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Pathway Genomics Launches Hereditary Colorectal Cancer Genetic Test

Published: Thursday, February 20, 2014
Last Updated: Wednesday, February 19, 2014
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Test uses NGS technology to identify gene alterations or mutations.

Pathway Genomics Corporation has announced the launch of Hereditary Colorectal Cancer DNA InsightSM, the company’s premier hereditary cancer genetic test.

Based on a simple saliva sample, the test uses next-generation sequencing (NGS) technology to identify gene alterations or mutations that increase a patient’s risk of developing certain types of cancer.

“We are committed to providing valuable tools to help physicians further improve the quality of health care,” said David Becker, Ph.D., Pathway Genomics’ chief scientific officer. “Our new hereditary colorectal cancer genetic test is part of this commitment as it empowers physicians by providing useful information about cancer risk.”

The American Cancer Society estimates 140,000 colorectal cancer cases in the U.S. in 2013. Additionally, current research data shows, on average, one in 20 people develop colorectal cancer. People with a first-degree relative with colon cancer can have two to three times the risk of developing the disease.

“Colorectal cancer is the second-leading cause of cancer-related deaths in the United States,” said Linda Wasserman, M.D., Ph.D., Pathway Genomics’ laboratory director and former director of the Clinical Cancer Genetics Care Unit at UC San Diego Moores Cancer Center. “The genetic mutations that we test for can increase a patient’s lifetime risk for the development of colorectal cancer by as much as 50 to 80 percent.”

The Hereditary Colorectal Cancer DNA Insight genetic test scans a patient’s genome for a number of conditions related to colorectal cancer, including Lynch syndrome, familial adenomatous polyposis, Li-Fraumeni syndrome, juvenile polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, hereditary diffuse gastric cancer, and PTEN-hamartoma tumor syndrome. Additionally, many of the genes tested play a role in other cancer types, which will also be reported to the clinician.

As part of its cancer test, Pathway Genomics offers a complimentary Familial Studies Program, which provides genetic testing to family members of qualified patients who are found to have genetic mutations where the risk for cancer is not fully understood - known in the field as a variant of unknown significance (VUS). The test provides information on how the patient and family members may be affected.


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