Accurately Diagnosing Genetic Disease Prevents Cancer, Saves Lives

Study finds gene test identifies Lynch Syndrome and advises cancer treatment

(COLUMBUS, Ohio) – New research testing a method of genetic screening in colon cancer patients could be the key to preventing cancer for thousands of people. Those with a family history of colon cancer could actually have Lynch syndrome, an inherited disorder that drastically increases their risk of developing the disease. But correctly diagnosing the disorder can prevent cancer and save lives. Researchers at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James) tested a one-step process that simultaneously screens all of tumor’s genes for mutations, and found that it’s faster and more accurate at identifying Lynch syndrome than current screening methods.

    “Correctly identifying Lynch syndrome is critical because these patients likely have children, siblings or other family members that have this genetic disorder and are unaware of their cancer risk,” said Heather Hampel, MS, LGC, a genetic counselor at OSUCCC – James. “Identifying the disease in tumors allows us to save lives by testing those at-risk relatives and beginning intense cancer screenings for those with Lynch syndrome.”

   The study used a single-step tumor sequencing technique to test 419 tumor samples and yielded a 10 percent improvement in the detection of Lynch syndrome compared to existing, multi-step screening methods.

    Because tumor sequencing provides data on every gene, the test also provides information to doctors about how that particular patient will respond to different cancer treatments and immunotherapies, helping them plot the most effective course for fighting the disease. Researchers are calling for the test to be standard for every colon cancer patient at the time of diagnosis.

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Jay McDaniel looks at a family photo album. He knew he had a family history of colon cancer when he was diagnosed, but learned that both he and his daughter have Lynch syndrome, an inherited disease that dramatically increases their cancer risk.

Heather Hampel, a licensed genetic counselor at The Ohio State University Comprehensive Center Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, led a study that found that a one-step genetic test for Lynch syndrome was more accurate than existing, more complicated screening methods for detecting the condition.

Blood samples are prepared for Lynch syndrome testing in a lab at The Ohio State University Comprehensive Center Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute. The inherited gene mutation predisposes someone to colon cancer, and correctly diagnosing it can be the key to cancer prevention for those patients.

A new study by researchers at The Ohio State University Comprehensive Center Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute found that a one-step genetic test is more accurate than existing, more complicated screenings for Lynch syndrome, a genetic disease that dramatically increases someone’s risk of colon cancer.