Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results

Robyn Hylind*, Maureen Smith, Laura Rasmussen-Torvik, Sharon Aufox

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

The management of secondary findings is a challenge to health-care providers relaying clinical genomic-sequencing results to patients. Understanding patients’ expectations from non-diagnostic genomic sequencing could help guide this management. This study interviewed 14 individuals enrolled in the eMERGE (Electronic Medical Records and Genomics) study. Participants in eMERGE consent to undergo non-diagnostic genomic sequencing, receive results, and have results returned to their physicians. The interviews assessed expectations and intended use of results. The majority of interviewees were male (64%) and 43% identified as non-Caucasian. A unique theme identified was that many participants expressed uncertainty about the type of diseases they expected to receive results on, what results they wanted to learn about, and how they intended to use results. Participant uncertainty highlights the complex nature of deciding to undergo genomic testing and a deficiency in genomic knowledge. These results could help improve how genomic sequencing and secondary findings are discussed with patients.

Original languageEnglish (US)
Pages (from-to)19-26
Number of pages8
JournalJournal of Community Genetics
Volume9
Issue number1
DOIs
StatePublished - Jan 1 2018

Keywords

  • Genetic counseling
  • Genomic sequencing
  • Patient perspectives
  • Perceived utility
  • Precision medicine

ASJC Scopus subject areas

  • Epidemiology
  • Public Health, Environmental and Occupational Health
  • Genetics(clinical)

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