The genetics of the fetus will be studied before birth
The biofund of the Russian Venture Company (RVC) has invested in the Genetiko project to create a network of personalized medicine centers in Russia based on genetic research and the principle of an individual approach to the prevention, diagnosis and treatment of genetic diseases.
In the XIX century, the revolution in medicine was made by the idea of asepsis – the fight against infections before they penetrate into the patient's body. Doctors, simply put, began to wash their hands before performing manipulations with the patient, and in medical institutions began to take care of cleanliness. As a result, mortality, for example, during childbirth decreased several times. The second equally revolutionary breakthrough happened in medicine about a hundred years ago with the invention of antibiotics: many diseases that were previously considered fatal became easily curable. The third revolution in medicine, comparable in importance to the invention of hygiene and antibiotics, is happening today – so says the founder of "Genetiko" Artur Isaev. This revolution is connected with the idea of personalized medicine – an individual choice of therapy for each patient, depending on his individual genetic characteristics.
– The goal of our project is to introduce methods of prevention, prevention and treatment of diseases using genetic diagnostics into practical healthcare, – Artur Isaev told Izvestia. – We started with reproductive medicine.
Within the framework of the project, so–called preconceptional screening is being widely introduced into practice - a genetic study of couples planning childbirth to minimize the risk of hereditary diseases in the unborn child. If a high probability of such diseases is detected, then the risk of developing pathology in offspring can be prevented by in vitro fertilization (IVF) with preimplantation genetic testing (PGT). Simply put, future parents are recommended to do IVF, and before implanting an embryo into the mother's body, a PGT – genetic study of prepared embryos is carried out. With its help, the best embryo is chosen – the one that promises the minimum probability of developing a dangerous hereditary pathology.
Another direction of the project development is prenatal (prenatal) genetic examination of a pregnant woman, which makes it possible to diagnose the most frequent chromosomal abnormalities leading to the birth of a child with pathologies such as Down syndrome from the 10th week of pregnancy.
– Previously, DNA samples for prenatal diagnostics had to be sent to the USA, – Anton Vasiliev, chief investment officer of the RVC Infra-fund, the Biofund's management organization, told Izvestia. – But now the first specialized laboratory for fetal DNA research on the blood of a pregnant woman has appeared in Moscow in order to detect chromosomal abnormalities.
After the baby is born, it is the turn of neonatal screening, a genetic study for the early detection and prevention of the most common hereditary diseases that can be successfully treated and prevented if they are detected at an early stage.
Two more areas of personalized medicine developed within the framework of the project are oncogenetics (identification of genetic predisposition to breast cancer and other hereditary forms of cancer) and pharmacogenetics (selection of therapeutic drugs taking into account the genetic characteristics of the body).
– This famous story of Angelina Jolie, who inherited a mutation from her mother that leads to breast and ovarian cancer, is still being heard, – Vera Izhevskaya, deputy director of the Medical and Genetic Research Center of the Russian Academy of Medical Sciences, reminded Izvestia. – In such cases, timely genetic testing is important not so much for family planning and prenatal diagnosis, as for the choice of treatment methods.
Vera Izhevskaya believes that our legislation lags far behind technology in terms of development: in particular, it is it that prevents the widespread introduction of genetic research into medical practice. The process of certification of equipment, software and reagents intended for genetic testing is so regulated today that these products have to be positioned not as medical, but as purely scientific – and this creates serious obstacles to their use in clinics.
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