Personalized Medicine: Realities and Prospects
The development of genetics, molecular and cellular biology has changed the understanding of the nature of many diseases and approaches to their treatment and prevention. Despite the introduction of unified international protocols for the treatment of various diseases, a new area of science is actively developing in modern science – personalized or precision medicine. The latter involves an individual approach to the treatment of diseases based on the results of studies of the genome, proteome, glycome, and microbiome of a particular patient.
Today, personalized therapy is mainly used in small groups of patients with rare diseases and/or in case of ineffectiveness of conventional treatments or contraindications to them. The main vectors of personalized medicine are cancer, obesity, bronchial asthma, diabetes, mental illness, gout, etc.
The emergence of personalized medicine is driven by the lack of effectiveness of conventional treatments and attempts by scientists to predict the effect of pharmaceuticals on individual patients. It is known, for example, that the effectiveness of antidepressants is no more than 40%, and of anticancer therapy – 75%. According to scientists, the creation of large databases based on the results of large population genome studies will allow the modeling of the transcriptomic profile of drugs.
The development of personalized medicine is also facilitated by the increasing number of biobanks in the world, where cord blood stem cells, other human tissues, and cells that can be autologously used to treat diseases are stored. Personalized storage of biomaterial is considered a type of bioinsurance and is gaining popularity in countries with high social standards.
The basic principle of personalized medicine is the selection of an individual treatment regimen based on the determination of correlations between the genotype of a particular patient and data on the phenotype of his or her disease. This has become possible thanks to the creation of large electronic databases containing genotyping results of large cohorts of patients. Currently, more than 6,000 rare diseases have been described, 80% of which are genetically determined.
Personalized medicine is most widespread in preventive oncology, where screening programs are based on the identification of gene mutations. In particular, women with BRCA1 or BRCA2 (breast cancer antigen) gene mutations have a 45-65% chance of developing breast cancer by the age of 70, and if they have an APC gene mutation, colon cancer develops by the age of 40-50. In both cases, organ resection is considered to prevent malignant disease. To date, genomic associations with rheumatoid arthritis and deforming osteoarthritis have also been widely studied.
The most promising method of personalized cancer therapy is the use of T cells with a chimeric antigen receptor, the so-called CAR-T cells. CAR-T lymphocytes are obtained by gene editing using clustered regularly interspaced short palindromic repeats (CRISPR) technology from the patient’s own T-lymphocytes. CAR-T lymphocytes transfused to the patient recognize tumor surface antigens regardless of the underlying histocompatibility system, proliferate and destroy tumor cells based on the principle of antigen response. The international clinical trials database contains more than 500 clinical trials investigating the safety and efficacy of CAR-T lymphocyte therapy. B-cell lymphomas are considered to be the most promising indication for CAR-T cell therapy due to their selective and homogeneous expression of CD19 or CD20 antigens and easier access for CAR-T cells.
The results of modern research indicate the active implementation of the latest methods of personalized treatment in various fields of medicine, which are the therapy of choice for patients with an established molecular defect underlying the pathogenesis of the disease. The development of personalized medicine will be facilitated by the expansion of electronic databases of the genome, glycome, and microbiome for various diseases and their international integration. However, the disadvantage of personalized medicine is its high cost.