Diversity and inclusion in genomic research: why the uneven progress?
Open accessAbstract
Conducting genomic research in diverse populations has led to numerous advances in our understanding of human history, biology, and health disparities, in addition to discoveries of vital clinical significance. Conducting genomic research in diverse populations is also important in ensuring that the genomic revolution does not exacerbate health disparities by facilitating discoveries that will disproportionately benefit well-represented populations. Despite the general agreement on the need for genomic research in diverse populations in terms of equity and scientific progress, genomic research remains largely focused on populations of European descent. In this article, we describe the rationale for conducting genomic research in diverse populations by reviewing examples of advances facilitated by their inclusion. We also explore some of the factors that perpetuate the disproportionate attention on well-represented populations. Finally, we discuss ongoing efforts to ameliorate this continuing bias. Collaborative and intensive efforts at all levels of research, from the funding of studies to the publication of their findings, will be necessary to ensure that genomic research does not conserve historical inequalities or curtail the contribution that genomics could make to the health of all humanity.
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European male populations are the primary focus in genomics research and its derived clinical findings, neglecting other ethnicities and populations.
“European male populations are the primary focus in genomics research and its derived clinical findings, neglecting other ethnicities and populations133.”
From Sex and gender differences and biases in artificial intelligence for biomedicine and healthcare (2020) · cites this paper as [133]
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Genetic services and testing in China
Zhao, X., Wang, P., Tao, X., et al. (2013) · Journal of Community Genetics · doi:10.1007/s12687-013-0144-2 · Cited by 29 · see citing works
Novel genomic signals of recent selection in an Ethiopian population
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Self-citationPhase 3 data for PCSK9 inhibitor wows
Sheridan, C. (2013) · Nature Biotechnology · doi:10.1038/nbt1213-1057 · Cited by 22 · see citing works
Bentley, A. R., & Rotimi, C. N. (2012) · Expert Review of Endocrinology & Metabolism · doi:10.1586/eem.12.55 · Cited by 22 · see citing works
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Towards Equity in Health: Researchers Take Stock
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Self-citation
Flagged first, then by citations
Research works printed but not linked: 2
- NEJMoa054013 · DOI · Paper page
- 0b013e31819a8aa6 · DOI
Cited by
Sorted by citations
A roadmap to increase diversity in genomic studies
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Prioritizing diversity in human genomics research
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- Authors
- Bentley, A. R., Callier, S., & Rotimi, C. N.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Rotimi, Charles N.
- Venue
- Journal of Community Genetics
- Published
- 2017-07-18
- Volume
- 8
- Issue
- 4
- Pages
- 255-266
- ISSN
- 1868-310X (ISSN-L)
- 1868-6001
- PMC
- PMC5614884
- OpenAlex
- W2737066923
- Cited by
- 357
- References
- 96
- Citations by year
- 2026: 32 · 2025: 46 · 2024: 31 · 2023: 43 · 2022: 53 · 2021: 76 · 2020: 30 · 2019: 26 · 2018: 14 · 2017: 4 · 2016: 1
- FWCI
- 13.40
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Community Genetics (publishedVersion, other-oa)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Human Genome Research Institute (Z01HG200362)
- National Institute of Diabetes and Digestive and Kidney Diseases
- Center for Information Technology
- NIH Office of the Director
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- genomic research, population diversity, health disparities, underrepresented groups, research equity, research funding, publication bias
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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