Rarity is a quantitative concept – Newspaper Kommersant No. 35 (7480) dated 03/01/2023

As follows from the estimates of the Expert Council on Rare Diseases under the State Duma Committee on Health Protection, at least 50,000 patients with rare diseases live in the Russian Federation. Most of them are provided with therapy by the budgets of the subjects of the regions, and often drugs are given to sick people only when they become disabled. Despite the expansion of medical care programs for “rare” patients, experts say that they need to include new rare diagnoses and unify the provision of benefits.

At least 50,000 patients with rare diseases can live in the Russian Federation, according to calculations published yesterday by the annual bulletin of the expert council on rare diseases under the State Duma Committee on Health Protection. Rare diseases are considered to be nosologies that are recorded in less than ten people per 100,000 population; there are 271 such diseases in the list of the Ministry of Health. Depending on the diagnosis, patients can receive therapy at the expense of the federal budget within the framework of the state program “14 high-cost nosologies” (VZN) or the “Circle of Kindness” fund (61 diseases). From the funds of the regions, those whose diseases are included in the list of regional benefits (rare life-threatening diseases (RHD) – 17 diseases) are provided. If the diagnosis is not included in the list of the Ministry of Health, you can get the necessary drugs only after the onset of disability. The Ministry of Health does not maintain a unified register of patients with rare diseases – data is available only in certain regions that have created such a register.

The expert council’s analysts’ calculations are based on a survey of 25 regions, where a quarter of the population of the Russian Federation lives, on the number of patients receiving drugs under a particular therapy program. As noted in the study, the relative homogeneity of the distribution of rare diseases allows us to consider its results representative for the entire country – 12.6 thousand patients counted in this way (almost half of them are children), give an estimate of 50 thousand people for the whole country. In the program context, the largest number of such patients receive therapy under the VZN program (5.1 thousand people), in second place are those who are provided with therapy due to disability (3.8 thousand people), another 3.6 are provided with regional benefits thousand. Annual costs per patient, as follows from these regions, can be 1–1.6 million rubles.

At the same time, the authors of the study note, the number of patients with “new” orphan diagnoses, who are not included in the lists and can receive therapy only upon reaching disability, is large – and it is time for the government to revise the list of diseases that give the right to medicines from the moment of diagnosis. “Over the past ten years, not a single “new” disease from the list of the Ministry of Health has been included in the lists of VZN and RZhD,” says Elena Krasilnikova, member of the expert council of the State Duma Committee on Health Protection (VZN expansion in 2012–2020 was due to the inclusion of diseases from the list RZhZ.— “b”.). As co-chairman of the All-Russian Union of Patients Yuri Zhulev points out, in recent years, thanks to the emergence of the Circle of Good Foundation, the list of diagnoses that allow patients to qualify for treatment has expanded significantly, but the foundation only provides treatment for people under 19 years of age, then they are transferred to the jurisdiction of the region. “Federal funding needs to be expanded to include adults,” he notes.

Anastasia Manuylova