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.
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.
Today (Monday 8 August) along with the Royal College of Pathologists we have published findings which show that people under 50 diagnosed with bowel cancer are not being tested for Lynch syndrome – a genetic condition that increases the risk of bowel cancer by 80 per cent.
Lynch syndrome is an inherited condition which puts people at a much higher risk of developing bowel cancer as well as increasing the risk of other cancers including ovarian cancer, stomach cancer and womb cancer.
Lynch syndrome is estimated to cause 1,000 cases of bowel cancer each year, many of them under the age of 50. Yet fewer than five per cent of people with the condition have been identified.
The Royal College of Pathologists clinical guidelines state that a simple set of tests, which can help identify people with Lynch syndrome, should be carried out automatically on all people diagnosed with bowel cancer under the age of 50 at the time of diagnosis.
Performing this type of test can detect people at greater risk of recurrence, informs treatment options and helps identify those with family members who may also have the condition and be at risk of bowel cancer. If you have Lynch syndrome there is a 50 per cent chance that your children, brothers and sisters also have the condition.
By knowing if people have Lynch syndrome, the patient 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.
However, Bowel Cancer UK and the Royal College of Pathologists found that 29 per cent of hospitals across the UK do not test patients under 50 diagnosed with bowel cancer.
Of those that do carry out the test, only just over half (56 per cent) perform the test automatically as stated in the guidelines. In many cases, hospitals are even delaying the test until after treatment for bowel cancer with only one in 10 (11 per cent) testing prior to treatment.
Asha Kaur, Policy Manager at Bowel Cancer UK said: “Since we carried out the last Freedom of Information (FOI) request on this issue in 2015 there has been a 46 per cent increase in the number of hospitals testing those under 50 diagnosed with bowel cancer.
However, the guidelines have now been in place two years and there are still 40 hospitals in England alone not doing the test at all plus a huge variation in approach to testing across the UK.
We understand that a number of hospitals face challenges implementing the guidelines however many have developed innovative solutions and local approaches to overcome these barriers. Testing should be performed at diagnosis and that’s just not happening. We urge hospitals across the UK to work together to carry out this lifesaving test.
Lynch syndrome has a devastating effect on families and we hear every day how generations have been affected by cancer because of this genetic condition. But it doesn’t have to be this way. There is a simple and cost effective test that can detect Lynch syndrome and then place people in surveillance to help stop bowel cancer.”
Andy Sutton, father of Stephen Sutton who died at the age of 19 from bowel cancer and became a household name by raising millions for charity, said: “I know from personal experience how vital it is that every single person under 50 who is diagnosed with bowel cancer is offered testing for Lynch syndrome. I was eventually offered it but only after I had been diagnosed with bowel cancer second time round. So I was pleased to hear that 110 out of 156 hospitals in the UK are now testing for Lynch syndrome, but I’d like to see every hospital doing it.”
Professor Tim Helliwell, Vice-President of The Royal College of Pathologists said: “We are pleased to see that most hospitals have followed the College’s guidelines and routinely make available the tests for Lynch syndrome. While we recognise that there are barriers for some Trusts in being able to routinely offer testing, we would encourage local multi-disciplinary teams and commissioners to work together to see if they can improve take up of this vital test which may affect patients and their families.”
Bowel cancer is the UK’s second biggest cancer killer and the fourth most common cancer. More than 2,400 people under 50 are diagnosed with bowel cancer in the UK every year. While this is only five per cent of people diagnosed with the disease, there has been a 25 per cent increase in the number of under 50s diagnosed in the past 10 years. Nationally, three out of five people diagnosed under the age of 50 will be diagnosed in the later stages of the disease when chances of survival are lower.
Bowel Cancer UK and the Royal College of Pathologists will be submitting the findings of this Freedom of Information request to The National Institute for Health and Care Excellence (NICE) ahead of the publication of their guidance on testing for Lynch syndrome in October.
The charity’s work to to improve the identification and management of people diagnosed with Lynch syndrome is a core part of our flagship Never Too Young campaign.
(The findings are based on a Freedom of Information request which we submitted to 185 hospitals across the UK in May 2016. 156 hospitals (84%) responded.)
– See more at: https://www.bowelcanceruk.org.uk/media-centre/news-and-blog/new-findings-show-variation-of-genetic-testing-in-the-uk-could-lead-to-cancer-devastating-whole-families/#sthash.n4lYp5fw.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.
Since we launched our Never Too Young campaign, we regularly hear from younger people with bowel cancer who find it hard to get information and support that is relevant to them.
As a result of this feedback, we have produced a new booklet called Younger people with bowel cancer: a guide for the under 50s. This aims to fill the gaps in the information that younger people receive when they are diagnosed with bowel cancer. We hope it will also be useful for family and friends.
The booklet gives an introduction to how bowel cancer can affect the body, emotions, relationships and everyday life. It contains information on issues such as fertility, genetic risk, the impact on young children, family and work life, and contains lots of recommendations for other useful sources of information.
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.
Nearly two years ago Bowel Cancer UK launched the Never Too Young campaign to increase early diagnosis and improve treatment and support for people diagnosed with bowel cancer under the age of 50. Central to that work was a survey which helped understand the experiences of younger people with bowel cancer. Some of the campaign successes so far include:
We have launched our ‘Never Too young’ campaign to raise awareness of bowel cancer in patients under the age of 50. Every year 2,100 younger people are diagnosed with bowel cancer in the UK, of which 21 are in their teens. Currently too many are being diagnosed late when treatment is harder and too many lives are needlessly being lost from this treatable disease.
Bowel Cancer UK aims to save lives by raising awareness of bowel cancer, campaigning for best treatment and care and providing practical support and advice.