Kutafin Law Review

Advanced search

Genetic Research Application in the Study of Pharmaceuticals

Full Text:


The current science and research trends, as well as the development of personalized medicine, point to the need to use genetic tests in course of the study of pharmaceuticals. Pharmacogenetic testing has become indispensable when developing new pharmaceuticals in order to study both the peculiarities of pharmacodynamic effects or the prospects of personalized treatment, and the characteristics of metabolism or drug-drug interaction. In addition, the introduction of pharmacogenetics in bioequivalence studies allows limiting, at early stages, the criteria for inclusion or non-inclusion of volunteers based on certain gene polymorphisms determining the metabolic rate.

The study of the genetic characteristics of clinical trial participants allows a more detailed analysis of the role of gene polymorphisms in terms of both pharmacokinetics and pharmacodynamics of the studied pharmaceuticals.

A separate important issue is genetic material collection from the clinical trial participants. On the one hand, the use of biological material collections is an essential tool for accomplishing the practical tasks in both the pharmaceutical industry and the state-of-the-art medicine. On the other hand, the legal review and ethics review of genetic material collection and use can become formidable barriers to the development of biobanking. The existing legislative differences between Russia and other countries allow identifying the most challenging regulatory aspects, and can contribute to international law harmonization in the sphere of biobanking in the future.

About the Authors

A. L. Khokhlov
Yaroslavl State Medical University
Russian Federation

Alexander L. Khokhlov - Corresponding Member of the Russian Academy of Sciences, Dr. Sci. (Medicine), Professor, Head of the Department of Clinical Pharmacology and Drug Use Ethics under the auspices of UNESCO, Yaroslavl State Medical University.

Revolutsionnaya St., 5, Yaroslavl, 150000.

Ph. A. Romanov
Ministry of Health of the Russian Federation
Russian Federation

Philip A. Romanov - Director of the Department for State Regulation of Circulation of Pharmaceuticals, Ministry of Health of the Russian Federation.

Sadovaya-Kundrinskaya, 9, Moscow, 125993.

A. A. Mokhov
Kutafin Moscow State Law University (MSAL)
Russian Federation

Alexander A. Mokhov - Dr. Sci. (Law), Professor, Head of the Department of Medical Law, Kutafin Moscow State Law University (MSAL).

Sadovaya-Kudrinskaya St., 9, Moscow, 125993.

N. O. Pozdnyakov
Yaroslavl State Medical University
Russian Federation

Nikolay O. Pozdnyakov - Cand. Sci. (Medicine), Researcher, Department of Clinical Pharmacology and Drug Use Ethics under the auspices of UNESCO, Yaroslavl State Medical University.

Revolutsionnaya St., 5, Yaroslavl, 150000.

A. E. Miroshnikov
Yaroslavl State Medical University
Russian Federation

Alexey E. Miroshnikov - Cand. Sci. (Medicine), Researcher, Department of Clinical Pharmacology and Drug Use Ethics under the auspices of UNESCO, Yaroslavl State Medical University.

Revolutsionnaya St., 5, Yaroslavl, 150000.

A. N. Yavorsky
Pushchino State Institute of Natural Science
Russian Federation

Alexander N. Yavorsky - Dr. Sci. (Medicine), Professor, Chief Researcher, Pushchino State Institute of Natural Science.

Nauki Av., 3, Pushchino, Moscow Region, 142290.


1. Andersen, V. et al., (2009). Polymorphisms in the xenobiotic transporter Multipharmaceutical Resistance 1 (MDR1) and interaction with meat intake in relation to risk of colorectal cancer in a Danish prospective case-cohort study. BMC Cancer, 9, p. 407.

2. Artene, S.A., Ciurea, M.E., Purcaru, S.O. et al., (2013). Biobanking in a constantly developing medical world. The Scientific World Journal, 343275, 1-4.

3. Assabler, M., Zatloukal, K., (2007). Biobanks: transnational, European and global network. Brief. Funct. Genomic. Proteomic, 6(3), pp. 193-201.

