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Value of Lynch Syndrome Testing Outweighs Cost

lynch syndrome

Most cases of colon cancer develop independently, but about 3 to 5 percent of colon cancers originate from a condition called Lynch syndrome. This rare disease is caused by a genetic mutation and increases the risk for developing cancer of the colon, pancreas, liver, brain, stomach, uterus, or ovaries in later adulthood. Also known as hereditary nonpolyposis colorectal cancer, Lynch syndrome accounts for about 1 in every 12 cases of colon cancer in individuals younger than 50 years of age.

The American College of Gastroenterology (ACG) and other major medical associations recommend universal testing for Lynch syndrome in patients diagnosed with colon cancer, but financial effect of testing is not agreed upon by all medical professionals.

According to a new study presented at the ACG’s annual meeting, testing for Lynch syndrome costs about $450 per case of colon cancer. The price of the test is more outweighed by the clinical value of screening, says Aravind Sugumar, MD, MPH, assistant professor in the Department of Gastroenterology, Hepatology and Motility at the University of Kansas Medical Center, in Kansas City, who helped conduct the study.

Priyanka Hirlekar, MBBS, of the University of Kansas Medical Center, Dr. Sugumar and other colleagues identified 64 new diagnoses of colorectal cancer at their center from January 2013 through June 2015. They calculated the financial effect of the related genetic testing using Medicare reimbursements for immunohistochemistry and Quest laboratory costs for molecular testing.

Dr. Hirlekar said that the research team concluded that genetic testing for Lynch syndrome “can confirm the diagnosis at the molecular level, justify surveillance of at-risk persons, decrease the cost of surveillance by risk stratification, aid in surgical and chemoprevention management, and help in decisions concerning family planning.”

Even though the test is worthwhile when used appropriately, Dr. Hirlekar admits that the cost of the test could be substantial on a population level. With approximately 150,000 new cases per year in the United States, the cost of Lynch syndrome testing could be upwards of $68 million. It will be up to policymakers and insurers to decide whether routine genetic testing of colon cancers is practical for the U.S. health care system.


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posted on April 20, 2017 in news