Council of Councils Meeting
Harnessing Genomic Technologies Toward Improving Health in Africa: Opportunities and Challenges
Recommendations for the Human Heredity and Health (H3Africa) Initiative to the Wellcome Trust and the National Institutes of Health
The white paper is a community-generated document outlining the opportunities and challenges for the National Institutes of Health (NIH) and the Wellcome Trust (WT) in creating a genomics-focused, population-based research initiative in Africa. This document discusses problems and solutions for the Human Heredity and Health in Africa (H3Africa) Initiative identified by senior African scientists and others that have worked extensively on the continent.
Background
The peoples of Africa suffer a disproportionate burden of avoidable illness. This disease burden results primarily from widespread poverty, compounded by very limited access to modern health care. Although communicable diseases are the major causes of morbidity and mortality among African peoples, non-communicable diseases are assuming growing importance. The World Health Organization’s (WHO) Millennium Development Goals have brought welcomed attention to Africa’s ongoing health crisis and mainly emphasize basic poor health indicators related to women and children; the WHO Global Burden of Disease Study has demonstrated high mortality rates across the age and gender spectra. Differences in disease prevalence between countries, geographic regions within a country, and ethnic groups in the same geographic region are the result of a combination of human genomic and environmental factors. Recent advances in the capacity to link genetic variation to disease predisposition are providing important clues to disease pathogenesis and, over the coming decade, are expected to assume an important role in informing the prediction, diagnosis, monitoring, and treatment of many conditions. However, African researchers and populations are substantially underrepresented within this increasingly global research endeavor. The failure to adequately engage Africa and African researchers and scientists in genetics and genomics research limits overall scientific progress, scientific and economic development on the continent, and the capacity for the research to address health questions of particular importance to African and African diaspora populations.
If we are to understand the basis of disease, there is much to be gained by the development and integration of genomic, epidemiologic, and clinical research in Africa and elsewhere. The genetic diversity of African populations, from which modern human populations originate, makes a strong argument for substantial scientific investment to study genetics and health in Africa on the basis that this will contribute to improvement in the health prospects of humans across the globe.
The Role of H3Africa
The Human Heredity and Health in Africa (H3Africa) Initiative was born out of a partnership among the African Society of Human Genetics (AfSHG), the Wellcome Trust (WT) (United Kingdom), and the National Institutes of Health (NIH) (United States). In conjunction with the AfSHG meeting in Yaounde, Cameroon, in March 2009, scientific experts of diverse backgrounds met with the goal of identifying the major scientific, ethical, and practical issues pertaining to the development of a large-scale genomics research program in Africa. The H3Africa Communicable and Non-communicable Diseases Working Groups, which were established following this meeting, have formulated this white paper to support the mission of creating and sustaining a network of African centers that will provide training, research, and clinical services that are based on the implementation of state-of-the-art genomics approaches. By supporting infrastructure development, training, and specific research projects, H3Africa will catalyze genomics research concerning human diversity and disease biology that will be of particular relevance and benefit to African populations and societies. Further development of this agenda and preparation of this white paper were pursued at a meeting in Oxford, United Kingdom, in August 2010.
The importance of genomics and biotechnology to Africa’s development was highlighted in the 2007 report by the New Partnership for Africa’s Development (NEPAD) and the African Union (AU), which states that “Development for any nation or region needs minimum capacity in at least three areas: (I) Infrastructure to support science, technology and innovation; (II) Human resources, training and education in science and technology; and (III) Public awareness of—and engagement in—science and technology.”
The two H3Africa Working Groups have diligently conceived specific recommendations that heed these principles espoused by the NEPAD, the AU, and other organizations with extensive experience in Africa. Below are aspirations for H3Africa articulated in synopses of the ethos and vision as well as abbreviated versions of the recommendations that the H3Africa Working Groups discussed and confirmed during the Oxford meeting.
Ethos and Vision for H3Africa
Ethos
The central ethos of the H3Africa Initiative is the development of a sustainable, collaborative African research enterprise that will generate improvements in health. Through the resourcing, training, and networking of African scientists, high-quality research in human genomics will be designed to address questions of particular medical and scientific importance to Africans.
Vision
H3Africa’s vision is the establishment of a viable, productive clinical and research infrastructure, through combined leveraging of capacity, expertise, and infrastructure within existing institutions and investing in new centers of excellence. This new infrastructure will require investment in capacity development (i.e., training of clinicians and researchers). Sustainability should be ensured through strong links with European, U.S., and other international collaborators and institutions. The “hub and spoke model” will enable the co-development of specialist regional “nodes” within a wider network of participation.
Recommendations for H3Africa
Resource Development
The development of resources (including human capital) for H3Africa should focus on (but not be limited to) clinical phenotyping; sample collection and biobanking; genomic analysis (genotyping, sequencing); bioinformatics; statistics; functional analysis; and ethical, legal, and social issues (ELSI) research. The organizational structures required for each of these are likely to differ (e.g., sample collection and phenotyping will inevitably be more widely distributed than large-scale genomic analysis).
