From Bowel Cancer UK
We want all hospitals across the UK to test all bowel cancer patients for features of Lynch syndrome, at the point of diagnosis in line with clinical guidelines. It is vital people know when they have Lynch syndrome so they, and their family members, can take life-saving steps to reduce their chance of dying from bowel cancer. The UK’s second biggest cancer killer.
In 2018, we submitted a Freedom of Information (FOI) request to ask all hospitals in the UK if they are testing all bowel cancer patients for Lynch syndrome at the point of diagnosis, and all CCGs in England if they are funding hospitals to carry out this test.
Use our interactive map to find out if your hospital is testing all bowel cancer patients at the time of diagnosis for Lynch syndrome by clicking on the pin in your local area.
Read more here
We, along with other leading clinical experts, are calling for the Bowel Cancer Screening Programme to extend its service to include people with Lynch syndrome. We don’t need to reinvent the wheel, the programme already runs to a very high standard with strict waiting times to test healthy people aged 60+ for early signs of bowel cancer. We can use the mechanisms already in place to make sure people with Lynch syndrome are seen on time with the same high quality care.
It’s incomprehensible that a robust and organised programme is made available for people at average risk but not for those at high risk of bowel cancer.
Ultimately, the buck must stop with the UK’s health ministers – call on them to stop cancer devastating families with Lynch syndrome
Read the letter to the BMJ here
Professor of Clinical Genetics
Bowel Cancer UK, Willcox House, 140-148 Borough High Street, London, SE1 1LB
The charity @LynchSyndromeUK are visiting West Middlesex University Hospital next Thursday to speak to a group of GP trainees
Please let us know if you or your family would like to meet members of the charity including others with Lynch Syndrome in OPD4 at 3pm
Families devastated by cancer as health bodies pass the buck
Our new findings reveal a shocking picture of delayed testing for diagnosis, poor management and unacceptable long waiting times for genetic testing for people diagnosed with Lynch syndrome – a genetic condition similar to the BRCA gene for people with a high risk of breast cancer.
- We carried out a nationwide survey of people with Lynch syndrome.
- An estimated 175,000 people have Lynch syndrome in the UK. Most people (95%) with Lynch syndrome do not know they have it because of a lack of systematic testing. If you have Lynch syndrome there is a 50% chance that your children, brothers and sisters also have the condition.
- People with Lynch syndrome need to be identified, so they can be regularly monitored to reduce their risk of bowel cancer. In some cases the risk of developing bowel cancer from this inherited condition is as much as 80% and it also increases the risk of other cancers including ovarian cancer, stomach cancer and womb cancer.
An estimated 1,100 cases of bowel cancer can be attributed to Lynch syndrome each year – many of them under the age of 50.
- Currently people with Lynch syndrome are managed locally with mixed results across the country. This means those at high risk who require coordinated, timely and high quality care in order to reduce and manage their risk of bowel cancer fail to receive it. There’s a lack of leadership locally and nationally, with no body or organisation taking responsibility to address these issues to improve the identification and management of this serious genetic condition. In the meantime whole families are being devastated by cancer.
- The buck stops with the UK Health Ministers. We’ve started a petition calling on them to step in and take responsibility for identifying and managing people with Lynch syndrome by implementing the charity’s top three recommendations:
- Develop a national registry of people identified as having Lynch syndrome. A registry could increase our understanding of the condition, including knowing how many people are affected & whether there are any regional differences in treatment, care and outcomes. Our survey found that 87% of respondents identified with Lynch syndrome would consent to be part of a genetics registry.
- Establish a national surveillance programme to improve the management of people with the genetic condition. 49% of respondents to our survey experienced delays to their planned colonoscopy appointment date, with 78% waiting more than six weeks.
- Comprehensive UK guidelines should be developed that set out best practice for the clinical management of people with Lynch syndrome.
51-year-old Caroline found out she had Lynch syndrome after she was diagnosed with bowel cancer.
“I was referred to a geneticist after chemotherapy, where I was diagnosed with Lynch syndrome. I had never heard of this, but it highlighted my family history. My whole family has been devastated by cancer. My mum died of ovarian cancer, her mum died of bowel cancer, my mum’s brother died from cancer in the liver, mum’s sister died from ovarian cancer and my mum’s other brother died from lung cancer. I have two children, they’re too young to be tested at the moment but that day will come.
“I waited seven months for my genetic counsellor; I don’t know why it took so long. At the appointment we discussed my family history and she said I most likely had Lynch syndrome. A blood sample was taken to confirm the syndrome but I had to chase and chase for over a year to get the results. I’m now waiting for a letter to invite me on to the aspirin trial and I think I will be chasing that up too. Having bowel cancer is stressful enough and it’s not helpful having to chase and inform healthcare professionals about Lynch syndrome.
