Next generation disparities in human genomics: concerns and remedies
Abstract
Studies of human genetics, particularly genome-wide association studies (GWAS), have concentrated heavily on European populations, with individuals of African ancestry rarely represented. Reasons for this include the distribution of biomedical funding and the increased population structure and reduced linkage disequilibrium in African populations. Currently, few GWAS findings have clinical utility and, therefore, the field has not yet contributed to health-care disparities. As human genomics research progresses towards the whole-genome sequencing era, however, more clinically relevant results are likely to be discovered. As we discuss here, to avoid the genetics community contributing to healthcare disparities, it is important to adopt measures to ensure that populations of diverse ancestry are included in genomic studies, and that no major population groups are excluded.
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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 [25]
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- Authors
- Need, A. C., & Goldstein, D. B.
- Affiliations
- Duke University (US)
- Corresponding author
- Need, Anna C.
- Goldstein, David B.
- Venue
- Trends in Genetics
- Publisher
- Elsevier BV
- Published
- 2009-11
- Volume
- 25
- Issue
- 11
- Pages
- 489-494
- ISSN
- 0168-9525 (ISSN-L)
- OpenAlex
- W2010380543
- Cited by
- 398
- References
- 6
- Citations by year
- 2026: 13 · 2025: 25 · 2024: 30 · 2023: 49 · 2022: 34 · 2021: 36 · 2020: 26 · 2019: 38 · 2018: 32 · 2017: 26 · 2016: 7 · 2015: 11 · 2014: 11 · 2013: 13 · 2012: 15
- FWCI
- 1.48
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- health disparities, genomic diversity, underrepresented groups, African ancestry, population structure, linkage disequilibrium, genome-wide association study, whole genome sequencing, biomedical research funding
- MeSH terms
- Humans, Genetic Variation, Genome, Human, Genomics, Genome-Wide Association Study
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