“Genome Data Infrastructure (GDI)” is underway, a project funded with 40M euros by the European Commission to create, within the “Digital Europe” program, an efficient and sustainable infrastructure to translate genomic research into current clinical practice and support the challenges of Precision Medicine on a European scale. Precision Medicine-based approaches enable to optimize diagnostic, prognostic, and therapeutic practices on the basis of the individual genetic profile, which today can be determined on a large scale at very low cost, bringing a direct benefit to both patients and the health system thanks to a significant reduction in costs associated with traditional therapeutic pathways.
The project stems from the “One Million Genomes” declaration of intent to produce over one million genomes of the European population by 2022. It was signed by the Ministers of Health of 23 countries, including Italy in 2018. It aims to develop an infrastructure capable of integrating genetic and clinical data and making them accessible, according to methods compliant with European and national regulations relating to sensitive data protection, to support innovative clinical practices’ development that allow each patient to receive the most appropriate and specific treatment for their condition and genetic profile.
The GDI project is coordinated by ELIXIR, the European Research Infrastructure for Life Sciences and Bioinformatics, and sees the participation of 23 countries, including Italy with the support of the Ministries of University, Research, and Health. The Italian partnership includes the National Research Council, the Catholic University of the Sacred Heart, the San Raffaele Hospital in Milan and the Italian Institute of Technology. The professor. Graziano Pesole (Cnr-Ibiom), coordinator of the ELIXIR national node, underlines: “The GDI project represents an extraordinary opportunity for our country to develop a system of scientific excellence in the genomic research field and bring them in the national health system which, although characterized by first-rate clinical realities even at an international level, it is very fragmented, also because of its organization on a regional basis. The digital infrastructure that we intend to develop, when fully operational, will enable to include the patient’s genetic information in the electronic health record, and to share it in a controlled manner, that respects the European legislation on the protection of individual data. This will pave the way for significant prospects for improvement and growth in quality and efficiency for many services provided by our healthcare system. In this context, the projects recently launched within the PNRR, for example the ELIXIRxNextGenIT project for the enhancement of the Italian ELIXIR node financed with approximately 18M euros, will allow the creation of a federated national biorepository in a cloud environment of human omics data and will be able to facilitate the activities envisaged by the GDI project. The challenge now remains that of guaranteeing long-term sustainability for such cutting-edge services, both as regards financial resources and, above all, for the highly specialized professional figures who must first be trained and then dedicated full-time to their management.
It will therefore be necessary to identify contractual methods and formulas that allow to overcome the time limits linked to specific projects with a view to providing a research infrastructure at the service of the country, sustainable over time, and able to respond to the numerous challenges of tomorrow in the health field. ”
CNR – Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari
Francesca De Leo, Cnr-Ibiom: firstname.lastname@example.org
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