Polygenic indices (PGIs) are increasingly advocated as screening tools for personalized medicine and education. We find, however, that rankings of individuals in PGI distributions for cardiovascular disease and education created with different construction methods and discovery samples are highly unstable. Hence, current PGIs lack the desired precision to be used routinely for personalized intervention.
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 digital issues and online access to articles
$119.00 per year
only $9.92 per issue
Rent or buy this article
Get just this article for as long as you need it
$39.95
Prices may be subject to local taxes which are calculated during checkout
References
Torkamani, A., Wineinger, N. E. & Topol, E. J. The personal and clinical utility of polygenic risk scores. Nat. Rev. Genet. 19, 581–590 (2018). A review of existing evidence on personal and clinical benefits of polygenic risk profiling.
Biroli, P. et al. The economics and econometrics of gene-environment interplay. Preprint at https://doi.org/10.48550/arXiv.2203.00729 (2022). This article discusses the nuances of estimating the interplay between nature and nurture using PGIs.
Aragam, K. G. et al. Limitations of contemporary guidelines for managing patients at high genetic risk of coronary artery disease. J. Am. Coll. Cardiol. 75, 2769–2780 (2020). This article presents a CVD prediction model that integrates genetic risk.
Wand, H. et al. Improving reporting standards for polygenic scores in risk prediction studies. Nature 591, 211–219 (2021). This study advocates transparent reporting of the construction of PGIs.
Turley, P. et al. Problems with using polygenic scores to select embryos. N. Engl. J. Med. 385, 79–85 (2021). This study critically discusses the use of PGIs for embryo selection.
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: Muslimova, D. et al. Rank concordance of polygenic indices. Nat. Hum. Behav. https://doi.org/10.1038/s41562-023-01544-6 (2023).
Rights and permissions
About this article
Cite this article
Individual ranking based on polygenic indices is unstable. Nat Hum Behav 7, 678–679 (2023). https://doi.org/10.1038/s41562-023-01553-5
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41562-023-01553-5
