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The italian national genomic strategy: current status, challenges, and future perspectives in clinical practice and public health

Francesco Andrea Causio
•
Sara Farina
•
Alessandra Maio
altro
Stefania Boccia
2025
  • journal article

Periodico
JOURNAL OF COMMUNITY GENETICS
Abstract
This article presents the outcomes of a national initiative aimed at developing a technical document to support the future Italian National Genomic Strategy, carried out from 2021 to 2024 through the collaboration of 14 research institutions. The project was designed to align with major European genomic initiatives, particularly the "1 + Million Genomes" (1 + MG) Declaration and its supporting programs, including Beyond 1 Million Genomes (B1 + MG), the Genomic Data Infrastructure (GDI), and Genome of Europe (GoE). The initiative was structured around 12 National Mirror Groups (NMGs), each addressing a specific domain such as clinical implementation, ethical and legal issues, data governance, health economics, and public engagement. Through expert consensus and coordinated activities, the project produced a comprehensive technical document outlining seven strategic lines and related intervention areas. These include the integration of genomic testing into clinical practice, development of specialized genomic centers, creation of a national genomic data infrastructure, professional training, and public education. The proposed strategy emphasizes equitable access to genomic medicine, the use of health technology assessment to evaluate new technologies, and the importance of citizen engagement and literacy. By fostering collaboration among institutions, healthcare professionals, and the public, the final goal is to position Italy as a leader in genomic medicine and ensure the responsible, effective, and ethical use of genomics in public health and clinical care.
DOI
10.1007/s12687-025-00828-w
WOS
WOS:001591953300001
Archivio
https://hdl.handle.net/11368/3130722
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-105018782040
https://link.springer.com/article/10.1007/s12687-025-00828-w
https://ricerca.unityfvg.it/handle/11368/3130722
Diritti
open access
license:creative commons
license uri:http://creativecommons.org/licenses/by/4.0/
FVG url
https://arts.units.it/bitstream/11368/3130722/1/12687_2025_Article_828.pdf
Soggetti
  • Genomic medicine

  • Healthcare infrastruc...

  • Precision medicine

  • Public health genomic...

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