Publication
The current stage of Italy in the implementation of genomics into the National Healthcare System: an application of the B1MG maturity level model
| dc.contributor.author | Baccolini, Valentina | |
| dc.contributor.author | Pitini, Erica | |
| dc.contributor.author | Galeone, Daniela | |
| dc.contributor.author | Marzuillo, Carolina | |
| dc.contributor.author | Cicchetti, Americo | |
| dc.contributor.author | Arca, Marcello | |
| dc.contributor.author | Vicente, Astrid M. | |
| dc.contributor.author | Boccia, Stefania | |
| dc.contributor.author | Villari, Paolo | |
| dc.date.accessioned | 2025-11-12T16:10:47Z | |
| dc.date.available | 2025-11-12T16:10:47Z | |
| dc.date.issued | 2025-04-16 | |
| dc.description | This article is part of the Research TopicToward a Decision-Centric Precision Public Health: Clinical, Operational, and Analytical Advances. | |
| dc.description.abstract | Introduction: 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. Methods: 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. Results: 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. Discussion: 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. | eng |
| dc.description.sponsorship | This work was supported by the Italian Ministry of Health-National Center for Disease Prevention and Control through the Italian project “Strategia Genomica italiana: istituzione di una cabina di regia a supporto dell’iniziativa europea 1+Million Genomes (1+MG) e Beyond 1+MG (B1MG) e del Coordinamento Interistituzionale per la Genomica in Sanità Pubblica” [Italian Genomics Strategy: establishment of a steering committee to support the European 1+Million Genomes (1+MG) and Beyond 1+MG (B1MG) initiative and the Interinstitutional Coordination Group for Genomics in Public Health], and the European Union—NextGenerationEU through the Italian Ministry of University and Research under PNRR—M4C2-I1.3 Project PE_00000019 "HEAL ITALIA" to Paolo Villari, Spoke 8, CUP B53C22004000006. | |
| dc.identifier.citation | Front Public Health. 2025 Apr 16:13:1425990. doi: 10.3389/fpubh.2025.1425990. eCollection 2025 | |
| dc.identifier.doi | 10.3389/fpubh.2025.1425990 | |
| dc.identifier.eissn | 2296-2565 | |
| dc.identifier.pmid | 40308916 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/10598 | |
| dc.language.iso | eng | |
| dc.peerreviewed | yes | |
| dc.publisher | Frontiers Media | |
| dc.relation.hasversion | https://www.frontiersin.org/journals/public-health/articles/10.3389/fpubh.2025.1425990/full | |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
| dc.subject | Genomics | |
| dc.subject | National Healthcare System | |
| dc.subject | Expert Consultation | |
| dc.subject | Implementation | |
| dc.subject | National Healthcare System | |
| dc.subject | Italy | |
| dc.subject | Políticas de Saúde | |
| dc.title | The current stage of Italy in the implementation of genomics into the National Healthcare System: an application of the B1MG maturity level model | eng |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.startPage | 1425990 | |
| oaire.citation.title | Frontiers in Public Health | |
| oaire.citation.volume | 13 | |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 |