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Precision Through Diversity

Population diversity in genomics databases is the key to providing true precision medicine

In the last decade, several projects in different countries launched to try to rectify these disparities. The Human Heredity and Health in Africa Initiative, also known as H3Africa, is a continent-wide consortium of human geneticists and other researchers, supported by the U.S. National Institutes of Health (NIH) and the U.K.’s Wellcome Trust, which was set up in 2011.

Last year, members of H3Africa published an important study in Nature that involved whole-genome sequencing of 426 individuals from 50 different population groups across Africa. This study revealed 3 million new genetic variants and striking differences between African population groups and Western European groups.

“Our recent study highlights how much we can still learn by even adding a relatively small number of genomes from understudied populations,” Zané Lombard, one of the authors of the 2020 paper who is a researcher at the University of the Witwatersrand, Johannesburg, told Clinical Omics.

“We also show that we are not yet reaching a plateau in new discoveries, and therefore can learn much more by increasing the number of African genomes available in the global resource.”

A new genome project for Africa—the Three Million African Genomes (3MAG) project—was proposed last year as a next step to learn more about the broad genetic diversity across the continent, but how easy it will be to set up such an ambitious project is uncertain.

“Funding for such a large-scale agenda might be challenging,” said Lombard. “There is a definitive need for political will and support from local governments to ensure the success of such an initiative. It is important that the scientists involved make a clear case for the potential health, infrastructural and intellectual benefits to ensure buy-in from local Health and Science Ministries. Although there is a good foundation of sequencing technology on the continent, I would imagine that a major investment in further high-throughput facilities on the continent would be necessary.”