Development of the Mendelian Rare Disease Screening Platform - for the fast, accurate, automated diagnosis of rare disease

罕见疾病的诊断是复杂的，具有挑战性和昂贵的-漏诊和误诊对患者和NHS都有重大的健康和经济后果。我们打算纠正这一点，使诊断变得简单，快速，最重要的是准确-克服与当前诊断过程相关的一些关键技术和临床问题。联系我们 **：基于我们的罕见病数据库原型，该数据库根据5种定义的症状的输入，以78%的准确率提出罕见病诊断，我们希望开发世界上第一个自动化罕见病筛查工具。该工具旨在与GP诊所或医院的病历软件一起使用，并利用SnoMed代码分类器直接集成，该工具能够自动扫描患者的医疗记录，寻找过去和现在的症状，然后将这些症状与我们的8000多种罕见疾病的实时数据库进行交叉引用，标记潜在的未诊断的罕见疾病患者。然后对这些进行排名，以给出权重，使医生能够就治疗的可能性，需要和紧迫性做出明智的决定。许多难以诊断的疾病都有有效的治疗方法，可以大大改善患者的预后，降低医疗系统的成本和负担。重点：** 该项目侧重于四个关键要素的发展;1。通过API和SnoMed代码分类器集成到电子健康系统中。开发患者筛查系统，该系统将插入到当前的孟德尔诊断建议工具3中。与选定的专科医生和临床专家合作，确定每个疾病组的模式、权重和建议，以及这些疾病组背后的卫生经济学。开发个性化警报系统 ** 创新 **：第一个实时患者筛查工具，将标记卫生系统内潜在的未确诊罕见疾病患者。结果 **：英国有超过300万罕见病患者（全球超过3.5亿），这是一个相当大的商业机会，并直接满足英国NHS和全球需求。这样做的好处是巨大的和直接的;* 患者：更快地获得正确的治疗，改善健康影响，并通过早期诊断实现预防性治疗。临床医生：减少诊断时间;减少误诊;减少诊断所需的研究和预约次数。NHS：每年可能为NHS节省26亿英镑的罕见疾病成本（150亿英镑NHS支出X 25%诊断支出x 70%节省）。"

"**VISION:** The diagnosis of rare disease is complex, challenging and costly - with missed and misdiagnosis having a significant health and economic consequences for both patients and the NHS. We intend to redress this and make diagnosis easy, quick and most importantly accurate - overcoming some the key technical and clinical issues associated with the current diagnosis process.**OBJECTIVES**: Building on our prototype rare disease database, which suggests rare disease diagnosis with 78% accuracy based upon the input of of 5 defined symptoms, we want to develop the world's first automated rare disease screening tool.Designed to sit alongside and integrate directly with medical record software at a GP clinic or hospital, utilizing SnoMed code classifiers, the tool is capable of automatically scanning patient's medical record for symptoms, past and present, and then cross referencing these against our live database of 8000+ rare diseases, flagging potential, undiagnosed rare disease patients. These are then ranked in order to give a weighting, enabling a doctor to make an informed decision regarding likelihood, need and urgency of treatment. Many of these hard to diagnose diseases have effective treatments that can drastically improve patient outcomes and reduce costs and burden on medical systems.**FOCUS:** The project focuses on the development of four key elements;1. Integration into electronic health systems through API and with SnoMed code classifiers.2. Development of the patient screening system which will plug onto the current Mendelian diagnosis suggestion tool3. Working with selected specialist physicians and clinical experts to determine the patterns, weighting and recommendations for each disease group as well as the health economics behind these.4. Development of the personalised alert system**INNOVATION**: The first real-time patient screening tool that will flag potential undiagnosed rare disease patients within health systems.**OUTCOME**: There are over 3 million rare disease patients in the UK (350m+ worldwide) making this a sizeable commercial opportunity, as well as directly addressing a defined UK NHS and global need. The benefits of this are sizable and immediate;* Patients: Quicker access to the correct treatment, improving health impacts and enable preventative treatments through earlier diagnosis.* Clinicians: Reduce diagnosis time;, reduce misdiagnosis; reducing research needed for diagnosis and number of appointment.* NHS: Potentially save NHS £2.6bn per year in rare disease cost (£15bn NHS spending X 25% diagnosis spend x 70% saving)."