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Outside the Lab Oncology, Genetics and epigenetics, Screening and monitoring, Precision medicine, Profession, Omics

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.

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About the Author

Michael Schubert

While obtaining degrees in biology from the University of Alberta and biochemistry from Penn State College of Medicine, I worked as a freelance science and medical writer. I was able to hone my skills in research, presentation and scientific writing by assembling grants and journal articles, speaking at international conferences, and consulting on topics ranging from medical education to comic book science. As much as I’ve enjoyed designing new bacteria and plausible superheroes, though, I’m more pleased than ever to be at Texere, using my writing and editing skills to create great content for a professional audience.

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