Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey
May 2024Timely diagnosis is one of the most serious challenges faced by people living with a rare disease, and this study estimates that in Europe, the average Total Diagnosis Time is close to 5 years. We investigated the duration of the total diagnosis time for people living with a rare disease in Europe, the difficulties associated with their diagnosis odyssey and the main determinants of diagnosis delays for all rare diseases. We conducted a survey of people living with a rare disease and their families using Rare Barometer, the survey initiative of EURORDIS-Rare Diseases Europe. In geographical Europe, we surveyed 6,507 people living with 1,675 rare diseases in 41 countries. We then peformed a descriptive analysis and ordinal logistic regressions to identify the main determinants of diagnosis delays.
Average diagnosis time is 4.7 years. 56% of respondents were diagnosed more than 6 months after a first medical contact. The main determinants of diagnosis delays are symptom onset before 30 years of age, especially during childhood and adolescence, being a woman, living in Northern Europe or Western Europe, the number of healthcare professionals consulted, misdiagnosis, referral to a centre of expertise, unmet needs for psychological support and financial support, having a genetic disease and a family history of a rare disease. These determinants can inform policies and actions to improve access to diagnosis for all people living with a rare disease.