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AJOB Empir Bioeth. 2017 Apr-Jun;8(2):82-88. doi: 10.1080/23294515.2017.1287786. Epub 2017 Jan 27.

When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing.

Author information

1
a Center for Medical Ethics and Health Policy, Baylor College of Medicine, and Johns Hopkins Berman Institute of Bioethics , Johns Hopkins University.
2
b Center for Medical Ethics and Health Policy , Baylor College of Medicine.
3
c Department of Medicine , Brigham and Women's Hospital.
4
d School of Public Health and Health Sciences , University of Massachusetts.
5
e Division of Genetics, Department of Medicine , Brigham and Women's Hospital.
6
f Division of General Medicine and Primary Care , Brigham and Women's Hospital, Section of General Internal Medicine, VA Boston Healthcare System, and Harvard Medical School.
7
g Division of Genetics, Department of Medicine , Brigham and Women's Hospital, and Harvard Medical School.

Abstract

BACKGROUND:

Clinical genome and exome sequencing (CGES) is being used in an expanding range of clinical settings. Most approaches to offering patients choices about learning CGES results classify results according to expert definitions of clinical actionability. Little is known about how patients conceptualize different categories of CGES results.

METHODS:

The MedSeq Project is a randomized controlled trial studying the use of whole-genome sequencing (WGS) in primary care and cardiology. We surveyed 202 patient-participants about different kinds of WGS results and conducted qualitative interviews with 49 of these participants. Interview data were analyzed both inductively and deductively using thematic content analysis.

RESULTS:

Participants demonstrated high levels of study understanding and genetic literacy. A small majority of participants wanted to learn all of their WGS results (n = 123, 61%). Qualitative data provided a deeper understanding of participants' perspectives about different types of WGS results. Participants did not have the same views about which WGS results would be actionable or upsetting to learn. They conceptualized variants of uncertain significance (VUS) in a variety of different ways. Many participants expressed optimism that the uncertainty associated with VUS results could be reduced over time.

CONCLUSIONS:

Proposals to determine which WGS/CGES results to disclose by soliciting patient preferences may fail to appreciate the complex ways patients think about disease and the information WGS/CGES can produce. Our findings challenge prevailing methods of facilitating patient choice and assessing the benefits and harms related to the return of WGS/CGES results, which mostly rely on expert definitions of clinical utility to categorize the kinds of results patients can learn.

KEYWORDS:

bioethics; empirical research; interview; mixed-methods research; qualitative research; survey

PMID:
28949844
DOI:
10.1080/23294515.2017.1287786
[Indexed for MEDLINE]

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