Skip to main content

Main menu

  • Home
  • About
    • JALM
    • Editorial Board
    • Most Read
    • Most Cited
    • Alerts
  • Articles
    • Current Issue
    • Early Release
    • Future Table of Contents
    • Archive
    • Browse by Subject
    • Special Issues & Collections
  • Info for
    • Authors
    • Reviewers
    • Subscribers
    • Advertisers
    • Permissions & Reprints
  • Abstracts
  • JALM Talk
  • Submit
  • Feedback
  • Other Publications
    • Clinical Chemistry

User menu

  • Subscribe
  • My alerts
  • Log in

Search

  • Advanced search
The Journal of Applied Laboratory Medicine
  • Other Publications
    • Clinical Chemistry
  • Subscribe
  • My alerts
  • Log in
The Journal of Applied Laboratory Medicine

Advanced Search

  • Home
  • About
    • JALM
    • Editorial Board
    • Most Read
    • Most Cited
    • Alerts
  • Articles
    • Current Issue
    • Early Release
    • Future Table of Contents
    • Archive
    • Browse by Subject
    • Special Issues & Collections
  • Info for
    • Authors
    • Reviewers
    • Subscribers
    • Advertisers
    • Permissions & Reprints
  • Abstracts
  • JALM Talk
  • Submit
  • Feedback
Research ArticleSpecial Reports

Circulating Tumor DNA for Early Cancer Detection

Clare Fiala, Vathany Kulasingam, Eleftherios P. Diamandis
DOI: 10.1373/jalm.2018.026393 Published June 2018
Clare Fiala
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Vathany Kulasingam
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, CanadaDepartment of Clinical Biochemistry, University Health Network, Toronto, Ontario, Canada.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Eleftherios P. Diamandis
Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, CanadaDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, CanadaDepartment of Clinical Biochemistry, University Health Network, Toronto, Ontario, Canada.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: Eleftherios.diamandis@sinaihealthsystem.ca
  • Article
  • Info & Metrics
  • PDF
Loading

Abstract

Background: Cancer cells release circulating tumor DNA (ctDNA) into the bloodstream, which can now be quantified and examined using novel high-throughput sequencing technologies. This has led to the emergence of the “liquid biopsy,” which proposes to analyze this genetic material and extract information on a patient's cancer using a simple blood draw.

Content: ctDNA has been detected in many advanced cancers. It has also been proven to be a highly sensitive indicator of relapse and prognosis. Sequencing the genetic material has also led to the discovery of mutations targetable by existing therapies. Although ctDNA screening is more expensive, it is showing promise against circulating tumor cells and traditional cancer biomarkers. ctDNA has also been detected in other bodily fluids, including cerebrospinal fluid, urine, saliva, and stool.

 The utility of ctDNA for early cancer detection is being studied. However, a blood test for cancer faces heavy obstacles, such as extremely low ctDNA concentrations in early-stage disease and benign mutations caused by clonal hematopoiesis, causing both sensitivity and specificity concerns. Nonetheless, companies and academic laboratories are highly active in developing such a test.

Conclusion: Currently, ctDNA is unlikely to perform at the high level of sensitivity and specificity required for early diagnosis and population screening. However, ctDNA in blood and other fluids has important clinical applications for cancer monitoring, prognosis, and selection of therapy that require further investigation.

  • Received February 27, 2018.
  • Accepted May 22, 2018.
  • © 2018 American Association for Clinical Chemistry

Pay Per Article - You may access this article (from the computer you are currently using) for 1 day for US$15.00

Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

Log in using your username and password

Forgot your user name or password?
Forgot your username or password?

Log in through your institution

If your organization uses OpenAthens, you can log in using your OpenAthens username and password. To check if your institution is supported, please see this list. Contact your library for more details.
PreviousNext
Back to top

In this issue

The Journal of Applied Laboratory Medicine: 3 (4)
Vol. 3, Issue 4
January 2019
  • Table of Contents
  • About the Cover
  • Index by author
  • Table of Contents (PDF)
  • Cover (PDF)
  • Ed Board (PDF)
  • Front Matter (PDF)
Share
Circulating Tumor DNA for Early Cancer Detection
Clare Fiala, Vathany Kulasingam, Eleftherios P. Diamandis
The Journal of Applied Laboratory Medicine Jun 2018, jalm.2018.026393; DOI: 10.1373/jalm.2018.026393
del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
Article Alerts
Sign In to Email Alerts with your Email Address
Citation Tools
Circulating Tumor DNA for Early Cancer Detection
Clare Fiala, Vathany Kulasingam, Eleftherios P. Diamandis
The Journal of Applied Laboratory Medicine Jun 2018, jalm.2018.026393; DOI: 10.1373/jalm.2018.026393

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero

  • Tweet Widget
  • Facebook Like
  • Google Plus One

Jump to section

  • Article
  • Info & Metrics
  • PDF

Related Articles

Cited By...

Similar Articles

Subjects

  • Cancer Diagnostics
  • 2018 Beating Cancer with Early Detection

Navigate

  • Home
  • About
  • Articles
  • Information for Authors
  • Submit

Other Publications

  • Clinical Chemistry
Footer logo

© 2019 American Association for Clinical Chemistry

Powered by HighWire