Pharmacogenomics-based clinical studies using a novel, fully automated genotyping system

Clinical investigations into single nucleotide polymorphisms (SNPs) in drug metabolism have already been set out for clinical trials in subject groups classified as extensive metabolizers or poor metabolizers. In particular, the frequency of CYP2C19 in poor metabolizers within the Japanese population is relatively high, and genetic variations result in differences in kinetics and pharmacological action, e.g. clinical response to proton pump inhibitors which are mainly metabolized by 2C19 in the liver. We introduced a novel, fully automated genotyping system and used it in the genotyping of CYP2C19. The completed system is based on the analysis of a melting curve of probe DNA which is bound to the target SNP site using a fluorescence quenching probe. The system enables automated and multiple SNP-genotyping from sample preparation. This fully automated system of analysis can be adapted to clinical studies, e.g. classification of genes related to pharmacokinetics and target receptors by genetic variations.