The goal of personalized medicine is to customize healthcare to the individual patient. Pharmacogenomics, the analysis of how a patient's genetic makeup affects the individual's response to certain drugs, plays a major role in the realization of personalized medicine. Pharmacogenomics studies the influence of genetic variation on the patient's drug response by correlating single-nucleotide polymorphisms (SNPs) with the drug's efficacy and/or toxicity, and therefore with the hope of optimizing drug therapy with respect to the patent's genotype, to ensure maximum efficacy with minimal adverse effects. Currently, most pharmacogenomic studies have been done using DNA chip arrays. A large amount of genetic information is generated in a cost effective way when using DNA chip arrays. However, one limitation of using this technology is that only a subset of mutations are analyzed and different manufacturers may use different SNPs to identify the same haplotype. Recent technological developments with next-generation sequencing (NGS) have enabled pharmacogenomics analysis at costs approaching to the cost of using DNA chip arrays. The advantage of using NGS is that all the SNPs corresponding to a haplotype can be analyzed. Currently, there are only a few targeting-sequencing kits for pharmacogenomics are commercially available. Because these kits may not cover some SNPs of interest, custom sequencing panels are needed to ensure that all interested SNPs are covered. This presentation will go over some of the important features of some commonly used targeted-enrichment technologies for NGS that are desirable for pharmacogenomic studies. This presentation will also highlight some of the challenges of developing and implementing pharmacogenomic NGS in a clinical laboratory for routine patient sample analysis.
Clinical Laboratory Scientist25%
Medical Laboratory Technician25%
Manufacturer - Other25%