A recently published seven-year study in the journal Cell provides new insights into human history and biology, as well as potential implications for precision medicine approaches in the future. The study, conducted by an international team of researchers led by the University of Pennsylvania, focused on genome sequences of 180 indigenous Africans from a dozen ethnically, culturally, geographically, and linguistically varied populations.
This is the first study in the world to feature rigorous whole-genome sequencing of such a genetically diverse mix of African groups. It is deemed significant because Africans, despite their essential role in the origins and evolution of anatomically modern humans, are still underrepresented in human genomic studies.
Apart from significantly expanding what is known about human genetic diversity, the findings of the study also offer new insights into human history and biology. The study characterizes millions of genomic variants known as single nucleotide polymorphisms (SNPs), many of which were predicted to be functional and of potential biomedical relevance. Based on the variants, the study depicts a complex demographic history of African populations, consisting of ancient population divergence, regional and cross-continental migration, and admixture events.
The study also has implications for understanding health conditions common in people of African ancestry, which could inform precision medicine approaches in the future. For example, when the research team cross-referenced the previously identified SNPs with those in a widely used database for clinical studies, they discovered many of the variants found in the African individuals in the study had been classified as pathogenic.
According to Alfred Njamnshi, a co-author of the paper and a professor at Cameroon’s University of YaoundeI, “If all humans came out of Africa, as increasing evidence suggests, it would be expected that more effort and resources be put into studying human genetics in Africans so as to better understand not only human genetics but human physiology and pathology in general, the basis for more precise human medicine.”
The study was focused on populations that practice more traditional lifestyles in remote areas that can be difficult to access. The research team hopes that their findings will encourage more research into African genetics and contribute to a more comprehensive understanding of human genetic diversity.