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，很难被发现，并且经常被误认为是其他疾病。因此，患者在达到诊断方面面临显著的延迟（从症状发作起的中位时间>4年）。晚诊断会影响患者预后（存活率），花费NHS（而患者需要进行许多测试）并降低治疗的有效性。英国数字健康公司Mendelian开发了MendelScan，该技术可以扫描电子健康记录，以检测可能患有罕见疾病但被标准护理遗漏的患者。它是一种1类医疗设备，使用匿名数据来保护患者隐私，同时支持NHS临床医生提供世界领先的护理。孟德尔已经与NHS和生命科学组织合作，检测30种罕见疾病的潜在未确诊患者，并旨在为他们找到治疗，诊断或临床试验的途径。这笔赠款将资助孟德尔对NET的工业研究，目的是扩大MendelScan平台。如果成功，这将使孟德尔的技术产生更大的价值：对于世界各地的医疗保健提供者和支付者（包括NHS）;对于生病但缺乏诊断的患者;以及寻求让患者抢先体验治疗技术的生命科学公司。Mendelian将致力于为NET中的MendelScan提供足够的临床和技术验证，并继续致力于数字健康技术的道德合作开发，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.