A call-to-action by the H3Africa rare diseases working group for increased genomic data generation to solve rare diseases
The Human Heredity and Health in Africa Consortium (H3Africa) rare diseases working group has published a call-to-action in the Orphanet Journal for Rare Diseases demanding an increase of African genomic data within disease databases in order to resolve rare diseases in the continent and for the African diaspora; notably through Next Generation Sequencing. The study highlights the underrepresentation of the genomics of African populations in these databases, revealing health disparities with the rest of the world, and calls investigators with African data to share their findings through public resources such as gnomAD, AVGD, ClinVar, DECIPHER and to use MatchMaker Exchange. The study also identifies increased education of African research participants as a main driver for increased African genomic data, along with adding consent sharing to research toolkits. The H3Africa rare disease working group also call for increased local and international funding to support this initiative.
