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

罕见疾病影响约7%的人口（www.raredisease.org.uk/what-is-a-rare-disease/）。对于这些疾病，更难为研究目的汇集数据，因为与其他常见疾病不同，相关数据是高度专业化的，嵌入式的，无法在医院网络中访问（图像，放射照片，电生理学，遗传诊断）。那么，我们如何整理来自多个地点和时间的个人特定临床信息，以用于患者护理和研究？一个标准的策略可能是在NHS数据脊柱内链接数据，然后访问数据库进行研究。如果没有患者的明确同意，这在技术上和道德上都是具有挑战性的。MyEyeSite将探索一种不同的策略--把工作交给患者。我们的独特见解是从积极性高的患者及其医学界开始，在特定的疾病组中，并通过新的、可获得的技术为他们提供支持。在这里，我们申请进行可行性评估和原型的一套应用程序，将：？促进患者向医院提出的获取疾病相关数据的受试者访问请求？为医院提供一个框架，以有效地回应这些要求，？允许患者以信息丰富的方式访问他们自己的数据，对视力障碍具有鲁棒性？为研究目的提供知情同意患者的汇总数据。

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.