This blog post was written by Michèle Ramsay, Clement Adebomowo and Nicola Mulder
The Human Heredity and Health in Africa (H3Africa) Consortium developed as a partnership among the African Society of Human Genetics, the Wellcome Trust and the U.S. National Institutes of Health. The main objective of H3Africa is to develop genomic research capability on the African continent and use genomic science to improve the health of its people and the global community. The Consortium held its inaugural meeting in Addis Ababa in July 2012 with participants from the nine funded projects and at the end of its first 5-year phase (July 2017) has 25 projects (The pan-African Bioinformatics Network (H3ABioNet), three African Biorepositories, 8 Collaborative Centres, 7 Research Projects and 6 Ethics Projects (http://www.h3africa.org/)).
With the increasing affordability of big genomic datasets, there has been a global trend toward extensive collaboration among consortia, and massive new initiatives like the UK Biobank have come to fruition. Yet fewer than 3% of participants in these large genomic projects are of African origin and most of these are African-Americans (Popejoy and Fullerton 2016). The H3Africa Consortium plans to change these dismal statistics by increasing the amount of African data in global genomics databases and increasing the application of genomics research methods to address diseases in Africa with the greatest public health burden.
H3Africa publications describing large genomic datasets are yet to appear. One reason is the under-representation of whole genome data (genotype or sequence) from many of the major ethnolinguistic groups on the continent and therefore an incomplete understanding of African genetic variation. As a result, H3Africa first had to build its own resources before embarking on large scale genome-wide studies. Accordingly, its researchers have collected samples from large cohorts across the continent, sequenced whole genomes from selected populations, analysed the common genetic variation across major groups on the continent and developed a unique GWAS array, enriched for common African variation. This much-anticipated H3Africa SNP genotyping array, which promises to be the best-suited array available for African genome-wide association studies is now in production (it will be available commercially). The first genotyping experiments using this array are making their way through the pipeline.
Over the past five years H3Africa has grown and the Consortium is now on the threshold of publishing some of its much-anticipated genomic research. These will include a description of the approach and design of the H3Africa SNP array, and analysis of the reference genome sequence data, to enable accurate imputation and enrichment of global genomics data; and a paper exploring cross-continental diversity with the most extensive African population data yet available.
Conceived as an ambitious program, the H3Africa Consortium will utilize the strength of the diversity and richness of its datasets to fill the abyss of under-representation of African populations in the genomic landscape. With its training programs, resources and the capacity built, the foundation has been laid for new research projects and collaborations across Africa. The H3Africa Consortium is taking the first step toward the inclusion of large scale African genetic data from the continent to enrich diversity in biomedical research and to secure a place for Africa in the genome revolution.
To read related articles on the H3Africa Consortium, read the full collection here: H3A and Genomics in Africa