Pharmacogenetics

Pharmacogenetics investigates the contribution of genetic variability to interindividual differences in drug metabolism, pharmacokinetics and treatment response.

Variants in genes encoding drug-metabolizing enzymes, transporters and pharmacological targets represent key determinants of variability in drug exposure and biological effect, with potential implications for both efficacy and safety.

Among the most extensively characterized examples are VKORC1 and CYP2C9, involved in warfarin metabolism, and DPYD, which encodes the rate-limiting enzyme in the catabolism of fluoropyrimidine drugs.

The impact of these genetic factors is widely documented in the scientific literature and increasingly considered in the characterization of variability in drug response across different therapeutic areas.