Advances in psychiatric genomics have made it possible to generate polygenic risk scores (PRS)—sums of risk across many genomic loci—that can estimate an individual’s relative genetic risk for psychiatric conditions. If used to identify at-risk individuals, PRS could aid in mitigating the effects of mental illness (e.g., monitoring of symptoms for early diagnosis, which can decrease the duration of untreated disorders). However, the potential for genetic discrimination, exacerbating stigma, and the unknown impact of reporting PRS to patients at increased risk of psychiatric disorders have been cited as concerns with integrating PRS into psychiatric clinical care. Given the potential utility of PRS alongside these concerns, it is critical to assess interest in and perspectives toward the benefits, risks, and ethical implications of psychiatric PRS among relevant stakeholders, including patients. We conducted semi-structured interviews (n=29) with adult patients with diagnosed psychiatric disorders. In this presentation, we report on findings from interviews including participants’ potential interest in, and motivations for obtaining PRS for psychiatric conditions for themselves and their children, as well as deterrents to engaging with PRS testing. Patients discussed their views regarding the potential utility of PRS and raised concerns about the impacts of PRS and issues with access and disclosure of this information outside of the clinical setting. Finally, we will discuss how participants’ different interpretations of what a high or low PRS result may mean influence their views on utility, access and disclosure of results, and the impact of PRS results on the patient and their care.
Authors: Amanda Merner, Harvard Medical School Center for Bioethics; Page Trotter, Baylor College of Medicine Center for Medical Ethics and Health Policy; Lauren Ginn, Rice University; Abigail Celeste Martinez, Baylor College of Medicine; Ana Lucía Battaglino, Harvard Medical School Center for Bioethics; Takahiro Soda, University of Florida; Eric Storch, Baylor College of Medicine; Stacey Pereira, Baylor College of Medicine Center for Medical Ethics and Health Policy; Gabriel Lázaro-Muñoz, Harvard Medical School