03 November 2015

Yakutia has developed software for pharmacogenetics


Personalized medicine based on molecular technologies is taking its first steps. Molecular information, which appeared due to the analysis of the human genome, has not yet been widely used in practical medicine.

What is the new medicine striving for?Currently, more than 2 million cases of adverse drug reactions and approximately 160 thousand cases of deaths caused by side effects of medicines are registered annually in the world.

According to WHO, medications are ineffective in an average of 40% of patients. One of the ways to improve the effectiveness and safety of pharmacotherapy is the introduction of personalized medicine technologies into clinical practice. Personalized medicine is an innovative method of prevention, diagnosis and treatment based on knowledge of individual genetic and functional characteristics of an individual. Currently, more and more research is being conducted in the field of personalized medicine and pharmacogenetics. And thus the number of medicines for which pharmacogenetic information is available increases. A pharmacogenetic test is the identification of specific genotypes associated with a change in the pharmacological response. The use of such tests allows you to predict in advance the pharmacological response to the drug.

Yakut geneticists managed to develop a program on pharmacogenetics, which became a pioneer in the field of personalized medicine in Russia. Based on their analyses, it is possible to determine sensitivity to certain medications. The "trial and error" method, when the doctor prescribes the first, then the second, may soon become a good old story.


Traditional medicine, from the standpoint of which decisions are currently being made on the appointment of a particular type of treatment, gives only an average idea of the patient. Nevertheless, in real clinical practice, a person's response to treatment depends on many individual characteristics: age, sensitivity to medications, genetic characteristics of the patient, and so on. All these factors influence the possible development of adverse reactions or the ineffectiveness of a particular treatment. In this regard, the concept of personalized medicine appeared, to which the healthcare system is heading.

Biological microchips – biochips, or, as they are more often called – DNA microarrays (organized placement of DNA molecules on a special carrier) is one of the newest tools of biology and medicine of the XXI century. The microscopic size of the biochip allows you to place a huge number of different DNA molecules on a small area and read from this area information about thousands of different genetic defects, oncogenes, proteins and non-protein metabolites, allergens, which opens up fantastic opportunities for genetic diagnosis and the development of personalized genomic medicine.

There is a solutionThe small innovative enterprise "LLC "Genodiagnostics"" of the North-Eastern Federal University has been operating since 2011.

MIP specializes in the introduction of advanced medical services in the field of medical genetics. The company uses innovative technologies for the diagnosis of hereditary and hereditary-predisposed diseases based on biological microchips.

Last year, the company received investments in the amount of 1.8 million rubles from the Yakutia venture company for the implementation of a new direction – a project that intends to help in the development of personalized medicine in the region. Then local polyclinics and hospitals only dreamed of a special program that automatically issues conclusions of the results of pharmacogenetic testing. The project has the full name "Development and creation of a software tool for clinical pharmacogenetics of the biotransformation system and drug transporters". It is aimed at developing and creating a software tool necessary to provide specialists of scientific and clinical laboratories, healthcare institutions with new effective means of automated processing and interpretation of pharmacogenetic testing results.

The use of such tests allows you to predict in advance the reaction of the body to the drug and approach the choice of the drug and its regimen individually. Previously, all this was done manually, now the results of the analyses can be obtained in two or three days, the company's employees say.

According to the director of the small innovative enterprise NEFU "LLC "Genodiagnostics" – the author of the project, Doctor of Medical Sciences, geneticist of the highest category Nadezhda Maksimova, currently there are no software applications that allow you to quickly and effectively carry out the results of pharmacogenetic studies that take into account ethnic differences.

About the program: how it worksThe program works simply and quickly.

This is something similar to a diagnostic test, the result of which gives out certain markers created for the genetic passport of a particular person.

The software tool is intended for a wide range of medical specialists: clinical pharmacologists, medical geneticists, therapists, cardiologists, cardiac surgeons, neurologists, psychiatrists, oncologists, hematologists, transplantologists, infectious diseases specialists, pediatricians, gastroenterologists, laboratory diagnostics specialists, health care organizers.

This program will be used by institutions of the Ministry of Health of the Republic of Sakha (Yakutia) – Republican Hospital No. 1, Republican Hospitals No. 2 and No. 3 and other private clinics and hospitals in Russia engaged in pharmacogenetic testing.

"The program automatically issues conclusions based on the administered 21 drugs of 11 pharmacological groups: statins, beta-blockers, anticoagulants of indirect action, antiplatelet agents, antidepressants, immunosuppressants and other drugs," comments the author of the project Nadezhda Maksimova. – The product reduces the time and labor costs of employees, increases the efficiency of their work. In comparison with domestic and foreign analogues, the software tool developed by us has a unique ability to carry out automated interpretation of the results of pharmacogenetic testing of medicines, taking into account certain individual and ethnic characteristics of the tested patients."

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03.11.2015
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