Bowel Cancer UK and clinical experts are urging all hospitals across the UK to implement Lynch syndrome testing at diagnosis for everyone with bowel cancer under the age of 50. Lynch syndrome is an inherited condition which causes over 1,000 cases of bowel cancer in the UK every year, many of them in people under the age of 50. However, fewer than 5% of people with Lynch syndrome in the UK have been diagnosed.
Testing everyone with bowel cancer under the age of 50 at diagnosis for Lynch syndrome will help identify family members who may carry Lynch syndrome and be at risk of bowel cancer. It has been shown to be cost effective for the NHS, and is recommended by the Royal College of Pathologists and British Society of Gastroenterologists. It is also a key recommendation in our Never Too Young campaign.
People with Lynch syndrome should then access regular surveillance screening, which can detect bowel cancer in the early stages and has been shown to reduce mortaility from bowel cancer by 72%.
Despite this, testing and surveillance screening are patchy across the UK. A letter in the Daily Telegraph (13 November 2014) from eight leading clinical experts supports our call for all hospitals to implement Lynch syndrome testing at diagnosis for people with bowel cancer under the age of 50.
The letter and signatories are as follows:
There are more than 1,000 cases of bowel cancer a year that are attributable to Lynch syndrome (LS), many under the age of 50. LS is an inherited condition that predisposes individuals to bowel and other cancers, with a lifetime risk of around 70 per cent. Yet in the UK we have identified fewer than 5 per cent of families with LS. The family of Stephen Sutton, who was diagnosed with bowel cancer and whose father has LS, was one of them. It is a consistently under-recognised, under-diagnosed and inadequately treated condition.
Both the Royal College of Pathologists and the British Society of Gastroenterology recommend testing everyone with bowel cancer under the age of 50 at diagnosis to help us to identify family members who may carry LS and be at risk of bowel cancer. Yet testing is patchy. We urge all hospitals across the UK to implement this guidance.
This testing would mean people at risk could access surveillance programmes for regular colonoscopies, helping detecting bowel cancer early but also preventing it.
Patient groups such as Bowel Cancer UK are in support. A recent NHS study found that LS testing at diagnosis for everyone under 50 with bowel cancer would be cost effective enough to have been approved by NICE. The evidence is overwhelming. We must end this postcode lottery.
Dr Suzy Lishman, President, The Royal College of Pathologists
Professor Malcolm Dunlop MD FRCS FMedSci FRSE, Colon Cancer Genetics Group and Academic Coloproctology, Head of Colon Cancer Genetics, Institute of Genetics & Molecular Medicine
Professor D Gareth Evans MD FRCP, Professor of Clinical Genetics and Cancer Epidemiology and Consultant Geneticist, University of Manchester
Commenting on the letter from clinical experts, Deborah Alsina, CEO of Bowel Cancer UK, said:
“The Royal College of Pathologists recently produced best practice guidelines recommending everyone with bowel cancer under the age of 50 should be tested for Lynch syndrome at diagnosis. Speedy implementation is vital as testing is currently patchy at best and if people are tested at all, it is often after treatment ends. Yet a diagnosis of Lynch syndrome can affect treatment decisions. We are therefore calling for all UK hospitals to implement this guidance swiftly.”
“This will also help to identify the risk to other family members who may also carry Lynch syndrome and who may be at higher risk of developing bowel cancer. Once identified, people at risk, including those diagnosed who have a greater chance of recurring or developing another linked cancer, should have access to surveillance programmes including regular colonoscopies. This will help to ensure bowel cancer is either prevented or detected early.”
Bowel Cancer UK will be writing to all Clinical Commissioning Groups and Health Trusts in the UK asking them if they have implemented systematic Lynch syndrome testing, and we will report back on the responses. In the meantime, please share our infographic on the subject on social media to help raise awareness of the issue.
A new study has just been published in the journal Frontline Gastroenterology. This shows a highly inconsistent approach to the management of patients at elevated risk of hereditary colorectal cancer (CRC) in the United Kingdom (UK).
The British Society of Gastroenterology (BSG) Cancer Group designed a national survey to determine how we might understand and improve the service for these patients.
What is already known on this topic? Genetic factors contribute about 35% of all colorectal cancer (CRC) risk. There is good evidence that the correct management of patients with an elevated hereditary risk is a highly effective method of preventing CRC. This can be achieved by screening according to guidelines and the development of a high quality service with clear patient pathways. However in some studies there is evidence of an inconsistent approach to the management of those patients, with low risk patients being screened too often, and high risk patients not frequently enough. There is also a low referral rate to genetic services for high risk patients.
