Intended for healthcare professionals

Rapid response to:


All patients with colorectal cancer should be tested for genetic condition, NICE advises

BMJ 2017; 356 doi: (Published 24 February 2017) Cite this as: BMJ 2017;356:j998

Rapid Response:

Urgent improvements needed to diagnose and manage people with Lynch syndrome

The new NICE guidelines recommend universal testing for Lynch syndrome in all individuals newly diagnosed with colorectal cancer (CRC). Lynch syndrome is an inherited condition which causes around 1,100 cases of CRC annually in the UK, as well as over 1,000 cancers at others sites. Establishing a diagnosis of Lynch syndrome is relevant to the management of cancer patients both in terms of surgery and personalised oncology.

Unfortunately Lynch syndrome is currently an under-recognised, under-diagnosed and under-managed condition, and therefore potential opportunities to reduce cancer mortality are missed. For example, of the 130-175,000 people and their families estimated to have Lynch syndrome, a genetic diagnosis is only made in 5-10% of individuals who carry these gene faults. The NICE guideline will go a long way to addressing the problem with recognising the condition in patients who have been diagnosed with CRC. The NICE Diagnostic Assessment Report states: “Life expectancy for individuals with Lynch syndrome is improved by 1.2 years for probands and 2.1 years for relatives. Over 300 colorectal cancers are expected to be prevented over the lifetime of each annual cohort.”

We believe that there are, however, a number of urgent improvements that need to be made in other aspects of Lynch syndrome patient care which, in the UK, currently lags behind established international standards:

• Current practice in diagnostic testing for Lynch syndrome is variable and ad hoc. We know from a freedom of information (FOI) request carried out by Bowel Cancer UK that many hospitals are not adhering to the current Royal College of Pathologists dataset (1) for the histopathological reporting of CRC, which recommends reflex molecular testing (at the time of diagnosis) for the abnormalities seen in Lynch syndrome on all patients diagnosed under 50. Thus effective implementation of this NICE guideline requires acceptance that testing for Lynch syndrome is the responsibility of all CRC multidisciplinary teams. Commissioners should ensure that funding is in place and all hospitals should ensure that clinical and laboratory teams are fully engaged with the task of delivering this integrated service and that implementation is regularly audited.

• Known LS gene mutation carriers are inadequately managed. Awareness of conditions such as LS is inadequate, and this leads to an inconsistent approach to the management of individuals with genetic conditions linked to an increased risk of CRC. Patients are not being seen quickly enough, many do not have personalised management strategies and there is a failure to provide adequate follow up. A national survey of hereditary bowel cancer services in the UK (2) found that many clinicians were not aware of British Society of Gastroenterology (BSG) guidelines on the surveillance of those at increased risk; more than 20% of clinicians did not think there was an adequate surveillance service for higher risk patients and 64% of clinicians believed that someone else should be undertaking screening. This inconsistency in managing individuals at increased risk of CRC undermines efforts to reduce cancer mortality.

• Lynch syndrome patients often fail to receive consistent management. Carriers of Lynch syndrome require coordinated, timely and high quality care to reduce their cancer risk. However a Lynch syndrome patient experience report published last year from Bowel Cancer UK reported 49% of respondents had experienced delays to their planned colonoscopy appointment, and 78% of these reported waiting more than 6 weeks beyond their surveillance colonoscopy date (3).

Our Recommendations:

In March 2016 Bowel Cancer UK organised a clinical consensus meeting with 35 leading clinicians, researchers in the field, and patient representatives, with the aim of developing solutions to problems patients at high risk of CRC encounter, as articulated in this letter. The meeting was held at the Royal College of Surgeons, London, and included representatives from the BSG, Association of Coloproctology of the United Kingdom and Ireland (ACPGBI), the Bowel Disease Research Foundation (BDRF), National Cancer Research Institute (NCRI) and the National Screening Committee (NSC).

We are calling for the following recommendations to be implemented, which we believe, if adopted, could reduce the significant variation in how people with Lynch syndrome are managed in the UK:

1. A national registry of people identified as having Lynch syndrome should be developed, with consent obtained by a clinician at the point of diagnosis. Clinical pathways linked to the registry would increase our knowledge and understanding of Lynch syndrome, including clarifying how many people are affected by the genetic condition and the regional differences in treatment and care needed to improve outcome.

