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

Abstract

Purpose

In a diagnostic exome sequencing study (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.

Methods

At 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.

Results

78% of participants intended to learn at least some SFs. Logistic regressions examined their intention to learn any or all of these findings (vs. 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 [OR] from .47–.71), and participants who anticipated regret for not learning these findings reported stronger intention to learn them (ORs 1.61–2.22).

Conclusion

Intentions to request SFs with low or no medical actionability may be strongly influenced by participants’ desire to avoid regret.