Expansion of the Mendelian Disease Scanning Platform - for the fast, accurate, automated diagnosis of neuroendocrine tumours

英国有40,000人(美国约为200,000人)受到神经内分泌肿瘤(NET)的影响。Net是一种罕见的癌症，很难发现，经常被误认为其他疾病。因此，患者在作出诊断方面面临重大延误(从出现症状起算的中位数为4年)。延迟诊断会影响患者的预后(存活率)，使NHS付出代价(当患者接受许多检查时)，并降低治疗的有效性。英国数字健康公司Mendelian开发了MendelScan，这是一项可以扫描电子健康记录的技术，可以检测出可能患有一种罕见疾病但标准医疗漏掉的患者。它是一种一级医疗设备，使用假名数据保护患者隐私，同时支持NHS临床医生提供世界领先的护理。孟德利安已经与NHS和生命科学组织合作，检测出患有30种罕见疾病的潜在未诊断患者，并旨在为他们找到治疗、诊断或临床试验的途径。这笔赠款将资助门德利安对Nets的工业研究，目的是扩大MendelScan平台。如果成功，这将为孟德利安的技术带来前所未有的更大价值：对于世界各地的医疗保健提供者和付款人(包括NHS)；对于那些生病但缺乏诊断的患者；以及对寻求让患者早日获得治疗技术的生命科学公司。Mendelian将致力于为MendelScan in Nets提供足够的临床和技术验证，并将继续致力于数字健康技术的伦理、合作开发，以造福世界各地的患者。

40,000 people in the UK (c.200,000 in the US) are affected by a neuroendocrine tumour (NET). NETs are rare cancers that are hard to detect, and are often mistaken for other conditions. As a result patients face significant delays in reaching a diagnosis (median \>4 years from symptomatic onset). Late diagnosis affects patient prognosis (survival rate), costs the NHS (while patients go through many tests) and diminishes the effectiveness of treatments. Mendelian, a UK digital health company, has developed MendelScan, a technology that can scan electronic health records to detect patients who likely have a rare disease but have been missed by standard care. It is a Class 1 Medical device that uses pseudonymised data to protect patient privacy, while supporting NHS clinicians to offer world-leading care. Mendelian already works with the NHS and life sciences organisations to detect potentially undiagnosed patients with 30 rare diseases, and aims to find them paths to treatment, diagnosis or clinical trials. This grant will fund Mendelian's industrial research into NETs, with the purpose of expanding the MendelScan platform. If successful, this would lead to an ever greater value of Mendelian's technology: for healthcare providers and payers across the world (including the NHS); for patients who are sick but who lack a diagnosis; and for life sciences companies who seek to get patients early access to therapeutic technologies. Mendelian will aim to generate sufficient clinical and technology validation for MendelScan in NETs, and remains committed to the ethical, collaborative development of digital health technologies, to benefit patients around the world.