Ambry Genetics to Present at 2021 ACMG Annual Clinical Genetics Meeting

April 13, 2021


Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

Study shows strong data for finding whether certain genetic variants in the BRCA2 cancer gene may be classified as disease-causing

(Aliso Viejo, CA) April 13, 2021: Ambry Genetics Corporation (Ambry), a Konica Minolta Precision Medicine (KMPM) company and a leader in clinical diagnostic testing, announced it will be presenting The Uniform Application of Protein Functional Data has an Impressive Potential to Resolve VUS Rates in BRCA2 based on a study published in The American Journal of Human Genetics in collaboration with researchers at the Mayo Clinic, Moffit Cancer, and the University of Utah. Ambry will present an overview of findings at the 2021 ACMG Annual Clinical Genetics Meeting.

Marcy Richardson, Supervisor, Variant Assessment at Ambry and first author, in collaboration with Dr. Fergus Couch, published the study on functional data to classify BRCA2 variants. The study will be presented, along with several significant firsts. It is the first report of a validated BRCA2 functional study highlighting classification power using ACMG style rules. It is also one of the largest collections of functional data for BRCA2 missense variants. 

Ambry is proud to continue our legacy of investing in translational research that enhances patient care. Multimodal genomic and functional approaches to variant assessment are essential to unlocking precision medicine,” commented Brigette Tippin Davis, Chief Scientific Officer of Ambry Genetics.

"This study highlights the huge potential of integrating protein functional data into variant classification," said Rachid Karam, Director of Research and Development with Ambry. "By classifying the largest cohort of clinically actionable BRCA2 missense variants yet, we collectively impacted thousands of patients who carry these disease-causing germline variants.”

According to Richardson, "The implementation of recent SVI guidelines can be applied towards weighting functional studies and serves as a founding example of the power it can have for evaluating rare variants. This will become increasingly important as more high throughput studies, including MAVE data, become publicly available."

The industry platform presentation will take place on Friday, Apr 16, 12:30 pm EST.

In addition to this published study overview, Ambry will profile several other research studies at the conference on a broad range of topics. Please check the ACMG schedule for sessions and times.

About Ambry Genetics ®

Ambry Genetics, a subsidiary of REALM IDx, Inc., 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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