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Detection of Cell-Free DNA in Blood Plasma Samples of Cancer Patients
Published on: September 9, 2020
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Identification of Actionable Genomic Alterations Using Circulating Cell-Free DNA
Nora S Sánchez1, Michael P Kahle1, Ann Marie Bailey1
1The University of Texas MD Anderson Cancer Center, Houston, TX.
JCO Precision Oncology
|September 14, 2020
Summary
Cell-free DNA (cfDNA) next-generation sequencing detects genomic alterations in most advanced cancer patients. Clinical actionability is high, but treatment is limited by performance status and trial availability.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Noninvasive genomic testing is crucial for advanced cancers.
- Cell-free DNA (cfDNA) sequencing offers a promising approach.
Purpose of the Study:
- To determine the frequency of detectable genomic alterations using cfDNA sequencing.
- To assess the clinical actionability of these alterations in advanced cancer patients.
Main Methods:
- Prospective enrollment of 575 patients with diverse advanced/metastatic cancers.
- cfDNA next-generation sequencing performed on all participants.
- Assessment of identified alterations for therapeutic implications and clinical actionability.
Main Results:
- 76.2% of patients had detectable alterations; 35.7% had high clinical actionability.
- In specific tumor types (≥10 patients), ≥50% showed actionable alterations.
- Genomically matched therapy was administered to 10% of eligible patients, often limited by performance status.
Conclusions:
- cfDNA sequencing is accessible and detects genomic alterations in most advanced cancer patients.
- Clinical utility is notable for patients pursuing investigational therapies with adequate performance status.
- Further research is needed to optimize cfDNA testing timing in treatment protocols.

