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Licensed Unlicensed Requires Authentication Published by De Gruyter March 11, 2020

Circulating tumor DNA (ctDNA) is not a good proxy for liquid biopsies of tumor tissues for early detection

  • Clare Fiala and Eleftherios P. Diamandis EMAIL logo


The important conclusion that ctDNA is a mediocre proxy for liquid biopsies of tumor tissues for early detection was reached after new data were published recently in Nature Genetics. These data have shown that most mutations found in ctDNA are not related to tumor tissues but rather to the precancerous condition clonal hematopoiesis. Previously, our group has analyzed the sensitivity of the ctDNA test for early detection of cancer and concluded that the achievable sensitivity, especially for small tumors, is not enough to have clinical value. Now, the new data have shown a serious compromise in specificity. We believe that scientists who are interested in early cancer diagnostics should be aware of the limitations of this test, in both sensitivity and specificity. Our work may prompt further work aiming to alleviate these important issues in the cancer diagnostics field.

Corresponding author: Eleftherios P. Diamandis, MD, PhD, FRCP(C), FRSC, Head of Clinical Biochemistry, Mount Sinai Hospital and University Health Network, 60 Murray St. Box 32, Floor 6, Rm L6-201, Toronto, ON M5T 3L9, Canada; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada; and Department of Clinical Biochemistry, University Health Network, Toronto, ON, Canada, Phone: +(416) 586-8443

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: Dr. Eleftherios P. Diamandis discloses that he holds a consultant/advisory role with Abbott Diagnostics. Miss Clare Fiala has nothing to disclose.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Received: 2020-01-22
Accepted: 2020-02-19
Published Online: 2020-03-11
Published in Print: 2020-09-25

©2020 Walter de Gruyter GmbH, Berlin/Boston

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