Polygenic risk scores (PRSs) are increasingly able to predict complex traits; however, they perform suboptimally in populations not of European ancestry. We present CT-SLEB, a powerful method that enables the calculation of PRSs from multi-ancestry samples and provides insights into the opportunities and challenges of enhancing polygenic risk prediction across populations of diverse ancestry.
References
Kullo, I. J. et al. Polygenic scores in biomedical research. Nat. Rev. Genet. 23, 524–532 (2022). This review discusses the development, evaluation and applications of PRSs in research and clinical settings.
Fatumo, S. et al. A roadmap to increase diversity in genomic studies. Nat. Med. 28, 243–250 (2022). This paper emphasizes the importance of addressing population disparities in genetic studies to advance global health equity.
Martin, A. R. et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nat. Genet. 51, 584–591 (2019). This paper discusses the bias of existing PRSs toward populations of European ancestry.
Ruan, Y. et al. Improving polygenic prediction in ancestrally diverse populations. Nat. Genet. 54, 573–580 (2022). This paper presents an existing method for improving the accuracy of PRSs in ancestrally diverse populations.
Chatterjee, N. et al. Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies. Nat. Genet. 45, 400–405 (2013). This paper provides a framework for projecting the performance of risk-prediction models based on polygenic analyses.
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: Zhang, H. et al. A new method for multiancestry polygenic prediction improves performance across diverse populations. Nat. Genet. https://doi.org/10.1038/s41588-023-01501-z (2023).
Rights and permissions
About this article
Cite this article
Enhancing polygenic risk prediction in diverse populations: opportunities and challenges. Nat Genet 55, 1621–1622 (2023). https://doi.org/10.1038/s41588-023-01502-y
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41588-023-01502-y
- Springer Nature America, Inc.