Infrastructure
H3Africa should develop an infrastructure and programs that support epidemiologically and ethically sound project designs resulting in large-scale ascertainment and recruitment of individuals and the collection of biological samples and related phenotypic data. Currently, few centers in Africa are equipped to take care of patients and undertake large-scale sample collection. Existing centers have limited capacities for sample storage, and H3Africa will need to establish biorepositories for the storage, retrieval, distribution, and management of large sample collections. Transportation limitations within Africa suggest that these biorepositories should be established at the regional level. This infrastructure also should include a shared resource environment of clinical standard operating procedures for phenotypic consistency, research protocols, and high-throughput technology platforms. Access to finite samples will need to be managed so as to ensure equipoise between the interests of collectors and the wider research community. H3Africa should provide a technological infrastructure (units/centers of excellence) for genetic and genomic data generation and analysis that enables investigators to accomplish clinical research in the African context and to foster collaborations within the African scientific community.
Education and Training
H3Africa should support the training of Africans in the fields of genetic epidemiology, bioinformatics, statistical analysis, high-throughput technologies, genomic data analysis, clinical research, and ELSI research to address current disparities in expertise and enable African researchers to participate fully in the generation, interpretation, and utilization of data and discoveries from the samples donated. Given that effort in modern genomics is increasingly computational (i.e., manipulation, interpretation, and analysis of data), the development of capacity in these areas is of paramount importance. Training should be developed in close collaboration with non-African institutions to leverage existing non-African expertise and transfer it to African researchers in a consistent and sustainable manner. Non-African institutions and laboratories (in particular those of African diaspora scientists) should be able to work with H3Africa to build capacity by hosting training visits for African researchers and clinicians and by supporting genomics research and practice within Africa through mentorship and training linked to existing and new educational programs. H3Africa should maintain a database of African graduates from pertinent disciplines and support collaborations to develop African scientists, with a view to achieving long-term sustainability in Africa.
Population/Health/Disease Foci
H3Africa should provide sufficient support for focused research projects that address major areas of scientific and medical importance. These are likely to include studies of comprehensive human genetic diversity in Africa, as well as studies to understand patterns of predisposition to selected communicable and non-communicable diseases. It seems likely that maximal efficiency for H3Africa investment will require some degree of integration and coordination of infrastructure development and specific research projects. We suggest that the NIH and the WT consider a Funding Opportunity Announcement structure to solicit collaborative proposals for specific research projects and/or infrastructure development that are consistent with H3Africa principles.
Ethical, Legal, and Social Issues
H3Africa should ensure not only that the projects performed meet the highest ethical, legal, and socially appropriate standards for research but also that explicit support is provided for the training of African researchers and that research addresses the particular challenges of genomics research in Africa (and in low- to middle-income countries in general). H3Africa must invest in improving the general knowledge of genomics among African communities, identifying traditional knowledge and cultural practices around which new concepts in genomics can be built for integration into the understanding of African populations, supporting the development of guidelines for the regulatory aspects of genomics research and its use, and developing tools to enhance the understanding and use of new products of genomics research by the population. One key issue that must be addressed is the extent to which H3Africa projects should support the provision of clinical care for research participants (particularly where those projects involve case discovery). With regard to the ongoing issue of inequities in collaborative efforts, H3Africa should seek to develop models for ethical collaboration and data sharing that overcome current limitations to collaboration between researchers and to support equitable access to the data generated by H3Africa (and other) projects. Policies for data release and publication need to be developed so that African researchers gain full credit for their endeavors and are able to play leading roles in the analysis of the data generated and in the followup of the findings.
The Future of H3Africa
The model proposed for H3Africa seeks to position Africa not only as a vital resource for genetic and genomic data collection but also as the recognized scientific hub for the initiation and full implementation of modern genetic and genomics research in African populations. The success of H3Africa depends largely on the provision of adequate resources and infrastructure for African scientists to lead scientific inquiries to improve the health of African populations. In this endeavor, African scientists will be empowered to determine the circumstances of investigations, including sample transport and analysis within Africa, or to establish collaborations for external analysis. This emphasizes a preference for samples and other resources to remain within Africa for analysis, given suitable sustainable infrastructure. However, this model not only does not exclude but also encourages collaborations for continual analysis outside of Africa, with the expectation that these collaborations should be at the discretion of African scientists and complement the infrastructure developments that H3Africa will achieve. Although this is a bold step, which if executed properly will be significantly favorable to the development of genomics research in Africa, the vision is that the powerful instrument of genomics will prime human health-related research in Africa in a large and well-organized way. It is envisioned that this investment will attract the support of researchers in all areas of biodiversity, other international agencies, and African governments. In due course, the impact will be more far reaching than human health and disease, perhaps most notably in biotechnology.