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Home > Global Health Matters Mar/Apr 2022 > Human Heredity and Health in Africa (H3Africa) resources and achievements endure beyond its end Print

Resources developed by H3Africa endure beyond its end

March/ April 2022 | Volume 21 Number 2

The Human Heredity and Health in Africa (H3Africa) program wraps up this August after 10 years of funding. When H3Africa was first discussed—less than a decade after the human genome was first sequenced—next generation sequencing had finally become affordable and genome-wide association studies (GWAS) were beginning to come to fruition. Still, only a small portion of the world carried out this important work. “To a large extent, African populations, diseases of interest to Africans, and African scientists were not being included in genomic studies," said Dr. Jennifer Troyer of the National Human Genome Research Institute (NHGRI).

To remedy this, members of the African Society of Human Genetics approached the NIH and Wellcome Trust to discuss scientific leadership of research projects exploring the genetic contributors to regional diseases. H3Africa was born. A year later its first awards were granted.

Flash forward to 2022. H3Africa has funded 51 projects and spawned a consortium with multiple sites—primary sites, lab sites, collection sites, and analysis sites all using common protocols and capabilities—in different countries across the continent. The H3Africa Consortium comprises 500 members and 445 trainees in more than 30 countries. Notable achievements include 100,338 participants recruited for studies, 50,000 samples genotyped, 26 core phenotypes identified, 2,062 workshops/meetings held, and nearly 700 papers published.

In addition to standing up computing infrastructure across the continent, the consortium created three regional biorepositories—in Nigeria, Uganda, and South Africa—that share common methodologies and house DNA samples. One of the most requested datasets is from a whole-genome sequencing analyses of 426 individuals comprising 50 ethnolinguistic groups (including previously unsampled populations). The research team on this project uncovered more than three million previously unknown variants, described in a Nature article, High-depth African genomes inform human migration and health. Resources and archives from H3Africa studies are accessible to researchers via H3ABionet.

H3Africa working groups, which established policies and guidelines for member scientists, had a particularly strong impact. "In some cases, these guidelines for genomic research, consent, community engagement, and feedback of findings have informed or been adapted for national policies within Africa,” explained Troyer. H3Africa also developed research tools and products available to scientists, including a genotyping array for capturing and tagging African variation.

Throughout the H3Africa program, NHGRI and Fogarty staff led a team of dedicated program directors from across the NIH. Fogarty's seminal H3Africa project, the Global Health Bioinformatics Research Training Program, was created to support African institutions develop genomics research capacity. Recent headline scientists from H3Africa include Dr. Charles Rotimi, a driving force behind H3Africa and now scientific director at NHGRI; Dr. Ambroise Wonkam, one of the program’s PIs, world-renown geneticist and sickle cell disease expert, and recently appointed director of the Department of Genetic Medicine and the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins; and Dr. Christian Happi, also an H3Africa PI, director of the African Center of Excellence for Genomics of Infectious Diseases at Redeemer's University in Nigeria and the first African scientist to sequence an African SARS-CoV-2 genome. “One of the outcomes we’re most proud of is the highly-trained workforce that has been developed across Africa with cutting-edge skills in genomics research and analysis plus responsible sample and data management,” said Troyer.

As H3Africa nears conclusion, the original aims of the program—to identify genetic and non-genetic factors that contribute to diseases and individual responses to medications while increasing collaboration between African researchers—have largely been met. While there have been delays due to COVID-19, productivity past the designated end of the program and no-cost-extensions are expected. Overall sustainability is also anticipated. H3Africa investigators are now contributing to other NIH programs, including NHGRI's Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium and the Common Fund's Harnessing Data Science for Health Discovery and Innovations in Africa program (DS-I Africa), as well as obtaining research grants through NIH and other international funders.

Illustration: Map of the African continent showing the H3Africa site locations in 30 countries.Photo courtesy of Dr. Jennifer Troyer/NHGRIH3Africa consortium sites in 30 countries spanning the continent

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Updated April 19, 2022

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