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Challenges in Using ctDNA to Achieve Early Detection of Cancer

View ORCID ProfileImran S Haque, Olivier Elemento
doi: https://doi.org/10.1101/237578
Imran S Haque
Freenome
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Olivier Elemento
Weill Cornell Medicine
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Abstract

Early detection of cancer is a significant unmet clinical need. Improved technical ability to detect circulating tumor-derived DNA (ctDNA) in the cell-free DNA (cfDNA) component of blood plasma via next-generation sequencing and established correlations between ctDNA load and tumor burden in cancer patients have spurred excitement about the possibilities of detecting cancer early by performing ctDNA mutation detection.

We reanalyze published data on the expected ctDNA allele fraction in early-stage cancer and the population statistics of cfDNA concentration to show that under conservative technical assumptions, high-sensitivity cancer detection by ctDNA mutation detection will require either more blood volume (150-300mL) than practical for a routine screen or variant filtering that may be impossible given our knowledge of cancer evolution, and will likely remain out of economic reach for routine population screening without multiple-order-of-magnitude decreases in sequencing cost. Instead, new approaches that integrate ctDNA mutations with multiple other blood-based analytes (such as exosomes, circulating tumor cells, ctDNA epigenetics, metabolites) as well as integration of these signals over time for each individual may be needed.

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The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC 4.0 International license.
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Posted December 21, 2017.
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Challenges in Using ctDNA to Achieve Early Detection of Cancer
Imran S Haque, Olivier Elemento
bioRxiv 237578; doi: https://doi.org/10.1101/237578
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Challenges in Using ctDNA to Achieve Early Detection of Cancer
Imran S Haque, Olivier Elemento
bioRxiv 237578; doi: https://doi.org/10.1101/237578

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