[June 06, 2017]

Ambry Launches Innovative Tumor/Germline Testing to Help Clinicians Guide Patient Treatment

Ambry Genetics (Ambry), a leading clinical genetics-testing lab, is launching two game-changing paired (simultaneous germline and somatic) genetic tests, TumorNext-HRD and TumorNext-Lynch that offer clinicians a more complete picture of a patient's genomic profile, opening the door to possible life-giving treatments.

Clinicians need a reliable method to guide screening and make treatment decisions and that sometimes requires analyzing both tumor and normal tissue to look for both inherited and acquired genetic mutations. This kind of testing can diagnose hereditary cancer, while also providing guidance regarding drug eligibility and response. By providing this information simultaneously, a clinician can get a more comprehensive analysis of a patient's cancer faster.

Some patients with epithelial ovarian, fallopian tube, or primary peritoneal cancer do not respond well to the initial chemotherapy drugs. In these cases, PARP inhibitors can offer hope to these individuals by shutting down a mechanism in the body, which causes the cancer to flourish. Traditionally, clinicians had to order two tests: germline (inherited) and somatic (tumor) testing in order to get a clearer understanding of a patient's eligibility for PARP inhibitors. The painstaking process of procuring two reports and receiving two bills is an inefficient and a costly way to determine which patients may benefit from necessary life-giving treatment or make recommendations. Ambry's new test, TumorNext-HRD, is the first test to provide simultaneous genomic information regarding both somatic and hereditary cancer and most importantly, confirm eligibility for targeted treatment options.

Lynch syndrome is an inherited condition that puts an individual at a higher risk for various cancers, specifically colorectal and endometrial cancer. By clarifying a diagnosis of Lynch syndrome, a clinician can make recommendations for a patient or their family members regarding increased cancer risks and the need for additional cancer screening. Ambry's TumorNext-Lynch allows clinicians to test at-risk patients for Lynch syndrome by providing both tumor and germline results in one test. This minimizes the possibility of unexplained abnormal tumor screning results, and gives clinicians more precise information to make clear management recommendations based on mismatch repair deficiency status for their patients, including use of PD-L1/PD-1 immunotherapies.

In preparation for launch, Ambry invited a few key collaborators to be a part of the initial beta program. The response was overwhelmingly positive, with clinicians expressing their excitement to bring this level of precision diagnostic testing to their patients.

"We love this test," said Michael Hall, MD, MS, Director, Department of Clinical Genetics with Fox Chase Cancer Center. "We've particularly enjoyed the ability to provide the patient with comprehensive assessment rather than a piecemeal evaluation, which can be exhausting and confusing for them."

Andrea Forman, MS, LCGC, Senior Genetic Counselor, Risk Assessment Program, Department of Clinical Genetics added: "TumorNext-Lynch has made explaining abnormal MSI (News - Alert)/IHC results so much easier. There are sometimes several steps involved (hypermethylation, germline testing, somatic tumor testing) that could be costly and time consuming. Being able to coordinate all of those steps in one place has made this process seamless."

Clarifying the cause of mismatch repair deficiency allows patients to receive appropriate treatment and risk reduction. "With more widespread use of universal mismatch repair deficiency tumor testing in individuals with colorectal and endometrial cancer, we've been able to greatly increase our detection of previously unidentified Lynch syndrome families," commented Matthew B. Yurgelun, MD, Assistant Professor of Medicine, Harvard Medical School and Dana-Farber Cancer Institute. "Unfortunately, a higher fraction of patients than we would have previously anticipated are now left with the nebulous diagnosis of 'suspected Lynch syndrome,' based on their tumor having unexplained mismatch repair deficiency without a germline mutation or suggestive family history. It's great that we can now offer patients with mismatch repair deficient tumors testing that will both give comprehensive germline analysis while also mitigating the possibility of them being left with the often unhelpful label of 'suspected Lynch syndrome,' based on unexplained tumor testing."

Ambry's tumor testing launches in June and serves as another first for the company when it comes to innovative genetic testing products. In 1999, Ambry was the first to start full gene sequencing patients with Cystic Fibrosis. In 2010, Ambry launched the first commercial Next-generation sequencing (NGS) test. In 2011, Ambry became the first to provide CLIA-approved exome services for applications in clinical diagnostics. In 2012, Ambry achieved another first with its hereditary cancer panels. In 2016, Ambry built a customized 65,000 square-foot, highly automated CLIA/ CAP certified lab, to ensure fast turnaround times while maintaining best-in-class accuracy and specificity. Through them all, Ambry has remained focused on their mission to understand disease better through quality testing.

"We developed this test as a response to an unmet need in the medical community," says Ambry's Director of Emerging Genetic Medicine, Brigette Davis, PhD., FACMG. "We are very excited to bring this innovation to the market and offer hope to those patients. Our test offers actionable data so clinicians can personalize patient management and therapies."

About Ambry:

Since 1999, Ambry's mission has remained focused on understanding disease so cures can come faster. Today, Ambry remains unwavering in its commitment to being tough, innovative, committed to quality and, most of all, focused to do what is right for patient care. For more information on Ambry's full suite of genetic testing, visit http://www.ambrygen.com.

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