In 2020, an analysis of 426 African genomes, involving researchers from 15 African countries, uncovered 3 million new variants in the human genome. The discovery contributed to the development of a tool that enables researchers to identify genetic associations specifically in African populations — the Infinium H3Africa Consortium genotyping array, produced by the US biotechnology firm Illumina.
Although various enterprises have supported cutting-edge human genomics in Africa, the Human Heredity and Health in Africa (H3Africa) initiative, which supported this work, has probably contributed the most in terms of infrastructure and training. The US$176-million programme began in 2010, funded by the US National Institutes of Health (NIH) and the UK biomedical charity Wellcome (in partnership with the African Society of Human Genetics). Projects have ranged from population-based genomic studies of common disorders, such as heart disease, to investigations of infectious diseases, such as COVID-19. Together, some 51 projects, all led by African scientists and involving researchers from more than 30 African countries, have resulted in 50,000 samples being genotyped and nearly 700 papers being published.
Thanks to H3Africa and other genomics initiatives, such as the Nigerian 100K Genome Project, African genomics is now poised to improve the health of millions of people worldwide, including those across the continent and the African diaspora. But building on the discoveries made so far — and especially applying findings to the clinic — will require several systemic changes, including a major shift in how genomics research in Africa is funded.
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