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Strategy and technologies of distribution and implementation of pharmacogenomics in clinical practice: foreign experience

https://doi.org/10.37489/2588-0527-2024-1-44-52

EDN: OLYUOC

Abstract

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, application of 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.

About the Author

M. V. Leonova
Association of Clinical Pharmacologists
Russian Federation

Marina V. Leonova, Dr. Sci. (Med.), Professor, Corresponding Member of the Russian Academy of Natural Sciences, Member of the Interregional Public Organization of the Association of Clinical Pharmacologists (Moscow Branch),

Moscow


Competing Interests:

The author declare that there is no conflict of interest.



References

1. Relling MV, Evans WE. Pharmacogenomics in the clinic. Nature. 2015 Oct 15;526(7573):343-50. doi: 10.1038/nature15817.

2. Pirmohamed M. Personalized pharmacogenomics: predicting efficacy and adverse drug reactions. Annu Rev Genomics Hum Genet. 2014;15:349-70. doi: 10.1146/annurev-genom-090413-025419.

3. Hess GP, Fonseca E, Scott R, Fagerness J. Pharmacogenomic and pharmacogenetic-guided therapy as a tool in precision medicine: current state and factors impacting acceptance by stakeholders. Genet Res (Camb). 2015 Jun 1;97:e13. doi: 10.1017/S0016672315000099.

4. Haidar CE, Crews KR, Hoffman JM, Relling MV, Caudle KE. Advancing Pharmacogenomics from Single-Gene to Preemptive Testing. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:449-473. doi: 10.1146/annurev-genom-111621-102737.

5. Weitzel KW, Cavallari LH, Lesko LJ. Preemptive Panel-Based Pharmacogenetic Testing: The Time is Now. Pharm Res. 2017 Aug;34(8):1551-1555. doi: 10.1007/s11095-017-2163-x.

6. Roden DM, Van Driest SL, Mosley JD, et al. Benefit of Preemptive Pharmacogenetic Information on Clinical Outcome. Clin Pharmacol Ther. 2018 May;103(5):787-794. doi: 10.1002/cpt.1035.

7. Meaddough EL, Sarasua SM, Fasolino TK, Farrell CL. The impact of pharmacogenetic testing in patients exposed to polypharmacy: a scoping review. Pharmacogenomics J. 2021 Aug;21(4):409-422. doi: 10.1038/s41397-021-00224-w.

8. Cecchin E, Roncato R, Guchelaar HJ, Toffoli G; Ubiquitous Pharmacogenomics Consortium. Ubiquitous Pharmacogenomics (U-PGx): The Time for Implementation is Now. An Horizon2020 Program to Drive Pharmacogenomics into Clinical Practice. Curr Pharm Biotechnol. 2017;18(3):204-209. doi: 10.2174/1389201018666170103103619.

9. Caudle KЕ, Klein TЕ, Hoffman JМ, et al. Incorporation of pharmacogenomics into routine clinical practice: The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process. Curr. Drug Metabol. 2014;15(2): 209-217. doi: 10.2174/1389200215666140130124910.

10. Swen JJ, Nijenhuis M, de Boer A, et al. Pharmacogenetics: from bench to byte-an update of guidelines. Clin Pharmacol Ther. 2011 May;89(5):662-73. doi: 10.1038/clpt.2011.34.

11. Implementing Genomics in Practice (IGNITE) [Internet]. Сайт: https://www.genome.gov/Funded-Programs-Projects/ImplementingGenomics-in-Practice-IGNITE

12. van der Wouden CH, Cambon-Thomsen A, Cecchin E, et al; Ubiquitous Pharmacogenomics Consortium. Implementing pharmacogenomics in Europe: design and implementation strategy of the Ubiquitous Pharmacogenomics Consortium. Clin Pharmacol Ther. 2017;101(3):341-358. doi: 10.1002/cpt.602.

13. Smith DM, Peshkin BN, Springfield TB, et al. Pharmacogenetics in practice: estimating the clinical actionability of pharmacogenetic testing in perioperative and ambulatory settings. Clin Transl Sci. 2020;13(3):618-627. doi: 10.1111/cts.12748.

14. Duarte JD, Dalton R, Elchynski AL, et al. Multisite investigation of strategies for the clinical implementation of pre-emptive pharmacogenetic esting. Genet Med. 2021 Dec;23(12):2335-2341. doi: 10.1038/s41436-021-01269-9.

