Diagnostic wandering & impasse
Wandering and diagnostic impasse is a priority action of the National Plan for Rare Diseases 3 (PNMR3).
Diagnostic wandering is defined as the period between the appearance of the first symptoms and the date when a precise diagnosis is made.
Diagnostic impasse, on the other hand, results from failure to define the precise cause of the disease after all available investigations have been carried out.
The aim of PNMR 3 is to ensure that all people suffering from rare diseases receive a precise diagnosis 1 year after their first specialist medical consultation, and can benefit from available treatments and therapies.
It runs in parallel with the France Genomic Medicine Plan 2025 which aims to develop innovative molecular diagnostic techniques for all patients suffering from rare diseases. High-throughput sequencing techniques are a real answer to the diagnostic impasse.
REDUCING DEADLOCK WITH THE BAMARA APPLICATION :
To reduce the impasse, it needs to be quantified and analyzed at national level. To achieve this, data on rare disease patients must be entered, and all patients with a diagnostic impasse must be correctly identified using the BaMaRa tool.
OPTIMIZING DATA ENTRY IN RARE DISEASE REFERENCE CENTERS :
Here are a few tools to help centers identify and enter BaMaRa data: