Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings

Genet Med. 2019 May;21(5):1092-1099. doi: 10.1038/s41436-018-0294-z. Epub 2018 Sep 21.

Abstract

Purpose: Genomic sequencing can reveal variants with limited to no medical actionability. Previous research has assessed individuals' intentions to learn this information, but few report the decisions they made and why.

Methods: The North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing (NCGENES) project evaluated adult patients randomized to learn up to six types of non-medically actionable secondary findings (NMASF). We previously found that most participants intended to request NMASF and intentions were strongly predicted by anticipated regret. Here we examine discrepancies between intentions and decisions to request NMASF, hypothesizing that anticipated regret would predict requests but that this association would be mediated by participants' intentions.

Results: Of the 76% who expressed intentions to learn results, only 42% made one or more requests. Overall, only 32% of the 155 eligible participants requested NMASF. Analyses support a plausible causal link between anticipated regret, intentions, and requests.

Conclusions: The discordance between participants' expressed intentions and their actions provides insight into factors that influence patients' preferences for genomic information that has little to no actionability. These findings have implications for the timing and methods of eliciting preferences for NMASF and suggest that decisions to learn this information have cognitive and emotional components.

Keywords: anticipated regret; informed consent; non-medically actionable secondary findings; research genomic sequencing.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Decision Making / ethics
  • Emotions
  • Exome
  • Female
  • Genetic Testing / ethics
  • Genomics / methods
  • Health Knowledge, Attitudes, Practice
  • Health Personnel
  • High-Throughput Nucleotide Sequencing / ethics
  • Humans
  • Incidental Findings*
  • Intention
  • Male
  • Middle Aged
  • Patient Preference / psychology*
  • Patients
  • Whole Genome Sequencing / ethics*
  • Whole Genome Sequencing / methods