Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves

Abstract

PurposeProposals to return medically actionable secondary genetic findings (SFs) in the clinical and research settings have generated controversy regarding whether to solicit individuals’ preferences about their “right not to know” genetic information. This study contributes to the debate by surveying research participants who have actively decided whether to accept or refuse SFs.MethodsParticipants were drawn from a large NIH environmental health study. Participants who had accepted SFs (n=148) or refused SFs (n=83) were given more detailed information about the types of SFs researchers could return and were given an opportunity to revise their original decision.Results41/83 initial refusers (49.4%) opted to receive SFs following the informational intervention. Nearly 75% of these “reversible refusers” thought they had originally accepted SFs. The 50.6% of initial refusers who continued to refuse (“persistent refusers”) demonstrated high levels of understanding of which SFs would be returned post-intervention. The most prominent reason for refusing was concern about becoming worried or sad (43.8%).ConclusionThis study demonstrates the need for a more robust informed consent process when soliciting research participants’ preferences about receiving SFs. We also suggest that our data support implementing a default practice of returning SFs without actively soliciting preferences.