Pharmacogenetics in Laboratory Diagnostics

Pharmacogenetics (PGt) is a fast evolving field in medical science, since adverse drug reactions (ADR) and therapy failure may be due to variations in the genes of drug metabolizing enzymes, drug transporters and drug targets. There are many different techniques available for the detection of mutations, Single Nucleotide Polymorphisms (SNPs) and gene copy number variations (CNVs) that allow the scientist to apply the best suited method for defined diagnostic questions. This article reviews some of the most important genes of pharmacogenetic relevance, gives an overview of several methods frequently used for genotyping and provides insight into routine pharmacogenetic testing in the clinical laboratory.