Steps such as National Registries, the unified ORPHAcodes list, and Centers of Expertise are shaping a comprehensive framework for rare diseases, emphasizes Deputy Minister of Health Mr. Marios Themistocleous.

The way a health system addresses rare diseases is a fundamental indicator of its credibility. This is a field where scientific complexity meets social responsibility, and innovation tests the limits of public funding. Diagnosis is often delayed, care requires collaboration among multiple specialties, and treatment management is frequently long-term. These conditions create real public policy challenges:

• how to ensure equitable access,
• how to allocate resources rationally, and
• how to guarantee that medical innovation reaches patients without jeopardizing system sustainability.

In response to these challenges, the strategic choice of the Ministry of Health is to move from fragmented handling to a coherent public policy framework based on data, institutions, and transparency.

National Patient Registries

A central element of this approach is the National Registries for Patients with Rare Diseases and Conditions. For the first time, the country is establishing an organized and digital record of patients, integrated into the electronic prescribing system.

Three registries are already operating:

• rare hematological diseases
• rare eye and vision disorders
• rare liver diseases

Additional registries are being developed to cover neurological, kidney, dermatological, rheumatological, and endocrine diseases.

These registries are not merely administrative processes. They are policy-making tools because they enable:

• confirmation of diagnoses using unified criteria,
• monitoring disease progression,
• evaluation of treatment effectiveness, and
• evidence-based allocation of resources.

In other words, they transform information into public policy.

Unified Rare Disease Coding

In the same direction, Greece issued a National Rare Disease Catalogue based on ORPHAcodes in 2024. The catalogue includes about 7,000 diseases, with Greek and English names, unique Orphacode identifiers, and their mapping to ICD-10 codes.

Having a unified, internationally compatible coding system enhances the visibility of rare diseases in health information systems and research, while enabling better policy and service planning. Proper documentation is not a technical detail — it is a prerequisite for serious health policy.

Centers of Expertise

Equally crucial is the contribution of Centers of Expertise for Rare and Complex Diseases, which act as highly specialized reference points, concentrating knowledge, experience, and multidisciplinary collaboration, while also linking to European networks.

This creates a care system that does not depend on circumstances or geography but is based on structured access and scientific evidence.

Evaluation of High-Cost Medicines

At the same time, mechanisms for evaluating high-cost medicines are being strengthened using scientific and economic criteria to ensure a balance between patient access to innovation and the sustainability of the public health system.

Health technology assessment is a key tool for decisions based on clinical effectiveness and social value.

Next Steps: National Action Plan

The next decisive step is completing the National Action Plan for Rare Diseases, which will bring prevention, diagnosis, treatment, and patient support into a single framework.

It will include:

• training for health professionals
• expansion of genetic testing
• access to clinical trials
• participation of patient organizations in policy design

A Policy of Values

Policy for rare diseases reflects a choice of values. A state decides to prove in practice that equality in healthcare is not a slogan but an obligation — one that is fulfilled daily through planning, institutions, and accountability.