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

Genetics in Medicinevolume 20pages10691076 (2018) | Download Citation

Subjects

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.

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This work was supported by National Institutes of Health grants U01 HG006500, UM1 HG006508, and K01 HG009173.

Author information

Affiliations

  1. Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, Michigan, USA

    • J Scott Roberts PhD
    •  & Archana Bharadwaj MPH
  2. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA

    • Jill O Robinson MA
    • , Kaitlyn B Lee BA
    •  & Amy L McGuire PhD, JD
  3. Division of Health Promotion & Behavioral Sciences, University of Texas Houston School of Public Health, Houston, Texas, USA

    • Pamela M Diamond PhD
  4. Division of Genetics, Department of Medicine, Brigham and Women’s, Hospital and Harvard Medical School, Boston, Massachusetts, USA

    • Kurt D Christensen PhD
    •  & Robert C Green MD, MPH

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Consortia

  1. for the MedSeq Project team

    Disclosure

    R.C.G. receives compensation for speaking or consultation from AIA, GenePeeks, Helix, Ohana, Prudential and Veritas, and is cofounder of, adviser to, and equity holder in Genome Medical. The other authors declare no conflict of interest.

    Corresponding author

    Correspondence to J Scott Roberts PhD.

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    DOI

    https://doi.org/10.1038/gim.2017.223