The NHS has launched a new testing programme to diagnose thousands of people with a genetic condition that increases the chance of developing cancer. Lynch syndrome is an inherited condition that increases the risk of certain cancers, including bowel, ovarian and pancreatic, which can be identified with a genomic test.
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 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 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 chief executive, Amanda Pritchard, said: “This cutting-edge genetic test is helping to identify thousands of people who are living with Lynch syndrome – meaning we can work with them to reduce their risk of cancer, and provide more personalised and effective treatment if they do need it. Throughout its 75-year history, the NHS has been a world-leader in embracing science and innovation to transform patient care. Our increasing use of genetic testing and genomic medicine is another example of this, as the NHS continues to make the latest, most innovative tests and treatments available for patients across the country.”
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.
Professor Dame Sue Hill, Chief Scientific Officer for England and the Senior Responsible Officer for NHS Genomics, said: “This testing is made possible by the teams in the NHS Genomic Medicine Service across the country working together with cancer and pathology teams to drive up the level of genomic testing to diagnose Lynch syndrome as early as we can to deliver better outcomes for patients and to support the testing of potentially affected family members.”