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

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.

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Publication Details

Journal
Journal of Community Genetics
Published
2025-10-13
DOI
https://doi.org/10.1007/s12687-025-00828-w
Primary Topic
Genomics and Rare Diseases
Type
article
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article

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

Corrado De Vito, Valentina Baccolini, Aldo Scarpa, Domenico Coviello et al.
Journal of Community Genetics
Genomics and Rare Diseases
article

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

Corrado De Vito, Valentina Baccolini, Aldo Scarpa, Domenico Coviello, Bruno Dallapiccola, Laura Palazzani, Paolo Gasparini, Paolo Villari, Giovanna Elisa Calabrò, Gualtiero I. Colombo, Francesco Andrea Causio, David S. Horner, Ruggero De Maria, Giovanni Tonon, Massimo Delledonne, Stefania Boccia, Giovanni Comandé, Giovanni Martinelli, Americo Cicchetti, Francesco Danilo Tiziano, Matteo Chiara, Maurizio Sanguinetti, Flavia Beccia, Sara Farina, Carolina Marzuillo, Erica Pitini, Alessandra Maio, Daniela Galeone, Marco Tartaglia, L. Russo
article en

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.

Journal of Community GeneticsVol. 16(6)
Università Cattolica del Sacro Cuore (IT), University of Verona (IT), Libera Università Maria SS. Assunta (IT), Vita-Salute San Raffaele University (IT), Scuola Superiore Sant'Anna (IT), Università degli studi di Cassino e del Lazio Meridionale (IT), University of Milan (IT), IRCCS Materno Infantile Burlo Garofolo (IT), Ministero della Salute (IT), Istituto Giannina Gaslini (IT), Agostino Gemelli University Polyclinic (IT), Centro Cardiologico Monzino (IT), University Hospital Foundation (CA), Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IT), Bambino Gesù Children's Hospital (IT), IRCCS Ospedale San Raffaele (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Sapienza University of Rome (IT)
Openalex Percentile: Top 69%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
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