Enhanced hereditary cancer portfolio updates tests to reflect the latest scientific evidence and national consensus guidelines
ALISO VIEJO, Calif.--(BUSINESS WIRE)--Ambry Genetics, a leader in clinical genetic and genomic testing, today announced enhancements to their portfolio of tests for the detection of genetic mutations associated with hereditary cancer. This new evidence-informed menu builds on the company’s 12-year history in hereditary cancer testing, to offer tests reflecting the latest scientific evidence and national consensus guidelines.
In the United States, an estimated 2 million patients will receive a cancer diagnosis this year.1 Cancer is second to heart disease as one of the leading causes of death, responsible for more than 600,000 U.S. deaths annually.2 Of these cancer cases, approximately 10 percent are caused by heritable genetic mutations.3 Cancer mortality often improves with early detection and targeted treatments, which may be informed by positive hereditary cancer test results. Proactive awareness of genetic risk also enables clinicians to tailor patients’ care for cancer risk reduction and prevention, making hereditary cancer testing a powerful tool for patients with cancer and their families.4
“With these updates to our oncology portfolio, Ambry Genetics is empowering clinicians to use the latest scientific evidence to understand patient cancer risk in more holistic ways,” said Elizabeth Chao, M.D., Chief Medical Officer at Ambry Genetics. “These panels are designed with the support of our team of leading experts in gene-disease associations. We curated these tests and this menu to deliver valuable information that will help clinicians find answers for their patients and personalize their care in ways that may be lifesaving.”
Changes to the portfolio include:
- Updated test panels informed by national consensus guidelines – CancerNext®, BRCANext®, and ColoNext® – include genes for which there are clear management guidelines to maximize clinical utility
- Additional genes and additional indications for more comprehensive genetic assessment
- Portfolio enhancements to improve flexibility and clinician ease-of-use, such as new add-on options for limited evidence genes.
Ambry Genetics will continue to offer +RNAinsight®, which leverages paired DNA and RNA sequencing, at no additional charge to patients. Internal Ambry data suggest that without concurrent DNA and RNA analysis, the genetic diagnosis for approximately 1 in 25 hereditary cancer patients would be missed. The use of RNA data helps to decrease the cases reporting a variant of uncertain significance by about 5%, reducing ambiguity for providers and for patients. +RNAinsight also helps address known evidence gaps in non-White populations, who have historically had less access to research and clinical genetic testing4. Ambry’s experience with and application of this technology benefits approximately 5% of their hereditary cancer patients4.
“For twenty-five years, Ambry Genetics has been at the forefront of genetic diagnostics, driving the field forward with one innovation after another. For more than a decade, we have set the standard in hereditary cancer testing – first to offer multigene panels for hereditary cancer, first to offer paired DNA and RNA analysis, and we’re not done,” said Tom Schoenherr, Chief Executive Officer at Ambry Genetics. “We remain committed to improving the health of patients with the highest quality genetic testing, ensuring that we are a dependable partner to the clinicians and patients who trust us with their care.”
Ambry will be featuring the enhancements to their hereditary cancer portfolio at the National Society of Genetic Counselors (NSGC) 2024 Annual Conference in New Orleans, Louisiana, from September 17 – 21. A symposium on “Designing and Selecting Effective Panels for Maximized Clinical Utility” will be held by Ambry during the conference.
Ambry Genetics performs all hereditary cancer tests in its CAP-accredited, CLIA-certified and New York State approved laboratory. For more information about the updated menu, please visit Ambry’s webpage.
ABOUT AMBRY GENETICS®
Ambry Genetics translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate, and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.
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1 “Cancer Statistics,” National Cancer Institute. Available: https://www.cancer.gov/about-cancer/understanding/statistics.
2 “Leading Causes of Death,” National Center for Health Statistics. Available: https://www.cdc.gov/nchs/fastats/leading-causes-of-death.htm
3 “The Genetics of Cancer,” National Cancer Institute. Available: https://www.cancer.gov/about-cancer/causes-prevention/genetics.
4 “Genetic Testing for Inherited Cancer,” National Cancer Institute. Available: https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet.
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