Pharmacogenetic testing and TDM-TOX results interpretation

Abstract

Pharmacogenetics (PGx) can be defined as the study of the impact of hereditary genetic variations on the clinical response to drug treatments. In this definition, clinical response includes both therapeutic efficacy and the potential occurrence of side effects. There is therefore a potential link between PGx and therapeutic drug monitoring (TDM) as well as toxicology (forensic, clinical, occupational and/or environmental).

Following a short presentation of the French-speaking network of Pharmacogenetics (RNPGx's) updated recommendations concerning the selection of pharmacogenes of clinical interest at the present time (defined as core and secondary panels), examples of application will be presented in the context of immunosuppressive treatments in solid organ transplantation, antidepressant and antipsychotic treatments, anti-infectious treatments and anticancer treatments.

In addition to its prospective use associated to the prescription of a specific drug or its use to understand abnormal drug or toxicant behavior a posteriori, the prospects for using PGx data in a pre-emptive context will then be discussed, highlighting the main advantages of this latter approach and taking into account its main remaining obstacles such as the integration of the data into the patient's medical record and the generation of alerts when prescribing.