Research Centre for Medical Genetics
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Sergey Kutsev proposed to create specialized departments in the regional Ministries of Health to work with the “Krug dobra” Foundation, at SPIEF 2022

The path from the moment of diagnosis of an orphan disease to the moment of receiving the drug can take several months. The reason for this is the low speed of collecting and processing documents in the regions. This was stated by Sergey Kutsev, Director of the Research Centre for Medical Genetics, chief freelance specialist in medical genetics of the Ministry of Health of the Russian Federation, at the session "Frequent talk about rare diseases: prospects for drug therapy" at the St. Petersburg International Economic Forum.

- Problems that arise at each stage are basically regional problems related to the collection of documents necessary for the “Krug dobra” Foundation. The Foundation does not require anything extra, but these documents are found to be collected in the regions for more than one month. Meanwhile, the early initiation of therapy is extremely important for our patients.

Sergey Kutsev sees a solution to this problem in the creation of specialized departments dedicated to the “Krug dobra” Foundation, in the regional Ministries of Health and the health departments of different regions of the Russian Federation.

- Today, it is not enough to have one specialist in each department that is responsible for work with the fund. It is necessary to create departments that would deal with orphan pathology in general, and not only have interaction with the “Krug dobra” Foundation. Assistance to patients can be organized effectively only through a multidisciplinary approach that includes diagnostics, treatment, and rehabilitation. For example, spinal muscular atrophy is characterized by involvement of many systems. Patients develop problems with digestion, breathing, and the musculoskeletal system, they need the help of doctors of various profiles. But in many regions today, little is known about how to provide them with comprehensive support. A multidisciplinary approach is possible only if regional ministries and departments are able to accumulate the efforts of specialists in various fields to help orphan patients, Sergey Kutsev said at SPIEF 2022.

Sergey Kutsev also noted that the terms for approving the application by the Expert Council of the fund should be reduced.

- The Expert Council of the “Krug dobra” Foundation gathers for weekly meetings, and additional meetings are also held regularly. However, a new drug on the fund's list is first approved by the board of trustees, and it is not always assembled as promptly as the expert board. As a result, the application for the drug is certainly going faster than it was before the foundation came into being, but for us clinicians, this still remains a long time. I would like to ask the management of the fund to simplify the passage of our applications. Perhaps an establishment of the stock of drugs could solve the problem.

Most of the diseases, the treatment of which is funded by the “Krug dobra” Foundation, are hereditary diseases. They affect various systems and organs, are characterized by early disability and high mortality. Most of the patients under the care of the foundation receive molecular confirmation of the diagnosis at the Research Centre for Medical Genetics.