What this study adds? Responses to this national survey suggest a poor understanding of the current guidelines amongst clinicians and variable clinical pathways for patients. There is also a perception that another unspecified clinician is undertaking this work. This may explain the wide variation in care and low adherence to guidelines in the United Kingdom (UK).
How might it impact on clinical practice in the foreseeable future? We recommend the development of clear structures and the provision of a high quality service to these patients through national audit, development of quality standards and education of physicians and surgeons in the UK. Each hospital should develop a lead clinician for the delivery of these services. Only in this way will this ad hoc approach to the management of hereditary CRC be improved.
Objectives: The British Society of Gastroenterology (BSG) Cancer Group designed a survey to determine how we might understand and improve the service for patients at elevated risk of hereditary colorectal cancer (CRC).
Design and Setting: United Kingdom (UK) gastroenterologists, colorectal surgeons, and oncologists were invited by email to complete a 10 point questionnaire. This was cascaded to 1,793 members of the Royal College of Radiologists (RCR), Association of Cancer Physicians (ACP), the Association of Coloproctology of Great Britain and Ireland (ACPGBI), as well as BSG members.
Results: Three hundred and eighty-two members responded to the survey, an overall response rate of 21.3%. Although 69% of respondents felt there was an adequate service for these higher risk patients, 64% believed that another clinician was undertaking this work. There was no apparent formal patient pathway in 52% of centres, and only 33% of centres maintain a registry of these patients. Tumour block testing for Lynch Syndrome is not usual practice. Many appeared to be unaware of the BSG/ACPGBI UK guidelines for the management of these patients.
Conclusions: There is wide variability in local management and in subsequent clinical pathways for hereditary CRC patients. There is a perception that they are being managed by ‘another’, unspecified clinician. National guidelines are not adhered to. We therefore recommend improved education, well defined pathways and cyclical audit in order to improve care of patients with hereditary CRC risk.
Dedicated Clinics: Referrals on the basis of family history are best coordinated through centres with a specialist interest, such as regional genetics services or medical/surgical gastroenterology centres. Such centralisation enables audit of family history ascertainment, assigned level of risk, collection of outcome data and research.
Screening Procedure: Total colonoscopy is the preferred mode of surveillance for the moderate risk categories defined here, owing to the propensity for proximal colonic lesions and the opportunity for snare polypectomy. Incomplete colonoscopy should initiate an alternative imaging modality on the same day, such as double-contrast barium enema or CT colonography. A repeat colonoscopy soon after an incomplete examination is acceptable, but success must be assured. However, radiation exposure should be minimised and regular radiological surveillance is not recommended.
High moderate risk group inclusion criteria comprise familial aggregations where affected relatives are first-degree relatives of each other (first-degree kinship) with at least one being a first-degree relative of the consultand. If both parents are affected, these count as being within first-degree kinship:
– Three affected relatives any age in a first-degree kinship (eg, a parent and a blood-related aunt/uncle and/or grandparent), at least one of whom is a first-degree relative of the consultand, or two siblings/one parent or two siblings/one offspring combinations, or both parents and one sibling. However, there should be no affected relative <50 years old, as otherwise the family would fulfil high risk criteria.
– Two affected relatives aged <60 years in a first-degree kinship or mean age of two affected relatives <60 years. At least one relative must be a first-degree relative of the consultand and so this category includes a parent and grandparent, >2 siblings, >2 children or child+sibling. The risk is sufficiently increased to merit low-intensity surveillance comprising 5-yearly colonoscopy between age 50 and age 75 years. Polyps should be snared; adenoma surveillance applies thereafter if a benign neoplasm is confirmed.
Low-moderate risk group. Inclusion criteria are:
– One affected first-degree relative under 50 years old or
– Two affected first-degree relatives, aged 60 or older.
In both high-moderate and low-moderate categories, pathology tumour material from an affected relative may be available to test for Lynch syndrome gene involvement.
Excluding such instances, there is a modest excess risk meriting a single colonoscopy at age 55 (if older at presentation then instigate forthwith), in the low–moderate group to identify polyp formers. Polyps should be snared; adenoma surveillance applies thereafter if a benign neoplasm is confirmed. If colonoscopy is clear, reassure and discharge with recommendations relevant to population risk (uptake of faecal occult blood test screening in the UK).
