Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing - PubMed (original) (raw)

Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing

Joon-Ho Yu et al. Am J Hum Genet. 2014.

Abstract

Professional recommendations for the return of results from exome and whole-genome sequencing (ES/WGS) have been controversial. The lack of clear guidance about whether and, if so, how to return ES/WGS incidental results limits the extent to which individuals and families might benefit from ES/WGS. The perspectives of genetics professionals, particularly those at the forefront of using ES/WGS in clinics, are largely unknown. Data on stakeholder perspectives could help clarify how to weigh expert positions and recommendations. We conducted an online survey of 9,857 genetics professionals to learn their attitudes on the return of incidental results from ES/WGS and the recent American College of Medical Genetic and Genomics Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing. Of the 847 respondents, 760 completed the survey. The overwhelming majority of respondents thought that incidental ES/WGS results should be offered to adult patients (85%), healthy adults (75%), and the parents of a child with a medical condition (74%). The majority thought that incidental results about adult-onset conditions (62%) and carrier status (62%) should be offered to the parents of a child with a medical condition. About half thought that offered results should not be limited to those deemed clinically actionable. The vast majority (81%) thought that individual preferences should guide return. Genetics professionals' perspectives on the return of ES/WGS results differed substantially from current recommendations, underscoring the need to establish clear purpose for recommendations on the return of incidental ES/WGS results as professional societies grapple with developing and updating recommendations.

Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Figures

Figure 1

Figure 1

Attitudes of Genetics Professionals toward the Return of Incidental Results This figure illustrates genetics professionals’ (A) overall attitudes toward the return of incidental results from clinical ES/WGS, (B) attitudes about how to offer incidental results for return, and (C) attitudes toward the ACMG recommendations on incidental results from ES/WGS. Question number (e.g., 1) corresponds to the original question number on the online survey. Sample size (n) is presented and varies per question because respondents were allowed to skip questions. Blue bars indicate the proportion of respondents who agreed (including both “strongly agree” and “agree”) with corresponding statements or answered “yes” to corresponding questions. Orange bars indicate the proportion of respondents who disagreed (including both “strongly disagree” and “disagree”) with corresponding statements or answered “no” to corresponding questions. Grey bars indicate the proportion of respondents who selected “neither agree nor disagree” for corresponding statements or answered “don’t know” to corresponding questions. All bar values are rounded percentages calculated with the total number of respondents for each corresponding statement or question (n) as the denominator. Because small SEs ranged between 1% and 2%, bars are not shown. Colored circles indicate the proportion of respondents who agreed (blue) or disagreed (orange) by grouped categories of self-reported profession: clinician (n = 380, including clinical geneticist, medical geneticist, and genetic counselor), researcher (n = 207, including human geneticist, population geneticist, and genetic epidemiologist), and ELSI researcher (n = 26). A two-sample test of proportion was used for assessing significant differences in agreement or disagreement between clinicians and researchers. One asterisk indicates a significant difference with a p value < 0.05; two asterisks indicate a significant difference with a p value < 0.01.

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