Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Comment
  • Published:

Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications

Nature Genetics volume 56, pages 555–556 (2024)Cite this article

Subjects

In March 2023, the National Academies of Sciences, Engineering, and Medicine (NASEM) released a consensus study report titled Using Population Descriptors in Genetics and Genomics Research1. Sponsored by the US National Institutes of Health, the report is more than a discussion of the use of terminology; the authors of the NASEM report suggest a tectonic shift away from current models that use race, ethnicity, and geographic origin as proxies for genetic ancestry groups (that is, a set of individuals who share more similar genetic ancestries) in genetic and genomic science. The recommendations are rooted in evidence that genetic variation in individuals falls, in general, on a continuum of variation not captured well by existing population descriptors and that the ongoing use of such descriptors as analytical variables jeopardizes the scientific validity of research2. Furthermore, the authors of the NASEM report point out that current scientific practices can sometimes perpetuate harmful typological thinking about individuals, including racism.

Shifting genetic and genomic science away from the pervasive and long-standing use of race, ethnicity, and geographic origins as tools for subdividing people presumed to have greater shared genetic ancestry will not be easy. The proposed changes have implications for genetic and genomic study design, data analysis, and results interpretation, and would require sustained support on the part of various stakeholders. The report offers a nuanced strategy to facilitate the shift, outlining a framework for behavior change for the field of human genetics founded on principles of respect, beneficence, equity and justice, validity and reproducibility, and transparency and replicability. These principles underlie the remaining three domains of the framework that include requisites for sustained change, specific guidance for the selection and use of population descriptors in genetics and genomics research, and strategies for implementation and accountability. A total of 13 recommendations are detailed in the report, each related to one of these domains. The recommendations encompass a wide variety of stakeholders in science from study participants to researchers to funders to biomedical journal editors.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

References

  1. National Academies of Sciences, Engineering, and Medicine. Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field (National Academies Press, 2023).

  2. Khan, A. T. et al. Cell Genom. 2, 100155 (2022).

  3. Whitman, A. et al. Addressing Social Determinants of Health: Examples of Successful Evidence-Based Strategies and Current Federal Efforts, report no. HP-2022-12; https://go.nature.com/4c2uUkx (ASPE, 2022).

  4. Flanagin, A., Frey, T. & Christiansen, S. L. JAMA 326, 621–627 (2021).

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

We thank S. Beachy for insightful comments on early drafts of the manuscript. We also thank V. L. Bonham Jr, K. Manickam and C. D. M. Royal for their review and comments. V. L. Bonham Jr’s review was conducted in his personal capacity and does not necessarily reflect the official position of the National Human Genome Research Institute, the National Institutes of Health, or the US Department of Health and Human Services.

Author information

Authors and Affiliations

  1. Maine-Dartmouth Family Medicine Residency, Augusta, ME, USA

    W. Gregory Feero

  2. JAMA https://jamanetwork.com/journals/jama

    W. Gregory Feero, Annette Flanagin & Kirsten Bibbins-Domingo

  3. University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

    Robert D. Steiner

  4. Genetics in Medicine https://www.gimjournal.org/

    Robert D. Steiner

  5. Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA

    Anne Slavotinek

  6. American Journal of Medical Genetics https://onlinelibrary.wiley.com/journal/15524833

    Anne Slavotinek

  7. Nature Genetics https://www.nature.com/ng/

    Tiago Faial

  8. Departments of Pediatrics and Genome Sciences, University of Washington, Seattle, WA, USA

    Michael J. Bamshad

  9. Human Genetics and Genomics Advances https://www.cell.com/hgg-advances/home

    Michael J. Bamshad

  10. Departments of Psychiatry and Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada

    Jehannine Austin

  11. Journal of Genetic Counseling https://onlinelibrary.wiley.com/journal/15733599

    Jehannine Austin

  12. Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA

    Bruce R. Korf

  13. The American Journal of Human Genetics https://www.cell.com/ajhg/home

    Bruce R. Korf

Authors
  1. W. Gregory Feero
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Robert D. Steiner
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Anne Slavotinek
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Tiago Faial
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Michael J. Bamshad
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Jehannine Austin
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Bruce R. Korf
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Annette Flanagin
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Kirsten Bibbins-Domingo
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to W. Gregory Feero.

Ethics declarations

Competing interests

R.D.S. reports receiving personal fees from Leadiant, Mirum, and PTC, and being an employee with equity from PreventionGenetics, part of Exact Sciences. A.S. reports receiving consulting fees from UptoDate. T.F. is chief editor of Nature Genetics. T.F. was not involved in the editorial handling or decision to accept this paper. His involvement has been disclosed internally to editorial directors at Springer Nature and approved. M.J.B. reports serving on the scientific advisory board of GeneDx and receiving research funding from GeneDx, Illumina, and PacBio. J.A. reports receiving personal fees for consulting from 23andme and from BC Mental Health and Substance Use Services, grants from Genome BC, and the Canadian Institutes of Health Research, outside the submitted work. B.R.K. reports serving on medical advisory boards to Alexion, SpringWorks, Infixion, Recursion, and Healx. No other disclosures were reported.

Additional information

Editorial Note: This article is being published in multiple journals: Genetics in Medicine, Human Genetics and Genomics Advances, The American Journal of Human Genetics, Nature Genetics, and JAMA, published by Elsevier Inc, Springer Nature America Inc. and JAMA Network. The articles are identical except for minor stylistic and spelling differences in keeping with each journal’s style. Either citation can be used when citing this article.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Feero, W.G., Steiner, R.D., Slavotinek, A. et al. Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications. Nat Genet 56, 555–556 (2024). https://doi.org/10.1038/s41588-024-01708-8

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41588-024-01708-8

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing