Scientific Basics of Personalized Medicine: Realities and Opportunities

ISSN 1019-3316, Herald of the Russian Academy of Sciences, 2022, Vol. 92, No. 6, pp. 671–682. © Pleiades Publishing, Ltd., 2022. Russian Text © The Author(s), 2022, published in Vestnik Rossiiskoi Akademii Nauk, 2022, Vol. 92, No. 12, pp. 1105–1118. On the Rostrum of the RAS Presidium Scientific Basics of Personalized Medicine: Realities and Opportunities E. V. Shlyakhto# Almazov National Medical Research Center, Ministry of Health of Russia, St. Petersburg, Russia e-mail: Received January 12, 2022; revised January 17, 2022; accepted June 21, 2022 Abstract—Modern trends in the development of health care suggest its focus on the interests of the patient and its holistic nature, as well as deep penetration into all parts of health care information technology. The driving force behind the ongoing changes, of course, are scientific achievements, the importance of which in the development of new medical technologies and the creation of innovative diagnostic devices, as well as medicines, has grown significantly in recent years. These processes provide conditions for the introduction into clinical practice of a new model of medical care—personalized medicine, based on the choice of methods of diagnosis and treatment with account for the individual characteristics of the course of the disease, as well as the patient’s lifestyle. Personalized medicine technologies, which involve the creation of an appropriate, often expensive, infrastructure of omics technologies, should ultimately lead to an increase in the efficiency, quality, and, most importantly, safety of medical care. In the Russian Federation, this area is actively developing in four world-class research centers, including the Almazov National Medical Research Center. The current state and prospects of research in the field of personalized medicine are discussed in this article, prepared by the author on the basis of his scientific report at a meeting of the Presidium of the Russian Academy of Sciences. Keywords: personalized medicine, biomedicine, biomarkers, omics technologies, world-class research center DOI: 10.1134/S1019331622060041 Since the beginning of the 21st century, biomedicine has developed rapidly, accumulating the achievements of basic sciences in the field of medical research and focusing on their use in real clinical practice. Life sciences have been included in the development programs of the world’s leading universities and have become their main driving force. Research in the field of mathematics, physics, chemistry, and biology has opened up the possibility of deep penetration into the intimate mechanisms of the occurrence of the most significant human diseases: oncological, cardiovascular, and many hereditary. Genetic technologies are being developed intensively, which made it possible to identify the genetic causes of almost any pathology and determine the sequence of the entire human genome. Based on these data, gene therapy began to be used in clinical practice, including genome editing technologies, which made it possible to select methods individually for the treatment of severe hereditary diseases [1]. Based on the achievements of synthetic biology, genomics, proteomics, metabolomics, bioinformatics, # RAS Academician Evgenii Vladimirovich Shlyakhto is Director General of the Almazov National Medical Research Center of the Ministry of Health of the Russian Federation. and other related disciplines, a new model of medical care is being formed—personalized medicine, which involves the choice of optimal diagnostic, therapeutic, and preventive approaches for a particular patient, taking into account his/her specific biomarkers (including genetic ones), which help the doctor determine which treatment method is most effective. Personalized medicine is often called precision medicine due to its focus on identifying key factors in the development of the disease (thanks to biomarkers; molecular pathways of pathology; and genomics, proteomics, and metabolomics data), as well as considering the patient’s lifestyle and environmental factors. Since it may be difficult to individualize treatment fully, including for economic reasons, precision medicine uses unique (“point”) protocols designed for stratified patient groups. It should be emphasized that these two concepts—personalized medicine and precision medicine—although not identical, are still very close in essence due to their common focus on the most important components of medical care for the patient, including: • risk assessment (genetic testing of predisposition to diseases), • prevention (intervention to prevent disease), 671 672 SHLYAKHTO • detection (early detection of diseases at the molecular level), • diagnostics (accurate diagnostics allows to individualize the treatment strategy), • treatment (improvement of outcomes due to more accurate targets of exposure and prevention of the side effects of therapy), • observation (active monitoring of response to therapy and a marker of disease progression). This is not to say that a personalized (individual) approach is something completely new for clinicians. Earlier, certain morphofunctional parameters were used for this, reflecting the level of development of medical science and practice corresponding to the time. It is safe to say that the principle of treating the patient and not the disease has been known and widely used since ancient times. However, “an integrated, coordinated, and individualized approach to analyzing the occurrence and course of diseases for each patient,” considering environmental factors and the lifestyle of each person, including “the development of personalized treatments based on genomics, testing for disease susceptibility, prevention, combining diagnostics with treatment and treatment monitoring” [2, p. 4], began to form precisely from the beginning of the current century. It took decades to move from the dominance of the concept of evidence-based medicine, in which the treatment of the patient was based mainly on data from randomized clinical trials calculated for the average patient to a healthcare model based on personalized care. It is this approach that makes it possible to detect quickly the targets for the effects of drugs and thereby achieve not only the best effect but also reduce the risk of developing adverse events due to the selection of the optimal drug dose. Finally, the possibility of making a more accurate and faster diagnosis, even when using expensive diagnostic technologies, will lead to significant savings in health care resources. Not to mention a significant reduction in mortality, especially among patients with oncological, neurological, cardiovascular, and other socially significant diseases. It can be assumed that personalized medicine will become a strong factor in shifting the focus from the treatment of diseases to their prevention. Faster patient access to information and better medical care will make it possible if not to pr (...truncated)