“More information needs to be provided to healthcare professionals about Lynch syndrome so it’s not the patient informing them.” Read more about Caroline’s story
Deborah Alsina MBE, Chief Executive at Bowel Cancer UK, says:
“Until there is clear local and national leadership and a firm commitment to improve the services for people at high risk of developing bowel cancer, the estimated 175,000 people who carry this inherited faulty gene will continue to fall through the gaps of health bodies because they are reluctant to take responsibility.
For example in Wales and England the Breast Cancer Screening Programme has set a precedent for a national screening programme managing the surveillance of those with a known genetic mutation such as BRCA1 or 2 that increases the risk of cancer. A similar programme must now be introduced for those with Lynch syndrome. Until then generations of families will be devastated and lives needlessly lost.”
Dr Kevin Monahan, Consultant Gastroenterologist at West Middlesex University Hospital and a member of our medical advisory board, says:
“These latest findings give us an extremely valuable but also worrying insight into the challenges people with Lynch syndrome face. With such a high risk of developing cancer, it’s vital this group is properly identified and managed by the health service in order to save as many lives as possible. We know in many areas of treatment and care too many people are being failed and this has to change.”
To address these issues, we have three top recommendations for a health body to implement:
1. Develop a national registry of people identified as having Lynch syndrome
The UK’s understanding of the number of people with Lynch syndrome is limited – only 6,000 gene carriers are currently known, as testing is not carried out systematically across the country. By collecting anonymised data on gene carriers we can increase our knowledge and understanding of Lynch syndrome, including knowing how many people are affected and whether there are any regional differences in treatment, care and outcomes.
Our survey found that 87% of respondents identified with Lynch syndrome would consent to be part of a genetics registry if adopted in the UK to further research, raise awareness, coordinate consistent care services and to help others in the same situation.
2. Establish a national surveillance programme to improve the management of people with the genetic condition
By knowing if people have Lynch syndrome, the individual and their family can be offered a surveillance programme to receive regular colonoscopy, which can reduce their chance of dying from bowel cancer by 72 per cent. It will also reduce their risk of a recurrence of cancer, and inform treatment options.
Guidelines from the British Society of Gastroenterology (BSG) recommend that people who have Lynch syndrome are placed in a surveillance programme to receive regular colonoscopy every 18 months to two years, depending on their risk. However, 49% told us in our survey they had experienced delays to their planned appointment date and 78% of these reported waiting more than six weeks beyond their planned procedure date.
The inequalities and postcode lottery of care caused by the current localised approach to surveillance of these high risk patients could be addressed by implementing a national surveillance programme, adopting a similar approach to the national bowel cancer screening programme. The national bowel cancer screening programme, aimed at the general popular aged over 60, provides an efficient high quality service with strict waiting time targets meaning patients are seen on time.
3. Develop comprehensive UK guidelines that set out best practice for the clinical management of Lynch syndrome
An inconsistent approach to managing people at higher risk of bowel cancer will undermine efforts to save lives from this treatable disease.
– See more at: https://www.bowelcanceruk.org.uk/media-centre/news-and-blog/families-devastated-by-cancer-as-health-bodies-pass-the-buck/#sthash.7VT0XGwc.dpuf
Bowel Cancer UK is campaigning to improve the identification and management of people with Lynch syndrome.
They’ve put together a 15 minute survey to give people the chance, anonymously, to share their experience of being diagnosed, and managed for Lynch syndrome.
Your experiences will help Bowel Cancer UK to continue to campaign to improve the diagnosis and management of Lynch syndrome.
Please share the survey with your family and friends who also have Lynch syndrome.
- Mismatch repair deficiency predicted response to the anti–PD-1 antibody pembrolizumab among patients with advanced colorectal, endometrial, and several types of gastrointestinal cancers.
- Responses occurred in 62% of patients with mismatch repair–deficient colorectal cancers but none of the patients with mismatch repair–proficient tumors.
- Disease control rates were 92% among patients with mismatch repair–deficient colorectal cancers and 16% in the mismatch repair–proficient group.
- An overall response rate of 60% was observed in patients with other mismatch repair–deficient cancers.
Mismatch repair genes have long been a source of fascination to basic biologists. Normally, these genes serve to fix the small glitches that occur when DNA is copied as cells divide. Most of the original work was done in bacteria, with no expectation of medical relevance. But, as often happens, basic science studies can provide a profoundly important foundation for advances in human health. The relevance of mismatch repair to cancer was dramatically revealed in 1993, when teams led by Bert Vogelstein of Johns Hopkins School of Medicine, Baltimore, and Richard Kolodner, then of Harvard Medical School, Boston, discovered that mutations in human mismatch repair genes play a key role in the development of certain forms of colorectal cancer.
