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First Lung Cancer Risk Genetic Test Developed

Lung cancer is the most deadly cancer in America, with nearly 250,000 new cases diagnosed this year, which is more than the next four most deadly cancers combined.  Although half of all Americans who continue to smoke will die of lung cancer or illnesses related to tobacco use, 20 percent of lung cancer cases occur in those who never smoked. Lung cancer, like all cancers, also has a genetic component that determines each individual’s susceptibility.

A team at the Edward Via College of Osteopathic Medicine’s Center for Bioinformatics and Genetics, has discovered new genetic markers that predicts one’s risk of developing lung cancer.  With the high rate of smoking, especially in our Appalachian region, this test could be a valuable tool for physicians to urge their patients to stop.

The researchers took the genetic markers and created a highly accurate test that can be used to determine if someone is at an elevated risk for developing lung cancer and to aid doctors in discouraging patients from smoking. More importantly, it can help a doctor better monitor a patient for a new lung cancer because early detection of lung cancer significantly improves patient outcomes. 

This new lung cancer test evaluates DNA found in a drop of blood. It turns out that the best genetic markers were found in the “junk DNA” or “dark matter DNA,” which is the part of the human genome that has been studied the least. The team has identified similar genetic markers for a variety of other cancers – breast, ovarian, prostate, brain and more – and is now verifying new markers to other diseases, starting with autism. 

Dr. Harold “Skip” Garner, the senior author on a paper appearing in Oncogene, Executive Director of the Center for Bioinformatics and Genetics, and Senior Research Member at the Gibbs Cancer Center, specializes in the study of dark matter DNA. His group first discovered new markers by downloading thousands of human genomes from public databases and reprocessed them to improve accuracy. They then looked at about a million places in the genomes which are highly sensitive to stress and can mutate, causing disease. “We use supercomputer power to measure these sensitive regions, which seem to play a major role in cancer, heart disease and neurological disease,” said Dr. Garner.

Dr. Garner's research is being commercialized by Orbit Genomics, Inc. “The company is currently fundraising to quickly bring this test to the market. We believe that it can save many lives from this very prevalent, devastating cancer and other diseases,” said Dede Willis, CEO and cofounder of Orbit Genomics, Inc.

The research paper titled "High-depth, high-accuracy microsatellite genotyping enables precision lung cancer risk classification" can be reviewed at