Development of the UroMark assay. A non-invasive test for the detection of bladder cancer in urinary sediment cells

对尿血患者(血尿)的膀胱癌进行调查是很重要的，英国每年的医疗费用估计为5539万英镑，将膀胱癌列为需要处理的最昂贵的癌症之一。虽然血尿是膀胱癌的症状，但只有10%的血尿患者会被发现患有癌症。在大多数情况下，非癌症原因，通常没有找到原因。血尿的评估包括沿尿路或水管传递仪器，以查看膀胱壁的衬里。这种被称为膀胱镜检查的评估是不舒服的，感染的风险很低，但很大，需要从全科医生转诊到医院。我们已经开发了一种测试，它使用被称为高度多元化的靶向测序的尖端技术来检测癌症特有的变化，即可以从尿液中收集的细胞的表观遗传学变化。检测的尿样可以在家里提供，然后通过邮政系统送到我们的实验室。这项名为UroMark的测试利用一个名为雨滴BS-Seq的平台来分析一组150种表观遗传变化，这些变化可以准确区分膀胱癌和正常人群。在概念验证研究中，该测试对检测膀胱癌具有很高的敏感性和特异性。采用高度灵敏和特异的检测方法将彻底改变膀胱癌的治疗途径，对膀胱镜检查的要求和患者的健康状况产生深远影响，并降低与调查血尿和监测疾病复发相关的医疗成本。

Investigation for bladder cancer in patients with blood in their urine (haematuria) is important and incurs a cost to UK healthcare estimated at £55.39 million per year ranking bladder as one of the most expensive cancers to manage. Although haematuria is a sign of bladder cancer only 10% of patients with haematuria will be found to have cancer. In the majority of instances a non cancer cause and frequently no cause is found. The assessment of haematuria involves passing an instrument along the urethra, or water pipe, to view the lining of the bladder wall. The assessment known as cystoscopy is uncomfortable, carries a low but significant risk of infection and requires referral from a GP to hospital. We have developed a test which uses cutting edge technology known as highly multiplexed targeted sequencing to detect cancer specific changes known as epigenetic alterations in cells which can be collected from urine. A urine sample for testing can be provided at home and sent to our lab using the postal system. The test, UroMark, utilises a platform known as RainDrop BS-Seq to analyse a panel of 150 epigenetic alterations which accurately discriminate between bladder cancer and normal. In proof of concept studies the test performs with high sensitivity and specificity for the detection of bladder cancer. The incorporation of a highly sensitive and specific assay will revolutionise bladder cancer pathways, have a profound impact on the requirement for cystoscopy and on patient wellbeing and, reduce the healthcare costs associated with investigation of haematuria and surveillance for disease recurrence.