Utilizing Routine Care Data of Rare Diseases: Challenges, Chances and Call for Collaboration.

Area of Science:

• Medical Informatics
• Epidemiology
• Public Health

Background:

• Rare diseases (RDs) affect approximately 300 million people globally, representing a significant health burden.
• Current coding systems, such as the International Classification of Diseases, 10th Revision (ICD-10), lack specificity for RDs, leading to underestimation of their prevalence and hindering epidemiological research.
• The Orphanet Rare Disease Ontology (ORDO) offers precise terminology and identification numbers for RDs, gaining traction in Germany and Europe.

Purpose of the Study:

• To identify challenges and opportunities in enhancing routine healthcare data for secondary use in rare disease research.
• To improve the visibility and epidemiological understanding of rare diseases.
• To contribute to the development of the European Health Data Space for rare diseases.

Main Methods:

• Reviewing current data coding practices for rare diseases.
• Analyzing the utility of the Orphanet Rare Disease Ontology (ORDO) in routine care data.
• Identifying barriers and facilitators for secondary data use in rare disease epidemiology.

Main Results:

• Standard coding systems like ICD-10 are insufficient for accurate rare disease coding and analysis.
• ORDO provides a more precise framework for rare disease identification and coding.
• Enhancing routine care data requires addressing challenges in data quality, standardization, and accessibility.

Conclusions:

• Implementing precise coding systems like ORDO is crucial for accurate rare disease surveillance and research.
• Improving secondary use of healthcare data is essential for advancing rare disease epidemiology.
• These efforts support the vision of a European Health Data Space for rare diseases, facilitating better patient outcomes and research.