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The National Plan for Rare Diseases (2023–2026) and Genomic Data Integration
The National Plan for Rare Diseases serves as the strategic roadmap for genetic diagnostics in Italy. It emphasizes a multidisciplinary approach where the "patient center" is not just a clinic, but a network of expertise. Because 80% of rare diseases have a genetic origin, the plan focuses heavily on the implementation of Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) for unsolved cases.
To address regional disparities, the 2026 plan has established the Italian Genomic Backbone, a centralized database that allows different regions to share genomic variants of unknown significance (VUS). This collaborative effort is essential for identifying rare mutations that may only appear in a handful of patients across the entire country. By pooling data from the 21 regional systems, Italian researchers can more accurately determine which genetic variations are pathogenic, leading to faster and more accurate diagnoses for the "undiagnosed" patient population.
