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

罕见病影响约7%的人口（www.raredisease.org.uk/what-is-a-rare-disease/）。对于这些疾病，很难汇集用于研究目的的数据，因为与其他常见疾病不同，相关数据是高度专业化的，嵌入在医院网络中并且无法访问（图像，x射线，电生理学，遗传诊断）。那么，为了患者护理和研究的目的，我们如何整理来自多个地点和时间的个人特定临床信息？一个标准的策略可能是链接NHS数据脊柱中的数据，然后访问大量数据进行研究。在没有患者明确同意的情况下，这在技术上具有挑战性，在伦理上也很困难。MyEyeSite将探索一种不同的方法——把工作交给病人。我们独特的见解是，在一个特定的疾病群体中，从高度积极的患者和他们的医疗社区开始，用新的、可访问的技术支持他们。在这里，我们申请进行可行性评估和一套应用程序的原型，这将：？促进患者向医院索取与疾病相关的数据的主体访问请求？为医院提供有效响应此类请求的框架；允许患者以一种信息丰富的方式访问他们自己的数据，对视力障碍很有帮助？为研究目的提供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.