Stool DNA Test

Scientists at the Johns Hopkins have developed a safe and reliable stool test that can detect the earliest, curable stages of colon cancer. Early studies of the test, which uses a newly developed technology to detect and highlight a key genetic marker of the disease, were reported in the January 31, 2002, issue of the New England Journal of Medicine, and are the culmination of more than a decade of efforts to uncover disease mutations and apply the findings to screening and early detection. The investigators expect it will take an additional three to five years before the test will be available clinically.

The new test is believed to be the first to pinpoint, reliably and repeatedly, colon cancer-linked APC gene mutations in DNA shed into feces. First identified in 1991 by Johns Hopkins research teams, APC mutations initiate the cascade of molecular and cellular errors that eventually result in tumor formation. Although the Johns Hopkins team always suspected this early colon cancer marker was present in cells shed into stool, several years of additional research were required to develop the technology to identify precisely the mutated DNA in the stool of patients with early forms of colon cancer.

Informational video of stool DNA Test, courtesy of Exact Sciences.

ColoSure™ is the currently available DNA stool test, though it is not routinely covered by insurance or medicare.  ColoSure™ can be a useful alternative for asymptomatic patients who are at average risk for developing colorectal cancer and who are unwilling or unable to undergo a colonoscopy.  You should talk to your doctor to see if ColoSure™ makes sense for you to use. 

Click here to download an informational pamphlet on ColoSure™

Previous: Virtual Colonoscopy                                                                Next: Home