Evidence map›Paper›PMID 41082076›Full record

ArticleJournal of community genetics2025

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 and 20 more

Abstract read
In one paragraph

Article in Journal of community genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

30 authors.

Francesco Andrea CausioSection of Hygiene, Department of Life Sciences & Public Health, Università Cattolica del Sacro Cuore, Rome, 00168, Italy.
Sara FarinaSection of Hygiene, Department of Life Sciences & Public Health, Università Cattolica del Sacro Cuore, Rome, 00168, Italy.
Alessandra MaioSection of Hygiene, Department of Life Sciences & Public Health, Università Cattolica del Sacro Cuore, Rome, 00168, Italy.
Flavia BecciaSection of Hygiene, Department of Life Sciences & Public Health, Università Cattolica del Sacro Cuore, Rome, 00168, Italy.
Luigi RussoSection of Hygiene, Department of Life Sciences & Public Health, Università Cattolica del Sacro Cuore, Rome, 00168, Italy.
Valentina BaccoliniDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Matteo ChiaraDepartment of Biosciences, University of Milan, Milan, Italy.
Americo CicchettiGraduate School of Economics and Healthcare Management (ALTEMS), Faculty of Economics, Università Cattolica del Sacro Cuore, Rome, Italy.
Gualtiero I ColomboImmunology and Functional Genomics Unit, Centro Cardiologico Monzino IRCCS, Milan, Italy.
Giovanni ComandéLider-Lab, Sant'Anna School of Advanced Studies of Pisa, Pisa, Italy.
Domenico CovielloLaboratory of Human Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy.
Ruggero De MariaInstitute of General Pathology, Università Cattolica del Sacro Cuore, Rome, Italy.
Massimo DelledonneDepartment of Biotechnology, University of Verona, Verona, Italy.
Corrado De VitoDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Daniela GaleoneDirectorate-General for Health Prevention, Ministry of Health, Rome, Italy.
Paolo GaspariniMedical Genetics, IRCCS Burlo Garofolo Maternal and Child Hospital, Trieste, Italy.
David HornerDepartment of Biosciences, University of Milan, Milan, Italy.
Giovanni MartinelliScientific Institute of Romagna for the Study and Treatment of Cancer (IRST) IRCCS, Meldola, Italy.
Carolina MarzuilloDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Laura PalazzaniFree University Maria SS. Assunta (LUMSA), Rome, Italy.
Erica PitiniDirectorate-General for Health Prevention, Ministry of Health, Rome, Italy.
Maurizio SanguinettiDepartment of Laboratory Sciences and Infectious Diseases, A. Gemelli, IRCCS University Hospital Foundation, Rome, Italy.
Aldo ScarpaARC-Net Research Center, Department of Diagnostics and Public Health, University of Verona, Verona, Italy.
Marco TartagliaMolecular Genetics and Functional Genomics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, 00146, Italy.
Francesco Danilo TizianoComplex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS "A. Gemelli", Rome, Italy.
Giovanni TononCancer Functional Genomics Unit, Division of Molecular Oncology, IRCCS San Raffaele, Milan, Italy.
Bruno DallapiccolaMolecular Genetics and Functional Genomics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, 00146, Italy.
Paolo VillariDepartment of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Giovanna Elisa Calabrò *Section of Hygiene, Department of Life Sciences & Public Health, Università Cattolica del Sacro Cuore, Rome, 00168, Italy. giovannaelisa.calabro@unicas.it.
Stefania Boccia *Section of Hygiene, Department of Life Sciences & Public Health, Università Cattolica del Sacro Cuore, Rome, 00168, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Genomic medicineHealthcare infrastructurePrecision medicinePublic health genomics

Identifiers

PMID41082076
PMCPMC12569334

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.