Pharmacogenetics – molecular basis for effective and safe drug therapy
https://doi.org/10.51922/2616-633X.2025.9.1.2515
Abstract
Тhe article provides information on a new branch of science – pharmacogenetics and pharmacogenetic phenomena that determine individual reactions to drugs depending on hereditarily determined features of biotransformation, interaction with receptor formations, enzyme systems, and practical possibilities for predicting individual effects. Mechanisms of drug interaction with the human body, genetically determined individual differences in drug effects should be considered as a regular pattern, since all pharmacodynamic processes, pharmacokinetics, and drug metabolism are mediated by protein formations, receptors, ion channels associated with them, carriers, enzymes of synthesis and metabolism of endogenous receptor ligands, various modulators, including peptide ones, and enzymes that metabolize drugs. These mechanisms are DNA-dependent, which determines their individuality, thus the response to the action of a drug is determined by a combination of genetic and external environmental factors, but at the same time, acquired properties modify genetically dependent mechanisms. The role of genetic and environmental factors for each patient must be determined individually. It is important to know the hereditary mechanisms of formation of individual reactions to drugs.
About the Author
S. A. Kostiuk
Research Institute of Experimental and Clinical Medicine, Belarusian State Medical University
Belarus
Belarus
Minsk
References
1. Kostjuk S.A. Modern achievements and basic principles of epigenetics: simple about the complex. Medicinskie novosti, 2020, no. 9, pp. 4-8. (in Russian).
2. Kostjuk S.A. Genes of predisposition to multifactorial diseases and genetic polymorphism: what is it? Medicinskie novosti, 2020, no. 7, pp. 45-49. (in Russian).
3. Kostjuk S.A. Molecular biological methods in medicine: monograph. Minsk: BelMAPO, 2013, 327 p. (in Russian).
4. Kostjuk S.A. Predictive medicine and genetic testing methods. Medicinskie novosti, 2016, no. 4, pp. 11-14. (in Russian).
5. Kostjuk S.A. Modern directions of using molecular genetic analysis in diagnostics of rheumatic diseases. Medicinskie novosti. 2017, no. 11, pp. 18-23. (in Russian).
6. Kostjuk S.A. Diagnostic and prognostic value of molecular biological markers of oncogenesis and the effectiveness of antitumor therapy. Medicinskie novosti, 2016, no. 7, pp. 2-7. (in Russian).
7. Kostjuk S.A., Davidovskij S.V., Kostjuk D.D. et al. Genetic determination of human psychological characteristics. Medicinskie novosti. 2021, no. 6, pp. 28-32. (in Russian).
8. Kostjuk S.A., Davidovskij S.V., Kostjuk D.D. et al. Genetic control of susceptibility to suicide and aggressive behavior. Problemy zdorovja i jekologii, 2021, vol. 18, no. 3, pp. 23-32. (in Russian).
9. Sychev D.A., Kantemirova B.I. Modern biomarkers as tools for patient-oriented medicine: pharmacogenetics and beyond. Farmakogenetika i farmakogenomika, 2022, no. 1, pp. 3-5. (in Russian).
10. Sacristán J.A. Patient-centered medicine and patient-oriented research: improving health outcomes for individual patients. BMC Med Inform Decis Mak, 2013, no. 13, pp. 6. doi: 10.1186/1472-6947-13-6.
11. Sychev D.A. “Multiomic” Studies as a Promising Clinical Pharmacological Tool for Personalization of Socially Significant Diseases Pharmacotherapy in Russia. Personalized Psychiatry and Neurology, 2022, vol. 2, no. 2, pp. 1-2.
12. Ashihmin Ja.I. Translational Medicine: New Hope or a Cunning Plan of the Pharmaceutical Industry? Farmakogenetika i farmakogenomika, 2015, no. 1, pp. 40-44. (in Russian).
13. Kukesa V.G., Bochkova N.P eds. Clinical pharmacogenetics. M.: GJeOTAR-Media, 2007, 248 p. (in Russian).
14. Seredenin S.B. Lectures on pharmacogenetics. M.: MIA, 2004, 303 p. (in Russian).
15. Leonova M.V. Strategy and technologies for dissemination and implementation of pharmacogenomics in clinical practice: foreign experience. Farmakogenetika i farmakogenomika, 2024, no. 1, pp. 44-52. (in Russian).
16. Licinio L., Wong M.L. eds. Pharmacogenomics. The Search for Individualized Therapies. Weinheim (Germany): WILEY-VCH Verlag GmbH, 2002. 585 p.
