Ambry Genetics Launches AmbryScore to Assist Health Care Providers in Determining Lifetime Breast Cancer Risk

06:00 EDT 14 Mar 2018 | PR Web

New precision genetics risk tool helps clinicians better predict breast cancer risk

ALISO VIEJO, Calif. (PRWEB) March 14, 2018

(Ambry Genetics Corporation (“Ambry”), a Konica Minolta company, leader in comprehensive genetic testing, announced today the launch of AmbryScore, a precision risk tool that provides lifetime breast cancer risk information to health care providers for eligible patients who pursue hereditary cancer testing.

AmbryScore is a new cancer risk prediction tool, ordered through an individual’s health care provider that can be added to select hereditary cancer panels at no additional cost. It combines genetic information from 100-breast cancer-associated single nucleotide polymorphisms (SNPs), in what is termed as a polygenic risk score, with clinical and family history information to calculate lifetime breast cancer risk.

Ambry is also leading a multi-site five-year clinical study to assess the impact of patient care when including AmbryScore with standard hereditary cancer testing for high-risk genes. Ambry is collaborating with NorthShore University HealthSystem as well as other institutions for continued development and validation of AmbryScore in additional cohorts.

“With this type of prediction tool, we are able to provide additional breast cancer risk information, which is needed to further the understanding of the clinical impact of this data,” stated Katharine Yao, MD, breast surgeon and Chief of Surgical Oncology at NorthShore University HealthSystem, a principal investigator in this clinical study. “This tool, combined with our continued research aimed at advancing genetic risk assessment and precision medicine as a whole, is a vital step in advancing our understanding of hereditary breast cancer that could ultimately prevent disease.”

“AmbryScore allows us to provide individualized risk information to health care providers for the many women who test negative for a mutation in a breast cancer susceptibility gene yet still face an increased risk to develop breast cancer, based on additional factors,” stated Brigette Tippin Davis, Ph.D., Vice President, Research and Development at Ambry. “Additionally, women who opt into AmbryScore will contribute to important longitudinal data to support the use of polygenic risk assessment in identifying more individuals who may benefit from increased screening and early detection.”

Due to the population-specific nature of SNPs and its association of disease, a patient must meet the following criteria to be eligible for testing: non-Ashkenazi Jewish, Caucasian female between the ages of 18-84, with no personal history of cancer (excluding non-melanoma skin cancer), atypical hyperplasia, LCIS, and no personal or family history of a mutation in a known breast cancer susceptibility gene. For more detailed information about AmbryScore, visit     

About Ambry
Ambry is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. Ambry is an established leader in clinical genetic diagnostics and genetics software solutions, combining both to offer the most comprehensive testing menu in the industry. Ambry has established a reputation for sharing data while safeguarding patient privacy, unparalleled service, and responsibly applying new technologies to the clinical molecular diagnostics market. For more information about Ambry, visit

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