15. Allen JD, Zhang L, Johnson ANK, et al. Development and Validation of the Minnesota Assessment of Pharmacogenomic Literacy (MAPL). J Pers Med. 2022;12(9):1398. doi: 10.3390/jpm12091398

16. Manson LE, van der Wouden CH, Swen JJ, Guchelaar HJ. The Ubiquitous Pharmacogenomics consortium: making effective treatment optimization accessible to every European citizen. Pharmacogenomics. 2017 Jul;18(11):1041-1045. doi: 10.2217/pgs-2017-0093.

17. Just KS, Steffens M, Swen JJ, et al. Medical education in pharmacogenomics-results from a survey on pharmacogenetic knowledge in healthcare professionals within the European pharmacogenomics clinical implementation project Ubiquitous Pharmacogenomics (U-PGx). Eur J Clin Pharmacol. 2017;73(10):1247-1252. doi: 10.1007/s00228-017-2292-5.

18. van der Wouden CH, van Rhenen MH, Jama WOM, et al. Development of the PGx-passport: a panel of actionable germline genetic variants for pre-emptive pharmacogenetic testing. Clin Pharmacol Ther. 2019;106:866-873. doi: 10.1002/cpt.1489.

19. van der Wouden CH, Cambon-Thomsen A, Cecchin E, et al.; Ubiquitous Pharmacogenomics Consortium. Implementing pharmacogenomics in Europe: design and implementation strategy of the ubiquitous pharmacogenomics consortium. Clin Pharmacol Ther. 2017;101:341-358. doi: 10.1002/cpt.602.

20. Blagec K, Koopmann R, Crommentuijn-van Rhenen M, et al. Implementing pharmacogenomics decision support across seven European countries: the ubiquitous pharmacogenomics (U-PGx) project. J Am Med Inform Assoc. 2018;25:893-898. doi: 10.1093/jamia/ocy005.

21. Cavallari LH, Johnson JA. Use of a multi-gene pharmacogenetic panel reduces adverse drug effects. Cell Rep Med. 2023;4(5):101021. doi: 10.1016/j.xcrm.2023.101021.

22. Zhang C, Lei J, Liu Y, et al. Therapeutic drug monitoring and pharmacogenetic testing in Northern China. Front Pharmacol. 2021;12:754380. doi: 10.3389/fphar.2021.754380.

23. Kaye JB, Schultz LE, Steiner HE, et al. Warfarin Pharmacogenomics in Diverse Populations. Pharmacotherapy. 2017 Sep;37(9):1150-1163. doi: 10.1002/phar.1982.

24. Jang JS, Cho KI, Jin HY et al. Meta-analysis of cytochrome P450 2C19 polymorphism and risk of adverse clinical outcomes among coronary artery disease patients of different ethnic groups treated with clopidogrel. Am J Cardiol. 2012;110(4):502-508. doi: 10.1016/j.amjcard.2012.04.020.

25. Zhang J, Qi G, Han C, et al. The landscape of clinical implementation of pharmacogenetic testing in Central China: a single-center study. Pharmgenomics Pers Med. 2021;14:1619-1628. doi: 10.2147/PGPM.S338198/

26. Chen H, Yang X, Lu M. Methylenetetrahydrofolate reductase gene polymorphisms and recurrent pregnancy loss in China: a systematic review and meta-analysis. Arch Gynecol Obstet. 2016;293(2):283-290. doi: 10.1007/s00404-015-3894-8.

27. Huang Q, Liao Y, Yu T, et al. A retrospective analysis of preemptive pharmacogenomic testing in 22,918 individuals from China. J Clin Lab Anal. 2023;37(5):e24855. doi: 10.1002/jcla.24855.

28. Jia T, Wu C, Hu X, et al. Physicians' knowledge, attitude, and experience of pharmacogenomic testing in China. J Pers Med. 2022;12(12):2021. doi: 10.3390/jpm12122021.

29. Zhang L, Zhou S, Allen JD, et al. Assessing pharmacogenomic literacy in China through validation of the Chinese version of the Minnesota Assessment of Pharmacogenomic Literacy. Clin Transl Sci. 2023;16(11):2356-2368. doi: 10.1111/cts.13637.


Review

For citations:


Leonova M.V. Strategy and technologies of distribution and implementation of pharmacogenomics in clinical practice: foreign experience. Pharmacogenetics and Pharmacogenomics. 2024;(1):44-52. (In Russ.) https://doi.org/10.37489/2588-0527-2024-1-44-52. EDN: OLYUOC

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ISSN 2588-0527 (Print)
ISSN 2686-8849 (Online)