farmakogenomikas

Pharmacogenomics, or farmakogenomikas in some languages, is the study of how genetic variation influences an individual's response to medications. It combines pharmacology and genomics to explain why people differ in drug efficacy and the risk of adverse effects. Variants in genes encoding drug‑metabolizing enzymes, transporters, receptors, and drug targets can alter absorption, distribution, metabolism, and action.

Typically, genotyping or sequencing identifies variants such as CYP2D6, CYP2C9, TPMT, HLA alleles, and others to infer an individual’s metabolic phenotype or risk profile. Results are translated into dosing or drug choice recommendations using guidelines from CPIC (Clinical Pharmacogenetics Implementation Consortium) and the Dutch DPWG, among others. Pharmacogenomic testing is increasingly integrated into clinical workflows, especially where genotype‑guided therapy has strong evidence.

Applications span psychiatry (optimizing antidepressants and antipsychotics; avoiding codeine in poor CYP2D6 metabolizers), cardiology and thrombosis (warfarin dosing via VKORC1 and CYP2C9; clopidogrel response with CYP2C19), oncology (drug selection and dosing for certain targeted therapies), and immunology (HLA associations to drug hypersensitivity such as abacavir). TPMT testing informs azathioprine/6‑mercaptopurine dosing to reduce myelosuppression.

Benefits include improved efficacy and safety and more precise dosing. Limitations include cost, access, variable evidence across drugs, interpretation complexity, and privacy concerns. Ethical and logistical considerations, such as data governance and equitable implementation, accompany clinical adoption.

Future directions involve integrating pharmacogenomics with electronic health records and other omics data, expanding actionable variant panels, and refining guidelines to support widespread, evidence‑based implementation.