Introduction [Preventive and predictive genetics : towards personalised medicine]

Abstract

Genetics evolved rapidly in the past decade, characterising genes that directly cause specific traits in monogenic diseases, as well as modifier genes that are associated with specific disorders but are not sufficient for causality, rather work in concert with additional gene and environmental factors to elicit the disease, mostly referred to as susceptibility genes. The science has also evolved from bench and lab discoveries to bedside implementations and further gathered momentum as knowledge acquired about allele and genotype frequencies in specific populations (via epidemiological studies) resulting in effective genetic disease prevention programmes. In parallel, numerous polymorphisms have by now been characterised and often formulated into drug labels, which play a role in the pharmacokinetics and pharmacodynamics of available therapeutics, predicting the efficacy of drugs in patients, and minimising the occurrence of drug adverse reactions.