Almost a decade after the first human genome was published, famed anti-apartheid leader Archbishop Desmond Tutu and three African bushmen became the first sub-saharan Africans to have their genes fully decoded. The work aimed to further decipher the full spectrum of human genetic diversity and the role that genes play in health.
But that study was published in 2010. While the pace of genetic research has exploded around the world since then, few Africans have joined Tutu’s ranks. According to Dartmouth University postdoctoral researcher Geoffrey Siwo, less than 10% of all genetic data available in the world today is from African populations.
To Siwo, a native of Kenya, that statistic reflects a large gap in the world’s medical knowledge. Not only does it mean that less life-saving biomedical research is focused on African health, it also means that the global research community is missing out on a major portion of all human variation. Human evolution, after all, began in Africa, resulting in incredibly diverse sets of genes, whereas European and Asian populations all sprung more recently from relatively few common ancestors.
“The difference between the genetics of two individuals of two who are from Africa is much greater than the difference between a European and an Asian,” says Siwo. For example, when scientists did those first studies on Tutu and the three others, they discovered 1.3 million genetic variants that had never been seen before. “The big lack of data from African populations has a very huge impact on our understanding of disease in all the world,” he says.
Siwo, a 2014 TED Fellow, is now launching a project with his Dartmouth colleagues, Jason Moore and Scott Williams, to correct this imbalance. Over the next one to two years, the United Genomes Project’s initial aims are to recruit 1,000 U.S. residents who were born in Africa and compile an openly accessible database of key portions of their genomes.
The work should help drug researchers develop more personalized medicines and medical recommendations for Africans, especially for diseases more prevalent in Africa, Siwo says. For example, among AIDS patients taking the drug Efavirenz, many Ugandans carry a genetic variant that results in them experiencing
fewer more side effects than an American would. But oftentimes medical recommendations are based on data collected on U.S. or European populations.
A second major focus of the work will be in crowdsourcing the data analysis and providing online education and training for students and researchers in Africa, a goal Siwo is passionate about. He tells the story of how he learned to do large-scale computer analysis of DNA in 2002, while he was an undergraduate in Kenya. He would go to one of the few cybercafes and look at whatever material he could get his hands on. He went on to publish a paper that he presented at the American Society for Microbiology in 2003.
“I got very convinced at a very early time about the power of open data sets and the power of the web as a tool in helping people to make discoveries,” he says. He believes more such opportunities should be available in Africa, so more research can be directed–and discoveries made–locally.
For now, the team will rely largely on crowdfunding and is also hoping that individuals who volunteer will fund their own analysis using 23andMe’s home consumer test kits. Participating in the project will be as easy as sharing 23andMe data with the research team. While sequencing 1,000 people will not be enough to explore the full breadth of genetic diversity among Africans, Siwo says it will help researchers understand the general amount and scale of genetic variation. “There’s always something new still when you look at new individuals, which means that the diversity is extremely enormous,” Siwo says.