A molecular blood test that identifies changes in DNA associated with colorectal cancer is now available in the United States.
The test is designed to aid the detection of colorectal cancer, the third leading cause of cancer-related deaths, but only 40% of cases are diagnosed in early stages, due to low screening rates.
The new test is based on DNA methylation of the Septin9 gene, a proprietary biomarker associated with colorectal cancer that was identified by Epigenomics AG (Frankfurt, Germany). Epigenomics has demonstrated in more than a half dozen peer-reviewed studies involving approximately 3,000 specimens of patients with diagnosed colorectal cancer and of healthy control subjects that methylated Septin9 in blood plasma indicates an increased likelihood of colorectal cancer.
Epigenomics is sponsoring a multicenter clinical study named PRESEPT in collaboration with Quest Diagnostics (Madison, NJ, USA) and other organizations to evaluate the Septin9 biomarker's performance for colorectal cancer screening in screening-guideline-eligible individuals who have not been diagnosed with colorectal cancer. Quest Diagnostics is the first commercial laboratory in the USA to offer a laboratory-developed test based on the Septin9 biomarker.
Jon R. Cohen, MD senior vice president and chief medical officer of Quest Diagnostics said, "Early detection rates are dismally low, largely because many patients find existing tests and procedures invasive or unpleasant. Our ColoVantage colorectal cancer test, which is based on Septin9, has yet to be clinically validated as a screening test. Rather, it may promote further evaluation in patients who have resisted testing in the past or as an adjunct to existing procedures." ColoVantage was validated in multiple studies and achieved an overall 70% sensitivity and 89% specificity. ColoVantage has successfully detected cancer at all stages. Patients who test positive for methylated Septin9 should be further evaluated for the presence of colorectal cancer.