New findings show variation of genetic testing in the UK could lead to cancer devastating whole families

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 to up to 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.