Rare diseases

Activities in the field of clinical pathology

As part of Action 1 of the Belgian Plan for Rare Diseases, the Belgian National Institute for Health and Disability Insurance (INAMI-RIZIV) has mandated Sciensano to perform the: 

1. follow-up and financing of the National Reference Centres (NRC) recognized for carrying out some specific analyses of clinical pathology in the context of rare diseases 
2. follow-up of the analyses of clinical pathology performed in the context of rare diseases and reimbursed via the article 24 of the nomenclature
3. follow-up and reimbursement of the analyses of clinical pathology prescribed in the context of rare diseases and outsourced to foreign laboratories because of a lack of availability in Belgium. 

These activities are performed thanks to a specific budget from the INAMI-RIZIV. 

Activities in clinical pathology

Activities in the field of human genetics

As part of Action 2 of the Belgian Plan for Rare Diseases, Sciensano’s service Quality of laboratories has been mandated by the INAMI-RIZIV to:

1. proceed with the selection of external quality assessments for which the participation of the Belgian centres of human genetics can be reimbursed
2. coordinate this reimbursement.

Activities in human genetics

General information about the management of rare diseases in Belgium 

Main goals and strategies of the Belgian Plan for Rare Diseases

In December 2013, Belgium adopted a National Plan for Rare Diseases. This plan consists of 20 actions that aim to improve the management of rare diseases by combining different approaches:

• the improvement of access to diagnostics and information for patients
• the optimisation of healthcare by (i) strengthening the quality management systems of the medical laboratories and other medical departments, (ii) sharing and concentrating expertise (e.g. development, recognition and financing of reference/expertise centres; participation to national networks and to the European Reference Networks, establishment of multidisciplinary consultations; improvement of the training and education of the healthcare professionals), and (iii) promoting research
• the improvement of the generation and management of knowledge and information about rare diseases through the development of different initiatives (e.g. registries for different types of rare diseases, partnerships with patients organisations, participation to the update of the Orphanet platform, etc.)
• the governance and sustainability of the plan (e.g. through the development of legal frameworks for the activities covered by the scope of the plan).

Rare Diseases organisation Belgium – RaDiOrg 

RaDiOrg is the Belgian national alliance for patients with rare diseases and counts more than 80 organisations for specific rare diseases, as well as hundreds of individual members with a disease for which there is no association.

Fund Rare Diseases and Orphan Drugs

The Fund Rare diseases and Orphan Drugs acts as a consultation platform for all stakeholders involved in the care of people affected by rare diseases, and aims to promote the development and implementation of the Belgian Plan for Rare Diseases.

Specialised, reference and rehabilitation centres

Several Belgian specialised, reference and rehabilitation centres have an agreement with the INAMI-RIZIV for the management of certain types of rare diseases (e.g. rare inherited metabolic disorders, cystic fibrosis, hemophilia, pediatric renal diseases, neuromuscular diseases, refractory epilepsy, etc.).

Chronic disease status

Through the “chronic disease status”, the patient will automatically benefit from advantages, such as the third-party payment system or a reduction in the ceiling of his personal costs. The status is automatically granted in some cases, or on the basis of a medical certificate to be submitted to the health insurance fund of the patient. In the context of rare diseases, the patient must provide his health insurance fund with a medical certificate in which his medical specialist indicates which disease the patient is suffering from. In Europe, rare or orphan diseases are defined as diseases that affect a limited number of people (1 person in 2,000). They are listed on the Orphanet portal.

Useful information about the management of rare diseases at the international level 

Actions at the European level 

The European Union (EU) wants to improve patient access to diagnosis, information and care by pooling scarce resources spread across the EU, and by enabling patients and professionals to share expertise and information.

This occurs through different strategies:

• promoting the development of national rare diseases plans and strategies (e.g. the Belgian Plan for rare diseases mentioned above)
• setting up and supporting the European Reference Networks  
• supporting the definition, codification and inventory of rare diseases (e.g. through the Orphanet portal mentioned below)
• supporting the designation and authorisation of orphan medicinal products
• building and broadening the knowledge base also through research
• empowering patient organisations. 

Within this context, the European Commission is focused on:

• supporting Member States’ policies
• developing EU-level cooperation, coordination and regulation
• improving the recognition and visibility of rare diseases.

European Reference Networks

European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe. They aim to facilitate discussion on complex and rare diseases and conditions that require highly specialised treatment.

The ERNs collaborate to review patients’ diagnosis and treatment through ‘virtual’ advisory panels of medical specialists across different disciplines, using a dedicated IT platform. They are also active in the areas of research, setting up registries, developing clinical guidelines, and sharing knowledge and expertise among health professionals and patient organisations.

The first 24 ERNs were launched in 2017, involving more than 900 highly-specialised healthcare units from over 300 hospitals in 26 Member States. As of January 2022, more than 600 new highly specialised hospital units joined the system, bringing the total number of ERN members to almost 1500.

Orphanet  

Orphanet, the portal for rare diseases and orphan drugs aims to provide high-quality information (directories) about: 

• the classification and definition of rare diseases using the rare disease nomenclature known as ORPHAcode
• orphan drugs
• patient organisations
• professionals and institutions
• expert centres
• medical laboratories providing diagnostic tests
• ongoing research projects, clinical trials, registries and biobanks 
• thematic reports: Orphanet report series.