Decisions about requesting secondary genomic findings: Intentions versus reality among patients undergoing diagnostic genomic sequencing

Abstract

Background: Next generation sequencing is increasingly used in clinical settings, prompting debate about returning secondary findings (SFs)—health-relevant information unrelated to the indication for sequencing. This study investigated intention to request SFs, actual requests, and their correlates among adult patients undergoing diagnostic genomic sequencing. Methods: 85 participants were randomly assigned to learn about six categories of non-medically actionable SFs after receiving their diagnostic results (versus participants receiving diagnostic results only). Next, they completed measures (intentions to request SFs, demographics, health literacy, numeracy, knowledge). Actual requests required a phone call and were tracked. Results: 78% of participants intended to request at least some SFs; only 35% actually requested them. Correlates of intentions (race/ethnicity, education, health literacy; ps<.05) differed from correlates of requests (race/ethnicity; p=.049). Compared to participants who did not request SFs, those who requested them perceived higher benefits (p=.02) and lower risks (p=.01) for learning their SFs. Discussion: This study design differentiated intentions and requests for SFs among patients undergoing diagnostic genomic sequencing and identified correlates of requests. Findings can help guide best practices for returning SFs in clinical settings.