Infraestructura de Medicina de Precisión asociada a la Ciencia y la Tecnología
The goal of Pediatric Precision Medicine is to stratify children affected by diseases to improve diagnosis and medical treatments. Researchers are using increasingly heterogeneous amounts of clinical data and broader scientific information to create classification strategies that allow the intervention to be related to the underlying mechanisms of disease in certain groups of patients. Most paediatric diseases, such as neurodevelopmental disorders, hereditary metabolic diseases, neuromuscular diseases, epilepsies and other ultra-rare monogenic diseases, are important causes of childhood death and disability in Spain and around the world. This project will implement a federated data platform following the guidelines, documentation, and instructions developed by IMPaCT-Data. In addition, as a pilot project, it is intended to be the starting point for the entire future national paediatric network, to structure its minimum bases by taking advantage of the phenotypic and genomic data of 300 patients and to carry out genomic studies and phenotypic analysis structured as a pilot study in 200 patients from four groups of pathologies.
The main objectives of this project are:
2- The application of Electronic Medical Record standards by introducing a “minimum set of clinical data” in four groups of diseases in order to obtain a set of common standards that can finally be included in the ERN, CSUR and CIBER;
3- Implementation of common tools between pediatric units and deployment of “Use Cases” for IMPaCT-Data and IMPaCT-Genomics
4- Application of automated tools for the analysis and sharing of genomic information of children with rare diseases and interaction with IMPaCT-Genomics.
During the period of execution of the project, it is being demonstrated that the clinical-care, social and SNS impact is significant due to the creation of a paediatric network of hospitals within the Spanish territory that will share clinical information of patients with rare diseases in a federated way, which allows the confidentiality of patient data to be preserved without the data leaving the hospital or centre of origin. The possibility of making federated consultations on these clinical data of patients with rare diseases will allow us to know if there are common symptoms or pathologies between the different hospitals. This will have a direct influence on the impact of the national health system, since it will be possible to access knowledge of the prevalence and data of patients with rare diseases, and it will be possible to improve the response time and genetic diagnosis of patients, by aligning with IMPaCT-Data and IMPaCT-Genomics respectively.
One of the key points of this project is to focus on the exchange of knowledge between Hospitals, avoiding as far as possible the displacement of patients who usually have high degrees of disability. With this, it would be possible to improve the quality of life of patients and their families significantly. The efforts made in digital transformation by the different centres, such as the structuring of free to structured text and its coding, allow these centres to be prepared for future projects where data must be shared in an interoperable way. Any current effort for the automation of data extraction is a step forward to ensure the continuity of this project, as well as to participate in future funded projects that allow us to continue advancing in the tools developed, incorporating new technologies, processes and protocols that allow Hospitals to diagnose their patients early and to achieve personalized and precision medicine. One of the main commitments of the consortium is that the project will be scalable in the future to other Spanish paediatric hospitals that care for patients with rare diseases.