Participant Use and Communication of Findings from Exome Sequencing: a Mixed-methods Study

Overview

Journal Genet Med

Publisher Elsevier

Specialty Genetics

Date 2015 Nov 6

PMID 26540156

Citations 37

Authors

Katie L Lewis

Gillian W Hooker

Philip D Connors

Travis C Hyams

Martha F Wright

Samantha Caldwell

Leslie G Biesecker

Barbara B Biesecker

Affiliations

Soon will be listed here.

Abstract

Purpose: This study investigated how genome sequencing results affect health behaviors, affect, and communication.

Methods: We report on 29 participants who received a sequence result in the ClinSeq study, a cohort of well-educated, postreproductive volunteers. A mixed-methods design was used to explore respondents' use, communication, and perceived utility of results.

Results: Most participants (72%) shared their result with at least one health-care provider, and 31% reported subsequent changes in the health care they received. Participants scored high on the Positive Experiences subscale and low on the Distress subscale of a modified version of the Multidimensional Impact of Cancer Risk Assessment. The majority (93%) shared their result with at least one family member. Participants described deriving personal utility from their results.

Conclusion: This article is the first to describe research participants' reactions to actionable sequencing results. Our findings suggest clinical and personal benefit from receiving sequencing results, both of which may contribute to improved health for the recipients. Given the participants' largely positive or neutral affective responses and disclosure of their results to physicians and relatives, health-care providers should redirect concern from the potential for distress and attend to motivating patients to follow their medical recommendations.Genet Med 18 6, 577-583.

Citing Articles

Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.

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How Clinicians Conceptualize "Actionability" in Genomic Screening.

Owens K, Sankar P, Asfaha D J Pers Med. 2023; 13(2).

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Return of individual research results from genomic research: A systematic review of stakeholder perspectives.

Vears D, Minion J, Roberts S, Cummings J, Machirori M, Blell M PLoS One. 2021; 16(11):e0258646.

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A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.

Sapp J, Facio F, Cooper D, Lewis K, Modlin E, van der Wees P Genet Med. 2021; 23(12):2260-2269.

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Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients.

Christensen K, Schonman E, Robinson J, Roberts J, Diamond P, Lee K NPJ Genom Med. 2021; 6(1):72.

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