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

作者信息

Baccolini Valentina, Pitini Erica, Galeone Daniela, Marzuillo Carolina, Cicchetti Americo, Arca Marcello, Vicente Astrid M, Boccia Stefania, Villari Paolo

机构信息

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.

出版信息

Front Public Health. 2025 Apr 16;13:1425990. doi: 10.3389/fpubh.2025.1425990. eCollection 2025.


DOI:10.3389/fpubh.2025.1425990
PMID:40308916
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12041075/
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.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d91/12041075/ab31dffb0a13/fpubh-13-1425990-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d91/12041075/d539708d987b/fpubh-13-1425990-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d91/12041075/04a57fcc5898/fpubh-13-1425990-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d91/12041075/ab31dffb0a13/fpubh-13-1425990-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d91/12041075/d539708d987b/fpubh-13-1425990-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d91/12041075/04a57fcc5898/fpubh-13-1425990-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d91/12041075/ab31dffb0a13/fpubh-13-1425990-g003.jpg

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

Front Public Health. 2025-4-16

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本文引用的文献

[1]
Public health genomics research in Italy: an overview of ongoing projects.

Front Public Health. 2024

[2]
What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability.

Eur J Hum Genet. 2024-4

[3]
The 2022 primary care reform in Italy: Improving continuity and reducing regional disparities?

Health Policy. 2023-9

[4]
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Health Informatics J. 2023

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Eur J Hum Genet. 2023-3

[6]
An overview of Personalized Medicine landscape and policies in the European Union.

Eur J Public Health. 2022-11-29

[7]
Managing the introduction of genomic applications into the National Health Service: A special challenge for health technology assessment in Italy.

Front Public Health. 2022

[8]
Health equity in the implementation of genomics and precision medicine: A public health imperative.

Genet Med. 2022-8

[9]
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.

Sci Data. 2022-4-13

[10]
National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review.

Genes (Basel). 2022-3-21

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