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USPSTF Guidelines May Have Used Old Data on Epigenomics Colorectal Cancer Screening Test

NEW YORK (GenomeWeb) – The US Preventive Services Task Force (USPSTF) failed to take into account the most recent data available on Epigenomics' Epi proColon colorectal cancer screening test when warning about its relatively low efficacy in recently updated guidelines, according to an editorial appearing in the Journal of the American Medical Association this week. 

This summer, the USPSTF issued an updated recommendation statement on colorectal cancer screening, urging its adoption by adults starting at age 50. In referencing the multiple available options for colorectal cancer screening, the group said Epi proColon — a blood-based methylated SEPT9 DNA assay approved by the US Food and Drug Administration in September — demonstrated a low sensitivity of 48 percent for detecting the disease in a test characterization study. 

This week, however, Klaus Mergener of Digestive Health Specialists and Nicholas Potter of Molecular Pathology Laboratory Network published a letter to the editor in JAMA stating the SEPT9 DNA data cited by the USPSTF were based on an earlier version of Epi proColon and not the one that ultimately received FDA approval. 

According to Mergener and Potter — who have both received financial support for their research from Epigenomics — data from one study show that the approved test had a sensitivity of 68 percent and a specificity of 80 percent, while data from another found the test to have a sensitivity of 72 percent and specificity of 81 percent, compared with 68 percent and 97 percent for a fecal immunochemical test.

"Ultimately, effective colorectal cancer screening will depend on participation as well as on the performance characteristics of the test used," Mergener and Potter wrote. "Therefore, clinicians and patients should have the most recent data to make an informed decision about which screening modality to recommend and pursue."

"We are pleased by JAMA's decision to publish this important clarification on the clinical evidence and the publication status of the FDA-approved, optimized version of Epi proColon," Epigenomics CEO Greg Hamilton said in a statement. "We will continue to work closely with US medical guideline bodies to further broaden the adoption of our blood-based test, which has the potential to remove the existing barriers for colorectal cancer screening and thereby save thousands of lives."

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