Colorectal cancer outcomes could be improved with regular genetic screening for Lynch syndrome

Published on February 16, 2013 at 6:13 AM · No Comments

Led by Charis Eng, M.D., Ph.D., Hardis Chair and Founding Director of the Cleveland Clinic Lerner Research Institute's Genomic Medicine Institute, the researchers studied three approaches, moving certain responsibilities (determining which colorectal cancer patients should receive genetic counseling/testing for Lynch syndrome and contacting the patients with results and recommendations) from the surgeon to genetic counselors. Genetic counselors who received genetic pathology reports on colorectal tumor sections, determined patients who fit criteria consistent with Lynch syndrome, and reached out to patients for further testing saw an increase in referrals and number of patients tested for and diagnosed with Lynch syndrome, the study found.

The Cleveland Clinic researchers have addressed one of the two genomic medicine agenda items of the CDC's Healthy People 2020.

"One of the goals of Healthy People 2020 is to identify as many people who have inherited colon cancer as possible, so they may be referred to genetics professionals for genetic counseling, and management recommendations," said Dr. Eng. "This paper shows successful implementation of a rapid, cost-effective system-wide screening to detect potential Lynch syndrome. Individuals with Lynch syndrome can get colon cancer at a very young age, are susceptible to multiple cases of the disease, and are also predisposed to other cancers. Instituting high risk surveillance early and routinely saves lives and is an example of value-based delivery of healthcare."

The eight-year, collaborative study also highlighted a need to improve patient education regarding genetic counseling/testing. Perceived lack of benefit and underestimated risk of Lynch syndrome and associated cancers caused some patients not to pursue testing.

Source: Cleveland Clinic

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