The English National Lynch Syndrome Transformation Project

BSG CSSC Service Development Prize 2023 highly commended submission by Dr Kevin Monahan

Background and aims

Lynch syndrome (LS) affects approximately 1 in 400 individuals and predisposes to multiple cancers including colorectal, endometrial, gastric, small bowel, cholangiocarinoma and other tumours. Although a common condition, it is estimated that only 5% of patients with LS are known in the UK. There is consistent evidence of the cost-effectiveness and clinical benefit of a structured diagnostic pathway in patients with LS following a diagnosis of cancer linked to cascade testing in families. NICE DG27 and DG42 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. Barriers to diagnosis and a manifest deficiency in care for those with LS has been described in the literature as a ‘diffusion of responsibility’. The ‘Time to Test’ report published by Bowel Cancer UK in 2018 demonstrated that NICE guideline DG27 was not implemented and recommended that healthcare providers work together to address this underperformance for the benefit of people with LS. Another approach to deliver effective diagnosis is to develop ‘mainstreaming’ models whereby patients are offered constitutional genetic testing by their cancer treating teams locally, rather than relying on referral of eligible patients to tertiary services such as clinical genetics. This has many possible advantages including shorter timescale to diagnosis, effective communication provided through an existing relationship between patients and their clinical teams, and ensuring that eligible patents access testing. This model is associated with high levels of acceptability for patients and clinicians, however relies on the development or new skills by cancer teams.


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. In order to deliver testing each cancer MDT should identify a responsible local lead for the Lynch diagnostic pathway (a ‘Lynch champion’), who may identify specific tasks for others within the MDT. They should allocate specific responsibilities within their team, ensure there are systems in place to identify patents who are eligible for genetic testing, and that these patients are offered testing. In 2020, NICE recommended that each CRC MDT identify a lead within each cancer team, with evidence of local arrangements to ensure delivery. 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, 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.


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. Thus far 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.


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. Whilst there is increased awareness of the cancer risks associated with LS, and other aspects of the condition, by clinicians, there remain significant gains which can be made in diagnosis and subsequent lifelong management of people with LS. Effective diagnosis needs to deliver people with this condition to effective clinical risk mitigation through a range of mechanisms including nationally coordinated and quality-assured colonoscopic surveillance. In this project, we have aimed to develop expertise within cancer teams across England, with clear responsibilities, leadership from within which will ensure that the patients they are managing with cancer will receive appropriate testing and delivery diagnosis. The responsibility for managing cascade testing remains with specialist genomics services. However lifelong care of people diagnosed with this condition depends on awareness of who this population is, as defined through a national registry, and access to regional multidisciplinary expertise. It is our view that the NHS is well equipped to deliver these benefits because of the coordinated standardised approach to health and equity of access, infrastructure which requires reinforcement through support delivered by GMSAs and cancer alliances.

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