Related Experiment Video
Updated: Sep 20, 2025
08:25
Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
11.3K
Early detection of multiple cancer types using multidimensional cell-free DNA fragmentomics
Hua Bao1, Shanshan Yang1, Xiaoxi Chen1
1Geneseeq Research Institute, Nanjing Geneseeq Technology Inc., Nanjing, China.
Nature Medicine
|May 27, 2025
Summary
A new multicancer early detection (MCED) test shows promise for improving cancer screening. Analyzing plasma cell-free DNA, the test demonstrated high accuracy in detecting cancer and predicting its origin.
Area of Science:
- Oncology
- Genomics
- Biomarker Discovery
Background:
- Current cancer screening methods have limitations in sensitivity and scope.
- Early detection of cancer significantly improves patient outcomes and treatment efficacy.
- Multicancer early detection (MCED) tests offer a potential paradigm shift in cancer diagnostics.
Purpose of the Study:
- To evaluate the performance of a novel MCED test utilizing plasma cell-free DNA analysis.
- To assess the sensitivity, specificity, and tissue-of-origin prediction accuracy of the MCED test.
- To explore the utility of the MCED test in both diagnosed cancer patients and asymptomatic individuals.
Main Methods:
- Whole-genome sequencing of plasma cell-free DNA.
- Analysis of genetic and fragmentomics features for cancer detection.
- Validation in an internal cohort (3,021 cancer, 3,370 controls) and an independent cohort (677 cancer, 687 controls).
- Prospective study in 3,724 asymptomatic participants.
Main Results:
- Independent cohort: 87.4% sensitivity, 97.8% specificity, 82.4% tissue-of-origin accuracy.
- Prospective study: 53.5% sensitivity (primarily early-stage cancers), 98.1% specificity.
- The MCED test demonstrated robust performance across validation cohorts.
Conclusions:
- The evaluated MCED test shows significant potential for enhancing early cancer detection.
- The test's ability to predict tissue of origin aids in clinical decision-making.
- Further prospective studies are warranted to confirm its clinical utility in diverse populations.
