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The New England Journal of MedicineA Cell-free DNA Blood-Based Test for Colorectal Cancer Screening

Enhancing Colorectal Cancer Screening with cfDNA Testing: Implications for Early Detection

This study evaluates the effectiveness of a cell-free DNA (cfDNA) blood-based test in identifying colorectal cancer and advanced precancerous lesions in a screening-eligible population. With colorectal cancer being a leading cause of cancer-related deaths, early detection is paramount. This research sheds light on the potential of cfDNA testing as a tool to enhance screening adherence and early detection rates.

Study Design:

  • Population: The study involved 10,258 individuals, with 7,861 meeting the eligibility criteria and included in the evaluation.
  • Methodology: The study assessed the cfDNA test’s sensitivity for detecting colorectal cancer and its specificity for advanced neoplasia (cancer or advanced precancerous lesions) compared to screening colonoscopy.

Key Findings:

  • Colorectal Cancer Sensitivity: The cfDNA test showed an 83.1% sensitivity for detecting colorectal cancer.
  • Stage-Specific Sensitivity: Sensitivity for stage I, II, or III colorectal cancer was 87.5%.
  • Advanced Precancerous Lesions Sensitivity: The test demonstrated a 13.2% sensitivity for identifying advanced precancerous lesions.
  • Specificity for Advanced Neoplasia: The specificity of the test for detecting any advanced neoplasia was 89.6%.
  • Specificity for Negative Colonoscopy: When no neoplasia was detected by colonoscopy, the test’s specificity was 89.9%.

HCN Medical Memo
In an average-risk screening population, this cfDNA blood-based test had 83% sensitivity for colorectal cancer, 90% specificity for advanced neoplasia, and 13% sensitivity for advanced precancerous lesions.

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