"RARE RULES." ENSURING CARE FOR PATIENTS WITH ORPHAN DISEASES
Sergey Kutsev, Director, Research Centre for Medical Genetics; Chief External Expert in Medical Genetics of the Ministry of Health of the Russian Federation
Victor Fisenko, First Deputy Minister of Health of the Russian Federation
Dmitry Khubezov, Deputy, Chairman of the State Duma Committee of the Russian Federation on Health Protection
Just 20 years ago, patients with rare diseases had a disproportionately lower chance of receiving effective therapy than today. The development of science and production of pharmaceuticals shows multiple growth: every year innovative, breakthrough drugs enter the market, diagnostics improve, and awareness among doctors and patients increases. This is particularly evident in patients with orphan diseases. The quality of life of many of them has improved dramatically.
In Russia, a number of successes should be noted: the Circle of Good Foundation has been established to support children with complex and life-threatening conditions, there are plans to expand neonatal screening from 5 to 36 nosologies, and the transfer of these diseases to the jurisdiction of the federal budget is underway. At the same time, a number of patients do not receive modern and effective therapy due to the lack of correct diagnosis as well as the high cost. Lack of timely therapy can lead to disability, reducing the population of working age.
• Practical steps: measures to improve the efficiency of the system for providing support to patients with orphan diseases.
• "A diagnostic odyssey." Why can it take years to diagnose a patient with a rare disease?