" class="no-js "lang="en-US"> Life-Saving NHS Test Helping To Diagnose Thousands With Cancer
Tuesday, October 08, 2024

Life-Saving NHS Test Helping To Diagnose Thousands With Cancer-Causing Syndrome

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 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. Genomics involves looking at all the information contained in our DNA, the blueprint for the building blocks of our bodies, including the genes that determine how we grow and develop. Changes to the genes in our DNA can lead to conditions developing such as Lynch syndrome.

One person who believes being diagnosed with Lynch syndrome saved their life is 29-year-old Charlie Grinstead.

Charlie was diagnosed with bowel cancer in March 2020, shortly after his wedding and starting a new job. The cancer did not respond to surgery and chemotherapy and continued to grow, with the likelihood of survival looking increasingly slim.But thanks to the NHS using a genomic testing like this, doctors were able to confirm a diagnosis of Lynch syndrome in July 2020, which opened up new treatment options for Charlie. It meant he was able to begin receiving a new, and more effective, immunotherapy at University College London Hospitals NHS Foundation Trust (UCLH). Two years of treatment later, and he is in complete remission. His doctors have asked he stop treatment and have quarterly scans – the first was this year and was still all clear.

Charlie said: “It feels crazy, it never really felt real when I got a cancer diagnosis in March 2020 and feels weird to end it now – it has been an absolute whirlwind over these past two to three years. It was an emotional rollercoaster of having surgery and then the worsening side effects and decreasing effectiveness of chemotherapy, but then having genomic testing, being diagnosed with Lynch syndrome and receiving the immunotherapy changed everything. The NHS staff who cared and continue to care for me have been incredible and inspiring, I almost struggle to think of the words to express gratitude to them. They saved my life as simple as that, I wouldn’t be here without them. I would really encourage people who get cancer at a young age not to hesitate in asking key questions like ‘why?’. Time is so precious and so don’t worry about asking questions about your health and how you are feeling, it could save your life.”

As a result of his diagnosis, Charlie’s family have also been tested for the genetic condition, with his mother – who herself had cervical cancer in her 30s – also being shown to have Lynch Syndrome. Doctors were able to catch her breast cancer early and after successful treatment she is now doing well.

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.”

Dr Kevin Monahan, Consultant Gastroenterologist and Lynch syndrome specialist at St Mark’s, The National Bowel Hospital, said: “The NHS is making experiences like Charlie’s possible by harnessing the potential of genomic medicine.  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”

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. 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.”

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