The Zebra Diagnosis Coalition is pleased to share its White Paper, “Barriers to Timely Diagnosis of Rare Diseases, How Healthcare Systems in Europe Shape Time to Rare Disease Diagnosis.”
Our analysis identified seven barriers contributing to delayed diagnosis of rare diseases across European healthcare systems, operating at different stages of the diagnostic pathway and reinforcing one another (as illustrated below):
- B1: Limited capacity to recognize rare diseases in primary care
- B2: fragmented organization of specialized care
- B3: Limited coordination of referral pathways to specialized expertise
- B4: Late or inconsistent use of genetic testing
- B5: Prioritisation of acute and severe conditions
- B6: Limited access to treatments
- B7: Fragmented information systems
If these barriers appear consistently across Europe, yet, their impact, and the costs they generate, vary by country and disease area.
Our next step is to quantify the costs of delayed diagnosis and identify where policy action can have the greatest impact. Stay tuned!