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Patient preferences and attitudes regarding next-generation sequencing results: scoping review of the literature

Published online by Cambridge University Press:  10 May 2018

Matthew Neu
Affiliation:
University of Alabama at Birmingham, Birmingham, AL, USA
Sara Knight
Affiliation:
University of Alabama at Birmingham, Birmingham, AL, USA
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Abstract

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OBJECTIVES/SPECIFIC AIMS: Although the clinical utility of whole genome sequencing (WGS) is increasing, a gap exists between what WGS can deliver in quantity of genomic information and what results can be interpreted that patients and community members would find meaningful. Given the potential for incidental findings and variants of uncertain significance, an emphasis should be placed on understanding patient preferences towards receiving WGS results. To identify the current knowledge base on WGS preferences, we performed a scoping review. METHODS/STUDY POPULATION: A search on PubMed using terms “WES,” “WGS,” “genome sequencing,” ”attitudes,” and “preferences” identified survey research between 2012 and 2016. Summaries of population, sample, variables, and results were tabulated. RESULTS/ANTICIPATED RESULTS: Of 13 studies identified, 6 surveyed community members, 6 included medical professionals, and 2 surveyed cohorts with a specific medical condition. Only 1 study used a nationally representative sample and no study focused on a medically underserved population. Patients were most interested in receiving medically actionable results, yet preferred to have access to all available data if desired. Genetics professionals are more conservative with the return of incidental and uncertain findings. DISCUSSION/SIGNIFICANCE OF IMPACT: Existing surveys have limited representation of the US public. Future studies focused on medically underserved populations would provide a deeper understanding of attitudes and preferences toward WGS.

Type
Outcomes Research/Health Services Research/Comparative Effectiveness
Creative Commons
Creative Common License - CCCreative Common License - BY
This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
Copyright
© The Association for Clinical and Translational Science 2018