“Three generations of my family were devastated by cancer because of Lynch syndrome – my grandma, my mum, auntie and two uncles. I was also diagnosed with bowel cancer.
Because of my family history I should have been tested for Lynch syndrome sooner and my bowel cancer might have been prevented.
The silver lining is that now I know about the condition, I have a better chance of making sure my children don’t have to go through what I went through.” Read Caroline’s story in full
What’s the problem?
Generations of families like Caroline’s are being devastated by cancer because of an inherited, genetic condition called Lynch syndrome that dramatically increases the risk of cancer.
There are an estimated 175,000 people in the UK that share Caroline’s condition – but hardly any of them know they have it because people aren’t being tested. It’s vital they’re identified, so they can be regularly monitored to reduce their chance of dying from bowel cancer.
But our new findings reveal a worrying picture of delayed diagnosis, poor monitoring and unacceptable waiting times. A lack of leadership, locally and nationally, means no one is taking responsibility to fix these problems.
The buck must stop with the UK’s health ministers – call on them to stop cancer devastating families like Caroline’s.
What needs to happen?
We’re calling on UK Health Ministers to urgently step in and take responsibility for improving the identification and management of Lynch syndrome by:
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.
Lynch syndrome is an inherited condition which causes about 1,100 cases of bowel cancer and 1,000 other cancers annually in the UK. It is caused by a fault in the mismatch repair gene (MMR) which usually works to prevent cancer.