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UK National Health Service Rolls out Lynch Syndrome Genetic Testing

NEW YORK – The UK National Health Service said last week that it would offer genetic testing for Lynch syndrome to all patients diagnosed with bowel and endometrial cancer. The new service will not only help guide patient treatment but also identify relatives who might be at higher risk of developing certain cancers, the NHS said.

According to the NHS, about 1 in 400 people in England have Lynch syndrome, which is the most common cause of hereditary colon cancer, though just 5 percent know they have the condition. Those with the syndrome who are diagnosed with bowel cancer are more likely to have tumors that respond better to certain immunotherapies, such as Merck's Keytruda (pembrolizumab). Having Lynch syndrome also predisposes one to developing other forms of cancer, such as ovarian and prostate cancer, the agency said.

The service is being offered by NHS England through the NHS Genomic Medicine Service. The test relies on blood samples drawn from patients that are then sequenced in one of the regional genomic laboratory hubs. Details about which genes the test will include were not provided.

Sue Hill, CSO for NHS England and the senior responsible officer for NHS Genomics, said in a statement that the test was made possible by the Genomic Medicine Service as well as input from cancer and pathology teams in the UK that will help 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."

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