4. Avdeyev, R.M. et al., (2010). Genetic Polymorphism and Ethnic Aspects of Pharmacogenetics. Medical Genetics. 5(6), pp. 11-15. (In Russ.).

5. Bateman, E.D., Kommann, O., Schmidt P. et al., (2011). Tiotropimn is noninferior to salmeterol in maintaining improved lung function in B16-Arg/Arg patients with astluna. Journal of Allergy and Clinical Immunology, 128(2), pp. 315-322.

6. Borodulin, V.D. et al., (2011). Association of Polymorphism of CYP2D6 and CYP2C9 Genes Encoding the Proteins of Cytochrome P-450 with the Degree of Arterial Hypertension. Saratov Journal of Medical Science and Research, 8(4), pp. 933-937. (In Russ.).

7. Cambon-Thomsen, A., Rial-Sebbag, E. and Knoppers, B.M., (2007). Trends in ethical and legal frameworks for the use of human biobanks. The European Respiratory Journal, 30(2), pp. 373-382.

8. Campbell, L.D. (ed.), (2012). 2012 Best Practices for Repositories Collection, Storage, Retrieval, and Distribution of Biological Materials for Research. 3rd edn. International Society for Biological and Environmental Repositories. Biopreservation and Biobanking, 10(2), pp. 79-161, doi: 10.1089/bio.2012.1022. Available at: https://www.ncbi.

9. Caulfield, T., Burningham, S. and Joly, Y. et al., (2014). A Review of the Key Issues Associated with the Commercialization of Biobanks. Journal of Law and Biosciences, 1(1), pp. 94-110.

10. Chinn, L. and Kroetz, D., (2007). ABCB1 Pharmacogenetics: Progress, Pitfalls, and Promise. Clinical Pharmacology & Therapeutics, 81(2), pp. 265-269.

11. Cochran, W.G., (1963). Sampling Techniques. 2nd ed. New York: John Wiley and Sons, Inc.

12. Collet, J.P., Hulot, J.S., Pena, A. et al., (2009). Cytochrome P450 2C19 polymorphism in young patients treated with clopidogrel after myocardial infarction: A cohort study. Lancet, 373, pp. 309-317.

13. Critchley, C., Nicol, D., Otlowski, M. and Stranger, M., (2010). Predicting intention to biobank: a national survey. The European Journal of Public Health, 22(1), pp. 139-144.

14. Ernest, S. and Bello-Reuss, E., (1998). P-glycoprotein functions and substrates: possible roles of MDR1 gene in the kidney. Kidney International Supplements, 65, pp. 11-17. (In Russ.).

15. European Council. Ethical considerations for clinical trials on medicinal products conducted with minors. (2017). Recommendations of the expert group on clinical trials for the implementation of Regulation (EU) No 536/2014 on clinical trials on medicinal products for human use. Available at: (Accessed 21 April 2021).

16. European Council. Ethics for researchers. Facilitating research excellence in FP7. (2013). Luxembourg: Publications Office of the European Union. Available at: (Accessed 21 April 2021).

17. Fortier, I., Doiron, D., Burton, P. et al., (2011). Invited commentary: consolidating data harmonization — how to obtain quality and applicability. American Journal of Epidemiology, 174, pp. 261-264.

18. Gorin, I.O., Petrushenko, V.S., Zapisetskaya, Yu.S., Koshel', S.M. and Balanovskiy, O.P., (2020). Population Biobank Application for Analyzing the Frequencies of Clinically Significant DNA Markers in the Population of Russia: Bio-informational Aspects. Cardiovascular Therapy and Prevention, 19(6), pp. 27-32, doi:10.15829/1728-8800-2020-2732.

19. Hawkins, A.K. and O'Doherty, K.C., (2011). «Who owns your poop?» Insights regarding the intersection of human microbiome research and the ELSI aspects of biobanking and related studies. BMC Medical Genomics, 11(4), p. 72.

20. Holub, P., Swertz, M., Reihs, R., van Enckevort, D., Muller, H. and Litton J.E., (2016). BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples. Biopreserv Biobank, 14(6), pp. 559-562.

