title: Development of a novel, fully-automated genotyping system: principle and applications.
abstract: 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.
authors.affiliation: ARKRAY Inc., Kyoto 602-0008, Japan. suzukishu@arkray.co.jp
authors.forename: Shun-Ichi
authors.initials: S
authors.lastname: Suzuki
authors.forename: Mariko
authors.initials: M
authors.lastname: Komori
authors.forename: Mitsuharu
authors.initials: M
authors.lastname: Hirai
authors.forename: Norio
authors.initials: N
authors.lastname: Ureshino
authors.forename: Shinya
authors.initials: S
authors.lastname: Kimura
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics; D015374:Biosensing Techniques / Q000379:methods*; D065731:Cytochrome P-450 CYP2C19; D004247:DNA / Q000097:blood / Q000235:genetics; D005820:Genetic Testing; D060005:Genotyping Techniques; D014453:Glucuronosyltransferase / Q000235:genetics; D006801:Humans; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D000099148:UGT1A1 Enzyme
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; D065731:Cytochrome P-450 CYP2C19; D004247:DNA; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme; C045793:CYP2C19 protein, human