Genetic test for cancer patients could be cost-effective and prevent further cases

Oct. 3, 2014

Researchers at the University of Exeter Medical School were funded by the National Institute for Health Research Health Technology Assessment (NIHR HTA) Program to assess the effectiveness and cost-savings of screening for Lynch Syndrome. Their findings, published in Health Technology Assessment, indicate that screening the 1,700 people under the age of 50 who are newly diagnosed with bowel cancer in England each year would identify two thirds of these whose cancer was caused by Lynch Syndrome. From this group, the findings suggest that 40 further cases of cancer could be avoided in them and their relatives.

Lynch Syndrome is a condition caused by mutations in the genes responsible for proof-reading DNA. It increases the risk of developing cancer, particularly bowel cancer and cancers of the womb and ovaries. It is responsible for around one in 12 cases of bowel cancer in people aged 50 or under. Around a third of people with the disease would develop bowel cancer by the time they are 70 if no action is taken. If Lynch Syndrome is identified as the cause of bowel cancer, patients can be offered risk-reducing measures such as more intensive post-operative colonoscopy surveillance to spot recurrences and new cancers early. As close relatives have a 50% chance of having the condition, this testing will help identify them and ensure that they also receive appropriate care.

The team systematically reviewed all the evidence surrounding Lynch Syndrome and bowel cancer, identifying and assessing 42 studies in total, before constructing a computer model of screening strategies for Lynch Syndrome. It found that all screening strategies helped improve health outcomes at a cost generally acceptable to health institutions. The most cost-effective method of identifying Lynch Syndrome involved running tests on the tumor before offering counseling and genetic testing. Read the study abstract.

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