Analysis of pharmacogenetic traits in two distinct South African populations

The field of pharmacogenomics aims to utilise the genetic composition of an individual to personalise therapeutic regimens and improve treatment outcomes. Most of the initial examples of the clinical utility of pharmacogenomics were elucidated for cancer treatments. Currently, however, there are more than 15 drugs used in the treatment of a variety of chronic diseases, such as cardiovascular disease, HIV/AIDS and seizures, for which the US Food and Drug Administration (FDA) recommends or requires pharmacogenomic testing to prevent drug-related toxicity or improve drug efficacy [1]. The increase in the number and breadth of drugs for which pharmacogenetic tests are recommended or required by the FDA is an indication of the important role that genetics plays in predicting treatment outcomes.In order for pharmacogenetic testing to have the most impact in as many people possible, it is important to understand which genetic variants are predictive of treatment outcomes in diverse populations. Most pharmacogenetics studies to date have been conducted in a limited number of population groups, most frequently in Western European and North American Caucasians. As a result of these limitations, genotype-to-phenotype correlates of drug response or toxicity for a number of drugs are clinically applicable in relatively few treated individuals. Furthermore, pharmacogenetic profiles characterised in Caucasians are often extrapolated for use and interpretation in other populations, in spite of at least two major problems with this method. First, it is clear that the population frequency of variants can differ markedly between populations, such as Caucasians. The differences in population frequencies of variant alleles has an impact on the clinical utility of pharmacogenetic testing, being more utilised in populations with a higher frequency of the variant allele than in populations in which the variant allele is rare. Secondly, ethnically specific variants exist in non-Caucasian po