The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study.

Rini C1, Khan CM2, Moore E3, Roche MI4,5,6, Evans JP4,6,7, Berg JS4,6, Powell BC6, Corbie-Smith G7,8,9, Foreman AKM4,6, Griesemer I9, Lee K6, O'Daniel JM4,6, Henderson GE4,8.

Author information

Abstract

PurposeIn a diagnostic exome sequencing study (the North Carolina Clinical Genomic Evaluation by Next-Generation Exome Sequencing project, NCGENES), we investigated adult patients' intentions to request six categories of secondary findings (SFs) with low or no medical actionability and correlates of their intentions.MethodsAt enrollment, eligible participants (n = 152) completed measures assessing their sociodemographic, clinical, and literacy-related characteristics. Prior to and during an in-person diagnostic result disclosure visit, they received education about categories of SFs they could request. Immediately after receiving education at the visit, participants completed measures of intention to learn SFs, interest in each category, and anticipated regret for learning and not learning each category.ResultsSeventy-eight percent of participants intended to learn at least some SFs. Logistic regressions examined their intention to learn any or all of these findings (versus none) and interest in each of the six individual categories (yes/no). Results revealed little association between intentions and sociodemographic, clinical, or literacy-related factors. Across outcomes, participants who anticipated regret for learning SFs reported weaker intention to learn them (odds ratios (ORs) from 0.47 to 0.71), and participants who anticipated regret for not learning these findings reported stronger intention to learn them (OR 1.61-2.22).ConclusionIntentions to request SFs with low or no medical actionability may be strongly influenced by participants' desire to avoid regret.Genetics in Medicine advance online publication, 26 October 2017; doi:10.1038/gim.2017.176.