British Journal of Clinical Pharmacology BJCP (September 2025: Uptake of DPYD and UGT1A1 testing in Italy and adherence to pharmacogenetic guidelines: A 5‐year perspective from an EQA provider – Roncato – British Journal of Clinical Pharmacology – Wiley Online Library)
Strengthening Pharmacogenetic Testing in Italy: A Five-Year Review of EMQN’s Pharmaco-scheme
Pharmacogenetics helps tailor treatments to a patient’s genetic profile, improving safety and effectiveness. This study reviews how Italian laboratories have adopted best practices in pharmacogenetic testing through their participation in EMQN’s Pharmaco-scheme between 2019 and 2023.
Key Highlights
- High engagement: Italian labs contributed 45% of all European submissions to the scheme.
- Rapid adoption of national guidelines: Use of the SIF-AIOM genotyping panel rose from 0% in 2019 to 97% in 2023.
- Improved clinical interpretation: The proportion of labs providing guideline-aligned reports increased from 34% in 2021 to 63% in 2023.
- Preferred testing method: Allelic discrimination became the standard, supported by EU-marked diagnostic kits.
- Variant-specific insight: Only the SIF-AIOM guidelines recommend testing for the DPYD*6 variant in reactive settings, though clearer guidance is needed to avoid undertreatment.
Why It Matters
This progress reflects growing awareness and harmonisation in pharmacogenetic testing across Italy. By aligning with international and national guidelines, laboratories are helping ensure patients receive safer, more personalised treatments—especially in oncology.
