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Genet Med. 2018 Sep;20(9):1069-1076. doi: 10.1038/gim.2017.223. Epub 2018 Jan 4.

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

Author information

1
Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, Michigan, USA. jscottr@umich.edu.
2
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
3
Division of Health Promotion & Behavioral Sciences, University of Texas Houston School of Public Health, Houston, Texas, USA.
4
Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, Michigan, USA.
5
Division of Genetics, Department of Medicine, Brigham and Women's, Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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

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