Problems stemming from African underrepresentation in genomic research

Africa’s underrepresentation in human genomics is significantly worse than previously understood, as the majority of genetic and genomic studies continue to focus predominantly on populations of European ancestry. Thanks to the tireless efforts by some researchers, giant pharmaceutical firms are now starting to comprehend to the extent of the problem and act. 

A paper shared by the Nature publication has previously cautioned that this disparity could lead to the exclusion of underrepresented populations from advancements in understanding disease mechanisms, early diagnosis, targeted drug development, and improved clinical care.

Segun Fatumo, of the London School of Hygiene and Tropical Medicine, who led a multinational team of researchers from South Africa, Uganda, the United Kingdom, and the United States, emphasized in the article that the current structure of genomic studies perpetuates this imbalance. The team’s findings reveal that, as of June 2021, about 86% of genomics studies involved participants of European descent, up from 81% in 2016. This rise underscores a widening gap, despite repeated calls for greater diversity in genomics research. 

Scientists are now embarking on an ambitious project to gather genetic material from 500,000 individuals of African ancestry, aiming to create what could become the world’s largest genomic database focused on this population.

The goal is to develop a new "reference genome" — a foundational template used to compare individual DNA sequences — that will enhance understanding of genetic variations specific to people of African descent. According to AP, this research could pave the way for new medicines, improved diagnostic tools, and a reduction in health disparities affecting Black communities.

The initiative, first launched in 2023, is a collaborative effort led by Meharry Medical College in Nashville, Tennessee, in partnership with pharmaceutical giants Regeneron Genetics Center, AstraZeneca, Novo Nordisk, and Roche. While these companies are providing funding, the data will be managed by the Diaspora Human Genomics Institute, a nonprofit organization established by Meharry to oversee the project.

Fatumo also criticized the misclassification of studies involving African American populations as contributions to Africa’s genomic data. “African Americans don’t represent Africa—they only reflect a small portion of the continent’s genetic diversity,” he explained, emphasizing that initiatives targeting African Americans do not adequately address the global need for African genomic data.

According to the report, one of the co-authors and researcher for Molecular Bioscience in South Africa, Tinashe Chikowore, stressed that excluding Africa in genomic research deprives the world of its unique genetic diversity. He highlighted examples of population-enriched, clinically significant genetic variants that have been identified in underrepresented groups. One key discovery is the loss-of-function variants in the PCSK9 gene, found in populations of African ancestry, which reduce low-density lipoprotein cholesterol levels and led to the development of PCSK9 inhibitor drugs—an innovation benefiting global health.

“These variants are highly concentrated in African individuals, demonstrating the value of Africa’s genetic diversity to scientific discovery,” Chikowore said.

Despite the new efforts to battle the issue of underrepresentation, researches stress that genomics research requires comprehensive efforts. Stakeholders must prioritize local participation, foster trust, and ensure mutual respect in partnerships. By doing so, the genomics research community can close the diversity gap and fully harness the potential of Africa’s genetic contribution to global health.

By Nazrin Sadigova