05.02 Introduction to Pharmacogenetics

Pharmacogenetics, or pharmacogenomics as it is also known, is the study of the genetic basis for variation in drug response.  These genetic variations are often due to polymorphism, which is a variation in the DNA sequence that is present at a frequency of 1% or greater in a population.  Polymorphisms differ within human populations e.g. Caucasians, Chinese. These polymorphisms can be in enzymes, receptors, ion channels etc, and some examples are discussed below. For most polymorphisms, functional information is not available, as the study of pharmacogenetics is its infancy.  The ultimate goal of pharmacogenetics is to individualise drug treatments on the basis of individual genetics.