17. Kukes V.G. Clinical pharmacology. M.: GJeOTAR-Media, 2008, 304 p. (in Russian).
18. Kalow W. Pharmacogenetics: Heredity and Response to Drugs. Philadelphia: W.B. Saunders, PA, 1962.
19. Miroshnikova V.V., Pchelina S.N., Donnikov M.Ju. et al. Genetic testing in cardiology using NGS panel: from disease risk assessment to pharmaco - ge netics. Farmakogenetika i farmakogenomika, 2023, no. 1, pp. 7-19. (in Russian).
20. Kostjuk S.A., Polujan O.S., Rudenkova T.V. Using real-time PCR to substantiate personalized laboratory diagnostic tactics and treatment regimens for multifactorial diseases based on identifying features of changes in the genomes of diploid organisms. Laboratornaja diagnostika. Vostochnaja Evropa, 2021, vol. 10, no. 2, pp. 146-158. (in Russian).
21. Davidouski S.V., Ibragimova Zh.A., Babenka A.S. et al. Experience of using the molecular genetic studies to assess the risk of suicide. Proceedings of the National Academy of Sciences of Belarus, Medical series. 2021, vol. 18, no. 4, pp. 483-490.
22. Kindmark A., Jawaid A., Harbron C.G. et al. Genome-wide pharmacogenetic investigation of a hepatic adverse event without clinical signs of immunopathology suggests an underlying immune pathogenesis. Pharmacogenomics J, 2008, vol. 8., no. 3, pp. 186-195.
23. Swen J.J., Huizinga T.W., Gelderblom H. et al. Translating Pharmacogenomics: Challenges on the Road to the Clinic. PLoS Med. 2007, vol. 4., no. 8, pp. e209.
24. Koh N.V., Cvetovskaja G.A., Novikova Ja.V. et al. Contribution of genetic markers to changes in the therapeutic dosage of warfarin]. Vestnik NGU. Serija: Biologija, klinicheskaja medicina, 2011, vol. 9, no. 4, pp. 148-155. (in Russian).
25. Wadelius M., Chen L.Y., Eriksson N. et al. Association of warfarin dose with genes involved in its action and metabolism. Human Genetics, 2007, vol. 121, no. 1, pp. 23-24.
26. Guidelines. Bioequivalence assessment of medicinal products. Moskva, 2008, 32 p. (in Russian).
27. Recommendations for pharmaceutical companies on studying biotransformation and transporters of new drugs: study design, data analysis and inclusion of information in instructions for use. М., 2009.
28. Matsui S. Genomic Biomarkers for Personalized Medicine: Development and Validation in Clinical Studies. Computational and Mathematical Methods in Medicine, 2013, vol. 2013, pp. 865980.
29. Reflection Paper on Pharmacogenomic Samples, Testing and Data Handling. London, 2007. 8 p.
30. Reflection Paper on the use of Pharmacogenetics in the Pharmacokinetic Evaluation of Medicinal Products. London: 2006. 7 p.
31. Guidance for Industry Clinical. Pharmacogenomics: Premarket Evaluation in Early-Phase Clinical Studies and Recommendations for Labeling. USA: Food and Drug Administration, 2013. 26 p.
32. Rudenkova T.V., Kostjuk S.A., Klimkovich N.N., Demidenko A.N. Polymorphism of cytochrome P450 genes in patients with acute lymphoblastic and acute myeloblastic leukemia. Laboratornaja diagnostika. Vostochnaja Evropa, 2023, vol. 12, no. 3, pp. 347-357. (in Russian).
33. US Food and Drug Administration. Table of Pharmacogenomic Biomarkers in Drug Labels. Available at: https://www.fda.gov/drugs/science-and-research-drugs/table-pharmacogenomic-biomarkers-drug-labeling (accessed 21.05.2025).
34. Weber W.W. Pharmacogenetics. Oxford: Oxford University Press, 1997. 344 p.
35. Kalow W., Meyer U.A., Tyndale R. eds. Pharmacogenomics. New York: Marcel Dekker, 2001. 403 p.
Review
For citations:
Kostiuk S.A. Pharmacogenetics – molecular basis for effective and safe drug therapy. Emergency Cardiology and Cardiovascular Risks journal. 2025;9(1):2515-2523. (In Russ.) https://doi.org/10.51922/2616-633X.2025.9.1.2515
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