Assay Detects Tumor-Specific Gene Amplifications in ctDNA

An assay for clinical use detects amplifications in DNA shed from tumors into the circulation.

Personal Genome Diagnostics Inc. (PGDx; Baltimore, MD, USA) introduced its METDetect Assay for the detection of MET gene amplifications in the circulation of cancer patients. The assay utilizes the company’s PARE technology to uniquely identify structural alterations in the MET gene in circulating tumor DNA (ctDNA) directly from the patient’s plasma, thereby eliminating the need for invasive and costly tumor biopsies.

The METDetect test uses next generation sequencing (NGS) and PGDx’s proprietary high sensitivity PARE and other technologies to identify focal amplifications of the MET gene that can help prediction of therapeutic response, overall prognosis and cancer recurrence, and for ongoing monitoring. Analyses take two to three weeks. They are performed in PGDx’s clinical laboratory improvement amendments (CLIA) laboratory certified for high complexity clinical testing. A comprehensive report includes identification and schematic representation of tumor-specific MET amplifications, annotation of predicted mutation consequences, data summary statistics and integrated analysis reporting. The assay is immediately available for clinical and investigative use.

PGDx’s proprietary PARE technology enables whole genome identification of changes in tumor-specific ctDNA. Unlike other approaches, which can primarily detect point mutations in ctDNA, PARE can also detect structural changes, including the genomic amplifications and rearrangements that are critical for guiding cancer treatment. PARE was invented in the laboratories of PGDx co-founders Dr. Victor Velculescu and Dr. Luis Diaz at Johns Hopkins University (Baltimore, MD, USA) and PGDx has licensed exclusive rights to the PARE technology from Johns Hopkins.

Amplifications and other structural changes of the MET cancer gene have been associated with resistance to therapy and as major oncogenic drivers in a variety of tumors, including colorectal, lung, gastric, brain, and head and neck cancer. Antony Newton, CCO of PGDx, commented, “[……] We believe this test will facilitate initial assessments of patient tumor status as well as retesting for the presence of treatment-induced genomic changes in the MET gene, since no tumor biopsy material is needed. Amplifications of the MET gene have been implicated as cancer drivers in a number of important cancers, and we are proud to offer this breakthrough test to cancer researchers, patients and their physicians.”

PGDx reported that its proprietary PARE and other related genomic technologies were used in a study published in the February 2014 issue of the journal Science Translational Medicine. The study assessed the utility of plasma-based cell-free circulating tumor DNA for cancer detection and monitoring, and compared it to DNA analyses based on tumor biopsies. The authors concluded that ctDNA is a broadly applicable, sensitive and specific biomarker that can be used for a variety of clinical and research purposes in patients with different types of cancer.

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Personal Genome Diagnostics Inc.
Johns Hopkins University