Journal Article
The italian national genomic strategy: current status, challenges, and future perspectives in clinical practice and public health
Francesco Andrea Causio; Sara Farina; Alessandra Maio; Flavia Beccia; Luigi Russo; Valentina Baccolini; Matteo Chiara; Americo Cicchetti; Gualtiero I. Colombo; Giovanni Comandé; Domenico Coviello; Ruggero De Maria; Massimo Delledonne; Corrado De Vito; Daniela Galeone; Paolo Gasparini; David Horner; Giovanni Martinelli; Carolina Marzuillo; Laura Palazzani; Erica Pitini; Maurizio Sanguinetti; Aldo Scarpa; Marco Tartaglia; Francesco Danilo Tiziano; Giovanni Tonon; Bruno Dallapiccola; Paolo Villari; Giovanna Elisa Calabrò; Stefania Boccia
Journal of Community Genetics · Vol. 16, Issue 6 · pp. 699-703 · 2025
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.