21. Karpenko, M.A., (2007). Arterial Hypertension: Age, Gender and Genetic Peculiarities. Doctoral Dissertation (Doctor of Medical Science). Moscow. (In Russ.).

22. Kauffmann, F. and Cambon-Thomsen, A., (2008). Tracing biological collections: between books and clinical trials. JAMA, 299(19), pp. 2316-2318.

23. Khokhlov, A.L. et al., (2012). Importance of Determining the Polymorphisms of the Genes Responsible for the Activity of AngiotensinConverting Enzyme in the Patients with Arterial Hypertension and Chronic Cardiac Insufficiency for Optimizing the Arterial Hypertension Treatment Standards. Problems of Standardization in Healthcare, 4, pp. 41-44. (In Russ.).

24. Khokhlov, A.L. et al., (2017). Theoretical and Practical Foundations for Conducting Research of Generic Drugs: Monograph. Moscow-Yaroslavl-Prague: Photolife Press. (In Russ.).

25. Khokhlov, A.L., Kukes, V.G. and Sychev, D.A., (2016). Approaches to Pharmacogenetic Studies of the Diseases Associated with Lipid Metabolism Disorders and Atherosclerosis. Moscow: Yaroslavl Press. (In Russ.).

26. Khokhlov, A.L., Pozdnyakov, N.O. and Rybachkova, Yu.V., (2016). Importance of Pharmacogenetic Studies for Various Forms of Cardiac Ischemia. Yaroslavl: Remder Press. (In Russ.).

27. Klaassen, C.D. et al., (2010). Xenobiotic, bile acid, and cholesterol transporters: function and regulation. Pharmacological Reviews, 62(l), pp. 1-96.

28. Konstantinos, G., (2020). Regulatory Aspects of Genomic Medicine and Pharmacogenomics, in Patrinos, G.P., (ed.) Applied Genomics and Public Health. Elsevier: Academic Press, pp. 345-360, doi:10.1016/b978-0-12-813695-9.00020-0.

29. Kosilkin, S.V., (2020). Experience of Legal Regulation of Biobank Activities in Global Practice and Development of Russian Legislation. Courier of Kutafin Moscow State Law University (MSAL), 4(68), pp. 7987. (In Russ.).

30. Kukes, V.G., Bochkov, N.P., (2007). Clinical Pharmacogenetics. Moscow: Geotar-Media Press. (In Russ.).

31. Lunshof, J.E., Chadwick, R., Vorhaus, D.B. et al., (2008). From genetic privacy to open consent. Nature Reviews Genetics, 9(5), pp. 406-411.

32. March, R., Cheeseman, K., and Doherty, M., (2001). Pharmacogenetics — legal, ethical and regulatory considerations. Pharmacogenomics, 2(4), pp. 317-327, doi:10.1517/14622416.2.4.317.

33. Matsui, S., (2013). Genomic Biomarkers for Personalized Medicine: Development and Validation in Clinical Studies. Computational and Mathematical Methods in Medicine. Available at:

34. Morozova, T.E. et al., (2016). Pharmacogenetic Approaches to Forecasting the Efficacy and Safety of Arterial Hypertension Pharmacotherapy. Healthcare Practitioner, 3, pp. 77-81. (In Russ.).

35. Ozawa, S., Soyama, A., Saeki, M., Fukushima-Uesaka, H., Itoda, M., Koyano, S., Sai, K., Ohno, Y., Saito, Y. and Sawada, J., (2004). Ethnic Differences in Genetic Polymorphisms of CYP2D6, CYP2C19, CYP3As and MDR1/ABCB1. Drug Metabolism and Pharmacokinetics, 19(2), pp. 8395.

36. Perez-Castrillon, J.L., AbadManteca L., Vega G. et al., (2010). Vitamin D levels and lipid response to atorvastatin. International Journal of Endocrinology. Available at: [Accessed 21 April 2021].

