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African genomes hold the key to accurate genetic risk prediction

Nature Human Behaviour volume 7, pages 295–296 (2023)Cite this article

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The majority of polygenic risk scores (PRS) (also known as polygenic scores, genetic risk scores or polygenic indexes) have been generated and optimized in peoples of European ancestries to predict complex traits and disease risk. As PRS are frequently based on genome-wide association studies (GWAS), the overrepresentation of European populations in GWAS hampers the applicability of PRS to other ancestries and thus limits the implementation of PRS in genomic medicine. Given that Africa is the origin of modern humans, African populations possess a greater degree of genetic diversity than those of any other continent, and the genetic diversity found in non-African populations is largely a subset of that found in Africa1. Despite being the site of humanity’s origin and of corresponding importance for genomic studies, Africa lags behind in genomic research: nearly nine out of ten genomic studies are conducted in people of European descent, and only 1.1% of genomic studies are conducted in people of African descent2. Excluding populations in Africa and their genetic diversity will continue to weaken the accuracy and transferability of PRS.

PRS have become widespread in biomedical research and, in many cases, have entered clinical studies, where their utility is being assessed as part of clinical practice3. The rapid commercialization of PRS is occurring in many wealthy countries, where PRS are being applied in various settings — for example, risk prediction for cardiovascular disease, diabetes4 and cancers. Because PRS technology was developed primarily using data from non-African populations, its accuracy and transferability are frequently limited for individuals with African genetic ancestry, which potentially leads to unreliable results owing to genetic and even environmental differences between populations4.

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Fig. 1: A growing number of African genome resources are capturing genetic diversity across Africa, which is key to improving the power and equitability of PRS across global populations.

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Authors and Affiliations

  1. Medical Research Council/Uganda Virus Research Institute and London School of Hygiene & Tropical Medicine Uganda Research Unit, Entebbe, Uganda

    Segun Fatumo

  2. Department of Non-communicable Disease Epidemiology, London School of Hygiene & Tropical Medicine, London, UK

    Segun Fatumo

  3. H3Africa Bioinformatics Network (H3ABioNet) Node, Center for Genomics Research and Innovation, National Biotechnology Development Agency, Abuja, Nigeria

    Segun Fatumo

  4. Cambridge Baker Systems Genomics Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK

    Michael Inouye

  5. Heart and Lung Research Institute, University of Cambridge, Cambridge, UK

    Michael Inouye

  6. Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia

    Michael Inouye

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  1. Segun Fatumo
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  2. Michael Inouye
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Correspondence to Segun Fatumo.

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Fatumo, S., Inouye, M. African genomes hold the key to accurate genetic risk prediction. Nat Hum Behav 7, 295–296 (2023). https://doi.org/10.1038/s41562-023-01549-1

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