemark, A. J., Davis, J. V., Gille, S., Pawloski, P. A., Liang, S.-Y., Schlieder, V., & Rahm, A. K. (2022). Should health systems share genetic findings with at-risk relatives when the proband is deceased? Interviews with individuals diagnosed with Lynch syndrome. Journal of patient-centered research and reviews, 9(4), 282-289. https://doi.org/10.17294/2330-0698.1945
Purpose: Genetic information has health implications for patients and their biological relatives. Death of a patient before sharing a genetic diagnosis with at-risk relatives is a missed opportunity to provide important information that could guide interventions to minimize cancer-related morbidity and mortality in relatives.
Methods: We performed semi-structured interviews with individuals diagnosed with Lynch syndrome at 1 of 4 health systems to explore their perspectives on whether health systems should share genetic risk information with relatives following a patient's death. An inductive, open-coding approach was used to analyze audio-recorded content, with software-generated code reports undergoing iterative comparative analysis by a qualitative research team to identify broad themes and representative participant quotes.
Results: Among 23 participating interviewees, 19 supported health systems informing relatives about their Lynch syndrome risk while the remaining 4 were conflicted about patient privacy. Most (n=22) wanted their Lynch syndrome diagnosis shared with relatives if they were unable to share and to be informed of their own risk if a diagnosed relative was unable to share. The most common issues noted regarding information-sharing with relatives included patient privacy and privacy laws (n=8), potential anxiety (n=5), and lack of contact information for relatives (n=3). Interviewee perspectives on how health systems could communicate genetic findings generated a consensus: When - a few months after but within a year of the patient's death; How - explanatory letter and follow-up phone call; and Who - a knowledgeable professional.
Conclusions: Interviews demonstrated strong and consistent perspectives from individuals diagnosed with Lynch syndrome that health systems have a role and responsibility to inform relatives of genetic findings following a patient's death.
