: Pharmacogenetics enables personalization of drug therapy based on an individual's genetic profile. Despite clinical relevance, implementation of pharmacogenetics remains limited. In Italy, integration is fragmented, with heterogeneous practices and a lack of national coordination. A comprehensive assessment of the current landscape is essential. A nationwide survey was conducted between January and October 2025 to map laboratories providing pharmacogenetic testing. A structured questionnaire collected data on institutional characteristics, testing workflows, pharmacogene panels, analytical methodologies, interpretation procedures, and reimbursement. Forty-nine laboratories participated (response rate: 65%). Most were part of public institutions (82%), primarily general or research hospitals. Testing was predominantly performed in medical genetics units (39%) and focused on oncology, specifically DPYD (94%) and UGT1A1 (84%) for fluoropyrimidine and irinotecan therapies. Adherence to national (SIF/AIOM) and international (CPIC/DPWG) guidelines was generally high; compliance with AMP Tier 1 analytical standards varied substantially. Pharmacological counseling was provided by only 29% of laboratories, mainly by clinical pharmacology units. Considerable heterogeneity emerged in testing platforms, bioinformatics tools, and the use of CE-IVD-certified kits. Marked geographical disparities were evident, with pharmacogenetic activity concentrated in Northern Italy. This survey provides the first national overview of pharmacogenetics implementation in Italy, revealing variability in laboratory practices, interpretation standards, and clinical integration. While oncology-related testing is widely adopted and guideline adherence is increasing, the lack of a coordinated national framework restricts consistency and equitable access. Establishing a coordinated network of pharmacogenetic laboratories with harmonized standards for testing, reporting, and education is crucial for evidence-based pharmacogenetic care.
Pharmacogenetic testing in Italy: results of a nationwide survey by the Joint Working Group for the pharmacogenetics implementation in Italy
Squassina, Alessio;Floris, Matteo
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2026-01-01
Abstract
: Pharmacogenetics enables personalization of drug therapy based on an individual's genetic profile. Despite clinical relevance, implementation of pharmacogenetics remains limited. In Italy, integration is fragmented, with heterogeneous practices and a lack of national coordination. A comprehensive assessment of the current landscape is essential. A nationwide survey was conducted between January and October 2025 to map laboratories providing pharmacogenetic testing. A structured questionnaire collected data on institutional characteristics, testing workflows, pharmacogene panels, analytical methodologies, interpretation procedures, and reimbursement. Forty-nine laboratories participated (response rate: 65%). Most were part of public institutions (82%), primarily general or research hospitals. Testing was predominantly performed in medical genetics units (39%) and focused on oncology, specifically DPYD (94%) and UGT1A1 (84%) for fluoropyrimidine and irinotecan therapies. Adherence to national (SIF/AIOM) and international (CPIC/DPWG) guidelines was generally high; compliance with AMP Tier 1 analytical standards varied substantially. Pharmacological counseling was provided by only 29% of laboratories, mainly by clinical pharmacology units. Considerable heterogeneity emerged in testing platforms, bioinformatics tools, and the use of CE-IVD-certified kits. Marked geographical disparities were evident, with pharmacogenetic activity concentrated in Northern Italy. This survey provides the first national overview of pharmacogenetics implementation in Italy, revealing variability in laboratory practices, interpretation standards, and clinical integration. While oncology-related testing is widely adopted and guideline adherence is increasing, the lack of a coordinated national framework restricts consistency and equitable access. Establishing a coordinated network of pharmacogenetic laboratories with harmonized standards for testing, reporting, and education is crucial for evidence-based pharmacogenetic care.
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