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Participant use and communication of findings from exome sequencing: a mixed-methods study.

Authors :
Lewis KL
Hooker GW
Connors PD
Hyams TC
Wright MF
Caldwell S
Biesecker LG
Biesecker BB
Source :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Jun; Vol. 18 (6), pp. 577-83. Date of Electronic Publication: 2015 Nov 05.
Publication Year :
2016

Abstract

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

Details

Language :
English
ISSN :
1530-0366
Volume :
18
Issue :
6
Database :
MEDLINE
Journal :
Genetics in medicine : official journal of the American College of Medical Genetics
Publication Type :
Academic Journal
Accession number :
26540156
Full Text :
https://doi.org/10.1038/gim.2015.133