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Defining and pursuing diversity in human genetic studies

Nature Genetics (2024)Cite this article

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Calls for more diverse data in genetics studies typically fall short of offering further guidance. Here we summarize a policy framework from the Global Alliance for Genomics and Health designed to fill this gap. The framework prompts researchers to consider both what types of diversity are needed and why, and how aims can be achieved through choices made throughout the data life cycle.

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Fig. 1: Questions genetics and genomics research teams should consider regarding diversity in data.
Fig. 2: Research teams can adopt strategies throughout the data life cycle that impact the goals of utilizing diverse data.

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Acknowledgements

The Diversity and Datasets taskforce acknowledges the contributions from other members of the Regulatory and Ethics Workstream, members of the public and other commenters who attended our many meetings. In particular, we acknowledge M. Afolabi, S. H. Chen, M. Doerr, J. S. Hsu, Z. Lombard, M. Mackintosh, A. Saadat and S. Singh. A.C.F.L. is supported by the NHGRI (1K99HG012809). S.S.J. is supported by National Medical Research Council, Singapore Clinician Scientist Award (NMRC/CSAINVJun21-0003)

Author information

Authors and Affiliations

  1. Nuffield Council on Bioethics, London, UK

    Maili C. Raven-Adams

  2. Department of Medicine, Stanford University, Stanford, CA, USA

    Tina Hernandez-Boussard, Vijaytha Muralidharan & Beatrice Kaiser

  3. Centre of Genomics and Policy, Victor Phillip Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, Quebec, Canada

    Yann Joly, Bartha Maria Knoppers & Hanshi Liu

  4. National Institutes of Health, Bethesda, MD, USA

    Subhashini Chandrasekharan

  5. The Terry Fox Research Institute, Vancouver, British Columbia, Canada

    Adrian Thorogood

  6. African Biobanks and Longitudinal Epidemiologic Ecosystem, Ibadan, Nigeria

    Judit Kumuthini

  7. Faculty of Law, Monash University, Melbourne, Victoria, Australia

    Calvin Wai Loon Ho

  8. Centre for Medical Ethics and Law, University of Hong Kong, Hong Kong, China

    Calvin Wai Loon Ho

  9. PHG Foundation, University of Cambridge, Cambridge, UK

    Calvin Wai Loon Ho

  10. Genoox, Tel Aviv, Israel

    Ariana Gonzlez

  11. Bioethics Institute, Medical Science Department, Pontifical Catholic University (UCA), Buenos Aires, Argentina

    Ariana Gonzlez

  12. Department of Biostatistics, University of Washington, Seattle, WA, USA

    Sarah C. Nelson

  13. Institute of Health Policy, Management and Evaluation, University of Toronto, Ontario, Canada

    Yvonne Bombard

  14. Genomics Health Services Research Program, St Michael’s Hospital, Unity Health Toronto, Ontario, Canada

    Yvonne Bombard

  15. School of Law, University of KwaZulu-Natal, Durban, South Africa

    Donrich Thaldar

  16. Connecting Science, Wellcome Genome Campus, Hinxton, UK

    Alessia Costa & Sasha Henriques

  17. Life Sciences, University of Northampton, Northampton, UK

    Jamal Nasir

  18. Centre for Human Genetics, University of Kinshasa, Kinshasa, Democratic Republic of the Congo

    Aimé Lumaka

  19. African Rare Disease Initiative https://www.ardi.africa/

    Aimé Lumaka

  20. Global Alliance for Genomics and Health https://www.ga4gh.org/

    Beatrice Kaiser

  21. SingHealth Duke–NUS Institute of Precision Medicine, Singapore, Singapore

    Saumya Shekhar Jamuar

  22. Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore, Singapore

    Saumya Shekhar Jamuar

  23. Division of Genetics, Brigham and Women’s Hospital, Boston, MA, USA

    Anna C. F. Lewis

  24. Harvard Medical School, Boston, MA, USA

    Anna C. F. Lewis

Authors
  1. Maili C. Raven-Adams
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  2. Tina Hernandez-Boussard
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  3. Yann Joly
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  4. Bartha Maria Knoppers
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  5. Subhashini Chandrasekharan
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  6. Adrian Thorogood
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  7. Judit Kumuthini
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  8. Calvin Wai Loon Ho
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  9. Ariana Gonzlez
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  10. Sarah C. Nelson
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  11. Yvonne Bombard
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  12. Donrich Thaldar
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  13. Hanshi Liu
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  14. Alessia Costa
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  15. Vijaytha Muralidharan
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  16. Sasha Henriques
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  17. Jamal Nasir
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  18. Aimé Lumaka
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  19. Beatrice Kaiser
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  20. Saumya Shekhar Jamuar
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  21. Anna C. F. Lewis
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Corresponding author

Correspondence to Anna C. F. Lewis.

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Competing interests

A.C.F.L. owns stock in Fabric Genomics. T.H.-B. reports consulting fees from Grai-Matter and Paul Hartmann AG outside the submitted work. Y.B. owns stock in Genetics Adviser. S.S.J. is a co-founder of Global Gene Corporation. The other authors declare no competing interests.

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Nature Genetics thanks the anonymous reviewer(s) for their contribution to the peer review of this work.

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Raven-Adams, M.C., Hernandez-Boussard, T., Joly, Y. et al. Defining and pursuing diversity in human genetic studies. Nat Genet (2024). https://doi.org/10.1038/s41588-024-01903-7

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