The “NAGEN 1000” study targets mainly rare-disease patients and their families. The field of rare diseases is closely linked to Personalised Medicine: A specific diagnosis and treatment is needed for a small group of patients, or even for an individual person. In addition to providing answers about rare diseases, the whole genome data of the NAGEN 1000 study addresses the area of personalised prevention by analysing genetic factors that are connected to the risk for serious preventable diseases. In addition, the analysis of pharmacogenomic variants allows first insights into the kind and dosage of certain drugs that are tolerated by the individual person, which allows a more personalised treatment with lower adverse effects.
This project addressed the difficulties encountered for this implementation and provided innovative solutions to overcome the main barriers for genomic medicine progression, i.e. healthcare workforce education and public empowerment, optimized use of available infrastructures and resources, adaptation of pre-existing electronic health records, provision of big data analysis, ICT innovations, and ELSI regulations.
With an expected recruitment of 1,000 rare disease patients and their relatives, NAGEN has already provided complex genetic diagnoses for one third of the participating families, found transcendental genetic variations related to personal and reproductive risk to serious preventable diseases in 1 out of 20 enrollees, and identified a mean of 3.5 actionable pharmacogenomic variants, providing a base for a more efficient, less toxic drug prescription, in 100% of participants.
Further, strong candidate genomic findings, potentially explaining patients’ diseases, have been found in an additional 40% of the cohort, paving the way for new diagnoses to come and collaborative research projects in the future.
"NAGEN 1000” illustrates how translational research and innovation in the field of genomics and personalised medicine (PM) is already delivering benefit to real patients and it was awarded as a Best Practice in Personalised Medicine by ICPerMed in 2018.
Significantly, it resulted in setting the new Genomic Medicine Unit of Navarrabiomed and its NAGEN strategy which has now raised €6Mio for 3 R&D projects on PM over the last 4 years. NAGEN became an exemplar practice for the Spanish Senate Initiative for a National Strategy on Genomics and PM (2018), and has given rise to the launch of the Navarra Government Strategy on Personalised Medicine announced in November 2019.