Medical Care Resources for Patients with Orphan Diseases: a Cross-country Comparison
Objective of the Review: To provide current information about present-day medical care resources for patients with orphan diseases (OD), challenges in the diagnosis of these conditions, and the availability of treatment in various countries, including the Russian Federation. Key Points: Up to 8,000 rare diseases, which affect about 6% to 8% of the general population, have been identified worldwide. The increasing interest in orphan diseases is explained by significant improvements in the early diagnosis of most of these conditions, as well as advances in pathogenesis-based treatments, which have already been developed for more than 400 disorders. The current medical care system focuses primarily on socially significant diseases. Conclusion: The main medical care resources for patients with OD in various countries are specialized centers for OD, electronic diagnostic systems, electronic training systems for specialists, OD registries, diagnostic screening programs, government programs to pay for treatment with orphan drugs, and comprehensive support for rare disease research. Optimal decisions on OD require an analysis of international experience, and combining the efforts of government, industry, scientific communities, and patient organizations in providing patients with medical care consistent with current best international medical practices.