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Misuse of the term ‘trans-ethnic’ in genomics research

Nature Genetics volume 53, pages 1520–1521 (2021)Cite this article

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A concerning trend in genetics is the common use of the term ‘trans-ethnic’ to describe analyses that combine or compare several ancestrally diverse populations. In this commentary, we discuss how this term is inaccurate and alienating. We propose that geneticists avoid using the term trans-ethnic entirely and that researchers across disciplines reach a new consensus about the best terms to use to describe the populations we study.

Although any pair of humans shares close to 99.9% of DNA bases, the 0.1% difference constitutes millions of bases of DNA spread across the genome, contributing to human genetic diversity1,2. Owing to human migration, drift and selection, there are complex patterns of genetic variation that often correspond to where an individual’s many ancestors lived, referred to by geneticists as ancestry3,4,5. Human genetic studies have focused disproportionately on individuals of European ancestry. This lack of diversity is now widely recognized as a major problem for the field, as it risks exacerbating health disparities6. As geneticists work to overcome this challenge, methods and analyses that leverage data from cohorts with diverse ancestries are increasingly valuable. Researchers, however, must take care with the words that they use to describe those cohorts.

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Fig. 1: Increased usage of the term trans-ethnic in PubMed NCBI publications since 2009.

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Acknowledgements

We thank A. Bloemendal, S. Callier, A. Jabloner, E. Hammonds, B. Ogbunu, A. Price, D. Reich and P. Turley for critical reading and comments on this manuscript. L.C. is supported by an Alfred P. Sloan Research Fellowship and a David & Lucile Packard Fellowship for Science and Engineering. H.F. was supported by NIH DP5 OD024582.

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Author notes

  1. These authors contributed equally: Mireille Kamariza, Lorin Crawford, David Jones, Hilary Finucane.

Authors and Affiliations

  1. Society of Fellows, Harvard University, Cambridge, MA, USA

    Mireille Kamariza

  2. Microsoft Research New England, Cambridge, MA, USA

    Lorin Crawford

  3. Brown University, Providence, RI, USA

    Lorin Crawford

  4. Harvard University, Cambridge, MA, USA

    David Jones

  5. Massachusetts General Hospital, Boston, MA, USA

    Hilary Finucane

  6. Broad Institute of MIT and Harvard, Boston, MA, USA

    Hilary Finucane

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  1. Mireille Kamariza
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All authors contributed equally.

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Correspondence to Mireille Kamariza, Lorin Crawford, David Jones or Hilary Finucane.

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Kamariza, M., Crawford, L., Jones, D. et al. Misuse of the term ‘trans-ethnic’ in genomics research. Nat Genet 53, 1520–1521 (2021). https://doi.org/10.1038/s41588-021-00952-6

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