State advantageous to have an economically active citizen, than to keep disabled

In recent years in the world of medical genetics has been a real breakthrough. New medicines through which have learned to treat disease, cure which recently even anticipated. As far as the development of the Russian medical genetics corresponds to the global trends?

Sergey Kutsev: In the world, indeed, occurred very serious changes in the field of genetics. They happen literally before our eyes, and we are talking primarily about new approaches in the treatment of orphan genetic diseases. First of all there is to say about classical gene therapy. She has nearly 30 years, and the long development has led to the fact that, for example, a few years ago appeared the first drug for the treatment of a very rare hereditary disease (1 case per 1 million), which is characterized by increase in triglycerides in the blood. The disease is accompanied by acute pancreatitis and can lead to death. Unfortunately, not all of the goals the developers of the drug have been achieved, widespread it is not found, and the high cost of treatment was unjustified.

However, development of such drugs continued. The result is a drug that can be called a real breakthrough in the world of genetics, used for treatment of spinal muscular atrophy. From this disease the child dies, as a rule, in the second year of life. So today, a single administration of this drug leads to an almost complete cure of such a severe hereditary disease. Therefore, despite the high cost of treating one child – more than $2 million – the price of the drug is justified.

And now of course we see great prospects of this direction, because in addition to these drugs at present, there are already a number of advanced clinical trials for the treatment of the same gene-therapy methods and other hereditary orphan diseases, among which phenylketonuria, hemophilia, some hereditary diseases WSOena.

If we talk about the domestic developments, I would say that our pharmaceutical industry is now turning its attention to the problems of patients with orphan diseases, and we follow the global developments. With regard to diagnosis and early diagnosis very important for treatment of rare diseases, it in our country is organized on a global level. And the issue here is not only in the availability of genetic diagnosis, but also in the fact that in addition to conventional methods, such as molecular genetics, we use the latest technology of massive parallel sequencing (sequencing of the new generation). These technologies allow us to diagnose a wide range of hereditary diseases.

In April last year at the Federal level was approved by the scientific-technical program of development of genetic technologies. As far as its content corresponds, in your opinion, the needs of medical genetics in Russia?

Sergey Kutsev: the Program of development of genetic technologies is quite extensive. Very important for us section on the creation in Russia of centers of genomic research at the international level. To date, three such centres: one of them is engaged in Biosafety (this refers to infectious agents), the second – genetic technology in agriculture, and the third – genetic technologies in medicine. Under the program, as a basic guideline deals with the editing of the genome. This decision of the government we support with both hands, because it is aimed at fostering research in the field is very promising technology, the technology of genome editing. This is the next phase in medical genetics. It is how to get the cells directly from the patient to edit the genome, that is, to correct the defect that arose in these cells, and transplanting them back to the cells subsequently multiply and, accordingly, began to produce the necessarynecessary body substances. This approach is very promising, it relates to the gene-cell technology. And, of course, the development of these technologies it is necessary to invest now, because that’s the future.

You have repeatedly said that the qualification of Russian geneticists are highly valued on a global level. At the same time, the personnel issue is one of the most serious in today’s genetics in Russia. Suffice it to say, doctors-geneticists, who are involved in the identification of orphan diseases in the country, only about 350. How is this problem solved at the Federal level?

Sergey Kutsev: the Shortage of personnel in genetics in Russia is pretty decent. In some regions of the country there are only one to two doctors-genetics in the region. Frames for genetics to prepare necessary. Needed professionals, especially doctors-genetics, doctors – genetics laboratory.

in addition, there is a problem in the education of doctors of all specialties – neurologists, nephrologists, ophthalmologists, cardiologists and so on. In practice, any doctor can meet a genetic disease. Therefore, genetics, ranging from inheritance laws to the clinical manifestations of some diseases, doctors of different specialties just have to know. The fact that undergraduate education of doctors is paid to genetics now, few hours of study. On the other hand, specialists for teaching genetics in more than 50 medical universities in the country is also not enough.

What is the output?

Sergey Kutsev: In early February at the meeting of the academic Council approved my proposal to create a large scientific and educational centre on the basis of our Medico-genetic scientific center named after academician N. P.Bochkova. We planned for 2020, the establishment of more than 15 departments in our centre and already certain areas, among which neurogenetics, ophthalmic genetics, cardiogenetics and so on. These chairs will be required to take the advanced training of physicians of different SPEcelesta in the field of genetics. So now we are talking about postgraduate education simply because the urgent need to train people who are already in practice, who would now be able to work and to identify patients with hereditary diseases at an early stage. Of course, it is necessary to engage students, education at undergraduate level, but I think now we have to “extinguish the fire”. And gradually increase the share of education in genetics for students of all medical universities. For refresher training we’re going to have about 100 of geneticists who could teach. And of course, intend to look for partners among medical universities in the country.

what are the main directions currently your genetic center?

Sergey Kutsev: Our institution is primarily a scientific center, which is the study of the etiology, pathogenesis, development of diagnostic approaches, prevention hereditary, including orphan diseases. Despite the fact that we diagnose a disease, we can diagnose any of the hereditary diseases described in the world practice.

our Second destination – medicine. Every year we take more than 11 thousand patients. And when you consider that advise usually the whole family, it is more than 20 thousand people per year. Speaking of laboratory studies, in the year we spend more than 70 thousand genetic research, and on this indicator are the largest centre in Europe. According to my calculations, about 90% of diagnoses of hereditary diseases in the country were set in the walls of our institution.

