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Africans have begun to study their continent’s rich human diversity—but what comes after current grants end?

By: Elizabeth Pennisi
Volunteers in rural Uganda provided blood samples and health information for the biggest genomics effort in Africa, the Uganda Genome Resource.

Volunteers in rural Uganda provided blood samples and health information for the biggest genomics effort in Africa, the Uganda Genome Resource. PHOTO: GEORGIAN MURPHY

In 1987, 10-year-old Segun Fatumo was on the streets of Lagos, Nigeria, hawking palm oil, yams, and pepper each day after school to help put food on the table. In the evenings, he and his family crowded into a two-room dwelling without running water or electricity. He knew nothing of the plan being hatched by U.S. and U.K. geneticists to sequence the human genome.

Thirteen years later, when researchers completed the draft sequence of the human genome, Fatumo—then an undergraduate studying computer science—heard all about it. “I knew the project would change our world,” he recalls. What he didn’t realize at the time was how it would change his life.

Fast forward more than 2 decades. Fatumo is now a computational geneticist in Entebbe, Uganda, with the Medical Research Council/Uganda Virus Research Institute and the London School of Hygiene & Tropical Medicine. Genome data by the terabytes flow through his seven-person lab, which is working to pinpoint genes involved in heart, kidney, and other diseases. All members of his team are African, the data come from African donors, and the ultimate goal is to improve the health of the people of Africa.

Until recently, genetic research in Africa was scanty, and most was done by researchers swooping in from afar to gather samples, then leaving to do analyses in well-equipped labs in the United States or Europe. “African genomic study was characterized by ethical dumping, helicopter science, and exploitation,” Fatumo says. Researchers gathered samples with little regard for informed consent and without giving back to the communities they studied, he says.

Today, Fatumo and scores of other young Africans are doing a substantial and growing share of this research. “African genomics is a story that’s going to be told more and more by Africans,” says Charles Rotimi, a genetic epidemiologist at the U.S. National Human Genome Research Institute (NHGRI).

Bolstered by the internationally funded Human Heredity & Health in Africa (H3Africa) Initiative, which sponsored Fatumo as a postdoc, these researchers hope to one day use their data to bring genetically tailored medicine to people who in some places still struggle to get electricity and basic health care. The work is beginning to close a wide gap in who benefits from the human genome revolution. “There’s this genomics expansion across the world,” says Neil Hanchard, molecular geneticist at Baylor College of Medicine. “Why should Africa be left behind?”

Including African populations is also paving the way for a better understanding of the links between disease and genes in everyone, everywhere, because Africa holds more genomic diversity than any other continent. “The African genome should be used as the reference genome for the entire world,” says Tesfaye Mersha, a geneticist at the University of Cincinnati.

But genomic research in Africa has a long way to go. Researchers have only studied between 5000 and 10,000 whole genomes from Africans, compared with as many as 1 million worldwide. Africa has received less than 1% of the global investment in genomics research and clinical studies, Mersha says.

What’s more, funding for all current projects in H3Africa, a $176 million program supported by the U.S. National Institutes of Health (NIH) and the Wellcome Trust that has jump-started African genomics, is set to end in 2022. Fatumo has corralled another prestigious fellowship, but researchers across the continent are scrambling to make sure the nascent genomics community can survive—and grow.

FATUMO DECIDED he wanted to study genetics as a youngster, after a doctor explained sickle cell disease to him. His brother suffered weeklong bouts of pain from the condition. Fatumo learned that his brother had two copies of the responsible gene—and that he himself would be spared because he had just one copy. “The role genes play in disease got me thinking,” he recalls.