Pharmacogenomics

Abstract

Pharmacogenomics (PGx) is the study of the relationship between genetic variations and how the body responds to medications. Along with precision medicine, PGx has expanded over the past 20 years to allow for the tailoring of drug selection and dosing based on a patient’s genetic features. PGx tests can sequence a patient’s entire genome or be targeted for a gene specific to a medication or disease state. These tests are utilized for many different classes of medications including chemotherapy, antidepressants, antiplatelets, and more. This chapter focuses on PGx tests related to the pharmacodynamic or pharmacokinetic properties of drugs related to germline or inherited mutations or polymorphisms. PGx testing can help anticipate or explain interpersonal variations in pharmacodynamic and pharmacokinetic responses to medications. Many FDA-approved medications have PGx testing annotations in the medication labeling including chemotherapy and relevant supportive care medications. These annotations include recommendations for dose modifications or monitoring.