Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project

J Scott Roberts, Jill O Robinson, Pamela M Diamond, Archana Bharadwaj, Kurt D Christensen, Kaitlyn B Lee, Robert C Green, Amy L McGuire, MedSeq Project team, J Scott Roberts, Jill O Robinson, Pamela M Diamond, Archana Bharadwaj, Kurt D Christensen, Kaitlyn B Lee, Robert C Green, Amy L McGuire, MedSeq Project team

Abstract

Purpose: To examine patients' experiences with clinical use of whole-genome sequencing (WGS).

Methods: A randomized trial compared primary care and cardiology patients receiving WGS and family health history (FH) information or FH information alone. 202 patients were surveyed before (BL) and up to 6 months after disclosure of results (6M).

Results: Patients (mean age = 55 years; 50% female; 81% college graduates) reported low levels of decisional regret (mean: 7.1/100) and high satisfaction with physicians' disclosure of results (median: 29/30). Compared with the FH-only arm, patients receiving WGS results were more likely to report learning accurate disease risk information (odds ratio = 7.45) and findings influential for medical treatment (odds ratio = 2.39). Sessions where WGS results were disclosed took longer (30 vs. 15 minutes), particularly for primary care patients. Patients' expected utility of sequencing at BL was higher than perceived utility at 6M in several domains, including impacting medical decision making (87% vs. 54%) and influencing medication choice (73% vs. 32%).

Conclusion: Patients were satisfied with their physicians' communication of WGS results and perceived them as medically useful. Discrepancies in expected versus perceived utility of WGS results suggest a need to temper patients' expectations about its potential benefits.

Keywords: cardiology; informed consent; patient education; patient satisfaction; primary care.

Conflict of interest statement

CONFLICT OF INTEREST DISCLOSURES

Dr. Green receives compensation for speaking or consultation from AIA, GenePeeks, Helix, Ohana, Prudential and Veritas, and is co-founder, advisor, and equity holder in Genome Medical, Inc. The other authors have no conflicts of interest to disclose.

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