Genomics is failing on diversity
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Poor generalizability of genetic studies across populations arises from the overwhelming abundance of European descent studies and dearth of well-powered studies in globally diverse populations.
“Poor generalizability of genetic studies across populations arises from the overwhelming abundance of European descent studies and dearth of well-powered studies in globally diverse populations25–28.”
From Clinical use of current polygenic risk scores may exacerbate health disparities (2019) · cites this paper as [26]
Because most genome-wide association studies have been conducted in populations with European ancestry, the effect sizes used in calculating polygenic scores have been calibrated on Europeans, and their values might not transfer accurately to other populations.
“So far, because most genome-wide association studies have been conducted in populations with European ancestry [33], the effect sizes used in calculating polygenic scores have been calibrated on Europeans, and their values might not transfer accurately to other populations.”
From Interpreting polygenic scores, polygenic adaptation, and human phenotypic differences (2019) · cites this paper as [33]
81% of GWAS studies are conducted in individuals of European ancestry.
“Although polygenic risk scores have a great potential as predictive biomarkers, 81% of GWAS studies are conducted in individuals of European ancestry.31”
From Addressing bias in big data and AI for health care: A call for open science (2021) · cites this paper as [31]
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- Authors
- Popejoy, A. B., & Fullerton, S. M.
- Affiliations
- University of Washington (US)
- Corresponding author
- Popejoy, Alice B.
- Fullerton, Stephanie M.
- Venue
- Nature
- Published
- 2016-10-12
- Volume
- 538
- Issue
- 7624
- Pages
- 161-164
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC5089703
- OpenAlex
- W2531587846
- Cited by
- 1,924
- References
- 13
- Citations by year
- 2026: 211 · 2025: 209 · 2024: 182 · 2023: 249 · 2022: 250 · 2021: 269 · 2020: 176 · 2019: 168 · 2018: 137 · 2017: 62 · 2016: 8
- FWCI
- 101.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Institutes of Health (5p50hg003374-10)
- National Human Genome Research Institute (P50-HG003374, U01HG007307, U01HG006507)
- National Institute of General Medical Sciences (T32GM081062)
- U.S. National Library of Medicine (T15LM007442)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Keywords
- population diversity, genomics, precision medicine, underrepresented groups, genetic ancestry, health disparities
- MeSH terms
- Humans, Genetic Variation, Genomics
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