Accurately diagnosing genetic disease prevents cancer, saves lives

Author: The Ohio State University, Comprehensive Care Center
Published: Updated:
WINK News

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.

Content provided by The Ohio State University Comprehensive Cancer Center and the Arthur G. James Cancer Hospital & Richard J. Solove Research Institute

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