Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine
Open accessAbstract
An important application of modern genomics is diagnosing genetic disorders. We use the largest publicly available exome sequence database to show that this key clinical service can currently be performed much more effectively in individuals of European genetic ancestry.
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Including individuals of non-European ancestries in genetic studies promotes healthcare equity and boosts genetic discoveries.
“Including individuals of non-European ancestries in genetic studies promotes healthcare equity and boosts genetic discoveries11,30.”
From Rare variant associations with plasma protein levels in the UK Biobank (2023) · cites this paper as [30]
The Conclusions (page unavailable) say that increasing ancestry diversity in sequenced reference cohorts improves genomic interpretation for non-European individuals and helps prevent healthcare inequalities. The paper also describes improved identification of candidate variants, but it does not establish the broader claim that inclusion boosts genetic discoveries. (LLM, conf=0.82)
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- Authors
- Petrovski, S., & Goldstein, D. B.
- Affiliations
- The Royal Melbourne Hospital (AU)
- Columbia University (US)
- Corresponding author
- Petrovski, Slavé
- Goldstein, David B.
- Venue
- Genome Biology
- Published
- 2016-07-14
- Volume
- 17
- Issue
- 1
- Pages
- 157-157
- ISSN
- 1465-6906 (ISSN-L)
- 1474-760X
- PMC
- PMC4944427
- OpenAlex
- W2461009071
- Cited by
- 255
- References
- 1
- Citations by year
- 2026: 25 · 2025: 17 · 2024: 23 · 2023: 30 · 2022: 17 · 2021: 26 · 2020: 62 · 2019: 20 · 2018: 16 · 2017: 16 · 2016: 3
- FWCI
- 12.30
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Genome biology (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by)
- Funders
- Medical Research Council
- National Health and Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- genetic ancestry, health care disparities, precision medicine, genetic disorder diagnosis, exome sequencing, genetic variation, underrepresentation, European ancestry
- MeSH terms
- Humans, Genetic Variation, Genomics, Genetic Diseases, Inborn, White People, Precision Medicine
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