Human Heredity and Health in Africa: Frequently Asked Questions About H3Africa

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Human Heredity and Health in Africa: H3Africa

Frequently Asked Questions

Clinical research participants in Mali. Photo: Charles Rotimi
What is the name of this project?

This project is called Human Heredity and Health in Africa, and designated H3Africa.


Who are the partners in this effort and what is their role?

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 committed $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.


What is the goal of this project?

Organized to develop large-scale population studies by African researchers on African populations, H3Africa uses the new tools of genome research in combination with clinical and environmental analyses to understand the interaction of genes and the environment in health and illnesses. In addition, H3Africa is intended to create new research capabilities in Africa, both in terms of infrastructure and in the creation of new collaborations between African researchers and researchers in the United States and Europe. It also intends to foster collaborations between researchers in different parts of Africa.


What research techniques will be used by H3Africa?

H3Africa will employ a wide range of genetic and genomic tools, as well as work by clinicians, physiologists, bioinformaticians, and social scientists, as is appropriate for the studies selected for funding. 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. In addition, individual projects will carry out careful clinical analyses of study participants (blood pressure for hypertension studies, for example), as well as environmental and cultural assessments to understand non-genetic contributions to health and disease.


Where will the genomic and genetic tests be carried out?

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, leadership expects that adequate genotyping and sequencing capacity will be developed in Africa.


Why are genetic studies being carried out on African populations?

All humans trace their heritage to Africa, where humans first evolved and then migrated around the globe. Previous studies, such as the International HapMap Project, show that African populations have the greatest amount of genetic variability. Genetic variation between individuals has been shown to affect the risk of developing different diseases. By studying Africans populations with the greatest amount of genetic variation, especially in relation to clinical findings and environmental information, researchers expect to learn a great deal about the genetic roots of diseases that afflict Africans and other human populations across the globe.


What kinds of diseases will H3Africa study?

H3Africa will focus broadly on two types of diseases: communicable and non-communicable. 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. Non-communicable disease would include common disorders such as hypertension, stroke, heart disease, diabetes and 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 morbidity and mortality.


How many individuals will be involved in an H3Africa study?

Typically, studies that evaluate genetic predispositions for illness include a few thousand individuals. A typical genome-wide association study includes 1,000 individuals affected by a particular disorder and another 1,000 or so as a healthy control group for comparison. Some studies in H3Africa may involve 10,000 or more individuals.


Will Africans who participate in these studies derive any benefit?

Yes, Africans who participate in these studies will derive immediate and long-term benefits. Study participants will, in many cases, receive medical examinations and screening tests. If disease conditions are detected, the individual will be so advised and referred for medical care (though not necessarily provided by the study). Long-term benefits may be derived - both in Africa and in populations around the world - from the improved understanding of disease that leads to better diagnostics and treatments.


What do the research leaders hope to learn from genomic and environmental studies in African countries and their populations?

H3Africa will focus on both genes and environmental data in the expectation that it will lead to an understanding of how the interaction between both influences health and disease. Environmental factors could include more than just nutrition and pollution, but also include cultural, religious, political and other social factors that may influence health. African populations carry the oldest, most diverse set of human genes; H3Africa is an opportunity to see how old genes behave in different environments. H3Africa is an opportunity to see how old genes behave in different environments.


How will the partnership be managed?

NIH and the Wellcome Trust are still working on the managerial aspects of the partnership.


How will the funds be distributed?

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.


What is the role of the African Society of Human Genetics?

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.

Charles N. Rotimi, Ph.D., M.P.H., director of the Center for Research on Genomics and Global Health at the National Human Genome Research Institute, will provide scientific leadership for the NIH's portion of the partnership. Dr. Rotimi, born in Nigeria, is also president of the African Society for Human Genetics, which helped organize two working groups that will help guide the initiative.

The two working groups include: the Communicable Disease Working Group, led by Prof. Sekou F. Traore, Ph.D., from the University of Mali's Malaria Research and Training Center, in Bamako, Mali; and the Non-communicable Disease Working Group, led by Prof. Bongani M. Mayosi, D.Phil, chief of the Department of Medicine at the University of Cape Town, South Africa. Working group members represent medical research centers in many African countries including Cameroon, Ghana, Kenya, Mali, Nigeria, South Africa, Sudan, Tanzania and Tunisia. Organizing meetings are planned for August at Oxford University in the United Kingdom and later in the fall in Cape Town, South Africa. The groups must work through numerous challenging issues, including determining which African populations to study, deciding on which diseases to study, establishing research facilities, and selecting appropriate technologies.


Will the data collected by H3Africa be publically available in Internet-accessible databases for other scientists to use, as was the raw sequence data from the International Human Genome Project and soon to be available from the 1000 Genomes Project?

H3Africa is a community resource project; ultimately, all of the data will be made freely available in public databases. The speed with which the data is made public may vary from project to project, depending on the available resources, is subject to additional discussion and is yet to be defined.


Will African communities be consulted (as with the HapMap project) before individuals in the community are asked to participate in an H3Africa research project under this effort, or will only individual participants be asked to give informed consent?

In general, researchers will be encouraged 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 not expected that the consultation will be as extensive as HapMap.


Will biological samples — blood, DNA — be taken out of Africa?

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.

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Last Reviewed: July 24, 2012