Medicine is moving toward a future in which a person’s DNA can help to predict disease risk, guide personalized treatment and inform therapies for genetic disorders. But as precision medicine and genetic therapies become more mainstream, the science behind these advances has a major gap: they do not work equally well for everyone.
Despite Africa’s central place in human origins and its extraordinary genetic diversity, people of African ancestry remain underrepresented in the genomic datasets used to understand disease, estimate health risks, and develop treatments.
Closing that gap is going to require more than just collecting more samples. It will take sustained investment in African scientists, research institutions, biobanks, and bioinformatics capacity. We propose an initial $100 million investment over 10 years to build a coordinated, African-led genomics initiative, with African governments, international funders and life sciences companies sharing responsibility for its success.
It will be worth the investment. We already know that studying genetic variation in African ancestry populations has helped reveal a biological mechanism that has benefited patients worldwide.
Recent studies of a protein called PCSK9 shows what researchers can gain by studying this diversity. In 2005, researchers identified naturally occurring variants in PCSK9, which is produced in the liver, among African American participants. These variants were associated with lower cholesterol. Follow-up studies linked these genetic variants to reduced coronary heart disease risk. These findings helped establish PCSK9 as a drug target and contributed to the development of PCSK9 inhibitors, a new class of cholesterol-lowering medicines now used around the world.
This story matters because the discovery began with human genetic variation that might otherwise have received less attention. A genetic difference can point to a biological pathway, and that pathway can become the basis for a treatment. There may be many more such discoveries waiting in populations that genomic research has overlooked.
The effects of underrepresentation are already visible in genetic risk prediction. Tools developed mainly with European-ancestry data can be less accurate when applied to people whose genetic backgrounds differ from the original study populations. As genomic medicine enters routine care, these gaps could influence how reliably we estimate disease risk or interpret a person’s genetic results
Closing the gap will need sustained investment into the continent’s ecosystem as we’ve already suggested. Samples and data should not simply leave the continent while expertise and benefits accumulate elsewhere. African-led programs will need long-term support while communities must also have a meaningful say in how their data are used and share in the benefits.
Our $100 million proposal is a starting ambition, not a full estimate of what the continent will need. African governments and the African Union can help coordinate national commitments and regional collaboration. International research funders and philanthropies should provide sustained support. Pharmaceutical and biotechnology companies should contribute through equitable partnerships that recognize the value of African-led discovery.
This work should strengthen African health systems, too. Research can support local expertise and diagnostic capacity while helping identify treatments relevant to the continent’s health priorities. The scientific gains, however, could reach far beyond Africa. Ultimately, when research reflects more of humanity, we have a better chance of understanding disease and developing medicines that work for more people beyond Africa.
The world may be overlooking its next important medical discovery. Investing in African genomics is a practical way to look for it.