Screening for Lynch syndrome improves health outcomes at an acceptable cost

Screening families of patients with colorectal cancer for a genetic condition would reduce their risk of developing colorectal, uterine, and ovarian cancers, new research has found. Testing for Lynch syndrome in patients younger than 50 years who have colorectal cancer was found to be cost-effective in this study, done in the United Kingdom (UK).

In a major study, Ian Frayling, MD, from Cardiff University School of Medicine (Cardiff, Wales) and researchers from the University of Exeter Medical School (Exeter, England) assessed the effectiveness of introducing a UK-wide screening program for the genetic condition Lynch Syndrome.

Lynch syndrome is a caused by changes in genes that check the spelling in DNA. The condition increases the risk of people developing cancer, particularly colorectal cancer and cancers of the uterus and ovaries later in life. Without testing cancers, it is not obvious that they are caused by Lynch syndrome, and so it is often not diagnosed.

Lynch syndrome is responsible for approximately 1 in 12 cases of colorectal cancer in people younger than 50 years. Approximately one-third of people with Lynch syndrome develop colorectal cancer by age 70 years if no action is taken.

"If Lynch Syndrome is identified as the cause of bowel [colorectal] cancer, patients can be offered risk-reducing measures such as more intensive postoperative colonoscopy surveillance to spot recurrences and new cancers early," said Frayling, the clinical adviser to the study.

The findings, published in Health Technology Assessment (2014; doi:10.3310/hta18580), indicate that screening the 1,700 people younger than 50 years with newly diagnosed colorectal cancer (in England) each year would identify two thirds of these whose cancer was caused by Lynch Syndrome. Within this identified group, the findings suggest that 40 further cases of cancer could be avoided in them and in their relatives.

"This is a very significant piece of work, which is much to be welcomed,” added Frayling. "It justifies the National Health Services in the UK in implementing such testing, which is already carried out in other European countries. Those with Lynch Syndrome will now be found and given the care that they warrant, saving time, lives, money, and resources. Colleagues around the world are eager to use the model developed by the University of Exeter's Medical School, so the benefits extend far beyond the UK."

The team systematically reviewed all the evidence surrounding Lynch Syndrome and colorectal cancer. They identified and assessed a total of 42 studies, and then they constructed a computer model of screening strategies for Lynch Syndrome.

They found that all screening strategies helped improve health outcomes at a cost generally acceptable to the United Kingdom's National Health Service. The most cost-effective method of identifying Lynch Syndrome involved running tests on the tumor before offering counseling and genetic testing.

In a separate analysis, which has not yet been published or peer-reviewed, the team used the same model to estimate that 28 cancer-related deaths (24 from colorectal cancer and four from uterine cancer) could be prevented each year if Lynch syndrome screening for people with colorectal cancer was introduced.

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