Press Release Details

Quest Diagnostics Expands Hereditary Cancer Screening Offering with Lynch Syndrome Blood and Biopsy Testing for Colorectal Cancer

Company Supports March's Colorectal Cancer Awareness Month by Participating in the One Million Strong Screening Event in New York City on March 3

MADISON, N.J., Feb. 26, 2014 /PRNewswire/ -- Quest Diagnostics (NYSE: DGX), the world's leading provider of diagnostic information services, today announced new pathology and blood test offerings to help identify and assess an individual's risk of Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), an inherited genetic disorder that significantly increases the risk of colorectal and other cancers.


With the new offering, Quest Diagnostics provides a complete menu of guideline-based test services for Lynch syndrome that includes blood and tumor tissue testing. The offering enables physicians to follow professional medical guidelines for patients newly diagnosed with colorectal cancer or for unaffected patients with a strong family history of colorectal or other Lynch-associated cancers.  These guidelines, the Evaluation of Genomic Applications in Practice and Prevention (EGAPP), recommend offering screening and genetic testing for Lynch syndrome to individuals newly diagnosed with colorectal cancer regardless of age or family history.A positive result may indicate subsequent blood testing for the patient and family members to assess hereditary risk.

The Quest services are available in all 50 states and include clinician access to genetic counselors who can simplify test selection and results interpretation.

"Our new Lynch syndrome test offering is an example of how Quest delivers diagnostic insights that help physicians manage patients across the continuum of care," said Frederic Waldman M.D., Ph.D., medical director, cancer diagnostics, Quest Diagnostics. "By providing a single source of guideline-based tests for Lynch syndrome, we improve the ability of physicians to make decisions based on a holistic understanding of a patient's condition. Moreover, because we can provide tumor testing first, we help the physician reduce the potential for potentially anxiety-producing and unnecessary blood testing of patients and family members who may not truly be at risk."

"Our new Lynch syndrome offering builds on our recent introduction of our BRCAvantage genetic breast-cancer test, underscoring our commitment to advancing clinical management of hereditary cancers based on actionable, guideline-based diagnostic information," added Dr. Waldman.

Colorectal cancer is the second most common cause of cancer death, according to the American Cancer Society, with nearly 140,000 new cases expected to be diagnosed in 2014. Lynch syndrome not only increases the risk of colorectal cancer, it may cause early onset of disease before individuals have commenced screening for colorectal cancer, which medical guidelines recommend begin at age 50 in people of average risk. Lynch syndrome also increases the lifetime risk for other cancers, such as endometrial, ovarian, stomach, small bowel, renal pelvis, ureter and brain.

The Lynch syndrome blood-test offering includes a comprehensive blood test panel that evaluates the genes MLH1, MSH2 (and EPCAM terminal deletions), MSH6 and PMS2 for inherited mutations that are responsible for the majority of Lynch syndrome cases. For individuals whose family history or tumor tissue results indicate targeting one or more of these genes, gene-specific tests are available. The offering also includes a menu of validated biopsy-tumor screening options for patients with a diagnosis of colorectal, endometrial or other Lynch-associated cancers. 

The offering analyzes gene mutations based on the National Cancer Institute's Bethesda Guidelines, the Amsterdam Criteria and the EGAPP. Mutations in the genes associated with Lynch syndrome lead to a 40 to 80 percent chance of developing colorectal cancer (versus a five percent risk in the general population).  Approximately one in 35 individuals newly diagnosed with colorectal cancer will have Lynch syndrome.

Quest Diagnostics offers the industry's strongest suite of cancer screenings with leading colorectal cancer testing driven by InSure® FIT,a fecal immunochemical test for detecting primarily lower gastrointestinal bleeding disorders that may be related to colorectal cancer, and the lab-developed ColoVantage® test, the first blood-plasma DNA test in the U.S. for aiding in the detection of colorectal cancer based on the Septin9 DNA biomarker. The company also offers several genetic tests, including EGFR pathway analysis (such as for KRAS), for aiding therapy selection for colorectal cancer.

When treated in localized, early stages, colorectal cancer has a five-year survival rate of 90 percent. Yet, only 39 percent of cases are diagnosed in early stages, due to low screening rates. In honor of March's Colorectal Cancer Awareness Month, Quest Diagnostics is sponsoring the One Million Strong movement dedicated to raising awareness of colorectal cancer and celebrating the one million survivors.  Quest Diagnostics will provide complimentary InSure® FIT colorectal cancer screening test kits at the One Million Strong event in New York City on March 3.  For additional information, please visit

About Quest Diagnostics  
Quest Diagnostics is the world's leading provider of diagnostic information services that patients and doctors need to make better healthcare decisions. The company offers the broadest access to diagnostic information services through its network of laboratories and patient service centers, and provides interpretive consultation through its extensive medical and scientific staff.  Quest Diagnostics is a pioneer in developing innovative diagnostic tests and advanced healthcare information technology solutions that help improve patient care.  Additional information is available at  Follow us at and

Laura Weitzenhoff, MSLGROUP (Media): 781-684-0770  
Wendy Bost, Quest Diagnostics (Media): 973-520-2800  
Dan Haemmerle, Quest Diagnostics (Investors): 973-520-2900

SOURCE Quest Diagnostics