Comparing the Rare Disease diagnostic journey between Ireland and Europe

data from the Rare Barometer Voices survey – EURORDIS - Sept-Oct 2021

Introduction: Understanding the Rare Disease Diagnostic Journey
The journey of diagnosing a rare disease can be long and complex, involving multiple healthcare professionals, misdiagnoses, and delays. Across Europe, patients with rare diseases often face similar challenges, but regional differences can significantly affect the speed and quality of diagnosis. In this update from RDI, we will explore how the diagnostic journey for rare disease patients in the Republic of Ireland compares to that of the rest of Europe, based on data from the Rare Barometer Survey (EURORDIS, Sept-Oct ’21).
About the Survey
In the Autumn of 2021, EURORDIS, the European Organisation for Rare Diseases, conducted the Rare Barometer Survey. The survey aimed to gather insights into the experiences of patients with rare diseases across Europe, particularly focusing on the diagnostic journey. With contributions from thousands of patients across various European countries, the data provides a clear picture of the challenges faced by individuals living with rare diseases.
Key Findings: Diagnostic Journey in Europe
The Rare Barometer Survey revealed several key insights about the diagnostic journey for rare disease patients:
  1. Average Time to Diagnosis
    • The average time it takes to reach a correct diagnosis varies significantly across Europe. On average, it takes 5.6 years for patients in Europe to receive a diagnosis for their rare condition.
    • Countries like Germany, France, and Spain report relatively quicker diagnosis times, while some countries, especially those with limited healthcare resources, report much longer delays.
  2. Initial Misdiagnosis
    • Across Europe, 53% of patients are initially misdiagnosed, which prolongs the time to correct diagnosis and treatment.
    • Misdiagnosis is common in Ireland, mirroring trends in other European countries, but with a slightly higher occurrence in some regions where healthcare access is more limited.
  3. Access to Specialised Healthcare
    • Specialised care is crucial for rare disease diagnosis and treatment. However, many European countries report difficulties in accessing such specialised services, with 30% of patients stating they had to travel to another region or country to receive proper care.
    • In Ireland, 25% of patients faced challenges in accessing specialist healthcare, indicating that although improvements have been made, barriers still exist.
  4. Patient Awareness and Support
    • Patient advocacy groups and national organisations play a critical role in improving the diagnostic journey. In many countries, including Ireland, these groups are instrumental in raising awareness and providing support.
    • The availability of these services in Ireland is on par with the European average, but in countries with established national rare disease strategies, patients benefit from more coordinated support.
How Ireland Compares to Europe: A Closer Look
While Ireland shares many commonalities with European countries in terms of the rare disease diagnostic journey, there are some important differences:
  1. Diagnosis Time in Ireland vs. Europe
    • The average diagnostic delay in Ireland is 6 years, which is slightly higher than the European average of 5.6 years. This delay is often linked to limited access to rare disease specialists and misdiagnoses in the early stages.
  2. Impact of National Strategies
    • Ireland has made notable progress in recent years by introducing National Rare Disease Plans and focusing on improving diagnostic pathways. However, many European countries with well-established strategies, such as France and the UK, have slightly better outcomes in terms of diagnostic speed and treatment options.
  3. Role of Genetic Testing
    • Genetic testing is an essential tool in the diagnosis of rare diseases, and its use varies across Europe. In Ireland, 60% of patients report receiving genetic testing, which is in line with the European average. However, countries like Belgium and the Netherlands have higher rates of genetic testing, which may contribute to faster diagnosis.
  4. Cross-Border Healthcare Access
    • Ireland has a strong healthcare system, but cross-border healthcare remains a challenge. Ireland participates in the Cross-border Healthcare Directive, which allows Irish patients to access healthcare services in other EU countries. However, this is not always well-integrated into the patient journey, which leads to delays in diagnosis and treatment for some individuals.

 

 

Conclusion: The Path Forward for Ireland and Europe
While Ireland has made considerable progress in supporting patients with rare diseases, there is still room for improvement. With a slightly longer diagnostic journey compared to the European average, there are several opportunities to accelerate diagnosis and improve access to specialised care.
Key Recommendations for Ireland:
  • Improving Awareness and Education: Raising awareness among healthcare professionals about rare diseases can help reduce initial misdiagnosis and improve the speed of diagnosis.
  • Enhancing Genetic Testing Access: Increased availability of genetic testing for rare diseases could help reduce diagnostic delays and enable quicker, more accurate treatment plans.
  • Expanding Cross-Border Healthcare Options: Ensuring seamless access to specialised care across Europe would support Irish patients who struggle to find the appropriate treatment domestically.
In Europe, many countries have begun to implement national plans and cross-border healthcare initiatives that Ireland could adopt or improve upon to further enhance the rare disease diagnostic journey for all its citizens.