The PharmaNAGEN project, led by Dr. Juan José Beloqui, aimed to implement genetic analysis obtained through next-generation sequencing (NGS) techniques as a validated decision-support tool for clinical decisions related to pharmacological treatments within the public health network of Navarra.
Specifically, the study examined the effect of genotype-based dosing for thiopurines—the first line of treatment for inflammatory bowel diseases—and adverse effects in candidates for hematological transplantation treated with immunosuppressants and antifungals.
A total of 274 exomes (the protein-coding fragments of DNA) were sequenced from patients treated with commonly used drugs, such as immunosuppressants or antifungals. The analysis revealed that every single participant carried at least one relevant genetic variant that could affect their response to medications.
Based on this data, personalized recommendations were developed for more than 50 medications, which has already led to improved therapeutic decision-making in the Digestive and Hematology departments of the University Hospital of Navarra.
The project also developed IT tools to assist clinicians in personalized prescribing and adapted genetic interpretation algorithms for the population of Navarra. It was driven by Navarrabiomed, the HUN, and PharmaModelling, with funding from the Government of Navarra.