This project is called the Human Heredity and Health in Africa, and designated H3Africa.
Organized to enable African researchers to carry out large-scale studies on African populations, H3Africa will make use of state-of-the art genomic technologies, in combination with clinical and environmental analyses, with the aim of understanding the interaction of genes and the environment in health and disease. As part of this H3Africa will create new research capabilities in Africa by enhancing infrastructure and supporting pan- African collaborations, as well as collaborations with researchers in the United States and Europe when appropriate.
In the last few years there have been a number of studies which have looked at variation in the human genome and identified genetic risk factors for common diseases such as diabetes and obesity. To date these have mainly focused on North American and European populations, but studies such as the International HapMap Project, have shown that African populations carry the oldest, most diverse set of human genes. The studies which H3Africa will support will relate genetic variation in these populations to clinical findings and environmental information, Understanding this variation is key to informing strategies for prevention and treatment, both at the individual and population level.
Initially, H3Africa will support two pilot studies. The role of genetic variability in infectious diseases is not fully understood, so one set of studies will focus on the interactions between disease-causing micro-organisms and human hosts. The second will investigate a non-communicable disease, such as hypertension, stroke, heart disease, diabetes or cancer, all of which are becoming widespread in Africa populations. H3Africa will seek to understand the interaction between genetic susceptibilities and environmental changes — such as diet — that may be leading to the increased incidence of these diseases.
H3Africa will support studies investigating the effects of potential gene-environment interactions on health. This will inform public health policies and guidelines. Environmental factors under study could include nutrition, pollutants and lifestyle factors.
H3Africa will support multidisciplinary research teams comprised of a range of experts, including geneticists, clinicians, physiologists, bioinformaticians and social scientists. Genomic tools will likely include genotyping chips used in genome-wide association studies, sequencing of all the genes in the human genome (called exome sequencing) and eventually, whole genome sequencing; the data produced will be analyzed by state-of-the-art bioinformatics tools. Accurate clinical diagnosis will be critical, and where appropriate detailed information on lifestyle and environmental exposures will be obtained.
Although H3Africa is intended to build capacity in Africa, it may be that early studies will rely on existing genome facilities in Africa, the United States and the United Kingdom. As the project moves forward, we expect that adequate genotyping and sequencing capacity will be developed in Africa.
H3Africa is funded by a partnership between the U.S. National Institutes of Health, an agency of the U.S. Department of Health and Human Services, and the Wellcome Trust, a global charity based in London, U.K. NIH has committee $5 million a year for five years starting in fiscal year 2011, a total of $25 million. Wellcome Trust will contribute $12 million over that period.
The African Society of Human Genetics will participate as a non-funding partner. It has served an organizing role for H3Africa and will continue to provide an educational and organizational forum for the project among genetic scientists in Africa.
NIH and the Wellcome Trust are still working on the managerial aspects of the partnership.
Both NIH and the Wellcome Trust have established mechanisms for awarding grants, contracts and cooperative agreements between the funding institutions and individual researchers or groups of researchers. Existing mechanisms will be employed to ensure a fair and transparent competition process for awarding research funding.
The African Society of Human Genetics (AfSHG) has played an essential organizing role that led to the development of H3Africa. AfSHG is a professional society of genetic researchers and health care providers across the continent and it serves as a convener for meetings to organize the genetic research community. In 2007 and 2009, AfSHG organized two meetings, in Egypt and Cameroon, to advance the idea of a project that evolved into H3Africa.
Researchers will be expected to engage in community consultation with those in the study, especially in studies with cohorts that will be revisited often. The goal is to help communities understand that H3Africa is here for the long term and that it will have an impact on their health, but it is unlikely that the consultation will be as extensive as that for HapMap.
Developing plans envision H3Africa eventually creating a bio-repository somewhere in Africa for biological samples collected from populations in Africa. Until sufficient infrastructure is created to both manage and analyze samples, they may be sent for processing and analyses elsewhere. But the samples only will leave Africa for the purposes of collaboration with other researchers; African researchers will always be involved and will retain responsibility for the samples. Samples will not simply be collected and shipped out for others to use.