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.

• Read our latest report outlining the new findings
• Take action and sign our petition
• Help us to fund research into bowel cancer in younger people 
• Find out more about our Never Too Young campaign which aims to improve the diagnosis, treatment and care of bowel cancer patients under 50 
• Download or order our guide 'Younger people with bowel cancer: a guide for the under 50s'