NHS England roll out routine Lynch syndrome testing for bowel cancer patients

NHS England's national programme is successfully rolling out a genetic test for Lynch syndrome, an inherited condition that increases the risk of certain cancers, to those diagnosed with bowel cancer – the UK's second biggest cancer killer. And we're delighted as we've been campaigning for more consistent testing for this condition for many years.

It's estimated that one in 400 people in England have Lynch syndrome, but just 5% are aware they're living with the condition due to a lack of testing.

The national programme ensures all people diagnosed with bowel and endometrial cancer are offered genomic testing, with a diagnosis for Lynch syndrome not only helping to guide more personalised cancer treatment but enabling their families and relatives to be offered testing too.

Relatives who receive a diagnosis of Lynch syndrome can be referred to genetic services to discuss regular testing options to help catch any cancers as early as possible, as well as to consider preventive options such as taking aspirin or undergoing risk-reducing surgery.

Those with Lynch syndrome who are diagnosed with bowel cancer tend to have tumours that are more responsive to immunotherapies such as pembrolizumab, with the genetic testing enabling them to receive the best treatment for their cancer and giving them the best chance of survival.

While the syndrome does not directly cause cancer, the genetic changes can lead to more abnormal cells developing, which then multiply and increase the risk of developing cancers, such as bowel, prostate and endometrial, among others.

Around 3% bowel cancers are caused by Lynch syndrome each year in England – and it's thought the syndrome increases the lifetime risk of developing bowel cancer by around 80%.

It's also linked to the risk of people developing multiple cancers during their lifetime and often at a younger age than would be typically expected.

Dr Lisa Wilde, Director of Research and External Affairs at Bowel Cancer UK, said: "It's a huge step in the right direction that more people are being tested for Lynch syndrome, and something that we've been campaigning on for many years. This important announcement means that those who haven't got bowel cancer but positively test for Lynch syndrome can be offered regular check-ups to reduce their risk of the disease in the future, and those who are already diagnosed with bowel cancer are offered effective treatment to save more lives from the disease."

Julia Whitaker was diagnosed with Lynch syndrome four years ago, and in 2022 was diagnosed with bowel cancer. She says: "If I didn't know that I had Lynch syndrome I wouldn't have been so vigilant in recognising changes in my bowel habits and pursued this with my GP. After removing a flat polyp and surgery, I don’t need any further treatment. Knowing that I have regular colonoscopies every two years to reduce my risk of bowel cancer is very reassuring."

Dr Kevin Monahan, Consultant Gastroenterologist and Lynch syndrome specialist at St Mark's, The National Bowel Hospital, said: "This project, focused on the common hereditary disease Lynch syndrome, is a fantastic example of NHS teamwork, with frontline genomic testing by NHS Genomic Laboratory Hubs working with local cancer teams and pathology services. This benefits people with a diagnosis of cancer by improving access to more effective and precise treatments, and for their families who might otherwise be at risk of cancer."

What have we done so far to campaign for bowel cancer patients to be tested for Lynch syndrome?

• Pledge to test. Wales led the way in committing to testing for Lynch syndrome so in June 2019, we took our #TimetoTest petition to governments in England, Scotland and Northern Ireland calling for better identification and management of people with Lynch syndrome
• Freedom of Information (FOI) request. In January 2018 we carried out an FOI request to find out if hospitals across the UK were testing all bowel cancer patients for features of Lynch syndrome at the time of diagnosis. We found only 17% of hospitals in the UK were testing all bowel cancer patients in line with clinical guidance. Read our full report here
• Raising the issue locally. Thousands of campaigners used our interactive map to find out if their local hospital was testing in line with guidance and took action by asking their political representatives to raise this issue with local health bodies
• Clinical consensus meeting. We brought together 10 leading experts in the field of bowel cancer and genetics to reach an agreement on how the management of people with Lynch syndrome could be improved in England. The group agreed that the national Bowel Cancer Screening Programme (BCSP) should extend their service to those who have Lynch syndrome so they can also receive the same high quality screening service as the eligible asymptomatic population. Read our clinical consensus here