Research participants’ retrospective outlooks on refusing medically actionable secondary genetic findings

Benjamin Berkman – Bioethics – National Institutes of Health; Chloe Connor – Bioethics – National Institutes of Health; Will Schupmann – Sociology – UCLA; Skye Miner – RAND

Abstract: Since the introduction of genomic sequencing into biomedical research, questions about researchers’ obligations regarding medically actionable secondary findings (SFs) have remained controversial. Proponents of the “right not to know” one’s genetic information posit that participants should be given the explicit choice to reject learning genetic information about themselves, leading to debate over whether and how researchers should determine participant preferences about receiving potentially life-saving information. In a prior study, we surveyed research participants who initially chose not to receive SFs. In that survey, which included an informational intervention and opportunity to change one's decision about receiving SFs, we found that participants who refused SFs fell into two groups: “reversible refusers” (49.4%) who opted to receive SFs post-intervention, and “persistent refusers” (50.6%) who continued to refuse return of SFs post-intervention. Nearly 75% of reversible refusers incorrectly reported they had originally opted to receive SFs, while persistent refusers were more likely to remember their initial choice; persistent refusers also demonstrated greater understanding of which SFs may be returned. In this follow-up qualitative interview study, we ask both reversible and persistent refusers about their experiences with this decision-making process. In particular, we examine benefits and concerns about receiving SFs, attitudes toward genetic testing and science, and reactions to specific medical conditions being shared as SFs. Our goal is to gain a deeper, more nuanced understanding of these primary stakeholders' perspectives to better inform policy decisions about disclosing medically actionable genetic information and operationalizing informed consent.

Keywords: Genetics, Right not to know, Informed consent