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.
This is a preview of subscription content, access via your institution
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
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.
Linder, J. E. et al. Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet. Med. 25, 100006 (2023). A description of the larger eMERGE study to address questions of return and outcomes.
Additional information
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
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).
Rights and permissions
About this article
Cite this article
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
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41591-024-02801-5