Early-onset colorectal cancer (<50 years). The elevation of risk in relatives of an early-onset case is modest. However, the heightened anxiety and emotive nature of cancer in this age group merit special mention because this frequently initiates requests for surveillance. Such cases are covered by the above risk categorisation, but algorithms can also be used to predict whether the affected relative is a carrier of a mutation in a Lynch syndrome gene. These approaches identify affected individuals where tumour immunohistochemistry and/or microsatellite instability analysis could lead to identification of a DNA mismatch repair gene mutation. Bethesda criteria are not discriminatory within this group because all patients fulfil these criteria due to age alone.
Low Risk Group: People with only one affected relative and who do not fulfil any of the above criteria, and do not fulfil high risk criteria, should be reassured and encouraged to avail themselves of population-based screening measures. The low level residual risk over that of the general population should be explained.
Outcome of screening in Moderate Risk Groups (Dove-Edwin et al BMJ 2005)
Colonoscopic surveillance is effective in preventing colorectal cancer in individuals from families with hereditary non-polyposis colorectal cancer (group 4) and in individuals with a family history of colorectal cancer that does not meet the Amsterdam criteria. However, colonoscopic surveillance in the families at moderate risk seems not indicated until age 45 (or even 50), and this is true even for the relatives of young patients. Furthermore, surveillance intervals of more than five years may be appropriate in individuals with a moderate risk family history (groups 1-3) in whom no advanced pathology is found.
Colonoscopic polypectomy has been shown to decrease the incidence of colorectal cancer in a large cohort study as well as in clinical practice and to decrease both the incidence and mortality of colorectal cancer in individuals with a family history of hereditary non-polyposis colorectal cancer. It is also considered by some to be a safe tool for population screening. Clear guidelines exist for colorectal surveillance in hereditary non-polyposis colorectal cancer families, but guidelines and practices for individuals at moderate risk on the basis of their family history are heterogeneou.
Concerns exist about colonoscopic surveillance in individuals with a moderate risk family history, as some will not be at increased risk. Dunlop et al calculated that if surveillance were offered to individuals aged 30-70 who have two direct relatives affected or one under age 45 then 235 000 individuals would be eligible in the United Kingdom. Even if the age of initiating surveillance is raised, the potential burden on resources is immense. Colonoscopy is associated with a small risk of serious complications, and this may substantially outweigh any benefits in people at low risk.
In this study, only one incident cancer was detected on surveillance in an individual with a moderate risk family history during 9281 person years of follow-up. In families at moderate risk, advanced neoplasia is very rare below the age of 45 and, if not seen initially, it remains uncommon (under age 65) if follow-up colonoscopy is carried out within six years. These findings are important because individuals with a moderate risk family history who are under age 65 with no advanced neoplasia can be considered to be at low risk and extended surveillance intervals may be sufficient. Individuals with a moderate risk family history in whom advanced neoplasia is seen on initial colonoscopy should continue with colonoscopy every three years. The low yield of advanced neoplasia under the age of 45 is true also of those with a first degree relative affected under age 45. Only 4% of 139 individuals in group 1—families with one case of colorectal cancer diagnosed under age 45, and no other cases—screened under age 45 (mean age 33) had an adenoma of any description. Despite the increased risk of colorectal cancer in this group individuals’ absolute risk therefore remains small and the benefit of screening seems minimal below the age of 45.
|Family History of Bowel Cancer
(BSG) and the Association of Coloproctology for Great Britain and Ireland(ACPGBI) Guidelines
|What to consider in Primary Care before referring
|Approach to assessing patients with a family history of bowel cancer – Full historywith reference to the following points
Examination should specifically include
|PRIMARY CARE Low risk groups: Although many of these patients may seek reassurance, according to national guidelines they do not require screening above and beyond the rest of the population (i.e. BCSP).
They may be offered lifestyle modification advice in addition to reassurance. Lifestyle interventions proven to reduce risk of bowel cancer include
|Referral ThresholdModerate risk groups should be referred for assessment for screening from the age of 50 years onwards and not before in the absence of other indications.
High risk groups should be referred at any age. They account for approximately 5% of all bowel cancer.
|Secondary care resource:Refer to Gastroenterologist if moderate or high risk
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