Pharmacogenetic Application of High-Throughput Mutation Detection and Genotyping Technologies

Pharmacogenetics is a scientific discipline that examines the genetic basis for individual variations in response to therapeutics. Pharmacogenetics promises to develop individualized medicines tailored to patients’ genotypes. However, identifying and genotyping a vast number of genetic polymorphisms in large populations also pose a great challenge. This article will address the recent technology developments in mutation detection and genotyping with a focus on genotyping single nucleotide polymorphisms (SNPs). Large-scale SNP association studies are becoming the method of choice to identify disease and drug response genes. However, the number of samples required by these studies demands a high-throughput genotyping resource. A wide variety of approaches have been developed to genotype SNPs in recent years including PCR and non-PCR based fluorescent genotyping technology, high-density oligonucleotide arrays, and chip-based matrix-assisted laser desorption ionization time-of flight mass spectrometry (MALDI-TOF-MS). With the improvement of these enabling technologies, pharmacogenetics will fundamentally change the practice of medicine by providing physicians with essential information to precisely prescribe the appropriate drug at the correct dose for each patient, and will provide enormous health benefits and cost savings to the public.