All patients with colorectal cancer should be tested for genetic condition, NICE advisesBMJ 2017; 356 doi: https://doi.org/10.1136/bmj.j998 (Published 24 February 2017) Cite this as: BMJ 2017;356:j998
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A clinical consensus on improving the colonoscopic screening and surveillance of people with Lynch syndrome in England
In March 2016 a clinical expert meeting was held (1) at which it was recommended that a quality assured national programme for individuals with Lynch syndrome (LS) should be established to reduce variation in access, quality and frequency of colonoscopic screening.
Addressing this variation and improving services for this group is vital. We know LS is an incurable genetic condition that can increase the lifetime risk of developing bowel cancer to up to 80%. Access to regular colonoscopic screening can reduce the chance of dying from the disease by as much as 72%. However, Bowel Cancer UK research (2) shows many people experience unacceptable waiting times and poor levels of care. That’s why a new approach to screening this high risk group is needed to address these issues and ensure everyone diagnosed with LS receives timely and high quality colonoscopy.
To explore this recommendation further a clinical meeting was held to reach a consensus on the most effective model for providing an improved service.
We agree and recommend that for optimum effectiveness a national model is required to ensure a timely and high quality screening and surveillance service for people with LS. This would necessitate effective call and recall capabilities, and strict standards and key performance indicators (KPIs) to ensure quality and consistency.
We believe that the most efficient and effective method to deliver a national programme is through the Bowel Cancer Screening Programme (BCSP), utilising existing infrastructure provided for screening the asymptomatic population. The BCSP is delivered to a very high standard with robust quality assurance mechanisms for colonoscopy and a good call and recall system.
The consensus reached is supported and endorsed by the Association of Coloproctology of Great Britain and Ireland (ACPGBI), the British Society of Gastroenterology (BSG), and the Cancer Genetics Group (CGG).
The statements below set out why delivering this service through the BCSP would significantly reduce the vast variation in access, quality and frequency of colonoscopic screening:
•The BCSP would ensure an efficient, consistent and streamlined approach to colonoscopic management across the country. This will help to reduce local disparity and improve the experience and outcomes for people with LS, regardless of location.
•The BCSP has robust quality assurance mechanisms in place. This would help to reduce the variation in quality people with LS face, as colonoscopy appointments will be conducted by an accredited colonoscopist and take place within a Joint Advisory Group for Gastrointestinal Endoscopy (JAG) accredited unit.
•There are strict waiting times and KPIs established in the BCSP. Bowel Cancer UK (3) reported that 49% of their LS survey respondents had experienced delays of more than six weeks to their planned colonoscopy appointment. Utilising the BCSP’s robust call and recall systems and strict waiting time targets we can ensure people with LS are placed on par with screening and symptomatic patients and are seen on time.
•A precedent has already been set by the NHS Breast Cancer Screening Programme. The Programme (4) which routinely tests healthy women for risk of cancer also manages the screening of those with a known genetic mutation (BRCA 1 or 2) that increases the risk of breast cancer. LS carriers are a relatively small, known population. By inputting only identified gene carriers into the BCSP we can ensure we do not encounter the same problems, with risk criteria for inclusion, as the NHS Breast Cancer Screening Programme.
The increased risk of cancer demands only the highest standards for this group. To ensure a national programme can be implemented we are calling for the following recommendations to be implemented as a matter of urgency:
•The BCSP agrees to facilitate the screening and surveillance of people with LS. This will help significantly to reduce the vast variation in access, quality and frequency of colonoscopy this high risk group currently face.
•A linked national database of people identified as LS gene carriers should be developed to support the BCSP to facilitate the call and recall of these patients. Both clinicians and patients have come forward in favour of the development of a national registry, including the Mallorca Group. (5)
•Investment must be made available to increase the capacity of endoscopy centres and cellular and molecular pathology laboratories, as well as genetic services. This is to enable units to deliver an efficient and effective high quality screening and surveillance programme.
•A dedicated clinical champion for hereditary CRC must be established in each colorectal multidisciplinary team to oversee service coordination and to ensure patient pathways are instituted. This is essential to ensure referral pathways are adhered to and patients experience a seamless service.
It is essential that a plan is set in motion to provide national screening and surveillance for people with LS, especially as NICE guidance (6) recommending universal testing for molecular features of Lynch syndrome will likely result in more gene carriers being identified.
Utilising the BCSP’s available robust systems and infrastructure we can ensure that, all patients identified, and their families, receive timely and high quality colonoscopic surveillance, regardless of location. It is incomprehensible the robust and organised BCSP is not already available to those at high risk of CRC.
This also provides a unique opportunity for England to become a world leader by setting a precedent, as there is currently no international comparison. The reality is that until there is clear national leadership and a firm commitment from Public Health England to improve the services for people at high risk of developing CRC, people with LS will continue to fall through the gap and lives will needlessly be lost.
1. Urgent improvements needed to diagnose and manage Lynch syndrome, BMJ 2017;356:j1388
2. Improving services for Lynch syndrome: who’s responsible? Bowel Cancer UK (2016) www.bowelcanceruk.org.uk/campaigning/never-too-young/lynch-syndrome/
4. National Breast Cancer Screening Programme, https://www.gov.uk/government/publications/breast-screening-screening-of...
5. ‘Revised guidelines for the clinical management for Lynch syndrome (HNPCC) : recommendations by a group of European experts’ The Mallorca Group, GUT 2013 62 (812-823) https://www.ncbi.nlm.nih.gov/pubmed/23408351
6. Molecular testing strategies for Lynch syndrome in people with colorectal cancer, National Institute for Health and Care Excellence, Diagnostics guidance [DG27], (2017) https://www.nice.org.uk/guidance/dg27
Competing interests: Professor Sir John Burn leads on a Newcastle University patent for a new MSI assay to be developed to allow faster and cheaper identification of MMR deficient cancers, which indirectly increases the diagnosis of 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).
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) http://fg.bmj.com/content/early/2013/09/16/flgastro-2013-100362
3. Improving services for Lynch syndrome: who’s responsible? Bowel Cancer UK (2016) www.bowelcanceruk.org.uk/campaigning/never-too-young/lynch-syndrome/
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