Mismatch repair deficiency is found in 15% to 20% of sporadic (noninherited) colorectal cancers and in nearly all colorectal cancers associated with Lynch syndrome, which constitute up to 5% of all colorectal cancers. Mismatch repair deficiency is also found in other tumor types including stomach, small bowel, endometrial, prostate, and ovarian cancer. Testing for mismatch repair deficiency is widely available and could enable identification of a larger population of patients who might benefit from pembrolizumab and other PD-1 drugs.
That discovery has led to the ability to identify individuals who have inherited misspellings in these mismatch repair genes and are at high risk for colorectal cancer, providing an opportunity to personalize screening by starting colonoscopy at a very early age and, thereby, saving many lives. But now a new consequence of this work has appeared. Vogelstein and his colleagues report that mismatch repair research may help fight cancer in a way that few would have foreseen two decades ago: predicting which cancer patients are most likely to respond to a new class of immunotherapy drugs, called anti-programmed death 1 (PD-1) inhibitors.
In a small, proof-of-principle study recently published in The New England Journal of Medicine and presented at the American Society of Clinical Oncology’s annual meeting, the Johns Hopkins researchers reported that they could predict the benefit of an anti-PD-1 inhibitor called pembrolizumab (Keytruda®) by scanning patients’ tumor samples for defects in mismatch repair. Regardless of their type of cancer, patients whose tumors were mismatch repair deficient were more likely to respond to the immune-boosting, anti-PD-1 drug than those with tumors proficient in mismatch repair. In fact, the worse the tumor cells were at repairing DNA, the better the patients fared on anti-PD-1 therapy!
This may all sound counterintuitive. However, researchers say it supports the hypothesis that immunotherapy may be most effective against tumors with many mutations. (In the new study, the tumor cells deficient in mismatch repair contained more than 20 times as many mutations, on average, than tumor cells proficient in mismatch repair.) The idea is that the greater the number of DNA glitches in a tumor cell, the more abnormal proteins it will produce—and the more abnormal proteins that are generated, the greater the odds that the body’s immune cells will regard the tumor cells as “foreign” and target them for destruction.
To test this hypothesis, Vogelstein, Luis Diaz, Jr., and their colleagues initiated a phase II clinical trial to evaluate pembrolizumab, which is already approved by the Food and Drug Administration for treating certain patients with melanoma, in 32 patients with advanced colorectal cancer. Some of the patients had tumors that were mismatch repair deficient; others had tumors proficient in mismatch repair. The researchers also enrolled nine people with cancers of the pancreas/bile duct, uterus, small bowel, and stomach that tested positive for mismatch repair defects. The patients, all of whom had not responded to at least one previous cancer treatment, were administered the anti-PD-1 drug intravenously every two weeks.
After at least 20 weeks of anti-PD-1 therapy, the researchers found that colorectal tumors shrank in about 40 percent of patients in the mismatch repair deficient group, compared to none in the mismatch repair proficient group. Furthermore, 78 percent of the mismatch repair deficient group was free of tumor progression at 20 weeks, compared to 11 percent of the mismatch repair proficient group.
According to the researchers, the average overall survival time for colorectal patients in the mismatch repair deficient group has not yet been reached because some are still responding well to anti-PD-1 therapy, more than a year after the study started. In contrast, average overall survival among patients in the mismatch proficient group was reported to be only 5 months.
As for the patients with other types of mismatch repair deficient cancer, their tumors shrank at rates similar to those seen in mismatch repair deficient colorectal cancer. However, such patients tended to respond faster to anti-PD-1 therapy than the colorectal cancer patients. And, unlike the colorectal group, a complete remission of cancer was observed in one patient—a woman with uterine cancer. No treatment-related deaths occurred in the study, with the most serious adverse reaction being pneumonitis (inflammation of the lung) in one patient.
The team will continue to follow these patients and enroll more volunteers to see if their findings hold up in a larger study. They also hope to start similar trials for some of the many other types of cancer, such as prostate and ovarian, known to contain mismatch repair deficiencies in a small percentage of tumors. Another area of scientific exploration is whether patients whose tumors contain other types of DNA repair deficiencies, such as those caused by POLD, POLE, and MYH mutations, might also benefit from anti-PD-1 therapy.
This research is just one of many outstanding examples of how decades of research by NIH-supported basic, translational, and clinical scientists continue to move us towards the era of precision medicine. NIH’s National Cancer Institute recently took a major step in that direction by announcing the Molecular Analysis for Therapy Choice, or NCI-MATCH trial. This pioneering clinical study will precisely match patients from as many as 2,400 sites across the country to one of more than 20 targeted drugs or drug combinations based on the particular molecular abnormalities of their individual tumors . With this and many other new efforts envisioned by the Precision Medicine Initiative, it seems as though a future of more precise, individualized approaches to the diagnosis, treatment, and prevention of cancer and many other diseases is now within sight.
Half of NHS authorities in England, Scotland and Wales do not currently test bowel cancer patients under 50 for possible Lynch syndrome.
