Beating bowel cancer together

Lynch syndrome awareness day

On Lynch syndrome awareness day Asha Kaur, our Head of Policy and Campaigns, explains what Lynch syndrome is, why testing bowel cancer patients for the condition is so important, what patients have been telling us about their experience of being managed for Lynch syndrome and why we’re calling on the UK Health Ministers to urgently step in and take responsibility for improving the diagnosis and care of people with the condition.

How does Lynch syndrome cause bowel cancer?

Today, it’s estimated that 175,000 people have Lynch syndrome in the UK.  The condition is caused by a defect in mismatch repair genes, which usually work to repair damage to DNA. This defect in DNA repair means that people who have Lynch syndrome are much more likely to develop a range of cancers, including:

  • 50–80% bowel cancer
  • 30–60% endometrial cancer
  • 10–20% stomach cancer
  • 10–12% ovarian cancer
  • 5–20% urological cancer

We know that around 1,100 cases of bowel cancer each year are caused by Lynch syndrome, many of them under the age of 50. Yet fewer than five per cent of people with the condition have been identified.

Identifying people with Lynch syndrome

Lynch syndrome is usually suspected in the following circumstances:

  1. A person is diagnosed with a Lynch syndrome related cancer at a young age
  2. There is a strong family history of Lynch syndrome-related cancers

But in February 2017, the National Institute of Health and Care Excellence recommended that everyone who is newly diagnosed with bowel cancer should be tested for Lynch syndrome in England. This is good news as this genetic condition increases a person’s risk of a bowel cancer diagnosis by up to 80% in some cases.  We now need Scotland, Wales and Northern Ireland to follow suit. This is especially important as we know only less than 5% of people with Lynch, out of a possible 175,000 people in the UK.

Patients’ experience

Last year, we asked people with Lynch syndrome to share their experiences across the care pathway from being initially tested and then diagnosed, to their access to regular colonoscopy and about the information and support they received.

Our survey results show that whilst some people with Lynch syndrome have received exceptional care there are still too many experiencing delays right across the pathway. In particular we found:

  • 30% had been waiting four months to over a year from having a blood sample taken for genetic testing to being informed of their diagnosis.
  • 11% waited more than six months to see a genetic counsellor before having their genetic test; and 28% were not offered a follow-up appointment once their diagnosis had been confirmed.
  • 87% would consent to being part of a national registry of people diagnosed with Lynch syndrome.
  • 49% had experienced a delay to their planned colonoscopy with 78% waiting more than six weeks beyond their planned appointment date.
  • Over 70% had not been provided with a written personalised care plan, which sets out their treatment options.
  • 43% had not been given enough useful and relevant information on Lynch syndrome.

Next steps

To address these issues, we have three top recommendations for health bodies 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.

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.

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.

Take action

We’re calling on UK Health Ministers to urgently step in and take responsibility for improving the identification and management of Lynch syndrome, join the campaign 

To find out more about Lynch syndrome, watch our helpful videos

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