37. Ramenskaya, G.V., Faynshteyn, S.L. and Sychev, D.A., (2007). Importance of Change in the Functional Activity and the Amount of Expressed P-glycoprotein in Drug Pharmacokinetics. Experimental and Clinical Pharmacology, 70(1), pp. 72-80. (In Russ.).

38. Reznik, O.N., Kuz'min, D.O., Skvortsov, A.E. and Reznik A.O., (2016). Biobanks: an Invaluable Resource for Transplantation. History, Current State, Prospects. Bulletin of Transplantology and Artificial Organs, (4)XVIII, pp. 123-132. (In Russ.).

39. Sayamov, Yu.N., (2020). Bioethics and the Global Challenges. Documents and Reflections. Moscow: Veche publ. (In Russ.).

40. Scientific Centre for Expert Evaluation of Medicinal Products Federal Institution. Methodology Guidelines of the Scientific Centre for Expert Evaluation of Medicinal Products Federal Institution? (2012). Available at: [Accessed 21 April 2021].

41. Scientific Centre for Expert Evaluation of Medicinal Products Federal Institution. Evaluation of Bioequivalence of Drugs. (2008). Methodology Guidelines of the Scientific Centre for Expert Evaluation of Medicinal Products Federal Institution. Available at: [Accessed 21 April 2021].

42. Sokolov, A.V., Kukes, V.G., Bunyatyan, N.D. et al., (2015). Pharmacokinetic Approach to the Issue of Drug Interchangeability. Biomedicine, 3, pp. 43-51.

43. Sychev, D.A. (ed.), (2009). Recommendations for Pharmaceutical Companies on the Study of Biotransformation and Transporters of New Pharmaceuticals: Research Design, Data Analysis and Information Entry into Directions for Use. Available at: [Accessed 21 April 2021].

44. Sychev, D.A. et al., (2011). Pharmacogenetic Technologies of Personalized Medicine: Optimization of Drug Administration. Terra Medica, 1, pp. 4-9.

45. Sychev, D.A., (2016). Pharmacogenetic Testing in Clinical Trials. Pharmacogenetics and Pharmacogenomics, 1, p. 13. (In Russ.).

46. The International Council for Harmonisation. ICH Harmonized Guidelines. ICH E18 Guideline on Genomic Sampling and Management of Genomic Data. (2017). Available at: [Accessed 21 April 2021].

47. The Organisation for Economic Co-operation and Development (OECD). Creation and Governance of Human Genetic Research Databases. Glossary of Statistical Terms. (2006). Available at: [Accessed 1 Aug 2016].

48. Varkhotov, T.A., Gavrilenko, S.M., Stambol'skiy, D.V., Ogorodova, L.M., Bryzgalina, Ye.V. and Alasaniya, K.Yu., (2016). Objectives of Social and Humanitarian Support during Creation of a National Depository Bank for Biomaterials in Russia. Issues of Philosophy, 3, pp. 124-138. (In Russ.).

49. Yakusheva, E.N., Chernykh, I.V. and Biryukova, A.S., (2011). Characteristics of P-glycoprotein as a Medication Transporter. Pavlov Russian Medicine and Biology Bulletin, 3, pp. 142-148. (In Russ.).

50. Yuille, M., van Ommen, G.-J., Brechot, C. et al., (2007). Biobanking for Europe. Brief Bioinform. 9 (1), pp. 14-24, doi: 10.1093/bib/bbm050.

51. Zika, E., Paci, D., Baumen, S. et al., (2010). Biobanks in Europe: prospects for harmonisation and networking. JRC Scientific and Technical Reports. L.: Publications Office of the European Union. Available at: [Accessed 1 Aug 2016].


For citation:

Khokhlov A.L., Romanov P.A., Mokhov A.A., Pozdnyakov N.O., Miroshnikov A.E., Yavorsky A.N. Genetic Research Application in the Study of Pharmaceuticals. Kutafin Law Review. 2021;8(1):3-35.

Views: 178

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.

ISSN 2713-0525 (Print)
ISSN 2713-0533 (Online)