Find Information About:

Drugs & Supplements

Get information and reviews on prescription drugs, over-the-counter medications, vitamins, and supplements. Search by name or medical condition.

Pill Identifier

Pill Identifier

Having trouble identifying your pills?

Enter the shape, color, or imprint of your prescription or OTC drug. Our pill identification tool will display pictures that you can compare to your pill.

Get Started

My Medicine

Save your medicine, check interactions, sign up for FDA alerts, create family profiles and more.

Get Started

WebMD Health Experts and Community

Talk to health experts and other people like you in WebMD's Communities. It's a safe forum where you can create or participate in support groups and discussions about health topics that interest you.

  • Second Opinion

    Second Opinion

    Read expert perspectives on popular health topics.

  • Community


    Connect with people like you, and get expert guidance on living a healthy life.

Got a health question? Get answers provided by leading organizations, doctors, and experts.

Get Answers

Sign up to receive WebMD's award-winning content delivered to your inbox.

Sign Up

Cancer Health Center

Font Size

Whole-Genome Testing Could Become Diagnosis Tool

Case Studies of Cancer Patients Reveal Medical Potential of Quick Sequencing of Genomes

Testing Reveals Unsuspected Mutations continued...

“The syndrome carries a 90% lifetime risk of developing breast cancer and a 50% chance of developing cancer before the age of 40,” Pasche says. “It is a ticking time bomb.”

The discovery did not help the patient, but it could have major implications for her three young children, who have a 50% chance of inheriting the genetic error.

“We now know that aggressive screening and a variety of interventions, such as prophylactic mastectomy, can have a real impact on outcomes,” Pasche says.

Testing Helps Identify Treatment

The second case involved a young woman with acute myeloid leukemia.

The question was whether the woman needed a bone marrow transplant. Traditional testing left her doctors unsure about the answer.

A transplant was recommended based on the outcome of one test, which suggested that her odds of long-term survival were less than 15%.

Genome sequencing revealed a specific genetic error that was associated with a much better prognosis and a highly effective drug treatment.

“Without this information she might very well have received a bone marrow transplant,” Ley says.

In both cases, the whole genomic sequencing provided clinically useful information within six weeks. Technological advances will soon allow even faster sequencing.

“The technology is very close to being clinically applicable,” Ley says. “Many groups, including our own, are working to bring it into the clinical setting.”

Cost of Genomic Sequencing Dropping

He says whole-genome sequencing will initially benefit patients with high-risk cancers with no clear tools for identifying the best treatment.

One candidate is triple-negative breast cancer, which does not respond to targeted hormone therapies and tends to have a poor prognosis. Another is acute myeloid leukemia.

In an editorial accompanying the studies, Pasche writes that the cost of whole-genome sequencing has dropped 100-fold in less than three years. He writes that “the trend suggests that we are a lot closer to cost-effective, clinical genomics than most physicians realize.”

Lay predicts the cost will drop to around $10,000 to $15,000 within a few years.

The cheaper the cost, the more often the test will be performed. And greater use will mean more data to help researchers understand the mutations that influence susceptibility to cancer and other diseases.

“I think this will have enormous benefits from a research point of view for understanding a variety of inherited diseases,” Lay says.

1 | 2

Today on WebMD

Colorectal cancer cells
New! I AM Not Cancer Facebook Group
Lung cancer xray
See it in pictures, plus read the facts.
sauteed cherry tomatoes
Fight cancer one plate at a time.
Ovarian cancer illustration
Real Cancer Perspectives
Jennifer Goodman Linn self-portrait
what is your cancer risk
colorectal cancer treatment advances
breast cancer overview slideshow
prostate cancer overview
lung cancer overview slideshow
ovarian cancer overview slideshow
Actor Michael Douglas