Baccolini Valentina, Pitini Erica, Galeone Daniela, Marzuillo Carolina, Cicchetti Americo, Arca Marcello, Vicente Astrid M, Boccia Stefania, Villari Paolo
Department of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
Front Public Health. 2025 Apr 16;13:1425990. doi: 10.3389/fpubh.2025.1425990. eCollection 2025.
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.
基因组学在疾病预防和临床护理方面具有巨大潜力，但要将其整合到国家医疗保健系统（NHS）中，需要在全系统进行重大变革。本研究评估了意大利在基因组学应用方面的当前阶段，以确定关键改进领域，并为战略计划提供参考。
共有18位专家使用B1MG成熟度水平模型工具，对意大利国家医疗保健系统的成熟度水平进行了单独评分，评分范围为1（最低）至5（最高）。该工具是一个欧洲矩阵，包含49项指标，分为八个领域：治理、经济方面、伦理与立法、公众意识、劳动力技能、临床组织、临床指南和数据基础设施。在每个领域内进行了共识程序，最终就每个指标的一个成熟度水平达成一致。
尽管有一些国家层面的举措，但意大利在大多数指标上的实施仍处于地方层面。基因组医学被视为优先事项，但仍缺乏更新的战略和投资计划。在伦理和法律方面达到了较高的成熟度，但迫切需要在劳动力培训、公民参与和素养提升以及工具和新技术的大规模应用方面进行投资。用于改善数据存储、管理、分析、解释和共享的基础设施和指南尚未广泛可用。
意大利在实现基因组学可持续应用的道路上才刚刚起步。需要一个更新的国家战略，采取协调一致的行动和投资计划，以便在关键领域取得进展，包括人员教育、公众参与、技术基础设施和临床组织。
