Research presented at the annual meeting of the American Society of Human Genetics (ASHG) on Tuesday and Wednesday shows how "woefully inadequate" such tokenism is, said Dr. Neil Hanchard of Baylor College of Medicine, who led one of the studies.
He and his colleagues sequenced the genomes of 426 people from 13 African countries and 50 ethnolinguistic groups from across the continent, producing "an unprecedented, in-depth cataloging of the genetic diversity of people across the African continent," said Dr. Kiran Musunuru, a medical geneticist at the University of Pennsylvania and chair of the ASHG program committee who was not involved in the study.
The research was done as part of Human Heredity and Health in Africa (H3Africa), a consortium that was launched in 2013 to remedy the underrepresentation of that continent in genetics research.
"There is so much genetic diversity across the African continent, if you sample from just one or two ethnolinguistic groups you know something about one or two groups," Hanchard said. Because most studies linking a DNA variant to a disease or other trait have been done on Europeans, and the human "reference genome" ‐ hailed as the blueprint of humankind ‐ is missing millions of DNA sequences that are found only in Africans, people of African ancestry are at risk of not benefitting from gene-based personalized medicine.