Dr. Oxnard on Potential of Genome Wide Sequencing With cfDNA

Geoffrey R. Oxnard, MD
Published: Monday, Sep 24, 2018



Geoffrey R. Oxnard, MD, associate professor of medicine, Harvard Medical School, thoracic oncologist, medical oncology, Dana-Farber Cancer Institute, discusses the potential impact of implementing cell-free DNA (cfDNA) tests as a method to detect signs of early stage cancer.

Initial results from the Circulating Cell-free Genome Atlas Study in patients with early stage lung cancer strongly suggest that cfDNA tests can be used with a high degree of specificity to detect signs of disease. There were 3 prototype sequencing assays that were used—paired cfDNA and white blood cell-targeted sequencing for single nucleotide variants/indels, paired cfDNA and WBC whole genome sequencing for copy number variation, and cfDNA whole genome bisulfite sequencing for methylation.

Oxnard says that this approach to a cancer detection test is different than what is being done in the clinic currently. If this assay was done with the next-generation sequencing panels that are done today, then there would be a problem with false positives. Oxnard says that the tools available right now cannot be used to detect cancer, and they need to be redeveloped for this specific purpose.


Geoffrey R. Oxnard, MD, associate professor of medicine, Harvard Medical School, thoracic oncologist, medical oncology, Dana-Farber Cancer Institute, discusses the potential impact of implementing cell-free DNA (cfDNA) tests as a method to detect signs of early stage cancer.

Initial results from the Circulating Cell-free Genome Atlas Study in patients with early stage lung cancer strongly suggest that cfDNA tests can be used with a high degree of specificity to detect signs of disease. There were 3 prototype sequencing assays that were used—paired cfDNA and white blood cell-targeted sequencing for single nucleotide variants/indels, paired cfDNA and WBC whole genome sequencing for copy number variation, and cfDNA whole genome bisulfite sequencing for methylation.

Oxnard says that this approach to a cancer detection test is different than what is being done in the clinic currently. If this assay was done with the next-generation sequencing panels that are done today, then there would be a problem with false positives. Oxnard says that the tools available right now cannot be used to detect cancer, and they need to be redeveloped for this specific purpose.



View Conference Coverage
Online CME Activities
TitleExpiration DateCME Credits
Community Practice Connections™: 18th Annual International Lung Cancer Congress®Oct 31, 20181.5
Clinical Interchange™: Translating Research to Inform Changing Paradigms: Assessment of Emerging Immuno-Oncology Strategies and Combinations across Lung, Head and Neck, and Bladder CancersOct 31, 20182.0
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