ISCF HDRUK DIH Sprint Exemplar: MyEyeSite: a feasibility study and prototype for a patient-owned repository of rare-disease clinical and genetic data using inherited retinal disease as a paradigm

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Rare diseases affect approximately 7% of the population ( www.raredisease.org.uk/what-is-a-rare-disease/ ). For these, it is harder to pool data for research purposes, as, unlike other common disorders, the pertinent data is highly-specialised, embedded and inaccessible within hospital networks (images, radiographs, electrophysiology, genetic diagnosis). How then do we collate person-specific clinical information from multiple locations and over time for the purposes of patient care and research? A standard strategy might be to link data within the NHS Data Spine, and then access the data en masse for research. This is technically challenging and ethically difficult without explicit patient consent.MyEyeSite will explore a different tack – give the job to the patient. Our unique insight is to start with highly motivated patients and their medical community, within a specific disease group, and support them with new, accessible technology. Here we apply to undertake a feasibility appraisal and prototype of a suite of applicationsthat will:? facilitate subject-access requests from patients to hospitals for disease-appropriate data? provide a framework for hospitals to respond efficiently to such requests,? allow patients to access their own data in an informative way, robust to sight-impairment? provide pooled data on consented patients for research purposes.