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NHS genomic testing helping to diagnose thousands with cancer-causing syndrome

Lynch syndrome is an inherited condition that increases the risk of certain cancers, including bowel, ovarian and pancreatic.

The NHS has rolled out a genetic testing programme to help diagnose thousands with a genetic condition which can increase the chances of developing cancer.

Lynch syndrome is an inherited condition that increases the risk of certain cancers, including bowel, ovarian and pancreatic.

This programme ensures people diagnosed with bowel and endometrial are offered genomic testing.

NHS England reported that 1 in 400 people in England have Lynch syndrome but just 5% are aware they have the condition.

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Having a diagnosis for Lynch syndrome can provide more personalised cancer treatment for the patient as well as allowing their relatives to be tested too.

Professor Dame Sue Hill, chief scientific officer for England, 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.’

The NHS Genomic Medicine Service ensure that patients with Lynch syndrome have access to regular check ups, earlier interventions and more targeted treatments such as a combination of immunotherapy, chemotherapy and surgeries.

Charlie Grinstead, 29, was diagnosed with bowel cancer in March 2020, shortly after his wedding day.

The cancer did not respond to surgery and chemotherapy and continued to grow, with the likelihood of survival decreasing.

However, after genomic testing Grinstead was diagnosed with Lynch syndrome thus enabling him to have access to more effective immunotherapy.

Two years later, he is now in complete remission and is no longer receiving treatment.

‘The NHS is making experiences like Charlie’s possible by harnessing the potential of genomic medicine,’ said Dr Kevin Monhan, consultant gastroenterologist and Lynch syndrome specialist at St Mark’s, The National Bowel Hospital.