Infraestructura de Medicina de Precisión asociada a la Ciencia y Tecnología

IMPaCT is an initiative of the Instituto de Salud Carlos III including three programs: Predictive Medicine, Genomic Medicine and Data Science.

The CNAG-CRG will play an essential role in the Genomic Medicine program, coordinated by Ángel Carracedo from the CIBER for Rare Diseases. The objective is to provide the Spanish National Health System with a collaborative structure for the implementation of Genomic Medicine, so that patients can equitably access with adequate response times all genomic tests that are necessary to improve their health, and to use this genomic data to advance biomedical research in rare diseases, cancer and pharmacogenetics.

The Genomic Medicine program includes the establishment of a network of five Genomic Analysis Centers at different stages of development that will be articulated around the central node of the CNAG-CRG. Ivo Gut, director of the CNAG-CRG, will lead this part of the program that will focus on the implementation of standardized protocols for the sequencing and analysis of genomes and exomes, quality management systems and laboratory information management systems in all the centers. The program has three main objectives: improving the diagnosis of rare diseases, facilitating genomic diagnosis in oncology with highly complex tests, and promoting the development of pharmacogenetics.

The CNAG-CRG will also participate in the Data Science program, coordinated by Alfonso Valencia from the BSC, which seeks to develop a common system for the collection and analysis of clinical and molecular data. The objective is to create tools to coordinate, integrate, manage and analyze clinical data, including medical image information, and genomics, so that it is possible to implement Personalized Medicine at all the levels of the National Health System.

The CNAG-CRG, under the coordination of Sergi Beltran, will contribute to the program with the Genome-Phenome Analysis Platform (GPAP) of which local installations have already been made for Personalized Medicine projects in Spain such as URD-Cat, MedPerCan and NAGEN 1000. The original platform was developed for rare diseases thanks to the RD-Connect project, and already contains data of more than 13,000 exomes/genomes. RD-Connect GPAP is an IRDiRC recognized resource that has contributed to the personalized genomic diagnosis of more than 1,000 patients with rare diseases.

Ángel Carracedo, CIBERER; Alfonso Valencia (BSC), Spain