Development of a novel, fully-automated genotyping system: principle and applications

Genetic testing prior to treatment, pharmacogenetic analysis, is key to realizing personalized medicine which is a topic that has attracted much attention recently. Through the optimization of therapy selection and dosage, a reduction in side effects is expected. Genetic testing has been conducted as a type of pharmacogenetic analysis in recent years, but it faces challenges in terms of cost effectiveness and its complicated procedures. Here we report on the development of a novel platform for genetic testing, the i-densy™, with the use of quenching probe system (QP-system) as principle of mutant detection. The i-densy™ automatically performs pre-treatment, PCR and detection to provide the test result from whole blood and extracted DNA within approximately 90 and 60 min, respectively. Integration of all steps into a single platform greatly reduces test time and complicated procedures. An even higher-precision genetic analysis has been achieved through the development of novel and highly-specific detection methods. The applications of items measured using the i-densy™ are diverse, from single nucleotide polymorphism (SNP), such as CYP2C19 and UGT1A1, to somatic mutations associated with cancer, such as EGFR, KRAS and JAK2. The i-densy™ is a useful tool for optimization of anticancer drug therapy and can contribute to personalized medicine.