Today, Quest Diagnostics announced new pathology and blood test offerings to help identify and assess an individual’s risk of Lynch syndrome, an inherited genetic disorder that significantly increases the risk of colorectal and other cancers.
Lynch syndrome is also known as hereditary nonpolyposis colorectal cancer (HNPCC). Quest Diagnostics now provides a complete menu of guideline-based test services for Lynch syndrome, including blood and tumor tissue testing. The offering allows physicians to follow professional medical guidelines for patients newly diagnosed with colorectal cancer or unaffected patients with a family history of colorectal or other Lynch-associated cancers. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) guidelines recommend that individuals newly diagnosed with colorectal cancer are offered screening and genetic testing for Lynch syndrome. If an individual receives a positive result, subsequent blood testing for the patient and family members should be conducted to assess hereditary risk.
According to Quest Diagnostics, services are available in all 50 states and include clinician access to genetic counselors that can simplify test selection and interpret results.
“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, MD, PhD, 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.”
The Lynch syndrome blood test offering includes a blood test panel that evaluates MLH1, MSH2, MSH6 and PMS2 genes for inherited mutations that are responsible for the majority of Lynch syndrome cases. Gene-specific tests are available for individuals whose family history or tumor tissue results indicate targeting one or more of these genes. Additionally, the offering includes a menu of validated biopsy-tumor screening options for patients with diagnosis of colorectal, endometrial or other Lynch-associated cancers. Mutations in the genes associated with Lynch syndrome lead to a 40-80 percent chance of developing colorectal cancer, compared to a five percent risk in the general population. Among individuals newly diagnosed with colorectal cancer, approximately one in 35 will have Lynch syndrome.
When colorectal cancer is treated in localized, early stages, it has a five-year survival rate of 90 percent. Unfortunately, due to low screening rates, only 39 percent of cases are diagnosed in early stages.
“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,” said Dr. Waldman.
Source: Quest Diagnostics
Last updated: 2/26/14; 11:05am EST