Farmaakogenomika

Farmaakogenomika, commonly referred to as pharmacogenomics, is the study of how an individual's genetic makeup influences their response to medications. It sits at the intersection of pharmacology and genomics and seeks to explain why drug efficacy and the risk of adverse effects vary among people.

Genetic variation in proteins involved in drug metabolism, transport, and targets can alter pharmacokinetics and pharmacodynamics. Enzymes of the cytochrome P450 family, such as CYP2D6, CYP2C9, and CYP2C19, are frequently studied because variants can slow or accelerate drug clearance. Other genes, including TPMT (thiopurine methyltransferase) and certain HLA alleles, can affect toxicity and hypersensitivity. Classic examples include warfarin dosing guided by VKORC1 and CYP2C9 variants, and antiplatelet therapy with clopidogrel depending on CYP2C19 status.

Clinical application uses genetic testing to tailor therapy, ranging from drug choice to dose optimization and monitoring. Guidelines and decision-support tools developed by groups such as CPIC help clinicians apply results at the point of care. Pharmacogenomic testing is increasingly integrated into electronic health records and pre-emptive testing programs.

Research methods include genotyping, sequencing, genome-wide association studies, and pharmacogenomic modeling. Data from large biobanks and clinical trials contribute to expanding evidence on gene–drug interactions and population differences.

Limitations include incomplete knowledge of all relevant gene–drug interactions, variable effect sizes, and non-genetic factors such as age, comorbidities, and drug interactions. Ethical and logistical issues involve consent, privacy, cost, access, and ensuring equitable benefits across populations.