Rare Diseases Pilot Project

In Belgium, more than 500,000 people are affected by one of over 6.100 known rare diseases, yet fewer than 2% are found in the national rare disease registry (CRRD).[^rdday2024] The low number of reported cases in the CRRD has several causes:

• Collection and reporting by genetic centers: it was initially foreseen that cases of a rare disease are reported by the 8 accredited genetics centers in Belgium
  • However, ~30% of rare diseases are not of genetic origin
  • Not all patients with a rare genetic disease have had genetic consulting
  • Genetic tests may be performed in a different center compared to the clinical center visited by a patient
• There is no financial support for reporting to CRRD
• The number of mandatory parameters to be reported is large: for several parameters, the required information is difficult to find and may not be available in the patient file; if reported it may be partial and actually not reliable.
• As most of the cases are te be reported retrospectively, the information on “consultation” is actually difficult to complete and might not even be relevant. Removing these items would simplify and facilitate the reporting.
• The reporting form assumes that case reporting is done at the time of a specific genetic visit. However, most of the cases to be reported might be reported retrospectively. In addition, at Saint-Luc, the clinical centers with the IMR (Institut de Maladies Rares) are reporting the cases and not the genetic center.
• Challenges in the systematic identification of rare disease cases over all medical specialties
  • technological support
  • effective data management