ISCF HDRUK DIH Sprint Exemplar: Cloud-based integration of phenotype and genotype data for rare disease research

每17个人中就有一个人患有罕见疾病。罕见的疾病可能极难诊断，但它们通常有不明的遗传原因。临床影像、病理学和基因组技术的最新进展导致了对疾病--特别是罕见疾病--的理解方面的显著进步。然而，只有将产生的海量数据与NHS产生的数据整合在一起，然后由研究人员在保护个人隐私的安全环境中进行分析，才能充分实现这些技术的力量。我们将在NHS、学术界和行业之间合作，使用现有工具将数据从NHS信托基金传输到与NHS网络接口并与英格兰公共卫生组织共享数据的安全环境中。然后，NHS的信息将与基于云的平台中的研究数据相结合。最初，我们将招募患有罕见疾病的患者加入NIHR生物资源；NIHR生物资源是一个全国性的志愿者资源，他们已经同意从他们的健康记录中检索的信息可以用于医学研究。这将创造一个丰富的研究资源，有可能改变我们对罕见遗传疾病的理解，推动诊断和管理的改进，并为其他疾病的使用提供原则证据。

One in 17 people have a rare disease. Rare diseases can be extremely difficult to diagnose, but they often have an unidentified genetic cause. Recent advances in clinical imaging, pathology, and genomic technologies have led to remarkable progress in understanding disease - particularly rare diseases. However, the power of these technologies cannot be fully realised until the immense volume of data generated can be integrated with NHS data, then analysed by researchers in a secure environment that protects the privacy of individuals.Working across the NHS, academia and industry we will use existing tools to transfer data from NHS Trusts to a secure environment that interfaces with the NHS network and shares data with Public Health England. NHS information will then be combined with research data in a cloud-based platform. Initially, we will involve patients with rare diseases recruited to the NIHR BioResource; a national resource of volunteers who have already provided consent that information retrieved from their health records can be used for medical research. This will create a rich research resource with the potential to transform our understanding of rare genetic disorders, drive improvements in diagnosis and management, and provide proof of principle for use in other diseases.