Millions of people worldwide suffer from a rare disease. Many among them without a definitive diagnosis. The object of this study was to identify, evaluate and rate the most appropriate and promising technological tools to help patients effectively navigate their rare disease journey and reduce their exposure to diagnostic wandering.
For the analysis of available tools, products were separated into four technology categories: artificial intelligence, assisted anamnesis (symptom checkers), awareness/patient self-screening, direct identification of patients via screening. Tools were then ranked according to two criteria: impact on patients and operability and subsequently narrowed down further for more in-depth analysis. In two separate advisory board meetings, the most promising tools were then evaluated by healthcare professionals and patient representatives, respectively.
Across four categories and 107 different tools and means for the purposes of reducing diagnostic wandering in rare disease patients, instruments such as Symptoma, Isabel or FindZebra emerged as the favored solution on both advisory board meeting groups. Symptoma was selected to be further evaluated in a comprehensive pilot study with cardiologists and general practitioners in a real-world setting.