Kazakhstan's experience: a course towards systemic transformation of care for patients with orphan diseases

At the plenary session of the II CIS Orphan Forum,

Magripa Khamitovna Embergenova, Director of the Department of Maternal and Child Health of the Ministry of Health of the Republic of Kazakhstan, spoke.

In her informative report, she presented a comprehensive review of the key areas of Kazakhstan's state policy:

Development of the regulatory framework: a standard of medical and genetic care has been approved, a concept for the development of a genetic service is being developed, protocols for diagnosis and treatment are being created (56 approved to date).

Early diagnostics system: screenings have been introduced (prenatal, neonatal, audiological, psychophysical), the "one-day clinic" model for pregnant women is being implemented - already in 20 regions.

Orphan registry: more than 90,000 patients, including 21,000 children. Active data collection and real-time monitoring are underway: markers, dashboards, routing, all 20 regions of the country are connected.

Drug provision:

• 152 drugs are classified as orphan
• funding increased from 4 to 175 billion tenge (in 2025)
• three sources are used: the republican, local budgets and the "Kazakhstan Halkyna" fund
• the possibility of using unregistered drugs for vital indications is ensured.

Orphan Center in Astana — created in 2024, a republican coordination system is in place, regional teams have been formed, specialists are being trained.

Our strategic goal is to build an accessible, responsive healthcare system focused on the needs of every child and every patient with a rare disease. Only by joining forces can we ensure equal access to life without pain, without fear and without barriers for every child, for every family.

— Magripa Khamitovna emphasized.

Kazakhstan continues to move towards data integration, strengthening the evidence base and interstate partnership within the CIS, BRICS and international structures.