The promise of pharmacogenomics (PGx) is that the use of an individual’s’ genetic information would help to predict drug response and further guide optimal drug and dose selection to enable safer, more effective, and cost-effective treatment.
Targeted genotyping assays probe for preselected variants with well-defined drug-gene interactions. ‘Ready-made’ commercial genotyping assays are often multiplexed PCR-based technologies.
Targeted genotyping assays offer robust interpretation well suited for automation of PGx reporting. The assays typically include well-studied pharmacokinetic and pharmacodynamic markers of the drug metabolizing enzymes (i.e., CYP2D6, CYP2C19, CYP3A5, DPYD, TPMT, and UGT1A1), selected drug transporters (SLCO1B1), receptors (VKORC1), and other genes associated with drug response.