The Rare Barometer Survey from EURORDIS

The Rare Barometer Survey from EURORDIS reveals lengthy diagnostic delays for rare disease patients that corroborate with Retina International’s genetic testing patient experience survey findings

EURORDIS (Rare Diseases Europe), recently released the findings of the Rare Barometer Survey that included responses from over 10,000 people from 42 countries, representing 1,675 rare diseases. The findings from this survey are in line with our (RI’s) Genetic testing landscape survey patient experience study results. The key finding from the rare barometer survey was that the average rare disease patient waits half a decade for a diagnosis and 25% of rare disease patients received 8 or more consultations with a healthcare professional before obtaining a genetic diagnosis. In our study, over 57% of the participants had to wait for more than 3 years for a diagnosis, 40% had to visit more than 5 physicians and 27% had to visit more than 5 clinics before obtaining a genetic diagnosis. Both these studies highlight diagnosis odyssey for people living with rare diseases and an urgent need for a best practice model on access to diagnostic services for rare disease patients.

To learn more about the rare barometer survey findings, please visit the following links:

Major survey reveals lengthy diagnostic delays for rare disease patients  – EURORDIS

Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey | European Journal of Human Genetics (

To learn more about Retina International’s Genetic Testing Landscape Patient experience survey findings please follow the link below:

Genetic Testing Experiences of People Living with Inherited Retinal Degenerations: Results of a Global Survey | Ophthalmic Research | Karger Publishers



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