Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group

• Published in: Orphanet journal of rare diseases Vol. 17; no. 1; pp. 1 - 6
• Main Authors: Lumaka, Aimé, Carstens, Nadia, Devriendt, Koenraad, Krause, Amanda, Kulohoma, Benard, Kumuthini, Judit, Mubungu, Gerrye, Mukisa, John, Nel, Melissa, Olanrewaju, Timothy O., Lombard, Zané, Landouré, Guida
• Format: Journal Article Web Resource
• Language: English
• Published: London BioMed Central Ltd 16.06.2022; BioMed Central; NLM (Medline); BMC
• Subjects: Africa; Analysis; Blacks; Blacks/genetics; Data sharing; Diagnosis; Disease; Diversity; Genealogy; General Medicine; Genetic aspects; Genetics; Genetics & genetic processes; Genetics (clinical); Genomes; Genomics; Génétique & processus génétiques; Humans; Life sciences; Medical research; Methods; Neuromuscular diseases; Next-generation sequencing; NGS interpretation; Pathogens; Pharmacology (medical); Population; Position Statement; Rare Diseases; Rare Diseases/diagnosis; Rare Diseases/genetics; Reference database; Sciences du vivant; Undiagnosed Diseases; Working groups; Africa; Canada; South Africa; Mali
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-022-02391-w

The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and reaching a diagnostic more difficult in Africa and for the African diaspora. It increases chances for false positives with variants being misclassified as pathogenic due to their novelty or rarity. We can increase African genomic data by (1) making consent for sharing aggregate frequency data an essential component of research toolkit; (2) encouraging investigators with African data to share available data through public resources such as gnomAD, AVGD, ClinVar, DECIPHER and to use MatchMaker Exchange; (3) educating African research participants on the meaning and value of sharing aggregate frequency data; and (4) increasing funding to scale-up the production of African genomic data that will be more representative of the geographical and ethno-linguistic variation on the continent. The RDWG of H3Africa is hereby calling to action because this underrepresentation accentuates the health disparities. Applying the NGS to shorten the diagnostic odyssey or to guide therapeutic options for rare diseases will fully work for Africans only when public repositories include sufficient data from African subjects.