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Human genetics

Global genomic diversity for All of Us

Nature Reviews Genetics volume 25, page 303 (2024)Cite this article

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The National Institutes of Health (NIH) All of Us research programme has reported the data release of approximately 245,000 clinical-grade whole-genome sequences and genome-wide genotyping data on more than 300,000 participants in a recent publication in Nature. Of the participants with genomic data, 46% of individuals identify with underrepresented racial and minority ethnic groups, and 77% identify with groups that have been historically underrepresented in biomedical research, for reasons including race, ethnicity, age, geography, sexual orientation and gender identity, income, education, access to healthcare and/or disability. Combined with phenotype data from a combination of electronic health records, physical measurements, survey responses and wearables, All of Us provides a rich resource of unprecedented diversity for research and discovery.

According to a recent comment piece by Bianchi et al., “All of Us was intentionally designed as a resource that addresses diversity and inclusion at all levels: diversity in participant demographics; diversity in data types; and diversity in researchers”. A longitudinal cohort study that started enrolment in 2018, All of Us aims to extend the number of participants to at least 1 million US-based individuals by the end of 2026.

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References

Original articles:

  • The All of Us Research Program Genomics Investigators. Genomic data in the All of Us Research Program. Nature 627, 340–346 (2024)

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  • Bianchi, D. W. et al. The All of Us Research Program is an opportunity to enhance the diversity of US biomedical research. Nat. Med. 30, 330–333 (2024)

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  • Lennon, N. J. et al. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations. Nat. Med. 30, 480–487 (2024)

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  • Venner, E. et al. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun. Biol. 7, 174 (2024)

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Related article

  • Kachuri, L. et al. Principles and methods for transferring polygenic risk scores across global populations. Nat. Rev. Genet. 25, 8–25 (2024)

    Article  CAS  PubMed  Google Scholar 

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  1. Nature Reviews Genetics http://www.nature.com/nrg/

    Linda Koch

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  1. Linda Koch
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Correspondence to Linda Koch.

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Koch, L. Global genomic diversity for All of Us. Nat Rev Genet 25, 303 (2024). https://doi.org/10.1038/s41576-024-00727-9

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