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Published on: April 11, 2016
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High-Throughput and Sensitive Quantification of Circulating Tumor DNA by Microfluidic-Based Multiplex PCR and
Yinghui Guan1, Oleg Mayba2, Thomas Sandmann2
1Department of Oncology Biomarker Development, Genentech, Inc., South San Francisco, California.
The Journal of Molecular Diagnostics : JMD
|September 5, 2017
Summary
This study presents a new microfluidics multiplex PCR sequencing method for highly sensitive and accurate detection of circulating tumor DNA (ctDNA). This advanced workflow improves ctDNA analysis for cancer monitoring in clinical trials.
Area of Science:
- Molecular Biology
- Genomics
- Biotechnology
Background:
- Circulating tumor DNA (ctDNA) shows promise for noninvasive cancer monitoring.
- Existing ctDNA detection methods face limitations in sensitivity, throughput, and patient coverage.
Purpose of the Study:
- To adapt and characterize microfluidics multiplex PCR sequencing for high-throughput and sensitive ctDNA quantitation.
- To enhance ctDNA analysis sensitivity and accuracy for clinical applications.
Main Methods:
- Developed a multiplex PCR preamplification step for low-input ctDNA analysis.
- Integrated preamplification into a microfluidics multiplex PCR sequencing workflow.
- Created an empirical Bayesian model for accurate variant calling and error characterization.
Main Results:
- Achieved high-throughput and sensitive quantitation of ctDNA.
- Demonstrated 92% sensitivity and 100% specificity in clinical validation for ctDNA mutation detection.
- Established proof of concept for using the workflow in monitoring disease progression.
Conclusions:
- The novel ctDNA workflow offers a sensitive and high-throughput platform for mutation detection and disease monitoring.
- This technology can be implemented in clinical trials for plasma ctDNA analysis.
- The developed methods enhance confidence and accuracy in ctDNA variant calling.
