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Updated: Mar 31, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Pre-emptive pharmacogenetic testing in Italy: a review of evidence and multidisciplinary consensus on key priorities
Angelica Valz Gris1, Antonio Cristiano1, Francesco Di Berardino1
1Section of Hygiene, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
Background:
Pre-emptive pharmacogenetic (PGx) testing involves identifying genetic variants associated with drug response before prescribing medication, with the aim of guiding drug selection or dosing to reduce adverse reactions and improve outcomes. Despite decreasing costs and the growing feasibility of multi-gene panels, implementation of pre-emptive PGx testing remains limited in Italy. This study aimed to evaluate the potential impact of pre-emptive PGx testing in Italy and to identify barriers and strategies for its implementation.
Methods:
We conducted a review of current evidence and a multistage consultation process with Italian experts from pharmacology, laboratory medicine, genetics, clinical care, and public health.
Results:
Our analysis supports the clinical utility, economic sustainability, and feasibility of pre-emptive PGx testing. However, significant barriers persist, including limited real-world data, unclear reimbursement mechanisms, insufficient laboratory and IT infrastructure, inadequate clinician training, and patient concerns related to privacy and data protection.
Conclusion:
To enable broader implementation, strategic actions are needed across six areas: regulatory alignment, research investment, professional training and result interpretation, public awareness and consent, laboratory infrastructure, and IT systems and data governance.
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