Pharmacogenomic research in South Africa : lessons learned and future opportunities in the rainbow nation
Date
2011-09
Authors
Warnich, Louise
Drogemoller, Britt I.
Pepper, Michael S.
Dandara, Collet
Wright, Galen E.B.
Journal Title
Journal ISSN
Volume Title
Publisher
Bentham Science
Abstract
ENGLISH ABSTRACT: 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 genotypephenotype
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.
Description
The original publication is available at http://www.benthamscience.com/openaccessplus.php?JCode=CPPM
Publication of this article was funded by the Stellenbosch University Open Access Fund.
Publication of this article was funded by the Stellenbosch University Open Access Fund.
Keywords
Disease burden, ELSI, Genomic technologies, Global health, Personalized medicine, Pharmacogenomics, Population genetic diversity, South Africa, Genomics biotechnology, Genomic research
Citation
Warnich, L. et al 2011, Pharmacogenomic research in South Africa : lessons learned and future opportunities in the Rainbow Nation. Current pharmacogenomics and personalized medicine, 9(3), 191-207.