Genetic polymorphisms affect the metabolism of antituberculosis drugs

The introduction of genetics into medicine has unlocked the ability to predict drug efficacy and/or toxicity, and pharmacogenomics makes an important contribution to personalized medicine and pharmacotherapy. Pharmacogenetic testing identifies genetic variants that alter the response to a drug. At the same time, up to 95 % of the population is a carrier of at least one genetic variant; however, a patient may be a carrier of several genetic variants at the same time, which may be important not only in cases of prescription of a particular drug but also of other drugs during the future life. In this regard, two pharmacogenetic approaches are relevant — reactive or preventive testing. The current trend is pharmacogenetic panel testing as a model for precision medicine. In a multiplex panel model, several gene variants affecting drug response are tested simultaneously, and the data are stored for future use.

However, practicing physicians have difficulty with genetic information because of low awareness of pharmacogenomics or lack of proper infrastructure and IT tools. Despite the publication of pharmacogenomics guidelines in the US (CPIC) and in the European Union (DPWG), most patients are still treated according to standard clinical practice. It was strategically important to establish interdisciplinary working groups — pharmacogenomics consortia — in the USA and the European Union, the purpose of which is to introduce pharmacogenetics into widespread clinical practice. The activities of these consortia and the results achieved are presented. In the work of consortia, various studies are used to analyze the level of knowledge on pharmacogenomics, applicationof pharmacogenetic testing, and clinical results, including different methodological approaches. The foreign experience (USA, European Union, China) in the dissemination and implementation of pharmacogenomics in real clinical practice is presented.