# The current stage of Italy in the implementation of genomics into the National Healthcare System: an application of the B1MG maturity level model

## TL;DR

This paper evaluates Italy's progress in integrating genomics into healthcare and identifies areas needing improvement.

## Contribution

The study applies the B1MG maturity level model to assess Italy's genomic healthcare implementation for the first time.

## Key findings

- Italy's genomic implementation is mostly at a local level with no updated national strategy.
- Higher maturity is observed in ethical and legal aspects compared to workforce training and data infrastructure.
- Investment in education, public engagement, and technical infrastructure is urgently needed.

## Abstract

Genomics holds significant promise for prevention and clinical care yet integrating it into the national healthcare system (NHS) requires considerable system-wide changes. This study assessed the current stage of Italy in the use of genomics, to map critical areas for improvement and contribute to a strategic plan.

A total of 18 experts rated individually the level of maturity of the Italian NHS on a scale from 1 (lowest) to 5 (highest) using the B1MG Maturity Level Model tool. This instrument is an European matrix of 49 indicators grouped into eight domains: governance, economic aspects, ethics and legislation, public awareness, workforce skills, clinical organization, clinical guidelines, and data infrastructure. Consensus procedures were performed within each domain to finally agree on one maturity level per indicator.

Despite a few national initiatives, Italy shows a local level of implementation in most indicators. Genomic medicine is considered a priority, but still lacks an updated strategy and investment plans. A higher maturity is reached for ethical and legal aspects, but there is a strong need to invest in workforce training, citizen engagement and literacy, and large-scale adoption of tools and novel technologies. Infrastructures and guidelines to improve data storage, management, analysis, interpretation, and sharing are not yet widespread available.

Italy is at the beginning of its journey towards a sustainable implementation of genomics. An updated national strategy with coordinated actions and investment plans is needed to make progress in key areas, including personnel education, public engagement, technical infrastructure, and clinical organization.