The 1000 Navarra Genome Project (NAGEN1000), led by Dr. Ángel Alonso, was a national pioneer in the clinical use of whole-genome sequencing techniques. NAGEN1000 aimed to transition Whole Genome Sequencing (WGS) technology from technological centers and expert groups to Navarre’s public health network as both a clinical and research tool. Specifically, the project focused on diagnosing participants with rare diseases of probable genetic origin.
During the project, 716 whole genomes from affected individuals and their families were analyzed. This work achieved a genetic diagnosis in 36% of cases and identified relevant clinical findings in many more. In some instances, diagnoses were reached after years of searching, reducing an average diagnostic delay of up to 15 years.
Beyond its healthcare impact, the project enabled the development of bioinformatics tools for genomic analysis and demonstrated that this technology is cost-effective compared to traditional diagnostic pathways. Due to its innovative nature, NAGEN1000 received the European ICPerMed "Best Practice in Personalised Medicine" award in 2018.
The consortium was composed of Navarrabiomed, the University Hospital of Navarre (HUN), Nasertic, and Avantia400+, with funding from the Government of Navarre.