Basic principles of personalised medicine
Precision medicine aims to improve the quality of medical care through an individual approach to each patient. Modern technologies make it possible to take into account the genetic, biochemical and physiological characteristics of the body, which significantly improves the accuracy of diagnosis and the effectiveness of treatment.
• Accurate diagnosis of diseases using molecular genetic analysis. This process uses DNA testing and biomarkers to identify predisposition to pathologies. For example, the N.N. Blokhin National Medical Research Centre of Oncology actively uses genomic profiling of tumours, which allows for the prescription of targeted therapy for lung cancer and melanoma.
• Forecasting disease risks and developing preventive measures. Collection and analysis of data on hereditary risk factors helps to identify in advance the likelihood of developing chronic and oncological diseases. As part of the Genome of Russia project, research is being conducted into genetic predisposition to the most common pathologies.
• Optimal selection of therapy based on the patient’s genetic profile. A personalised approach helps avoid ineffective treatment and side effects. For example, pharmacogenetic testing of CYP2C19 helps select antiplatelet drugs for patients after stenting, increasing their effectiveness.
• Identification of mutations and polymorphisms that affect susceptibility to drugs. This aspect is especially important in the treatment of infectious diseases such as HIV and tuberculosis. Genomic profiling helps determine which drug regimens will be most effective.
The role of DNA in personalised medicine
Genetic information plays a key role in individualised therapy. Modern technologies make it possible to analyse DNA and use the obtained data to create personalised treatment plans.
• Genetic profile. DNA testing makes it possible to determine predisposition to diseases, as well as to select the most effective prevention and treatment strategy. Analysis of hereditary factors helps to identify the risks of cardiovascular, oncological and autoimmune pathologies.
• Pharmacogenomics. Genetic studies allow us to predict the body’s response to various drugs, which helps to avoid unwanted side effects and improve the safety of therapy. This approach is especially relevant in the treatment of chronic and complex diseases that require long-term medication.
• DNA editing. In the future, CRISPR/Cas9 technologies can be used to correct genetic mutations, which opens up new horizons for the treatment of hereditary diseases. These methods are still at the clinical trial stage, but in the future they may become an integral part of personalised medicine.
Application of DNA in various fields of medicine
The use of genetic analysis in various fields of medicine helps to improve the accuracy of diagnosis and the effectiveness of treatment. This is especially relevant for diseases that require an individual approach.
• Oncology. Genomic profiling of tumour tissues allows us to identify mutations that determine the growth of neoplasms. This makes it possible to select targeted therapy aimed at specific molecular mechanisms of cancer development.
• Gastroenterology. In this area, personalised medicine helps identify genetic predispositions to inflammatory bowel diseases, lactose intolerance and celiac disease, and develop individualised treatment plans.
• Cardiology. Genetic analysis helps to identify hereditary risks of cardiovascular diseases, which allows for early prevention and selection of individual treatment plans.
• Neurology. Personalised medicine is used to diagnose and treat neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease by identifying genetic risk factors.
Current state and development prospects of precision medicine in Russia
The country is actively working to integrate personalised medicine into the healthcare system. Clinical guidelines and protocols are created that take into account the individual characteristics of the patient. An important stage is the creation of a digital infrastructure for collecting, storing and analysing medical data. This will allow us to identify patterns in a timely manner and develop new diagnostic and treatment methods.
One of the largest projects in this area is the Federal Genomic Platform, launched in 2023 with a budget of 23 billion rubles. It combines genetic research data into a single database and integrates with the healthcare system, allowing for improved diagnostic and therapeutic methods.
Problems and challenges
Despite its active development, the implementation of personalised medicine faces a number of difficulties. These problems require an integrated approach to solve them effectively.
• High cost of genetic testing and molecular diagnostics. Conducting full-genome sequencing in Russia costs about 45 thousand rubles, which significantly exceeds the cost of similar studies in Europe. This makes the technology less accessible to the general population.
• Low awareness among doctors and patients. Only 37% of primary care physicians have completed genomics training, limiting their ability to apply new technologies in practice. Raising awareness is an important factor for the successful implementation of personalised medicine. It is important to raise the level of awareness not only among doctors, but also among the entire population.
• Gaps in legislation and bioethical issues. Issues regarding ownership of biomaterials and the protection of patients’ personal data remain unresolved. This requires revision of the regulatory framework. Issues of privacy, informed consent and the potential social implications of genetic testing and DNA editing need to be carefully considered.
• Risks of storing and processing personal data. 68% of patients express concern about possible leaks of genetic information, highlighting the need to create robust data protection mechanisms.
• Limited availability. In addition to the high cost of genetic testing, there are other factors that limit accessibility, such as the geographic remoteness of medical centres and the lack of qualified specialists.
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Individualisation of treatment protocols
The introduction of individual treatment protocols based on data on the patient’s genetic profile and the characteristics of the disease’s course is one of the key areas of development. This allows us to increase the effectiveness of medical care and reduce the risk of complications. An example of the implementation of an individualised approach is 3D bioprinting of personalised implants, which is actively used at the Priorov Research Institute of Traumatology. This method significantly improves the results of treatment of complex injuries, reducing the likelihood of complications and accelerating rehabilitation.
Personalised medicine opens up new horizons in diagnostics and treatment, allowing the genetic characteristics of each patient to be taken into account. However, for its successful full implementation, it is necessary to resolve organisational, economic and ethical issues, as well as ensure the availability of modern technologies for all citizens.