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Preferences for genetic testing among populations underrepresented in genomic research: a systematic review

European Journal of Human Genetics volume 33, pages 814–818 (2025)Cite this article

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Abstract

Equitable implementation of genomic medicine requires understanding preferences of diverse populations. Stated preference methods, such as discrete choice experiments (DCEs) and conjoint analyses, allow empirical evaluation of whether and how preferences for aspects of genomic medicine tests and services differ according to demographic characteristics. We aimed to understand the extent to which stated preference research in genomic medicine includes respondents that are population representative and evidence regarding preference heterogeneity by race and ethnicity. We conducted a systematic review of the stated preference literature in genomic medicine. We searched Web of Science, CINAHL, PsycINFO, PubMed, Embase, Cochrane Library, and SCOPUS for articles published from February 2021 to November 2023, extending a previously published systematic review. We extracted information on whether demographic characteristics of respondents were reported, whether investigators tested for preference heterogeneity based on race and ethnicity, and whether preference heterogeneity by race and ethnicity was identified. We identified 138 newly published records in addition to the 38 articles included in the original review. In total, we included 18 articles that reported participants’ race or ethnicity. Eight articles explicitly analyzed preferences by race and ethnicity, and preference heterogeneity was identified in two. Stated preference research in genomic medicine often does not include population representative samples, and preference heterogeneity is not frequently analyzed according to race and ethnicity. Improving the representativeness of respondent populations, which allows for better understanding of whether and how preferences may differ by population subgroups, is important to guide policy and implementation decisions in genomic medicine.

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Funding

This research is supported by a grant from the National Human Genome Research Institute (NHGRI), R00HG011491-03S1. Dr. Smith is supported by R00HG011491. The funder had no role in the design, data collection, data analysis, and reporting of this study.

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Authors and Affiliations

  1. Precision Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA

    Taylor Montgomery, Madison R. Hickingbotham & Hadley Stevens Smith

  2. Harvard Medical School, Boston, MA, USA

    Hadley Stevens Smith

  3. Center for Bioethics, Harvard Medical School, Boston, MA, USA

    Hadley Stevens Smith

Authors
  1. Taylor Montgomery
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  2. Madison R. Hickingbotham
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  3. Hadley Stevens Smith
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Contributions

TM and HSS designed and conducted the systematic review, performed analysis, and contributed to the original version of the manuscript. MH served as a second reviewer for the systematic review. HSS supervised the findings of the systematic review. HSS and MH contributed to the critical review and revision of the manuscript.

Corresponding author

Correspondence to Hadley Stevens Smith.

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Competing interests

HSS has received consulting income from Illumina, Inc. unrelated to this work. The other authors have no conflicts of interest to declare.

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Montgomery, T., Hickingbotham, M.R. & Smith, H.S. Preferences for genetic testing among populations underrepresented in genomic research: a systematic review. Eur J Hum Genet 33, 814–818 (2025). https://doi.org/10.1038/s41431-025-01819-8

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