Finding the missing 95%: the English national lynch syndrome transformation project

Background and Aim

NICE guidelines recommend universal testing of newly diagnosed colorectal and endometrial cancer for Lynch syndrome (LS), however there is strong evidence of variation in delivery of these guidelines by clinical services. In England, through 7 regional Genomics Medicine Service Alliances (GMSA), a transformation project aims to establish robust pathways to improve guideline compliance (https://www.norththamesglh.nhs.uk/national-gmsa-transformation-project-lynch-syndrome/).

Method

A national oversight group was formed in May 2021, with membership drawn from 21 sub-regional Cancer Alliances (CA) and 7 GMSA, charities and other stakeholders. Each CA was tasked with identifying and supporting a responsible ‘Lynch syndrome champion’ within each local cancer team, and we performed a baseline survey to identify barriers to the testing pathway. Workforce training focused on overcoming barriers to testing, identification of eligible patients and mainstreamed constitutional gene testing. Training is delivered via online modules (https://rmpartners.nhs.uk/lynch-syndrome-early-diagnosis-pathway-colorectal-cancer/), workshops, and face-to-face peer-support and co-consultation. Data analysis is performed in conjunction with the National Disease Registration Service (NDRS), and includes clinicopathological data for all cancer patients diagnosed across England, including somatic and constitutional testing outcomes. Results Baseline data from NDRS and from the survey demonstrates that although cancer teams self-reported that 71% offer universal testing for LS, in 2019 only 41% of colorectal cancer patients received any form of index tumour ‘mismatch repair ‘(MMR) testing, data which is available on an open access dashboard ‘cancerstats2’. By late 2022 this figure has increased to colorectal and endometrial tumour mismatch repair testing on the Lynch testing pathway from 43% to 91% nationally for CRC (and from 19% to 89% for endometrial cancer), equally across all geographies in England. Lynch champions have been identified in 195 local cancer teams, and LS nurses appointed in each GMSA to support workforce development, along with regional expert networks. 66 new mainstreaming services have been developed within cancer teams, offering genetic testing locally without referral to clinical genetics services. Subgroups have been established in primary care, nursing, pathology, training, and to pilot testing in other Lynch-related tumour types. Each GMSA has identified LS patients diagnosed via their service, used to ascertain 6750 people with LS for a Nationally coordinated screening programme from 2023, and the development of a National LS Registry. Conclusions This ongoing transformational project is supported by high levels of engagement across stakeholders in England. Despite barriers, significant quality improvement has been implemented, facilitating systematic delivery of universal testing for LS nationally, with reduction in variation in care.