AHRQ Healthcare Horizon Scanning System – Potential High-Impact Interventions Report
Priority Area 02: Cancer
Prepared for:
Agency for Healthcare Research and Quality
U.S. Department of Health and Human Services
540 Gaither Road
Rockville, MD 20850
www.ahrq.gov
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Colorectal Cancer
Methylated Septin 9 Blood Test for Colorectal Cancer Screening
Key Facts: Research has demonstrated that cells undergo a range of epigenetic modifications (e.g., DNA methylation) during transformation to cancerous cells. In particular, elevated levels of certain methylated DNA species have been observed in the blood of patients with CRC, which could serve as a readily accessible marker for cancer screening. One such marker, shown to be present specifically in the blood of individuals with CRC, is methylated DNA derived from the Septin 9 gene, the detection of which is being studied as a potential colon cancer screening test. Like other noninvasive colon cancer tests (e.g., fecal occult blood testing [FOBT]), a positive result from the methylated Septin 9 test would require that the patient undergo a colonoscopy to confirm the result and biopsy and/or resect any suspect lesions. The methylated Septin 9 test is being developed by Epigenomics AG (Berlin, Germany). In 2011, Epigenomics reported data from a trial in which a subset of 7,940 patients undergoing colonoscopy screening were also tested with the current version of the company’s Septin 9 test (Epi proColon 2.0). The company reported that, compared with colonoscopy, the Septin 9 test had a sensitivity of 68% and a specificity of 80% for colorectal cancer. In December 2012, Epigenomics released top-line data from a second trial that compared Epi proColon 2.0 and fecal immunochemical testing (FIT). Epi proColon demonstrated statistically significant noninferiority of sensitivity for CRC, and specificity was reported as 81% (versus 98% for FIT). Data on the test’s ability to detect precancerous, adenomatous polyps were not presented. In February 2013, Epigenomics submitted a premarket approval submission to FDA for the Epi proColon test; FDA granted ES-10 the submission priority review and an FDA advisory committee meeting has been scheduled to review the premarket approval application on March 25, 2014.
Key Expert Comments: Overall, most experts commenting on this intervention thought that an accurate blood-based CRC screening test obtained through venipuncture (rather than testing a stool sample) could fundamentally change CRC screening practices by increasing the percentage of patients screened for CRC. However, regarding the Epi proColon 2.0 test specifically, experts were somewhat cautious, questioning whether the reported sensitivity and specificity of the test were high enough and whether the high cost they anticipated for the test relative to other noninvasive options such as FOBT would prevent its widespread adoption.
Potential for High Impact: Lower end of the high-impact-potential range
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