Clinical SNP Detection by the SmartAmp Method

For advancing personalized medicine, it is important to incorporate pharmacogenomics data into routine clinical practice. The SmartAmp method enables us to detect genetic polymorphisms or mutations in target genes within 30–40 min without DNA isolation and PCR amplification. The SmartAmp method has been developed based on the concept that DNA amplification per se is the signal for the presence of a specific target sequence. Differing from the widely used PCR, the SmartAmp reaction is an isothermal DNA amplification, where the initial step of copying a target sequence from the template DNA is critically important. For clinical applications, we have created SmartAmp primers and clinical device that detect genetic polymorphisms of human genes involved in drug-induced toxicity or disease risk. This chapter addresses both the basic molecular mechanism underlying the SmartAmp method and its practical applications to detect clinically important single nucleotide polymorphisms (SNPs).