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Pharmacogenomics, personalized medicine and global health are hot topics. They represent enormously active areas of research and development (R&D) and are situated at the epicenter of the genomics innovation and investment agenda, both in developed and resource-limited countries [3]. The theme of “personalization” is taking on global significance in healthcare, not only in the case of drug therapy but also for other interventions such as vaccines and nutrition as well as targeted diagnostics and screening programs for early disease detection and preventive medicine. A fine example of the latter includes testing for deleterious mutations in

1Research Group on Complex Collaboration, Faculty of Management, McGill University 2Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada 3Data-Enabled Life Sciences Alliance International (DELSA Global), Seattle, WA, USA 4Development Policy and Practice, The Open University, Walton Hall, Milton Keynes, UK 5The ESRC Centre for Social and Economic Research on Innovation in Genomics (Innogen Centre), Milton Keynes, UK 6Columbia Law School – LL.M. Program, New York, NY, USA 7Auckland Cancer Society Research Centre, Faculty of Medical and Health Sciences (FM&HS), The University of Auckland, Auckland, New Zealand 8Discipline of Nutrition, FM&HS, The University of Auckland, Auckland, New Zealand 9Nutrigenomics New Zealand, New Zealand 10Laboratory of Pharmacology, Medical School, Democritus University of Thrace, Alexandroupolis, Greece 11Clinical Pharmacology Unit, Academic General Hospital of Alexandroupolis, Alexandroupolis, Greece 12European Society of Pharmacogenomics and Theranostics 13L.C. Campbell Cognitive Neurology Research Unit, Sunnybrook Research Institute, Department of Medicine (Neurology), Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada 14Faculty of Private Law, University of Cape Town, Cape Town, South Africa 15Department of Genetics, Stellenbosch University, Stellenbosch, South Africa 16Wadhwani Research Center for Biosciences and Bioengineering, Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai, India

South Africa, like many other developing countries, stands to benefit from novel diagnostics and drugs developed by pharmacogenomics guidance due to high prevalence of disease burden in the region. This includes both communicable (e.g., HIV/AIDS and tuberculosis) and non-communicable (e.g., diabetes and cardiovascular) diseases. For example, although only 0.7% of the world's population lives in South Africa, the country carries 17% of the global HIV/AIDS burden and 5% of the global tuberculosis burden. Nobel Peace Prize Laureate Archbishop Emeritus Desmond Tutu has coined the term Rainbow Nation, referring to a land of wealth in its many diverse peoples and cultures. It is now timely and necessary to reflect on how best to approach new genomics biotechnologies in a manner that carefully considers the public health needs and extant disease burden in the region. The aim of this paper is to document and review the advances in pharmacogenomics in South Africa and importantly, to evaluate the direction that future research should take. Previous research has shown that the populations in South Africa exhibit unique allele frequencies and novel genetic variation in pharmacogenetically relevant genes, often differing from other African and global populations. The high level of genetic diversity, low linkage disequilibrium and the presence of rare variants in these populations question the feasibility of the use of current commercially available genotyping platforms, and may partially account for genotype- phenotype discordance observed in past studies. However, the employment of high throughput technologies for genomic research, within the context of large clinical trials, combined with interdisciplinary studies and appropriate regulatory guidelines, should aid in acceleration of pharmacogenomic discoveries in high priority therapeutic areas in South Africa. Finally, we suggest that projects such as the H3Africa Initiative, the SAHGP and PGENI should play an integral role in the coordination of genomic research in South Africa, but also other African countries, by providing infrastructure and capital to local researchers, as well as providing aid in addressing the computational and statistical bottlenecks encountered at present.

Vural Ozdemir1,*, Erik Fisher2, Edward S. Dove1, Hilary Burton3, Galen E. B. Wright4, Mario Masellis5,*, and Louise Warnich4,* 1Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada 2School of Politics and Global Studies, Consortium for Science, Policy & Outcomes, Center for Nanotechnology in Society, College of Liberal Arts and Sciences, Arizona State University, Tempe, AZ, USA 3Foundation for Genomics and Population Health, 2 Worts Causeway, Cambridge, UK 4Department of Genetics, Stellenbosch University, Stellenbosch, South Africa 5L.C. Campbell Cognitive Neurology Research Unit, Sunnybrook Research Institute, Department of Medicine (Neurology), Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, Canada