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  • Perspective
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Promoting equity in polygenic risk assessment through global collaboration

Nature Genetics volume 56, pages 1780–1787 (2024)Cite this article

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Abstract

The long delay before genomic technologies become available in low- and middle-income countries is a concern from both scientific and ethical standpoints. Polygenic risk scores (PRSs), a relatively recent advance in genomics, could have a substantial impact on promoting health by improving disease risk prediction and guiding preventive strategies. However, clinical use of PRSs in their current forms might widen global health disparities, as their portability to diverse groups is limited. This Perspective highlights the need for global collaboration to develop and implement PRSs that perform equitably across the world. Such collaboration requires capacity building and the generation of new data in low-resource settings, the sharing of harmonized genotype and phenotype data securely across borders, novel population genetics and statistical methods to improve PRS performance, and thoughtful clinical implementation in diverse settings. All this needs to occur while considering the ethical, legal and social implications, with support from regulatory and funding agencies and policymakers.

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Fig. 1: A framework for global collaboration for polygenic risk assessment.

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Acknowledgements

I.J.K. is supported by the Mayo Center for Individualized Medicine and by the following grants from the US NHGRI: U01 HG11710 (the PRIMED Consortium), U01 HG06379 (the eMERGE Network) and U24 HG09650 (the ClinGen Consortium). I thank investigators in the eMERGE, PRIMED and ClinGen consortia for many helpful discussions and T. Manolio, H. Rehm and S. Gogarten for reading a draft of the manuscript and providing feedback.

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  1. Department of Cardiovascular Medicine and the Gonda Vascular Center, Mayo Clinic, Rochester, MN, USA

    Iftikhar J. Kullo

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Correspondence to Iftikhar J. Kullo.

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Kullo, I.J. Promoting equity in polygenic risk assessment through global collaboration. Nat Genet 56, 1780–1787 (2024). https://doi.org/10.1038/s41588-024-01843-2

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