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Healthcare 2018, 6(3), 96; https://doi.org/10.3390/healthcare6030096

What People Want to Know About Their Genes: A Critical Review of the Literature on Large-Scale Genome Sequencing Studies

1
Center for Communication and Health, Department of Communication Studies, Northwestern University, 710 North Lake Shore Drive, 15th Floor, Chicago, IL 60611; USA
2
Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, 645 N Michigan Ave, Suite 630, Chicago, IL 60611, USA
*
Author to whom correspondence should be addressed.
Received: 13 June 2018 / Revised: 28 July 2018 / Accepted: 30 July 2018 / Published: 8 August 2018
(This article belongs to the Special Issue Precision Public Health and Genomic Medicine)
Full-Text   |   PDF [218 KB, uploaded 8 August 2018]

Abstract

From a public health perspective, the “All of Us” study provides an opportunity to isolate targeted and cost-effective prevention and early-detection strategies. Identifying motivations for participation in large-scale genomic sequencing (LSGS) studies, and motivations and preferences to receive results will help determine effective strategies for “All of Us” study implementation. This paper offers a critical review of the literature regarding LSGS for adult onset hereditary conditions where results could indicate an increased risk to develop disease. The purpose of this review is to synthesize studies which explored peoples’ motivations for participating in LSGS studies, and their desire to receive different types of genetic results. Participants were primarily motivated by altruism, desire to know more about their health, and curiosity. When asked about hypothetically receiving results, most participants in hypothetical studies wanted all results except those which were uncertain (i.e., a variant of uncertain significance (VUS)). However, participants in studies where results were returned preferred to receive only results for which an intervention was available, but also wanted VUS. Concerns about peoples’ understanding of results and possible psychosocial implications are noted. Most studies examined populations classified as “early adopters,” therefore, additional research on motivations and expectations among the general public, minority, and underserved populations is needed. View Full-Text
Keywords: all of us; genetic studies; participant expectations; precision medicine; public health; results return all of us; genetic studies; participant expectations; precision medicine; public health; results return
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
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Scherr, C.L.; Aufox, S.; Ross, A.A.; Ramesh, S.; Wicklund, C.A.; Smith, M. What People Want to Know About Their Genes: A Critical Review of the Literature on Large-Scale Genome Sequencing Studies. Healthcare 2018, 6, 96.

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