Pre-emptive pharmacogenetic testing in Italy: a review of evidence and multidisciplinary consensus on key priorities for implementation

Pre-emptive pharmacogenetic (PGx) testing involves identifying genetic variants associated with drug response prior to prescribing medication, with the aim of guiding potential future drug selection or dosing to reduce adverse drug reactions and improve treatment outcomes. Despite decreasing costs and growing feasibility of multi-gene panels, implementation pre-emptive pharmacogenetic testing strategies remains limited across Europe. This study explores the potential impact and barriers to implementation in Italy, combining a review of current evidence with multistage consultations with Italian experts in related fields (pharmacology, laboratory medicine, genetics, clinical care, and public health). Our analysis supports the clinical utility, economic sustainability, and feasibility of pre-emptive PGx testing. However, key barriers persist, including limited real-world data, unclear reimbursement mechanisms, insufficient laboratory and IT infrastructure, poor clinician training, and patient concerns related to privacy and data protection. To address these challenges, we propose strategic actions across six areas: regulatory alignment, research investment, professional training and result interpretation, public awareness and consent, laboratory infrastructure, and IT systems and data governance.