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Life-saving NHS test helping to diagnose thousands with cancer-causing syndrome

By April 14, 2023No Comments

A life-saving NHS testing programme is helping to diagnose thousands of people with a genetic condition that increases the chance of developing cancer.

The health service has begun rolling out a genetic test for Lynch syndrome, an inherited condition that increases the risk of certain cancers, including bowel, ovarian and pancreatic.

It is estimated that 1 in 400 people in England have Lynch syndrome (equivalent to around 175,000 people), but just 5% are aware they are living with the condition.

The national programme ensures all people diagnosed with bowel and endometrial 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 1,100 bowel cancers are caused by Lynch syndrome each year in England – and it is thought the syndrome increases the lifetime risk of developing bowel cancer by around 80%.

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

NHS England, through the NHS Genomic Medicine Service, has launched a national transformation project to ensure more patients with Lynch syndrome are identified and benefit from regular check-ups, earlier interventions and more targeted treatment, such as combinations of immunotherapy, chemotherapy and surgeries.

People with Lynch syndrome are more likely to develop multiple cancers and be diagnosed at a younger age. For example, bowel cancer is most common in those aged over 50 but in someone younger, it may be a sign of Lynch syndrome.

The NHS is now able to identify the condition through a simple blood test, which then goes through a regional genomic laboratory hub, is sequenced, and then sent back to the referring clinician.

A positive diagnosis also means doctors can improve the chances of staying cancer free with interventions like aspirin, which can reduce the risk of bowel cancer developing by up to 50 per cent, regular colonoscopies to check for changes to healthy cells and offering women preventative gynaecological surgery.

Health Minister Helen Whately said: “This test will help thousands of people understand better their risk of bowel cancer, in turn supporting prevention and treatment.

“The sooner we detect cancer the better chance we have of beating it – and that’s why we’re working with genomic scientists on personalised care and testing for those most at risk of cancer.

“These cutting-edge tests support the ambition in the NHS Long Term Plan to diagnose 75% of cancers at an early stage by 2028.”

Natalie Creaney