At CNAG, as coordinators of the IMPaCT-Genómica sequencing network, we present this outreach video showcasing the collaborative work behind Spain’s national genome sequencing infrastructure. The network brings together three leading centres—CNAG in Barcelona, Fundación Pública Galega de Medicina Xenómica in Santiago de Compostela, and Nasertic-Navarrabiomed in Pamplona—to deliver high-quality genome analyses aimed at diagnosing rare genetic diseases and optimising treatment for certain types of cancer.

More than 100 hospitals and healthcare centres across Spain send their samples to our sequencing network, which is equipped with the latest technological advances to provide cutting-edge clinical solutions. The centres also store the data for future research purposes.

Working in close collaboration, the three centres generate genomes of the highest quality. This joint effort has made it possible to establish Spain’s first national genomic infrastructure.

Coordinating this network has been one of the first major challenges of the IMPaCT-Genómica programme. To ensure success, three multidisciplinary working groups were set up, involving clinical teams, molecular geneticists and bioinformaticians.

By December 2024, IMPaCT-Genómica had sequenced the genomes of nearly 3,000 patients with rare and familial diseases in search of a diagnosis, including several cases of adverse drug reactions. The programme had also sequenced the genomes of over 500 patients with various types of hereditary cancer and 100 patients with primary cancers of unknown origin, in order to identify potential treatments.