A Freedom of Information (FOI) request by leading charity Bowel Cancer UK has highlighted a wide variation in tests for Lynch syndrome in bowel cancer patients under 50. Lynch syndrome is an inherited condition which can mean a higher risk of developing bowel cancer. Testing for Lynch syndrome will help identify family members who may have the condition and be at risk of bowel cancer. It can also affect treatment options. Lynch syndrome testing has been shown to be cost effective for the NHS, and is a required reflex test mandated by the Royal College of Pathologists and recommended by the British Society of Gastroenterologists.
Despite this testing is patchy. Just half of the hospital trusts in England that responded to the FOI request said they conduct tests among bowel cancer patients under 50 for Lynch syndrome, 10 of the trusts saying they had no plans to do so.
It’s not just England hospital trusts that are falling short. More than half of health boards in Wales do not screen patients under 50 with bowel cancer. In Scotland fifty per cent of health boards currently do not follow the guidelines for Lynch syndrome testing set in July last year by the Royal College of Pathologists. It’s a brighter picture in Northern Ireland where all health and social care trusts responded to say that they perform the test to identify possible Lynch syndrome patients.
The approach to testing is also widely varied among those hospitals which do screening for bowel cancer patients under 50. Testing is part of the core dataset for pathologists and should therefore be carried out automatically (known as reflex testing) for this group of young patients. However many trusts/health boards do not yet carry out this “reflex testing,” as stipulated in the Royal College of Pathologists’ guidelines. Scotland is in the process of developing a nationwide approach to testing. We believe a nationwide approach would provide the consistency needed to ensure all bowel cancer patients under 50 are systematically tested.
Bowel Cancer UK submitted the FOI request in November 2014 to every NHS trust in England, health board in Scotland and health and social care trust in Northern Ireland to establish the number of trusts/health boards which were implementing the testing for all bowel cancer patients under 50, as mandated by the Royal College of Pathologists. Lynch syndrome is responsible for around one in 12 cases of bowel cancer in people aged under 50.
Dr Suzy Lishman, President of the Royal College of Pathologists, said, “This research is encouraging as it shows that our guidelines may have had some impact already on testing for Lynch syndrome in patients diagnosed under the age of 50. However, there is considerable variation in the approach to testing. Testing is now mandated by the Royal College of Pathologists as part of the core dataset for pathology and is a required reflex test for this group of young patients. We would urge all trusts to perform the screening test for Lynch syndrome in bowel cancer patients under 50 and to adopt a more consistent approach to the testing.”
Deborah Alsina, Chief Executive of Bowel Cancer UK said, “We welcome the fact that some trusts and health bodies have implemented this guidance, but it is concerning that variation still remains. The disparity between hospital trusts and health boards in England, Wales and Scotland is even greater than we anticipated.”
“It’s crucially important that all bowel cancer patients under 50 are offered genetic testing at diagnosis as it could affect both surgical and chemotherapy decision making. Yet currently it is normally done after treatment has ended, if at all. Not only that, but appropriate surveillance needs to be arranged as patients with Lynch syndrome are at greater risk of recurrence. Additionally, as Lynch syndrome is a genetic condition, it can have implications for other family members who may be at risk of developing bowel cancer so family members should also be tested to identify any others with the condition.”
Andy Sutton, the father of teenager Stephen Sutton who sadly died last year from bowel cancer, is all too aware of the need for systematic Lynch syndrome testing. Andy was diagnosed with bowel cancer twice – in 1989 at the age of 31 and 20 years later in 2009. It was only second time round that Andy was tested for Lynch syndrome, which was inherited by his son, Stephen.
Andy said, “If I had been genetically tested after the first diagnosis and given regular surveillance screening, it might have been possible to have prevented bowel cancer developing second time around. That’s why I’m supporting Bowel Cancer UK’s call for everyone under the age of 50 who is diagnosed with bowel cancer to have testing for Lynch syndrome, it had a tragic impact on our family and I want to save others from going through the same experience.”
Dr Kevin Monahan, Consultant Gastroenterologist and General Physician, Family History of Bowel Cancer Clinic, West Middlesex University Hospital says: “Anyone under 50 who is diagnosed with bowel cancer is eligible for testing but it is not always offered. In the first instance, discuss testing for Lynch syndrome with your consultant or your GP”
Bowel Cancer UK is calling for urgent action to be taken:
1. We would urge NHS England and Wales to adopt a similar approach to NHS Scotland and establish a nationwide initiative to ensure a consistent, systematic approach to screening for Lynch syndrome as mandated by the Royal College of Pathologists.
2. All CCGs must commission to reflect the RCPath cancer dataset thus ensuring providers are compliant with this cancer dataset.
3. Accreditation of pathology departments should be linked to compliance with the core minimum dataset which may be used as a metric.