The Emergence of Genomic Research in Africa and New Frameworks for Equity in Biomedical Research

Abstract

Individuals with African ancestry have the greatest genomic diversity in the world, yet they have been underrepresented in genomic research. To advance our under­standing of human biology and our ability to trace human history, we must include more samples from Africans in genomic research. Additionally, inclusion of more samples from participants of recent African descent is imperative to provide equitable health care as genomics is increasingly used for diagnosis, treatment, and to understand disease risk. The Human Heredity and Health in Africa initiative (H3Africa) seeks to expand the number of Africans included in genomic research and to do so by expand­ing the research capacity on the continent. In this article, we discuss how H3Africa is endeavoring to achieve these goals while promoting equitable research collabora­tions.Ethn Dis. 2019;29(Suppl 1):179-186; doi:10.18865/ed.29.S1.179

The GenomeAsia 100K Project enables genetic discoveries across Asia

“…In Africa, populations show complex genetic patterns, smaller blocks of linkage disequilibrium and higher levels of heterozygosity, which provides unique value for genetic studies. Across the continent, early reference genome datasets for diverse populations are being built as part of H3Africa and other studies 5,15 . A Korean reference genome as well as Japanese and Chinese reference genome datasets have been created, and the formation of large biobanks such as BioBank Japan 16 and the China Kadoorie Biobank 17 will accelerate the pace of discovery of disease associations across east Asia.…”

Evaluating the promise of inclusion of African ancestry populations in genomics

“…27 In appreciation of this obstacle faced by African researchers, and with an eye toward the elevation of researchers along with the increased inclusion of African samples, sustained capacity-building is a keystone of the H3Africa Initiative. 83 NeuroGAP has also established the Global Initiative for Neuropsychiatric Genetics Education in Research (GINGER), which will support the training of early-career investigators from the countries in which research is being conducted (Ethiopia, Kenya, South Africa, and Uganda). 84 The topics for training are determined through the participation of the fellows and their African mentors, so that their needs shape their experiences.…”

“…101 H3Africa has the formation of equitable collaborations, African researcher-led science, capacity building, and infrastructure development among its central tenets. 76,83 Capacity building on the continent addresses concerns related to exploitation and parachute research through concomitant ethics and governance mechanisms, such as those created by H3Africa. Additional questions related to benefit sharing, privacy, confidentiality, and group harm should also be examined with emphasis on concerns specific to African populations.…”

Strategic Partnerships to Advance Health Equity

“…Mokdad et al demonstrate how the burgeoning health metrics and big data from the Global Burden of Disease Study can inform and help advance health equity research at the global, regional, national, and sub-national levels. 24 Three articles in this journal sup- [25][26][27] Jooma et al caution that the anticipated benefits of genomic research come with the peril that the benefits may not be equitably available to all populations, thus potentially exacerbating health inequities. 25 The authors offer several strategies to help prevent this potential adverse outcome.…”

“…25 The authors offer several strategies to help prevent this potential adverse outcome. Bentley et al 26 share the exciting scientific developments in genomic research in Africa and make the case for why genomics research must be diverse, inclusive and respectful of local expertise. Roberts et al 27 use case study examples from heart disease and cancer to address current health inequities and related barriers in turning genomic advances into population health impact.…”