An expert review under the auspices of the CIS Orphan Consortium was published in the Journal of Health Development.
The Journal of Health Development published an expert review:
"Organization of Care for Patients with Rare Diseases: International Experience and Development Vectors for the Commonwealth of Independent States."
The paper analyzes the experience of countries selected as benchmarks for the best results in their macroregions—states with a high level of socioeconomic development and the most developed healthcare systems.
The following key components of accessible and effective care for patients with rare diseases are identified as practical guidelines for CIS countries:
- National strategies and plans as the basis for a systems approach: an intersectoral model, goal-setting, KPIs and monitoring of results, transparent distribution of responsibility and resources.
- Drug supply and access to innovative therapies: managed entry agreements, including outcome-based agreements (pay-for-performance), and the use of real-world data (RWD) to support decisions.
- Orphan (specialized) centers and centers of excellence, uniting clinical networks: concentrated expertise, unified approaches to patient management, streamlined routing, monitoring, and evaluation of treatment outcomes. Telemedicine is considered an integrated element of the work of centers and clinical networks to expand access to expert care, especially in the regions.
- Screening expansion programs and diagnostic development: emphasis on early detection (including neonatal/prenatal screening) and strengthening the diagnostic infrastructure, including molecular genetic diagnostics, to reduce the "diagnostic odyssey."
- Digital infrastructure and registriesStandardized data collection, epidemiological assessment, needs forecasting, outcome monitoring, and data-driven management decision-making.
- Information and analytical portals on rare diseases (after the registry framework is built): diagnostic algorithms, laboratory lists, navigation through centers and specialists, information on medical and social support (rehabilitation, education, employment, etc.).
- Interdisciplinary Diagnostic consultations. Organizational standard for complex cases: participation of specialists from various fields, communication with competence centers and clinical networks, ensuring continuity of decisions.
- Human Resources Policy. Training of specialized personnel and a special emphasis on training primary care specialists (alertness, referral criteria, early routing to the expert network).
- International Cooperation. Participation in international initiatives and cross-border projects, joint collection and analysis of RWD, comparability of approaches and the gradual formation of patient-centric care systems.
- The Role of Patient Organizations and Quality of Life. Participation in policy formation, prioritization of areas affecting quality of life (employment, education, social integration).
This publication provides a methodological framework for the systematic development of care for patients with rare diseases in the CIS countries, drawing on international experience and adapting it to the regional context.
Read the full text of the publication (https://drive.google.com/file/d/1yXRKuZLlpHTkHsJG75td85w0XtNYg8WJ/view?usp=sharing)
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