An Objective Approach to Identify Priority Rare Diseases for the Development of Solutions Reducing the Diagnostic Delay Based on French Data

EN BREF ...

"A timely diagnosis is a critical step to ensure a proper access to expert clinical management for patients. However, diagnosing rare diseases (RD) is a major challenge, as they are not only numerous but also extremely diverse in their expression and cause. This generates a long lag time between first symptoms and diagnosis, unanimously thought to be unacceptably long in many cases, and amenable to improvement. Digital technologies offer new opportunities for improving diagnosis and care in a sector with urgent needs. However, developing and testing digital solutions would only be possible for a limited number of rare diseases (RD). The approach presented here aims at proposing an objective way of defining a subset of “priority” RD to focus on for the development and test of new solutions to reduce the time to diagnosis. An approach which is relevant not only when developing and testing new digital solutions but also organizational solutions in the field of RDs." En bref issu de l'étude.