Corporate Banner
Satellite Banner
Next Gen Sequencing
Scientific Community
Become a Member | Sign in
Home>News>This Article

Scientists Pair Blood Test and Gene Sequencing to Detect Cancer

Published: Friday, November 30, 2012
Last Updated: Friday, November 30, 2012
Bookmark and Share
Scientists have combined the ability to detect cancer DNA in the blood with genome sequencing technology in a test that could be used to screen for cancers, monitor cancer patients for recurrence and find residual cancer left after surgery.

"This approach uses the power of genome sequencing to detect circulating tumor DNA in the blood, providing a sensitive method that can be used to detect and monitor cancers," says Victor Velculescu, M.D., Ph.D., professor of oncology and co-director of the Cancer Biology Program at Johns Hopkins.

A report describing the new approach appears in the Nov. 28 issue of Science Translational Medicine. To develop the test, the scientists took blood samples from late-stage colorectal and breast cancer patients and healthy individuals and looked for DNA that had been shed into the blood.

The investigators applied whole-genome sequencing technology to DNA found in blood samples, allowing them to compare sequences from cancer patients with those from healthy people. The scientists then looked for telltale signs of cancer in the DNA: dramatic rearrangements of the chromosomes or changes in chromosome number that occur only in cancer cells.

No signs of cancer-specific chromosome changes were found in the blood of healthy individuals, but the investigators found various cancer-specific alterations in the blood of all seven patients with colon cancer and three patients with breast cancer. Using specialized bioinformatic approaches, they were able to detect these alterations in a small fraction of the millions of DNA sequences contained in the blood sample.

"This is proof of the principle that genome sequencing to identify chromosomal alterations may be a helpful tool in detecting cancer DNA directly in the blood and, potentially, other body fluids," says Rebecca Leary, a postdoctoral fellow at Johns Hopkins. "But larger clinical trials will be needed to determine the best applications of this approach."

The investigators note that there may be less circulating DNA in early stage cancers, and, thus, these would be more challenging to detect without more extensive sequencing. As sequencing costs decrease, the investigators expect that detecting earlier-stage cancers may become more feasible.

Velculescu says that additional research will focus on determining how the new test could help doctors make decisions on treating patients. For example, the blood test could identify certain chromosomal changes that guide physicians to prescribe certain anti-cancer drugs or decide patient enrollment in clinical trials for drugs that target specific gene defects. Currently, physicians use cellular material biopsied from the original tumor to make these decisions, but tumor material can often be inaccessible or unavailable.

The Johns Hopkins study builds on the team's earlier work using genomic sequencing of DNA in the blood to find rearrangements of chromosomes. The previous work required samples of the original tumor and knowledge of DNA changes in that tumor to find those same changes in the blood. This new test has no need for original tumor samples and includes an analysis of changes in the copy number of chromosomes.

"It's an evolution of technologies we're developing for cancer diagnosis, and, by combining our knowledge, we can build better ways to detect disease," says Luis Diaz, M.D., an oncologist and director of the Swim Across America laboratory at Johns Hopkins.

Funding for the study was provided by the National Institutes of Health (CA121113, CA057345, CA043460), The European Community's Seventh Framework Programme, the Virginia & D.K. Ludwig Fund for Cancer Research, the American Association for Cancer Research Stand Up to Cancer-Dream Team Translational Cancer Research Grant, the National Colorectal Cancer Research Alliance, the United Negro College Fund-Merck Fellowship, and Swim Across America.

Other scientists contributing to the research include Mark Sausen, Isaac Kinde, Nickolas Papadopoulos, Kenneth Kinzler, and Bert Vogelstein from Johns Hopkins; John Carpten and David Craig from the Translational Genomic Research Institute; Joyce O'Shaughnessy from the Baylor Sammons Cancer Center; and Giovanni Parmigiani from the Dana Farber Cancer Institute.

Kinzler, Vogelstein, Diaz and Velculescu are co-founders of Inostics and Personal Genome Diagnostics and are members of their Scientific Advisory Boards. They own Inostics and Personal Genome Diagnostics stock, which is subject to certain restrictions under Johns Hopkins University policy. The terms of these arrangements are managed by The Johns Hopkins University in accordance with its conflict-of-interest policies. Parmigiani is on the scientific advisory board of Counsyl.

Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,700+ scientific posters on ePosters
  • More than 3,800+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Related Content

New Autism-Causing Genetic Variant Identified
Novel approach expected to be useful for other diseases too.
Saturday, March 28, 2015
Scientists Use Genome Sequencing to Prove Herbal Remedy Causes Upper Urinary Tract Cancers
DNA mutation "signature" identified in cancers linked to birthwort herb.
Monday, August 12, 2013
Scientific News
New Virus Identified In Blood Supply
Scientists have discovered a new virus that can be transmitted through the blood supply.
Far-reaching Genetic Study of 1,000 UK People
300,000 gene variants from 1,000 people made publically available via F1000Research.
DNA Alterations as Among Earliest to Occur in Lung Cancer Development
Genetic footprints of precancer detectable in some blood samples.
Targeting DNA
Protein-based sensor could detect viral infection or kill cancer cells.
Genetic Sleuthing
Sabeti team applies Ebola methods to shed light on spread of Lassa fever.
Seeking “Gold Standard” Wastewater Treatments
Metagenomic analyses lend insights into how microbes break down wastewater contaminants.
Using Genetic Sequencing to Manage Cancer in Children
A team of scientists have investigated the feasibility of incorporating clinical sequencing information into the care of young cancer patients.
Big Data Tool to Reveal Immune System Role in Diseases
Researchers from the Icahn School of Medicine at Mount Sinai and Princeton University have designed a new online tool that predicts the role of key proteins and genes in diseases of the human immune system.
Next-Gen Genomic Tests Identify Brain-Eating Amoeba
New UCSF center aims to make tests more affordable and accessible to doctors.
Genetic Overlapping in Multiple Autoimmune Diseases May Suggest Common Therapies
CHOP genomics expert leads analysis of genetic architecture, with eye on repurposing existing drugs.

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,700+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,800+ scientific videos