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.
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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.



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