Inferring genetic ancestry: Opportunities, challenges, and implications
Open accessAbstract
Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of "ancestry" is subject to misunderstanding in both the general and scientific communities. What do we mean by ancestry? How exactly is ancestry measured? How far back can such ancestry be defined and by which genetic tools? How do we validate inferences about ancestry in genetic research? What are the data that demonstrate our ability to do this correctly? What can we say and what can we not say from our research findings and the test results that we generate? This white paper from the American Society of Human Genetics (ASHG) Ancestry and Ancestry Testing Task Force builds upon the 2008 ASHG Ancestry Testing Summary Statement in providing a more in-depth analysis of key scientific and non-scientific aspects of genetic ancestry inference in academia and industry. It culminates with recommendations for advancing the current debate and facilitating the development of scientifically based, ethically sound, and socially attentive guidelines concerning the use of these continually evolving technologies.
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Such analyses are enabling new ways to explore and discuss ancestries that move us beyond blunt definitions of self-identified race.
“and enabling new ways to explore and discuss ancestries that move us beyond blunt definitions of self-identified race.”
From ASHG Denounces Attempts to Link Genetics and Racial Supremacy (2018) · cites this paper as [8]
The available copy returns only the table of contents and a list of web resources; it provides no substantive passage from the named sections. Searches for self-identified race and for genetic ancestry offering a more nuanced account than racial categories did not retrieve text addressing the claim. (LLM, conf=0.72)
Experimental — accuracy not yet measuredSuch analyses are providing increasingly accurate ways of helping to define individuals' ancestral origins.
“Such analyses 8 are providing increasingly accurate ways of helping to define individuals' ancestral origins”
From ASHG Denounces Attempts to Link Genetics and Racial Supremacy (2018) · cites this paper as [8]
Our indexed copy yields a table of contents, including an “Accuracy of Ancestry Inferences” heading, and a list of links, but no substantive passage from that section. Searches for increasingly accurate ancestry inference and advances in genetic analysis found no text establishing the claimed improvement, so the claim cannot be verified from this copy. (LLM, conf=0.73)
Experimental — accuracy not yet measuredThe past decade has seen the emergence of strategies for assessing an individual's genetic ancestry.
“The past decade has seen the emergence of strategies for assessing an individual's genetic ancestry.”
From ASHG Denounces Attempts to Link Genetics and Racial Supremacy (2018) · cites this paper as [8]
The available indexed passages contain a contents heading, “Tools for Inferring Ancestry,” but no discussion establishing when those strategies emerged. Searches for the past decade, ancestry-estimation methods, and relevant dates returned only the contents and a list of websites, so the claimed timeline cannot be verified from our copy. (LLM, conf=0.70)
Experimental — accuracy not yet measured
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Cites
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ASHG Denounces Attempts to Link Genetics and Racial Supremacy
(2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.011 · Cited by 130 · see citing works
Health and genetic ancestry testing: time to bridge the gap
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“commonly use ancestry inferences derived from autosomal markers (typically single nucleotide polymorphisms or “ancestry informative markers”) to control for population stratification, a practice that underpins the now routine reporting of population-specific or ancestry-specific estimates of disease risks and drug res…”
Background
- Authors
- Royal, C. D., Novembre, J., Fullerton, S. M., Goldstein, D. B., Long, J. C., Bamshad, M. J., & Clark, A. G.
- Affiliations
- Duke University (US)
- University of California, Los Angeles (US)
- University of Washington (US)
- University of New Mexico (US)
- Cornell University (US)
- Corresponding author
- Royal, Charmaine D.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2010-05
- Volume
- 86
- Issue
- 5
- Pages
- 661-673
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2869013
- OpenAlex
- W2170315275
- Cited by
- 271
- References
- 7
- Citations by year
- 2026: 7 · 2025: 12 · 2024: 11 · 2023: 20 · 2022: 19 · 2021: 19 · 2020: 33 · 2019: 21 · 2018: 15 · 2017: 21 · 2016: 11 · 2015: 14 · 2014: 27 · 2013: 8 · 2012: 13
- FWCI
- 7.38
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- Funders
- National Heart, Lung, and Blood Institute (R01HL072810, R01HL072904)
- National Human Genome Research Institute (R01HG003229)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- genetic ancestry inference, direct-to-consumer genetic testing, genetic ancestry testing, genetic ancestry
- MeSH terms
- Genes, Genetic Testing, Humans, Patients, Genetic Research, White People
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