POR-FESR: 2014 2020 – Clingen - clinical genomes in everyday practice

The genetic tests currently used to detect gene variants associated with certain diseases apply a targeted approach that allows the analysis of a limited portion of the genome. In this way, more than 90% of the clinically relevant variations are lost, which makes the diagnostic process complex and inefficient. The sequencing of the entire genome is becoming the new standard for genetic testing. The current challenge is to widespread its use in clinical practice for both personalized and precision medicine and for more efficient patient management. The aim of the project is to develop a workflow for the implementation of the sequencing of the entire human genome in clinical practice through three pilot projects: breast cancer, cognitive disorders, defects in eye development. Among the goals is the improvement of the quality of care and, in the prospect, the reduction of costs for health services. In addition, the implementation of data and knowledge of the pathologies analyzed will be the basis for new research projects and for the development of new diagnostic, prognostic and predictive tools.