Literature Interpretation
A recent study on the implementation of pharmacogenetic (PGx) testing in Italy, published in the European Journal of Human Genetics, systematically describes the distribution of PGx testing services, technical applications, clinical implementation, regional differences, and current problems in Italy, providing an evidence based basis for the standardized promotion of pharmacogenetics in Italy and other European countries.
I. Background and Purpose
At present, the clinical application of PGx technology in Italy is fragmented, without a nationally unified coordination and mutual recognition mechanism. To clarify the country’s pharmacogenetic testing landscape, the research team conducted a nationwide laboratory survey from January to October 2025. The core objectives were:
-To map the distribution and service map of pharmacogenetic testing laboratories in Italy;
-To clarify testing workflows, gene panels, technical methods, and interpretation standards;
-To reveal regional differences and implementation barriers, providing data support for national standardization.
II. Key Results
Basic characteristics of laboratories
Institutional attribute: 49 institutions participated, of which 82% were public institutions and only 18% private.
-Performing departments: Medical genetics departments accounted for the highest proportion (39%), followed by clinical pathology and biochemistry departments (18%), and clinical pharmacology departments (12%).
Testing applications and gene targets
Core application scenarios: PGx testing in Italy is highly concentrated in oncology. 94% (46 laboratories) performed dihydropyrimidine dehydrogenase gene (DPYD) testing related to fluoropyrimidine use, and 84% (41 laboratories) performed uridine diphosphate glucuronosyltransferase 1A1 gene (UGT1A1) testing related to irinotecan use.
Other tests: Laboratories performing tests for genes associated with azathioprine, clopidogrel, warfarin, etc. (TPMT, CYP2C19, CYP2C9, VKORC1, etc.) were relatively rare.
Technology and standard adherence
Testing strategy: 100% of DPYD and 97% of UGT1A1 tests were pre treatment tests; CYP2C19 and HLA B were mainly semi preemptive tests; CYP2D6 testing was mostly reactive, performed after adverse reactions occurred.
Technical methods: Real time PCR was the most commonly used technique; NGS was mainly used to detect the HLA B gene; among the institutions that reported results, only one laboratory used whole exome sequencing (WES).
Standard adherence: A relatively high proportion of laboratories followed the Italian Society of Pharmacology/Italian Association of Medical Oncology (SIF/AIOM) guidelines and the Clinical Pharmacogenetics Implementation Consortium (CPIC)/Dutch Pharmacogenetics Working Group (DPWG) guidelines.
Result interpretation and consultation
Report signing: 65% of test reports were signed by genetics specialists, 31% by clinical pathology/biochemistry specialists.
Clinical interpretation: 90% of laboratories provided interpretation, 73% indicated toxicity/inefficacy risk, but only 24% provided specific drug dosing recommendations.
Pharmacology consultation: Only 29% of laboratories offered pharmacological consultation services, and these were almost exclusively provided by clinical pharmacology departments – genetics and pathology departments provided very few.
Informed consent: 73% of laboratories implemented specific or general informed consent terms for pharmacogenetics.
Regional distribution: Testing activity was highly concentrated in northern Italy. Among laboratories with an annual test volume >200, 23 were in the north, 4 in the centre, and 6 in the south and islands – a severely uneven regional distribution of testing facilities.
Test volume: 69% of laboratories had an annual test volume >200, 19% had 100 200.
Reimbursement policy: Among surveyed laboratories, 73% received full reimbursement from the National Health System (NHS), 22% partial reimbursement, and 4% no reimbursement. Regional reimbursement rules were inconsistent. Currently, Italy has no specific billing/reimbursement code for pharmacogenetic testing, causing considerable implementation confusion across regions.
III. Discussion and Key Conclusions
Leading position of oncology – DPYD and UGT1A1 testing are widespread due to the promotion of guidelines from the European Medicines Agency (EMA) and the Italian Medicines Agency (AIFA). However, the application of pharmacogenetic testing in non oncology fields is seriously insufficient.
Non uniform technology and interpretation – There is no unified standard for testing panels, reagents, bioinformatics tools, or interpretation criteria, leading to poor comparability of results.
Insufficient multidisciplinary collaboration – Low involvement of pharmacologists and inadequate coverage of clinical medication consultation services.
Significant regional imbalance – PGx testing resources are mainly concentrated in northern medical institutions, with scarce resources in the central and southern regions – an equity deficit.
Weak policy support – Italy lacks a unified national framework for pharmacogenetic testing, resulting in an incomplete comprehensive system for reimbursement, regulation, training, etc.
Summary
This study is the first nationwide assessment of pharmacogenetic implementation status in Italy. It confirms that pharmacogenetics in Italy has been preliminarily implemented in the oncology field, but overall it is fragmented, non standardised, regionally uneven, and multidisciplinary disconnected. Therefore, establishing a national coordination framework, unifying technology and interpretation standards, and improving policies and training are the future needs for Italy to achieve standardized clinical application of pharmacogenetic testing, providing an important reference for other European countries.
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Appendix: Related Diseases, Related Drugs, and Corresponding Genetic Testing Targets
Post time: May-11-2026