Reflex Recommendations

It’s estimated that Lynch syndrome causes 1,000 cases of bowel cancer each year, many of which occur in patients under the age of 50 – but fewer than 5 percent of those with the condition have been identified. Why? At least in part, it’s because these unusually young bowel cancer patients aren’t being tested for the genetic disorder.

The test itself is simple – immunohistochemistry can reveal the presence of a defect in a mismatch repair gene. But recent findings (1) published by the Royal College of Pathologists (RCPath) and Bowel Cancer UK indicate that nearly three in 10 hospitals don’t test young bowel cancer patients for Lynch syndrome – and of those that do, only about one in 10 perform the test prior to administering treatment. With current RCPath guidelines (2) in place for two years, why hasn’t testing become automatic? “The main obstacles are financial, resource and capacity barriers,” the researchers explained. “Other factors could be a lack of awareness of the requirement to test or the absence of a specialist gastrointestinal pathologist in some smaller units.” But previous studies have shown that molecular testing for Lynch syndrome is cost-effective (3), allowing patients to be placed on surveillance and their cancers diagnosed and treated in their earliest stages.

“Some hospitals in the UK have developed local approaches to overcoming the obstacles,” say spokespeople from RCPath and Bowel Cancer UK. “For example, Central Manchester Foundation Trust has developed a regional, centralized service – an approach that might alleviate pressure on smaller trusts to develop in-house testing.” They also recommend that England and Wales consider following Scotland and Northern Ireland’s example by taking a national approach to ensuring that all hospitals test patients under the age of 50. “It’s important to carry this out as a reflex test at diagnosis because it can help detect people at greater risk of recurrence, inform treatment options and identify family members who may also have a high risk of bowel cancer. Furthermore, Lynch syndrome patients and their families can be offered regular colonoscopic surveillance, which can reduce mortality from bowel cancer by up to 72 percent.”

RCPath and Bowel Cancer UK are working together to raise awareness of Lynch syndrome testing and to encourage all hospitals to carry out automatic molecular testing in bowel cancer patients under 50 at diagnosis. The UK’s National Institute for Health and Care Excellence will publish new draft recommendations imminently, with final guidance expected in February. “It’s important that the guidelines stipulate whom to test, when to test, and which test to use, as this will help reduce the current variation in practice. We’re also optimistic that the guidance will encourage more widespread adoption of reflex testing, and we hope to see a further increase in the number of patients for whom testing is offered.”

The organizations’ recommendations for pathologists? “To help encourage Lynch syndrome testing, increase awareness, and ensure that individual hospital trusts are implementing guidance, pathologists and other healthcare professionals can raise it as an issue at the multidisciplinary team level.” RCPath and Bowel Cancer UK also encourage each hospital to identify a clinician with a special interest in genetic testing to oversee service delivery and ensure pathways for patients are instituted, and to carry out regular audits to verify that that Lynch syndrome tumor testing is taking place at the time of diagnosis.