Clinical pharmacogenetics: from the global demand of physicians to a national implementation strategy

Pharmacogenetic testing is at a turning point in cardiology. On one hand, evidence of its clinical and economic effectiveness is accumulating; on the other hand, a gap persists between physicians’ expectations and the actual availability of these technologies. Data from international and Russian surveys published in 2025–2026 allow, for the first time, a mapping of this gap and the identification of pathways to bridge it.

A large-scale survey conducted by the Working Group on Cardiovascular Pharmacotherapy of the European Society of Cardiology (ESC WG CVP) and published in April 2026 in The Pharmacogenomics Journal [1] encompassed 265 practicing physicians from 68 countries. The results are telling: 73% of respondents believe that CYP2C19 genotyping can improve the risk–benefit ratio of antiplatelet agents (clopidogrel, ticagrelor, prasugrel), and 61% believe that CYP2D6 testing confers similar benefits for beta-blockers and antiarrhythmics. However, actual access to testing is available to only 30% and 19% of respondents, respectively, with half of those having access exclusively through private laboratories. More than one-third of physicians indicated that the turnaround time for testing is a critical parameter, which must align with the pace of clinical practice. Notably, personal experience with taking drugs metabolized by CYP2C19 or CYP2D6 increased by 2–3 times the likelihood that a physician would consider pharmacogenetic testing justified for their patients.

Russian studies conducted almost synchronously demonstrate similar trends. A survey conducted by our team in 2022, published in Pharmacogenomics, included 378 practicing physicians and 185 medical residents. Every second respondent expressed willingness to apply pharmacogenetic tests in cardiology; however, the main barriers cited were lack of knowledge (p=0.015), the absence of relevant provisions in clinical guidelines, and the lack of economic justification [2]. Positive attitudes, as in the European survey, coexist with extremely low levels of actual implementation.

A study by our scientific editor, B.I. Kantemirova, and co-authors (2024), the results of which were presented in the International Journal of Risk & Safety in Medicine, found that more than half of surveyed phthisiatricians and residents had a positive attitude toward the introduction of pharmacogenetics in phthisiology. At the same time, the majority were unaware of the existence of the PharmGKB knowledge base, and the main obstacles were considered to be the absence of tests in clinical guidelines (50–55%) and a lack of large randomized trials [3].

A survey of 1,058 physicians from the Chelyabinsk region, conducted by V.O. Barysheva (Bogdanova) and co-authors, revealed a serious deficit in knowledge of clinical pharmacogenetics, as well as a persistent opinion among respondents regarding the excessively high cost and low availability of tests [4]. Thus, educational deficits and cost-related stereotypes are hindering the implementation of these technologies not only in Europe but also in Russian regions.

A targeted analysis of the availability of pharmacogenetic testing using Moscow as a case study was performed by A.N. Melnikova and M.V. Avksentyeva (2023). In the journal Therapy, they presented an assessment of the availability of SLCO1B1 testing for personalized statin selection. In the capital, only five laboratories were found to perform this test; costs ranged from 7,500 to 139,000 rubles, and result waiting times ranged from 5 days to 16 weeks. Gene panels in most laboratories did not conform to international recommendations (CPIC, PharmGKB). The findings directly correlate with the ESC data: even formally available access is often private, expensive, and non-standardized [5].

Finally, a study of the clinical pharmacology service in the Russian Federation, conducted by D.A. Sychev, V.V. Omelyanovsky, K.V. Gerasimova, and co-authors and published in the journal Clinical Pharmacology and Therapy, showed that pharmacogenetic testing has not yet become a routine tool even among specialized specialists—clinical pharmacologists [6]. Without its integration into their daily work, the full-scale implementation of these technologies into clinical practice remains in question.

The totality of the presented data allows the identification of three layers of problems requiring systemic solutions. First, education: as the ESC data show, even when access to testing is available, only half of physicians feel confident in interpreting the results. Second, infrastructure: public funding and test standardization are critically important, because as long as testing remains unjustifiably expensive and time-consuming, it cannot be routinely implemented. Third, regulation: the inclusion of pharmacogenetic testing in clinical guidelines (ESC, Russian clinical guidelines) is a key step, without which the technology will not become a mandatory practice that benefits patients. Addressing these tasks is the focus of the World-Class Research Centre (WCRC) "Centre for Predictive Genetics, Pharmacogenetics and Personalized Therapy" at the Petrovsky National Research Centre of Surgery, established in the summer of 2025 under the Federal Scientific and Technical Programme for the Development of Genetic Technologies for 2019–2030.