And third we focus on education. To us comes more and more residents and graduate students. Now, if you count in all the courses, internship and graduate school trained more than 50 people. That’s a lot. I’m sure it will be a high level of doctors and scientists.

You have repeatedly talked about the need to expand screening to 41 nosology. What has been achieved in this direction today? How effective it can be in terms of preventing the development of illness and subsequent disability of the patient?

Sergey Kutsev: At the end of December last year, we almost agreed on a program of extending screening up to 39 diseases. Of course, it is difficult to expand screening to more than 1.65 million newborns per year. But this program will allow us to annually identify more than 2 thousand children, you can help. To make it clear – those children who could die in the first year of life or during childhood, or become disabled. If we identify hereditary diseases in the first days of life, in most cases we can help them to avoid death and disability.

If we talk about pharmacoeconomics, the treatment of children in these cases are relatively inexpensive and can become a large financial burden for the state. The treatment of one such patient is estimated to be worth about 500 thousand rubles.

So even those who say that the treatment of orphan diseases is expensive and costly, I can assure you that the state advantageous to have an economically active citizen than many years, to include the disabled. This path is calculated and passed in many States. In addition, the screening in this case is one of the mechanisms capable of improving the demographic indicators of the country. We hope that an expanded screening across the country will be able to start in the last quarter of 2021.

the impression that in the last year or two orphan diseases are increasingly get into the focus of attention of both society and government. In particular, it greatly expanded the list of orphan diseases of the WNV program. How do you assess the prospects for federalization, and that more needs to be done to improve the situation with rare diseases in Russia?

Sergey Kutsev: Attention to orphan diseases from the state the actubut I grew up. First, there is more understanding that this is a great medical and economic problem that needs to be addressed. By the way, according to one study, about 40% of the seats in children’s hospitals today takes children with a serious hereditary, including orphan, diseases. And expansion of screening in this case is one of the tools to change these statistics for the better. Secondly, a social problem that society can not bear to look on the suffering of children, especially when there are ways to help children with serious illnesses to remain in society and thrive together with their peers.

In my opinion, the most important thing now is to improve the skills of physicians-geneticists, laboratory geneticists, and strengthen medical genetic service in all regions. This will help to put the correct diagnosis in patients with orphan diseases. Next, we need to address questions about the creation of domestic products, modern technological approaches, classical gene therapy to develop genome editing.

on the question of the extension of the list of high-cost nosologies (VZN) that is financed at the Federal level, I am sure that gradually we have to include all orphan diseases for which treatment today there are drugs. So today on the queue can be diseases such as disease, Niemann-pick, Fabry, and others. Federalization would not only reduce the financial burden on the regions, but also will allow to solve the problem of early diagnosis of orphan diseases, and therefore, the assistance provided and the patient and his family will become more effective. In the end, with timely start of treatment, patients with these diagnoses remain economically active, reduced social burden on the budget.

in addition, under this system, a much higher control over the correctness of appointments, expensive medications and monitoring their effectiveness. A fixed price for drugs under centralized procurement havedischarges are much lower than what we saw in procurement in the regions. I believe that the government will not be able to get away from this problem and definitely solve it. There’s no other way.

Photo: iStock”Rare” optimized

one of last year’s sittings of the chamber of regions, the Chairman of the Federation Council Valentina Matvienko said that the purchase of medicines for treatment of orphan (rare) diseases will be funded from the Federal budget in 2021. “There is the prospect that in 2020 we will close another five diseases and in 2021 will complete the transfer of funding for the procurement of medicines for people with orphan diseases in full at the Federal level”, – promised the Chairman of the Federation Council.

Since the formation of the list it was 7 nosologies. Last year, the list of WNV were added to the 5 diseases that have moved from the so-called “List-24”, containing a list of orphan diseases, drugs for the treatment of which can be purchased at the expense of regional budgets. The necessity of transferring diseases from the “List of 24” at the Federal level due to the fact that regions do not always cope with the task timely and complete provide patients with appropriate drugs, there were difficulties and the threat of treatment interruption for orphan patients. According to the Executive Director of the Union of patients and patient organisations on rare diseases Denis Belyakov, despite the fact that the availability of therapy with the diagnosis from the regional list of “24 nosology” in Russia enshrined in law, the situation with treatment is not very favourable: there were cases, when, for example, the patient diagnosed with Fabry prescribed therapy is needed, but the regional authorities have not always managed to Finance the provision of medication and treatment was interrupted.

today in the regional list there were 19 diseases, among which, besides the above-mentioned Fabry disease, Niemann-pick disease, arterial LeJonker hypertension, idiopathic thrombocytopenic purpura (ITP), phenylketonuria (PKU) and others. This is a severe genetic disease, leading to disability and often to death.

Experts say that the introduction of rare diseases in the WNV program will allow patients to get necessary drugs fully. In addition, the federalization of orphan diseases provides pricing transparency in the procurement of products and flexibility of a regional supply of medicines. It is very important that patients even with severe orphan diagnoses whose treatment begins in a timely manner, throughout their life are able to remain economically active members of society, is no different from a healthy person.