Diagnostic Tests

What Physicians Need to Know

mSEPT9 Blood Test (Epi proColon) for Colorectal Cancer Screening

 

Am Fam Physician. 2019 Jul 1;100(1):10-11.

Epi proColon is a blood test used for the detection of the methylated septin 9 (mSEPT9) gene. It is approved by the U.S. Food and Drug Administration (FDA) for colorectal cancer screening in people at average risk who have declined first-line screening tests.

Accuracy

In a prospective study of 7,941 asymptomatic, average-risk adults 50 years and older who underwent screening colonoscopy at 32 clinical sites in the United States and Germany, the mSEPT9 test was 48% sensitive for colorectal cancer and 11% sensitive for advanced adenomas.1 Specificity was higher: 92% of people without colorectal cancer had a negative test result. Two meta-analyses of case-control studies of mSEPT9 tests (including Epi proColon [most common], Quest's Colo-Vantage, and others) using optical colonoscopy as the reference standard produced summary estimates of sensitivity and specificity for colorectal cancer of 62% to 71% and 91% to 92%, respectively.2,3 However, this approach of comparing the test in patients with known disease and in healthy controls will overestimate accuracy.

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TestIndicationPopulation, age range, and frequencyCost*

Methylated SEPT9 (Epi proColon)

Screening for colorectal cancer in people who decline first-line tests

Average-risk adults 50 years and older Optimal screening interval is uncertain

$192


*—Payment rate according to the Centers for Medicare and Medicaid Services' Clinical Laboratory Fee Schedule.8

TestIndicationPopulation, age range, and frequencyCost*

Methylated SEPT9 (Epi proColon)

Screening for colorectal cancer in people who decline first-line tests

Average-risk adults 50 years and older Optimal screening interval is uncertain

$192


*—Payment rate according to the Centers for Medicare and Medicaid Services' Clinical Laboratory Fee Schedule.8

One prospective multicenter study compared the mSEPT9 test with the fecal immunochemical test (FIT) in 102 adults with colorectal cancer identified on optical colonoscopy prior to surgery and in 199 average-risk adults scheduled for screening colonoscopy.4 The sensitivity of the mSEPT9 test for detecting colorectal cancer was 73% (95% CI, 64% to 81%), which was noninferior to the FIT sensitivity of 68% (95% CI, 58% to 77%). However, the specificity of mSEPT9 was lower than that of FIT (82% compared with 97%), leading to a lower area under the receiver operator characteristic curve for mSEPT9 (0.82) than for FIT (0.86).

In the prospective study that resulted in FDA approval for the FIT plus multitargeted

Address correspondence to Kenneth W. Lin, MD, MPH, at Kenneth.Lin@georgetown.edu. Reprints are not available from the author.

Author disclosure: No relevant financial affiliations.

References

show all references

1. Church TR, Wandell M, Lofton-Day C, et al.; PRESEPT Clinical Study Steering Committee, Investigators and Study Team. Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer. Gut. 2014;63(2):317–325....

2. Li B, Gan A, Chen X, et al. Diagnostic performance of DNA hypermethylation markers in peripheral blood for the detection of colorectal cancer: a meta-analysis and systematic review. PLoS One. 2016;11(5):e0155095.

3. Nian J, Sun X, Ming S, et al. Diagnostic accuracy of methylated SEPT9 for blood-based colorectal cancer detection: a systematic review and meta-analysis. Clin Transl Gastroenterol. 2017;8(1):e216.

4. Johnson DA, Barclay RL, Mergener K, et al. Plasma septin9 versus fecal immunochemical testing for colorectal cancer screening: a prospective multicenter study. PLoS One. 2014;9(6):e98238.

5. Imperiale TF, Ransohoff DF, Itzkowitz SH, et al. Multitarget stool DNA testing for colorectal cancer screening. N Engl J Med. 2014;370:1287–1297.

6. Liles EG, Coronado GD, Perrin N, et al. Uptake of a colorectal cancer screening blood test is higher than of a fecal test offered in clinic: a randomized trial. Cancer Treat Res Comm. 2017;10:27–31.

7. Parikh RB, Prasad V. Blood-based screening for colon cancer: a disruptive innovation or simply a disruption? JAMA. 2016;315(23):2519–2520.

8. Centers for Medicare and Medicaid Services. Clinical laboratory fee schedule. https://www.cms.gov/Medicare/Medicare-Fee-for-Service-Payment/ClinicalLabFeeSched/index.html. Accessed May 6, 2019.

9. Bibbins-Domingo K, Grossman DC, Curry SJ, et al. Screening for colorectal cancer: US Preventive Services Task Force recommendation statement [published corrections appear in JAMA. 2016;316(5):545 and JAMA. 2017;317(21):2239]. JAMA. 2016;315(23):2564–2575.

10. Rex DK, Boland CR, Dominitz JA, et al. Colorectal cancer screening: recommendations for physicians and patients from the U.S. Multi-Society Task Force on Colorectal Cancer. Gastroenterol. 2017;153(1):307–323.

This series is coordinated by Kenny Lin, MD, MPH, Deputy Editor.

 

 

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