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Updated: Jul 1, 2025
Evaluation of Colorectal Cancer Risk and Prevalence by Stool DNA Integrity Detection
Published on: June 8, 2020
Next-Generation Multitarget Stool DNA Test for Colorectal Cancer Screening
Thomas F Imperiale1, Kyle Porter1, Julia Zella1
1From the Indiana University School of Medicine, Indiana University Melvin and Bren Simon Comprehensive Cancer Center, and Regenstrief Institute, Indianapolis (T.F.I.); Exact Sciences, Madison, WI (K.P., J.Z., Z.D.G., M.C.O., S.S., J.G., P.J.L.); Boston Biostatistics Research Foundation, Framingham, MA (P.T.L.); Louisiana Research Center, Shreveport (H.A.); Great Lakes Gastroenterology Research, Mentor, OH (D.B.); Southwest Gastroenterology, Oak Lawn, IL (C.B.); and the Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN (J.B.K.).
A new multitarget stool DNA test shows higher sensitivity for detecting colorectal cancer and precancerous lesions compared to fecal immunochemical tests (FIT). However, this advanced screening tool demonstrated lower specificity for advanced neoplasia.
Area of Science:
- Gastroenterology
- Oncology
- Molecular Diagnostics
Background:
- Colorectal cancer (CRC) screening aims to detect cancer and precancerous lesions early.
- Next-generation multitarget stool DNA tests combine molecular markers and hemoglobin detection.
- Improving screening performance, particularly specificity, is a key objective.
Purpose of the Study:
- To evaluate the performance of a next-generation multitarget stool DNA test.
- To compare its sensitivity and specificity against a fecal immunochemical test (FIT).
- To assess its utility in asymptomatic adults aged 40+ undergoing screening colonoscopy.
Main Methods:
- Prospective study involving 20,176 asymptomatic adults aged 40 years or older.
- Evaluation of a multitarget stool DNA test assessing DNA markers and hemoglobin.
- Primary outcomes: sensitivity for CRC, specificity for advanced neoplasia; Secondary outcomes: sensitivity for advanced precancerous lesions, specificity for negative colonoscopy.
Main Results:
- The multitarget stool DNA test achieved 93.9% sensitivity for CRC and 43.4% for advanced precancerous lesions.
- Specificity for advanced neoplasia was 90.6%, and for negative colonoscopy was 92.7%.
- Compared to FIT, the new test showed superior sensitivity for CRC (93.9% vs 67.3%) and advanced precancerous lesions (43.4% vs 23.3%), but lower specificity for advanced neoplasia (90.6% vs 94.8%).
Conclusions:
- The next-generation multitarget stool DNA test offers enhanced sensitivity for colorectal cancer and advanced precancerous lesions over FIT.
- The trade-off for higher sensitivity is a reduction in specificity for advanced neoplasia.
- The test is a promising tool for CRC screening, though its specificity profile requires consideration.
