20 October 2021

Molecular genetic research

A test system for targeted cancer therapy has been developed in Russia

Irina Nevinnaya, Rossiyskaya Gazeta

Molecular genetic research (MGI) is now becoming the gold standard for choosing therapy for many types of cancer. They make it possible to differentiate different types of cancer of the same organ and, accordingly, the doctor gets the opportunity to select the drug specifically, to use exactly the drug that the patient needs.

Since last year, when a new type of testing was included in the CHI program, three thousand patients have already passed it and received the most effective therapy. But most importantly, Russian scientists have developed (and the Ministry of Health has already registered for use) our own system, which successfully competes with very expensive foreign tests.

Anyone who follows the news of oncology at least a little knows that in the last few years there has been a real revolutionary breakthrough in this field of medicine: personalized targeted therapy is increasingly used for cancer treatment – when a patient receives medicine in accordance with his individual characteristics. This facilitates treatment and leads to an improvement in the patient's quality of life. There are more and more targeted drugs on the market that are effective in patients with forms of cancer that could not be treated a few years ago. However, in order to prescribe such drugs, it is necessary to conduct a molecular genetic study. It is estimated that about 200 thousand patients need such testing every year in our country. MGI also solve other problems: with their help, you can assess the risk of getting sick with a particular type of cancer and, accordingly, take action long before the onset of the disease.

"Molecular genetic and immuno-histochemical studies have been carried out in advanced oncological institutions of the country for many years, and thanks to this, patients receive targeted drugs suitable for them and drugs from the group of immune checkpoint inhibitors. But in order for modern treatment to be equally accessible to patients in the regions, in recent years we have been actively promoting this technology throughout Russia," explained Professor Vera Karaseva, executive director of the Russian Society of Clinical Oncology (RUSSCO), which unites oncologists from all over the country. – We have managed to create a multifunctional infrastructure – several modern laboratories that perform such complex tests and accept biomaterials of patients from anywhere in the country. And in order for all this to work, a single information portal was created, with the help of which the doctor sends samples, receives the result and, accordingly, prescribes exactly the treatment that is shown to the patient based on the determination of the molecular profile of the tumor."

The project started when the MGI had just arrived in our country and had not yet entered the CHI. All tests were imported, purchased abroad, and this, of course, affected the cost of treatment. Now, thanks to the national project "Healthcare" and the federal project to combat cancer, the situation has changed: targeted therapy has become much more accessible.

Another step in the development of high-precision molecular genetic research in our country was made a year ago, when the domestic test system "Solo ABC" was created and registered for medical use. During its development, a group of young scientists of the OncoAtlas Center for Molecular Oncology used the most modern technology – new generation gene sequencing (NGS). This method has not been used before in our country when working with cancer patients.

"At first glance, such a study is more difficult to use and requires special equipment for gene sequencing. But in exchange for the complexity compared to the usual methods of MGI, we get much more complete information about the characteristics of patients and the identification of weak points of the tumor for the appointment of the most appropriate drugs. The test is universal, it allows you to see genetic breakdowns associated with four types of cancer at once: breast, ovarian, prostate and pancreatic. Its advantage is that it can identify cancer patients who would have been left without effective treatment earlier," Vladislav Mileyko, head of Oncoatlas, told RG.

The NGS-test has already proved in practice its advantage over other MGI methods in Moscow, Bashkortostan, St. Petersburg, Kursk and Tomsk regions. The capital became a pilot region where the new instrument was tested in comparison with the PCR method. Genetic studies of patients with pancreatic cancer and prostate cancer were performed on the basis of the famous metropolitan cancer hospital No. 62. According to Irina Demidova, head of the Molecular Biology laboratory, the NGS test revealed rare pathogenic variants in 10% of patients, while PCR showed none. During the year, about three thousand cancer patients have already been examined throughout the country.

"Oddly enough, the ethnic issue is also important in genetics. Slavs often accumulate some types of mutations that are already well studied. Other peoples have others, but they have yet to be studied in detail. In our country, where there is a cocktail of nations, it turned out that all mutations are mixed, and as a result, PCR testing only for frequent mutations allowed detecting no more than half of the carrier patients. That is, in fact, in half of the cases the test did not work," Irina Demidova explained.

That's why the Russian team had an idea: not to "chase" known mutations, but to read the entire gene in its entirety, thanks to which it is possible to detect even rare changes in genes associated with oncological diseases. This will allow targeted selection of therapy.

According to Mileyko, the appearance of a new test system is important not only for the treatment of cancer patients, but also for the study of healthy people for hereditary forms of cancer. But a lot needs to be done for its widespread implementation. First of all, to prepare personnel, and throughout the entire technological chain – from the competent collection of tumor biomaterial (now the quality of tumor samples often does not meet any standards), to the actual conduct of tests and to their decoding.

As for assessing the risks of cancer, the question arises: well, we will know that a person will develop cancer, and what next? How to protect yourself? Cut alive and healthy for now? Or do you need to know a little more about yourself in advance in order to register with a doctor and undergo an annual examination?

"I am convinced that it is better to know about cancer risks in advance," says Vladislav Mileyko. – I will give the results of a small study conducted in Israel. They compared the medical histories of patients with breast cancer – one group was tested with the help of MGI after the diagnosis, and in the second there were patients who learned that they had a mutation before cancer was diagnosed. So in the group in which they learned about the high risk of developing cancer earlier – as a result, the quality of life of patients was higher. They took care of themselves. They started treatment earlier. And it was gentle. Among them there were fewer women whose disease had reached the stage with metastases. Yes, they lived facing danger, but in the end they were able to receive treatment with the best result. In fact, cancer is the same chronic disease as all the others. And there is nothing terrible in its prevention to live happily ever after."

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