Pharmacogenetics is the study of genetic variation influencing response to drug therapy. The goal of pharmacogenetics is that of personalized, precision medicine that permits safe, effective medication therapy for patients.
Classically, pharmacogenetics can be divided into four categories, with variants influencing aspects of drug availability and action. These categories include pharmacokinetics (including drug absorption, distribution, metabolism, excretion, and transport), pharmacodynamics (interaction of the drug at its primary target), disease modification (whereby disease-related genes also influence response to therapy), and idiosyncratic reactions.
A closely related field to pharmacogenetics is pharmacogenomics, which we also study at the Channing Division of Network Medicine (CDNM). In this context, pharmacogenomics assesses the impact of any genomic variation on drug response. As such, pharmacogenomics also encompasses investigation of variation in drug responses impacted by transcriptomics (mRNA), proteomics (protein), metabolomics (metabolite), and epigenomics (epigenetic changes via DNA methylation, etc.).
CDNM investigators have led multiple pharmacogenetic and pharmacogenomic studies affecting both asthma and COPD.
Pharmacogenetics includes studies of both candidate genes and genome-wide association, including:
Pharmacogenomics includes transcriptomic, metabolomic, and epigenomic studies, including:
CDNM is a long-standing member of the ongoing NIH Pharmacogenetics Research Network and the Pharmacogenetics in Childhood Asthma (PiCA) consortium.