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ORIGINAL RESEARCH article
Front. Public Health
Sec. Public Health Policy
Volume 13 - 2025 | doi: 10.3389/fpubh.2025.1425990
This article is part of the Research Topic Toward a Decision-Centric Precision Public Health: Clinical, Operational, and Analytical Advances View all 13 articles
The current stage of Italy in the implementation of genomics into the National Healthcare System: an application of the B1MG Maturity Level Model
Provisionally accepted
Valentina Baccolini 1,2*
Erica Pitini 3
Daniela Galeone 3
Carolina Marzuillo 1
Americo Cicchetti 4
Marcello Arca 2
Astrid Moura Vicente 5
Stefania Boccia 6,7
Paolo Villari 1- 1 Department of Public Health and Infectious Diseases, Faculty of Pharmacy and Medicine, Sapienza University of Rome, Rome, Lazio, Italy
- 2 Department of Translational and Precision Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, Rome, Lazio, Italy
- 3 Directorate General for Health Prevention, Ministry of Health (Italy), Rome, Lazio, Italy
- 4 Graduate School of Health Economics and Management, Catholic University of the Sacred Heart, Rome, Rome, Lazio, Italy
- 5 Instituto Nacional de Saúde Doutor Ricardo Jorge, Instituto de Medicina Preventiva e Saúde Pública, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal
- 6 Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, Rome, Lazio, Italy
- 7 Department of Women's Health, Children's Health and Public Health, Agostino Gemelli University Polyclinic (IRCCS), Rome, Lazio, Italy
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.
Keywords: Genomics, implementation, National healthcare system, Expert consultation, Italy
Received: 30 Apr 2024; Accepted: 04 Apr 2025.
Copyright: © 2025 Baccolini, Pitini, Galeone, Marzuillo, Cicchetti, Arca, Vicente, Boccia and Villari. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Valentina Baccolini, Department of Public Health and Infectious Diseases, Faculty of Pharmacy and Medicine, Sapienza University of Rome, Rome, 00185, Lazio, Italy
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