As argued in preceding sections, the endeavor to include South African populations in future genomic research is vital for the successful application of pharmacogenomics within the country. It is important though that individuals and communities consenting to partake in research are recognized as key partners and not merely as resources for the research. Furthermore, they should be protected from potentially negative outcomes emanating from these studies.
Ethical and social challenges encountered with genomic/pharmacogenomic research in South Africa are very similar to those encountered by other developing countries [111
]. Practical issues such as language barriers should also be considered, and to enable proper communication between researchers and participants, the latter should receive comprehensive information and informed consent documents in their home language, particularly if they are not fluent in a second language. Furthermore, researchers should be sensitive and respectful to social and cultural differences between communities and should incorporate the customs and beliefs of the participants into their research design [112
To quote Nhlanhla Mhkize [113
], “Investigators, therefore, must understand that traditional conceptions of medicine and disease employ dual understandings”, including both “physical and psychic components”. In South Africa it has been estimated that approximately 80% of the population visit the 200,000 to 350,000 traditional healers practicing in the country [114
]. Although indigenous medicine may be perceived to conflict with “western” medicine, traditional healers are a highly valuable asset to the country. Researchers from the University of KwaZulu-Natal have initiated a program to train traditional healers in HIV prevention, counseling and care [115
]. Thus, by harnessing the abilities of traditional healers to bridge cultural gaps between western and African customs and medicine, a much needed and trusted source of emotional/spiritual care for terminally ill patients is provided, which works in unison with a western therapeutic approach. By using regional social structures and systems as channels of communication between researchers and participants, community engagement is encouraged. This should also help to create a “sense of research ownership by the communities” [116
]. Although much can be learnt from projects such as HapMap 1/2/3 [106
] and MalariaGen [117
] regarding the ELSI surrounding genomics research in a developing world context, every research project will bring its unique challenges, and ELSI should therefore feature strongly on the agenda of any genomic/pharmacogenomic research project.
As has already been highlighted by this article, South Africa is a country which is rich in cultural and genetic diversity. However, coupled with the obvious benefits associated with this diversity, is the potential for exploitation, particularly since the human and technological resources that are required to analyze this material on a grand (genomic) scale still remain underdeveloped in the country. This situation is aggravated by limited national legislation governing the harvesting, storage, analysis and export of human genetic/genomic material [118
The notion of genomic sovereignty is rapidly gaining prominence in the local and international community and its inclusion in both local and international legislation is seen as an urgent requirement to prevent exploitation of the populations that are being researched by those from outside the country. Genomic sovereignty is the capacity of a people, a country or nation to own and to control both access to and use of, samples, data and knowledge concerning or emanating from genomic material [119
]. This definition pertains to genetic material of human, animal and plant origin. Two areas have been given particular attention, namely access and benefit sharing.
The notion of access defines the need for local populations to have access to data that is generated from their genetic/genomic material. The disease profile in South Africa is characterized by very specific ethnic/racial differences, including for example diabetes, obesity, hypertension and hyperlipidemia [7
]. Since the combination of local environmental conditions, coupled with genetic predisposition to certain diseases, will impact on the incidence/prevalence of the disease, it goes without saying that any genetic/genomic data that emerges from studies on indigenous populations should be made available to those populations to allow strategies for prevention, diagnosis and treatment of the relevant diseases to be developed. This in turn will affect public health policies and the attribution of national/health budgets in a more cost-effective manner.
The notion of benefit sharing requires that some form of financial or social benefit is returned to the population from which the genetic material was derived [125
]. Although benefit sharing arrangements may be complex and challenging, it is essential that both the communities and their governments are involved in these discourses [126
]. In South Africa, benefit sharing is covered in the case of plants and animals in Chapter 6 of the Biodiversity Act (no. 10 of 2004) [127
]. However, there is at present no reference in any South African legislation to the notion of benefit sharing (or to access for that matter) regarding human material. For many years, genetic material has been leaving South Africa to be analyzed outside of the country. In many cases, neither the principles of access or benefit sharing have been respected. With regard to the former, once data derived from this material is published in the public domain, it does become accessible. However, this is by default, and no specific attention is given to returning it to the community from which it was derived. This is particularly important when drug clinical trials have a significant pharmacogenomic component. In this case, a large amount of very important information is generated in laboratories outside the country, and very rarely does this find its way back into the country to be utilized for the benefit of the indigenous populations from which it was derived. Benefit may take the form of financial benefit, social benefit (housing, schools, healthcare facilities, etc
.) and also scientific capacity development.
What are the solutions to these problems? First, the notion of genetic sovereignty needs to be debated more widely in open public fora – both nationally and internationally. Lobby groups need to be formed to ensure that exploitation is prevented and that the principles of access and benefit sharing are respected.
Second, measures need to be put into place to regulate and monitor the flow of genetic/genomic material into and out of the country. Despite the current absence of specific legislation in this regard, regulation and monitoring can be achieved in two ways. This includes; (i) Research Ethics Committees insisting that these matters are given attention in projects that involve human genetic/genomic material, and (ii) the National Department of Health insisting on the same requirements in export permits that are issued for material that leaves the country. Currently applications for such permits require very little information.
Third, human capacity development is a critical issue that could be addressed as part of a benefit-sharing arrangement with companies/institutions/individuals that work on South African genetic/genomic material beyond our borders. One of the areas that requires particular attention is the development of bioinformatics skills, in order to address the computational and statistical bottlenecks associated with the analysis of the vast amounts of data generated from genomic research, which is seen as a national priority (National Biotechnology Strategy for South Africa [21
]). It is important that locally generated research is used to train South African scientists and that intellectual property is appropriately managed in order to build the required resources within the country.
Fourth, South Africa is currently revising the section (Chapter 8) of the National Health Act (no. 61 of 2003) which deals with “Control of use of blood, blood products, tissue and gametes in humans” [118
]. Chapter 8 has to date not been promulgated, and this part of the legislation is currently covered by the largely outdated Human Tissue Act (no. 65 of 1983) [128
]. The current process of revision should be used to address the legislative gap with respect to human genetic/genomic material.
Many of the recommendations listed above are of course transferable to other developing countries that are exposed to similar universal problems of unidirectional flow of information and potential exploitation. Thus, it is hoped that South Africa can in the future serve as a reference for developing countries for the successful implementation of ethical, legal and social considerations of genomic research.