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

TL;DR

This paper reviews the potential benefits and challenges of pre-emptive pharmacogenetic testing in Italy and outlines strategies to implement it effectively.

Contribution

The paper provides a multidisciplinary consensus on barriers and strategic priorities for implementing pre-emptive pharmacogenetic testing in Italy.

Findings

Pre-emptive PGx testing is clinically useful and economically sustainable.

Barriers include limited real-world data, unclear reimbursement, and insufficient infrastructure.

Implementation requires actions in regulatory, research, training, and data governance areas.

Abstract

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.

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.

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.

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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