Synthetic Patient Perspective Data for the Curation and Evaluation of Rare Disease Patient-Facing Technology

Patient-facing technology to support rare disease patients seeking diagnosis has received comparatively little focus from the literature, despite the recognition of its importance. We hypothesise that this is due to the challenges presented when designing pre-diagnostic patient-facing technology within this area. A significant obstacle for research in this area is the lack of data which represents the patient’s perspective. Existing data typically does not present the temporal aspects of diagnosis which are crucial to evaluate the diagnosis time of technology and consists of clinical terminology which is not representative of patients. This work aims to bridge this gap by creating open-source data which: (i) utilises patient-friendly terms and (ii) facilitates the sequencing of phenotypes to temporally recreate the informational journey of a rare disease patient. Therefore, this work facilitates evaluations on whether pre-diagnostic technology reduces the time to a rare disease diagnosis, thus providing more meaningful metrics for success.