Pathway Genomics Launches Updated Next Generation Sequencing Tests for Colorectal Cancer - Pathway Genomics
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Pathway Genomics Launches Updated Next Generation Sequencing Tests for Colorectal Cancer

SAN DIEGO, Mar 26, 2015 (BUSINESS WIRE) — Pathway Genomics Corporation, a forward-thinking big data healthcare company and global precision medicine clinical laboratory, announced it has launched ColoTrue™, a comprehensive panel that combines next-generation sequencing with deletion/duplication analysis to detect pathogenic variants in 15 high-risk colorectal cancer susceptibility genes. Pathway has also launched a smaller panel, LynchSyndromeTrue™, which tests for Lynch syndrome, the most common form of hereditary colon cancer.

While most colorectal cancer occurs sporadically, about 5% of cases are due to a hereditary genetic change that can be passed down through families. ColoTrue™ uses sequencing and deletion/duplication analysis to look for pathogenic variants in a wide range of genes implicated in hereditary colorectal cancer, including APC, BMPR1, CDH1, CHEK2, EPCAM (deletion/duplication only), MDM2 (SNP–309 single-site analysis only), MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, and TP53.

“ColoTrue allows providers to test several high-risk colorectal cancer genes at once, rather than testing gene by gene,” said Ardy Arianpour, Pathway Genomics’ chief commercial officer. “This saves time and provides valuable personalized information about other potential cancer risks and options for management.”

Pathogenic variants in the genes tested by ColoTrue™ raise the risk for colorectal cancer but may also be associated with increased risks of other types of cancer. With every pathogenic variant found, Pathway Genomics provides guidance for providers about specific cancer risks and options for management. Knowing the individual risk profile for each patient helps clinicians create a personalized plan for surveillance and preventative strategies.

“A pathogenic variant in a cancer susceptibility gene can have tremendous impact on a patient, not only for their own health management but for their family’s health,” says Julie Neidich, MD, FACMG, FAAP, Pathway Genomics’ laboratory medical director. “It’s important for providers to consider genetic testing in cases of colorectal cancer, especially where the patient is younger or has a strong family history of cancer.”

LynchSyndromeTrue™ is a panel designed specifically for patients with features highly suggestive of Lynch syndrome. LynchSyndromeTrue™ tests five genes associated with Lynch syndrome (EPCAM,MLH1, MSH2, MSH6 and PMS2), and can be easily reflexed to ColoTrue™ if no pathogenic variants are found. The addition of reflex testing allows clinicians to appropriately utilize panel testing without creating unnecessary costs for patients and insurance companies.

To learn more about ColoTrue™ and LynchSyndromeTrue™, visit

About Pathway Genomics Corporation

Since its founding in 2008, Pathway Genomics has become known for its dedication to innovation – making it a leader in the commercial healthcare IT industry. Focusing on providing users with the most validated and personalized healthcare information delivered to any device, the company’s program with IBM Watson is the first of its kind to merge artificial intelligence and deep learning with precision medicine, applicable to both consumers and providers.

Based in San Diego, the company’s CLIA and CAP accredited clinical laboratory provides physicians and their patients in more than 40 different countries with actionable and accurate precision healthcare information to improve, or maintain,health and wellness. Pathway Genomics’ testing services cover a variety of conditions including cancer risk, cardiac health, inherited diseases, nutrition and exercise response, as well as drug response for specific medications including those used in pain management and mental health. For more about Pathway Genomics, visit


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