Pharmacogenetics is aimed at elucidating the influence of genetic variations on drug response. Genetic variations, of which single-nucleotide polymorphisms are the most
common, can affect gene expression and thereby cause alterations in protein expression level, structure and function. Thus, functional polymorphisms in drug metabolising
enzymes, transporters and targets can potentially alter the pharmacokinetics and pharmacodynamics of drugs. It should therefore come as no surprise that these variations
have been shown to contribute substantially to the inter-individual variability in drug efficacy and toxicity that plagues current clinical practice. The promise of
pharmacogenetics thus lies in its potential to identify clinically significant genetic variations that can account for phenotypic variations in drug response and, in so doing,
enable genotype-guided optimisation of pharmacotherapy and drive the paradigm shift towards personalised medicine.
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