PHARMANAGEN is a strategic project born with the aim of going deeper into genetics through the exome sequencing, generating first level evidence to support it and creating the tools for its correct implementation in routine clinical practice. Part of this objective is to generate a new dimension of safety and efficacy within the Navarra Health Service-Osasunbidea (SNS-O), adding it to other disciplines, such as pharmacokinetic monitoring, which form part of personalised medicine.
To carry out these objectives, a consortium of institutions has been created, formed by Navarrabiomed, which is the biomedical research centre of the Government of Navarra; the Navarra Health Service through the Navarra Universitary Hospital (HUN), involving professionals from different fields: Pharmacy Service, Gastrointestinal Service and Haematology Service of the HUN, the Evaluation and Planning Section, the Pharmacy Sub-Directorate and other clinical resources. This varied participation has made it possible to bring together different experiences and knowledge, ranging from knowledge of routine clinical practice, knowledge of drugs and their pharmacogenetics, and knowledge of top-level evaluation and evidence generation tools.
It should be noted that the project has managed to break down one of the existing barriers to the implementation of pharmacogenetics at the clinical level. It has managed to generate first level evidence for the systematic review of thiopurinic drugs in Inflammatory Bowel Disease and has also created a compilation of revised pharmacogenetic recommendations adapted to our local situation. The final table of pharmacogenetic recommendations includes recommendations for a total of 52 drugs. Thirteen different genes have been chosen, encompassing 43 different genotypes. The final number of recommendations is 114. The drugs involved cover almost all anatomical groups, with those related to anti-infectives and the nervous system standing out for their number.
These tools, together with the pharmacogenetic prescription aid system implemented within the electronic Clinical Decission Support System in Navarra, are the first piece that will allow access to pharmacogenetic data throughout the Navarra Health Service, regardless of the level of care. This entails a paradigm shift that brings a discipline of extremely high scientific-technical complexity closer from the limited field of specialised care to the general field, which will enable a much more rapid development of this discipline in the coming years.
The sequencing of the complete exome of 274 patients with Inflammatory Bowel Disease or candidates for Haematological Transplantation has been achieved. 2,192 variants have been found in these patients that can mark their response or toxicity to drugs commonly used in clinical practice. All patients had at least 1 gene with a phenotype different from normal, with an average of 8 altered genes per patient, and all patients had a unique pharmacogenetic profile that distinguished them from other patients.
In conclusion, the PHARMANAGEN project has opened the way for the direct implementation of pharmacogenetic data in the SNS-O, acquiring and generating the necessary knowledge and tools so that not only the patients included in the project, but all those patients, past and future, for whom the study of the human genome or exome is a clinical option, can benefit from personalised prescription.