Heather Hampel HeadshotA single upfront genomic test is more effective for detecting Lynch syndrome in colorectal cancer (CRC) patients than the traditional multiple sequential testing approach, according to new clinical data reported by the OSUCCC – James.

Researchers say offering this type of advanced genetic testing at the time of diagnosis could help guide and expedite treatment decisions for many patients who have CRC while simultaneously identifying patients who also are likely to have Lynch syndrome, a genetic condition that predisposes to colorectal and other types of cancer, including uterine, ovarian and stomach.

For this study, researchers wanted to know if an upfront tumor-sequencing approach using a single test that screens for multiple mutations could replace the current multiple-test screening approach commonly used to determine if a patient has Lynch syndrome.

To do this, researchers analyzed tumor samples from 419 CRC patients who participated in the Ohio Colorectal Cancer Prevention Initiative (OCCPI), a statewide research study to screen newly diagnosed CRC patients and their biological relatives for Lynch syndrome.

All OCCPI study participants had their tumor samples analyzed using the traditional multiple-test genetic testing approach and the single upfront genomic tumor-sequencing test approach in which a single tumor sample was analyzed for multiple mutations simultaneously.

Researchers compared results from the two screening methods and found that the upfront tumor-sequencing approach was more sensitive and more specific for detecting Lynch syndrome than the old, multiple-test model.

Tumor sequencing resulted in a 10 percent improvement in Lynch syndrome detection rates while also providing important information about treatment options for the patients.

Study findings were reported in the March 29 issue of the medical journal JAMA Oncology. Heather Hampel, MS, LGC, associate director for biospecimen research and member of the Molecular Biology and Cancer Genetics Program at the OSUCCC – James, was corresponding author of the study and is the principal investigator of OCCPI.

OCCPI is funded by Pelotonia, a grassroots cycling event that has raised more than $173 million for cancer research at Ohio State.

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