AMBRY GENETICS

Company Overview

Founded in 1999, Ambry Genetics (a subsidiary of Konica Minolta since 2017) provides clinical genomics services for a variety of disease conditions. Genomics services include NGS, Sanger sequencing, sequence capture, microarray, genotyping, and analysis.

Ambry markets alternative BRCA1 and BRCA2 tests to Myriad Genetics. The company also markets genetic tests for other cancer types, disorders related to women’s health, cardiology, neurology, and melanoma.

Ambry provides cardiovascular NGS testing services, including 10 tests with panels covering rare inherited cardiomyopathies and arrhythmias. These tests meet a medical demand for tests that can confirm a diagnosis or identify at-risk individuals, as sudden death can be the first and only symptom of some of these disorders. These tests rely on NGS together with microarrays for deletion and duplication identification.

These tests include CardioNext (84 genes, comprehensive cardiovascular test); CMNext (comprehensive inherited cardiomyopathy test); HCMFirst and HCMNext (hypertrophic cardiomyopathy tests); and RhythmFirst and RhythmNext (inherited arrhythmia tests).

Ambry’s ExomeNext platform is designed to end the diagnostic odyssey that many undiagnosed patients undergo. The platform covers the entire genome and includes options for analyzing 500 to 20,000 genes, as well as the mitochondrial genome.

In June 2018, Ambry Genetics partnered with Akcea Therapeutics (an affiliate of Ionis Pharmaceuticals) covering genetic testing for hereditary ATTR Amyloidosis applications. Ambry agreed to test people for up to 80 genes that cause hereditary polyneuropathies and up to 85 genes correlated with hereditary cardiomyopathies, including hATTR amyloidosis. This alliance addressed a market need for early diagnosis of hATTR amyloidosis, which is a key step in getting adequate care.

In December 2019, Ambry Genetics partnered with Caris Life Sciences on cancer diagnostics. The companies agreed to combine Caris’ somatic and Ambry’s germline testing to provide clinicians with information on patient’s cancers. Caris began offering Ambry’s 67-gene CancerNext-Expanded panel together with its own somatic tumor tests.

In October 2019, Ambry Genetics added a new feature to its hereditary cancer risk testing menus, an RNA-Seq service. The company expects that this will reduce VUS (variants of unknown significance) results in hereditary cancer tests.

In December 2019, Ambry formed an alliance with the Mayo Clinic and NorthShore University Health System in which they will jointly develop a mutation prevalence tool to guide physicians on appropriate testing options. This tool can provide information about the prevalence of cancer risk mutations based on a patient’s demographics, thereby allowing better medical management.

In May 2020, Ambry Genetics and Volpara Solutions formed a strategic alliance covering breast cancer. The goal is to work together to identify high-risk breast cancer patients. The companies are collaborating to incorporate CARE (a program designed by Ambry to identify high-risk patients) with Volpara’s cancer screening platform.

In September 2020, Ambry Genetics partnered with Scipher Medicine to scale up a tumor necrosis factor inhibitor (TNFi) test. Ambry agreed to provide RNA sequencing for Scipher’s PrismRA blood test to predict response to TNF inhibitor therapies in rheumatoid arthritis patients.

Company's Business Segments

• Genetic Testing : The company provides genetic testing for hereditary cancer, cardiovascular disease, neurodevelopmental disorders, epilepsy, rare diseases, and exome.