Monje-Garcia Laura, Bill Timothy, Farthing Lindsay, Hill Nate, Kipps Emma, Brady Angela F, Kemp Zoe, Snape Katie, Myers Alistair, Abulafi Muti, Monahan Kevin
St Mark's Hospital Centre for Familial Intestinal Cancer, Imperial College London, London, UK.
RM Partners West London Cancer Alliance, London, UK.
Colorectal Dis. 2023 Sep;25(9):1844-1851. doi: 10.1111/codi.16707. Epub 2023 Aug 8.
The UK National Institute for Health and Care Excellence guideline DG27 recommends universal testing for Lynch syndrome (LS) in all newly diagnosed colorectal cancer (CRC) patients. However, DG27 guideline implementation varies significantly by geography. This quality improvement project (QIP) was developed to measure variation and deliver an effective diagnostic pathway from diagnosis of CRC to diagnosis of LS within the RM Partners (RMP) West London cancer alliance.
RM Partners includes a population of 4 million people and incorporates nine CRC multidisciplinary teams (MDTs), overseen by a Pathway Group, and three regional genetic services, managing approximately 1500 new CRC cases annually. A responsible LS champion was nominated within each MDT. A regional project manager and nurse practitioner were appointed to support the LS champions, to develop online training packages and patient consultation workshops. MDTs were supported to develop an 'in-house' mainstreaming service to offer genetic testing in their routine oncology clinics. Baseline data were collected through completion of the LS pathway audit of the testing pathway in 30 consecutive CRC patients from each CRC MDT, with measurement of each step of the testing pathway. Areas for improvement in each MDT were identified, delivered by the local champion and supported by the project team.
Overall, QIP measurables improved following the intervention. The Wilcoxon signed rank test revealed significant differences with strong effect sizes on the percentile of CRC cases undergoing mismatch repair (MMR) testing in endoscopic biopsies (p = 0.008), further testing with either methylation or BRAF V600E (p = 0/03) and in effective referral for genetic testing (from 10% to 74%; p = 0.02). During the QIP new mainstreaming services were developed, alongside the implementation of systematic and robust testing pathways. These pathways were tailored to the needs of each CRC team to ensure that patients with a diagnosis of CRC had access to testing for LS. Online training packages were produced which remain freely accessible for CRC teams across the UK.
The LS project was completed by April 2022. We have implemented a systematic approach with workforce transformation to facilitate identification and 'mainstreamed' genetic diagnosis of LS. This work has contributed to the development of a National LS Transformation Project in England which recommends local leadership within cancer teams to ensure delivery of diagnosis of LS and integration of genomics into clinical practice.
英国国家卫生与临床优化研究所（National Institute for Health and Care Excellence）指南DG27建议对所有新诊断的结直肠癌（CRC）患者进行林奇综合征（LS）的普遍检测。然而，DG27指南的实施在不同地区存在显著差异。本质量改进项目（QIP）旨在衡量差异，并在伦敦西部癌症联盟的RM Partners（RMP）内建立一条从CRC诊断到LS诊断的有效诊断途径。
RM Partners覆盖400万人口，包括9个CRC多学科团队（MDT），由一个路径小组监督，以及3个区域遗传服务机构，每年管理约1500例新的CRC病例。每个MDT内都指定了一名负责的LS倡导者。任命了一名区域项目经理和一名执业护士来支持LS倡导者，开发在线培训包和患者咨询研讨会。支持MDT开发一项“内部”主流化服务，以便在其常规肿瘤诊所提供基因检测。通过对每个CRC MDT连续30例CRC患者的检测路径进行LS路径审核，并对检测路径的每一步进行测量，收集基线数据。每个MDT确定改进领域，由当地倡导者实施，并得到项目团队的支持。
总体而言，干预后QIP的可测量指标有所改善。威尔科克森符号秩检验显示，在内镜活检中接受错配修复（MMR）检测的CRC病例百分比（p = 0.008）、使用甲基化或BRAF V600E进行进一步检测（p = 0.03）以及有效转诊进行基因检测（从10%提高到74%；p = 0.02）方面存在显著差异，且效应量较大。在QIP期间，开发了新的主流化服务，同时实施了系统且稳健的检测路径。这些路径根据每个CRC团队的需求进行了定制，以确保诊断为CRC的患者能够接受LS检测。制作了在线培训包，英国各地的CRC团队仍可免费获取。
LS项目于2022年4月完成。我们实施了一种系统方法并进行了人员转变，以促进LS的识别和“主流化”基因诊断。这项工作为英格兰的国家LS转型项目的发展做出了贡献，该项目建议癌症团队发挥地方领导作用，以确保LS诊断的实施以及将基因组学融入临床实践。
