This study seeks to highlight the scientific, regulatory and operational issues around the use of polygenic risk scores in a diverse population. The work presented here provides a framework for laboratories, providers and researchers wishing to advance the field of preventative medicine.
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References
Polygenic Risk Score Task Force of the International Common Disease Alliance. Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps. Nat. Med. 27, 1876–1884 (2021). A report from the taskforce on the potential benefits and risks of clinical use of PRSs.
Martin, A. R. et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat. Genet. 51, 584–591 (2019). This paper outlines the risks of inequitable development and deployment of PRSs.
Schoeler, T. et al. Participation bias in the UK Biobank distorts genetic associations and downstream analyses. Nat. Hum. Behav. 7, 1216–1227 (2023). A discussion on participation bias in biobanks.
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This is a summary of: 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. https://doi.org/10.1038/s41591-024-02796-z (2024).
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Considerations for clinical implementation of polygenic risk scores in diverse US populations. Nat Med 30, 354–355 (2024). https://doi.org/10.1038/s41591-024-02801-5
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DOI: https://doi.org/10.1038/s41591-024-02801-5
