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
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Date
2022
Journal Title
Journal ISSN
Volume Title
Publisher
BMC
Abstract
The rich and diverse genomics of African populations is significantly underrepresented in reference and in diseaseassociated
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.
Description
Keywords
Data sharing, Diversity, African diaspora, Reference database, Rare Diseases Day
Citation
Lumaka, A. et al. (2022). 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. Orphanet Journal of Rare Diseases, 17(1), 230. https://doi.org/10.1186/s13023-022-02391-w