Patients With Bowel Cancer 'Not Being Tested for Lynch Syndrome'

Liam Davenport

August 10, 2016

In the United Kingdom (UK), patients younger than age 50 years who are diagnosed with bowel cancer are not undergoing routine screening for a syndrome that increases the risk for cancer recurrence, despite the availability of simple and cost-effective tests, a nationwide survey reveals.

A Freedom of Information (FOI) request sent to UK hospitals revealed that almost one third of institutions do not routinely test younger patients with bowel cancer for Lynch syndrome, with the majority conducting the test after treatment has started.

Lynch syndrome is an inherited condition that increases the risk for bowel and other cancers. As well as increasing the risk for bowel cancer recurrence, there is also a 50% risk of family members also having the syndrome.

The study, conducted in collaboration with the Royal College of Pathologists, was published online August 8  by Bowel Cancer UK. Clinical guidelines from the Royal College state that testing for Lynch syndrome should be carried out automatically among all people diagnosed with bowel cancer under age 50 at the time of diagnosis.

Asha Kaur, MA, policy manager at Bowel Cancer UK, commented in a release: "Lynch syndrome has a devastating effect on families and we hear every day how generations have been affected by cancer because of this genetic condition. But it doesn't have to be this way. There is a simple and cost effective test that can detect Lynch syndrome and then place people in surveillance to help stop bowel cancer."

She said that since their previous FOI request in 2015, there has been a 46% increase in the number of hospitals testing patients diagnosed with bowel cancer under age 50 years.

She pointed out, however, that although the Royal College guidelines were published 2 years ago, 40 hospitals in England alone are not performing the test at all, and there are huge variations across the UK.

She said, "We understand that a number of hospitals face challenges implementing the guidelines; however, many have developed innovative solutions and local approaches to overcome these barriers.… We urge hospitals across the UK to work together to carry out this lifesaving test."

Tim Helliwell, MD, PhD, honorary professor and consultant histopathologist at the Institute of Translational Medicine, University of Liverpool, and vice-president of the Royal College of Pathologists, welcomed the increase in the number of hospitals making the test routine available.

He nevertheless continued: "While we recognise that there are barriers for some Trusts in being able to routinely offer testing, we would encourage local multi-disciplinary teams and commissioners to work together to see if they can improve take up of this vital test which may affect patients and their families."

Study Details

To determine whether patients younger than age 50 years diagnosed with bowel cancer routinely undergo molecular screening for Lynch syndrome, the researchers submitted an FOI request in June 2016 to each hospital trust in England, health board in Scotland and Wales, and health and social care trust in Northern Ireland.

The hospitals were also asked whether any testing is performed before or after treatment, whether it is carried out automatically (a reflex test) or on referral, and which molecular tests are used.

Furthermore, the request asked whether the results of reflex tests are communicated to patients, and, if reflex tests are not conducted, whether there are any plans to introduce them. All organizations were required to respond within 20 working days.

Of 185 hospitals sent the FOI request, 156 (84%) responded, while 14 primarily specialist hospitals deemed the request inapplicable. Among the responders, 71% of hospitals stated that they conduct molecular screening tests for Lynch syndrome in patients with bowel cancer younger than age 50 years.

Testing for Lynch syndrome was carried out as a reflex test in 56% of hospitals, while 38% perform testing only in response to a referral. Furthermore, just 11% of hospitals routinely conducted testing at diagnosis and before bowel cancer treatment. The results indicated that 70% of testing takes place after treatment, while 19% chose the timing of the test on the basis of the clinical context.

Forty-one percent of hospitals reported that they used a combination of molecular tests for Lynch syndrome, with the most common combination being immunohistochemistry and microsatellite instability testing. The most commonly used single test was immunohistochemistry.

The result of reflex testing for Lynch syndrome was communicated to the patient in 71% of hospitals. In many institutions, the decision to communicate the result is left to the discretion of the clinician.

The two primary reasons for not introducing testing were financial and practical concerns. Ten hospitals said that they had no plans to test for Lynch syndrome in the near future.

While recognizing the "financial, resource and capacity barriers" to implementing the guidelines, the authors say that some hospitals have developed "localised approaches."

They call for all hospitals to ensure that testing occurs automatically at diagnosis and that testing be audited regularly, alongside the setting up of a central registry of all people identified as having Lynch syndrome.

"This would increase our knowledge and understanding of Lynch syndrome, including knowing how many people are affected by the genetic condition and whether there are any regional differences in treatment, care and outcomes," they say.

However, they note that the cost-effectiveness of molecular testing for Lynch syndrome in all patients with bowel cancer is being assessed by the UK health watchdog the National Institute for Health and Care Excellence, and they believe that further research is required "to determine the optimum pathway and combination of tests to use for identifying Lynch syndrome in people diagnosed with bowel cancer."

The authors have disclosed no relevant financial relationships.

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