2. A quality assured surveillance programme for individuals with Lynch syndrome should be established to reduce variation in access, quality and frequency of colonoscopic screening. Currently responsibility for the management of surveillance screening of high-risk groups falls to local providers. This has led to local inequalities and a ‘postcode lottery’. The development of national standards and key performance indicators that local services could be monitored against and held accountable to could ensure quality. Additional investment to increase the capacity of genetic counselling, endoscopy centres and cellular and molecular pathology laboratories is also required to best enable units to deliver an efficient and effective high quality surveillance service. One option that might be explored for delivering such a surveillance service is through the national Bowel Cancer Screening Programmes, which are run and delivered to a very high standard, have in place robust quality assurance mechanisms for colonoscopy and a good call and recall system for patients.

3. A dedicated ‘Clinical Champion’ for hereditary CRC in each multi-disciplinary team to oversee service delivery and ensure pathways for patients are instituted. This is essential to ensure that responsibility is taken at a local level to reduce variations in patient pathways from diagnosis through treatment and long-term follow-up.

In conclusion, a multi-facetted and multi-model strategy is required to improve outcomes for individuals at high-risk of CRC. This requires the clinical workforce to be the focus for improvements in patient care. Thus clinicians, providers and commissioners need to work together to ensure implementation of the NICE guidance and that, following diagnosis, patients receive the highest standards of care.


2. A national survey of hereditary colorectal cancer services in the UK – Monahan, K (2013)
3. Improving services for Lynch syndrome: who’s responsible? Bowel Cancer UK (2016)

Competing interests: Mr Simon Bach is a consultant for Ethicon Inc Cincinatti. Professor Sir John Burn and his team have a patent pending on a new high throughput MSI assay

24 February 2017
Kevin J Monahan
Consultant Gastroenterologist and Honorary Senior Clinical lecturer
Deborah Alsina MBE, Chief Executive, Bowel Cancer UK; Mr Simon Bach, Consultant Colorectal Surgeon, Queen Elizabeth Hospital, Birmingham; Dr James Buchanan, Health Economist, University of Oxford; Professor Sir John Burn, Professor of Clinical Genetics, Newcastle University; Professor Sue Clark, Consultant Colorectal Surgeon, St Mark’s Hospital; Mr Peter Dawson, President, Association of Coloproctology for Great Britain and Ireland; Dr Bianca De Souza, Clinical Genetics Registrar, North West Thames Regional Genetics Service; Miss Farhat V N Din, Senior Lecturer & Colorectal Surgeon, Western General Hospital, Edinburgh; Dr Sunil Dolwani, Clinical Senior Lecturer, Cardiff University; Vice President, Welsh Association of Gastroenterology & Endoscopy; Professor Malcolm G Dunlop, Colon Cancer Genetics Group and Academic Coloproctology, Head of Colon Cancer Genetics, Institute of Genetics & Molecular Medicine; Dr James East, Consultant Gastroenterologist and Honorary Senior Clinical Lecturer, Oxford University Hospitals; Professor D Gareth Evans, Professor of Medical Genetics and Cancer Epidemiology, University of Manchester; Miss Nicola Fearnhead, Consultant Colorectal Surgeon, Cambridge University Hospitals NHS Foundation Trust; Chair of Research & Committee, Association of Coloproctology of Great Britain & Ireland; Dr Ian M Frayling, Consultant in Genetic Pathology, University Hospital of Wales; Dr Rob Glynne-Jones, Consultant Clinical Oncologist, Mount Vernon Cancer Centre; Professor James Hill, Professor of Colorectal surgery, Central Manchester University Hospital; Professor Richard Houlston, The Institute of Cancer Research, London; Professor Mark Hull, Consultant Gastroenterologist, University of Leeds and Leeds Teaching Hospitals NHS Trust; Dr Fiona Lalloo, Consultant Clinical Geneticist, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust; Dr Andrew Latchford, Consultant Gastroenterologist, St Mark’s Hospital and Honorary Senior Clinical Lecturer, Imperial College London; Dr Suzy Lishman, President, The Royal College of Pathologists; Professor Phil Quirke, Head of Pathology and tumour biology, University of Leeds; Professor Colin Rees Vice President (Chair of Endoscopy) British Society of Gastroenterology; Professor Matt Rutter, Consultant Gastroenterologist, University Hospital of North Tees; Professor Peter Sasieni, Professor of Biostatistics and Cancer Epidemiology, Queen Mary University of London; Miss Asha Senapati, Consultant Colorectal Surgeon, Chairman, Bowel Disease Research Foundation; Mr Doug Speake, Colorectal Surgeon, Western General Hospital, Edinburgh; Professor Huw Thomas, Professor of Gastrointestinal Genetics, St Mark's Hospital, Imperial College London; Professor Ian Tomlinson, Professor of Genetics, University of Oxford
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