H3Africa is developing capacity for health-related genomics research in Africa

Funding bodies have recently introduced a requirement that data sharing must be a consideration of all funding applications in genomics. As with all new developments this condition has had an impact on scientific practice, particularly in the area of publishing and in the conduct of research. We discuss the challenges that must be addressed if the full benefits of data sharing, as envisaged by funders, are to be realized.

BackgroundSeeking consent for genetic and genomic research can be challenging, particularly in populations with low literacy levels, and in emergency situations. All of these factors were relevant to the MalariaGEN study of genetic factors influencing immune responses to malaria in northern rural Ghana. This study sought to identify issues arising in practice during the enrolment of paediatric cases with severe malaria and matched healthy controls into the MalariaGEN study.MethodsThe study used a rapid assessment incorporating multiple qualitative methods including in depth interviews, focus group discussions and observations of consent processes. Differences between verbal information provided during community engagement processes, and consent processes during the enrolment of cases and controls were identified, as well as the factors influencing the tailoring of such information.ResultsMalariaGEN participants and field staff seeking consent were generally satisfied with their understanding of the project and were familiar with aspects of the study relating to malaria. Some genetic aspects of the study were also well understood. Participants and staff seeking consent were less aware of the methodologies employed during genomic research and their implications, such as the breadth of data generated and the potential for future secondary research.Moreover, trust in and previous experience with the Navrongo Health Research Centre which was conducting the research influenced beliefs about the benefits of participating in the MalariaGEN study and subsequent decision-making about research participation.ConclusionsIt is important to recognise that some aspects of complex genomic research may be of less interest to and less well understood by research participants and that such gaps in understanding may not be entirely addressed by best practice in the design and conduct of consent processes. In such circumstances consideration needs to be given to additional protections for participants that may need to be implemented in such research, and how best to provide such protections.Capacity building for research ethics committees with limited familiarity with genetic and genomic research, and appropriate engagement with communities to elicit opinions of the ethical issues arising and acceptability of downstream uses of genome wide association data are likely to be important.

BackgroundGenome-wide association studies (GWAS) provide a powerful means of identifying genetic variants that play a role in common diseases. Such studies present important ethical challenges. An increasing number of GWAS is taking place in lower income countries and there is a pressing need to identify the particular ethical challenges arising in such contexts. In this paper, we draw upon the experiences of the MalariaGEN Consortium to identify specific ethical issues raised by such research in Africa, Asia and Oceania.DiscussionWe explore ethical issues in three key areas: protecting the interests of research participants, regulation of international collaborative genomics research and protecting the interests of scientists in low income countries. With regard to participants, important challenges are raised about community consultation and consent. Genomics research raises ethical and governance issues about sample export and ownership, about the use of archived samples and about the complexity of reviewing such large international projects. In the context of protecting the interests of researchers in low income countries, we discuss aspects of data sharing and capacity building that need to be considered for sustainable and mutually beneficial collaborations.SummaryMany ethical issues are raised when genomics research is conducted on populations that are characterised by lower average income and literacy levels, such as the populations included in MalariaGEN. It is important that such issues are appropriately addressed in such research. Our experience suggests that the ethical issues in genomics research can best be identified, analysed and addressed where ethics is embedded in the design and implementation of such research projects.

Similarity between two individuals in the combination of genetic markers along their chromosomes indicates shared ancestry and can be used to identify historical connections between different population groups due to admixture. We use a genome-wide, haplotype-based, analysis to characterise the structure of genetic diversity and gene-flow in a collection of 48 sub-Saharan African groups. We show that coastal populations experienced an influx of Eurasian haplotypes over the last 7000 years, and that Eastern and Southern Niger-Congo speaking groups share ancestry with Central West Africans as a result of recent population expansions. In fact, most sub-Saharan populations share ancestry with groups from outside of their current geographic region as a result of gene-flow within the last 4000 years. Our in-depth analysis provides insight into haplotype sharing across different ethno-linguistic groups and the recent movement of alleles into new environments, both of which are relevant to studies of genetic epidemiology.DOI: http://dx.doi.org/10.7554/eLife.15266.001

Introduction and methodAfrica is currently host to a number of international genomics research and biobanking consortia, each with a mandate to advance genomics research and biobanking in Africa. Whilst most of these consortia promise to transform the way international health research is done in Africa, few have articulated exactly how they propose to go about this. In this paper, we report on a qualitative interviewing study in which we involved 17 genomics researchers in Africa. We describe their perceptions and expectations of international genomics research and biobanking initiatives in Africa.ResultsAll interviewees were of the view that externally funded genomics research and biobanking initiatives in Africa, have played a critical role in building capacity for genomics research and biobanking in Africa and in providing an opportunity for researchers in Africa to collaborate and network with other researchers. Whilst the opportunity to collaborate was seen as a benefit, some interviewees stressed the importance of recognizing that these collaborations carry mutual benefits for all partners, including their collaborators in HICs. They also voiced two major concerns of being part of these collaborative initiatives: the possibility of exploitation of African researchers and the non-sustainability of research capacity building efforts. As a way of minimising exploitation, researchers in Africa recommended that genuine efforts be made to create transparent and equitable international health research partnerships. They suggested that this could be achieved through,: having rules of engagement, enabling African researchers to contribute to the design and conduct of international health projects in Africa, and mutual and respectful exchange of experience and capacity between research collaborators. These were identified as hallmarks to equitable international health research collaborations in Africa.ConclusionGenomics research and biobanking initiatives in Africa such as H3Africa have gone some way in defining aspects of fair and equitable research collaborations in Africa. However, they will need to strive at achieving equitable health research collaborations if they truly aim at setting a gold standard for how international health research should be conducted in Africa.

BackgroundCommunity engagement has been recognised as an important aspect of the ethical conduct of biomedical research, especially when research is focused on ethnically or culturally distinct populations. While this is a generally accepted tenet of biomedical research, it is unclear what components are necessary for effective community engagement, particularly in the context of genomic research in Africa.MethodsWe conducted a review of the published literature to identify the community engagement strategies that can support the successful implementation of genomic studies in Africa. Our search strategy involved using online databases, Pubmed (National Library of Medicine), Medline and Google scholar. Search terms included a combination of the following: community engagement, community advisory boards, community consultation, community participation, effectiveness, genetic and genomic research, Africa, developing countries.ResultsA total of 44 articles and 1 thesis were retrieved of which 38 met the selection criteria. Of these, 21 were primary studies on community engagement, while the rest were secondary reports on community engagement efforts in biomedical research studies. 34 related to biomedical research generally, while 4 were specific to genetic and genomic research in Africa.ConclusionWe concluded that there were several community engagement strategies that could support genomic studies in Africa. While many of the strategies could support the early stages of a research project such as the recruitment of research participants, further research is needed to identify effective strategies to engage research participants and their communities beyond the participant recruitment stage. Research is also needed to address how the views of local communities should be incorporated into future uses of human biological samples. Finally, studies evaluating the impact of CE on genetic research are lacking. Systematic evaluation of CE strategies is essential to determine the most effective models of CE for genetic and genomic research conducted in African settings.

Large-scale studies of genomic variation could assist efforts to eliminate malaria.