Pharmacogenomics and Precision Oncology: Integrating Biomarkers into Clinical Practice
The integration of Pharmacogenomics (PGx) into the Italian healthcare system has become a priority for treating chronic diseases and cancer. The Italian Drug Agency (AIFA), in collaboration with the Italian Society of Pharmacology (SIF), has established mandatory screening for specific genetic variants before certain medications can be administered.
A prime example is the testing for DPYD gene variants before the use of fluoropyrimidines (common chemotherapy drugs). Patients with specific DPYD mutations are at high risk for life-threatening toxicity; thus, pre-therapeutic genotypic screening is now a standard of care reimbursed by the SSN. Similarly, the use of UGT1A1 testing for irinotecan dosing and BRCA1/2 testing for PARP inhibitor eligibility in breast and ovarian cancer represents the "precision medicine" shift in Italian oncology. The focus in 2026 is on moving from single-gene tests to multi-gene PGx panels that can predict a patient's response to an entire spectrum of cardiovascular, psychiatric, and oncological medications.

