Ambry Presents Scientific Discovery to Enhance Clinical Practice at American Society for Human Genetics Annual Meeting (ASHG)


Ambry Genetics
15 Argonaut
Aliso Viejo, CA 92656

(October 16, 2017) Aliso Viejo, CA and Orlando, FL: Ambry Genetics Corporation (Ambry), a leading genetic testing lab, will be participating at the American Society of Human Genetics Annual Meeting (ASHG). Ambry’s 16 posters and 6 oral presentations cover the entire spectrum of research including many of the challenges currently facing the genetics community.

One of the main challenges for genetic testing labs is determining which reported mutations can be translated into meaningful data to accurately guide clinicians providing patient care. By expanding our understanding of variant classification and the clinical validity of gene mutations, Ambry is bringing an advanced level of precision to genetic testing beyond what is currently offered in the industry.

“We look forward to speaking at ASHG and meeting with the conference’s attendees. We are proud of our product offerings and scientific rigor, which goes above and beyond what is currently being offered. At the end of the day, it is the patient searching for answers who benefits the most from our quality and innovation,” said Dr. Aaron Elliott, Ambry’s CEO.

Ambry’s six oral presentations address a range of topics such as intellectual disability, ovarian cancer and variant interpretation as a part of its commitment to offer quality and innovation for clinicians to provide improved patient care.

Rachid Karam, MD, PhD, Associate Director of Ambry’s Translational Genomics (ATG) Lab, will provide insight into Ambry’s functional  studies program in a session entitled “Beyond DNA: How Functional Assays Enable Precision Diagnosis”, on Thursday, October 19th from 7:15-8:45am at the Hyatt Regency in meeting rooms Celebration 1 and 2 on the Convention Level. 

The presentation demonstrates how cutting-edge DNA, RNA, and protein technologies are revolutionizing the interpretation of genomic tests. The ATG Lab was borne out of the need to give clinicians a better understanding of their patient’s test results for future medical management. In this session, Dr. Karam will discuss how these studies produced improved identification of clinically actionable genetic alterations, thereby enabling precision medicine.

“To understand genetic diseases such as cancer, we need to look at patients’ genomic results through many angles: DNA, RNA, protein - these are all important pieces of the puzzle,” says Dr. Karam. “The ATG Lab puts all pieces of the puzzle together, so we can provide clinicians with a better understanding of how genetic alterations may impact their patients’ lives, and their clinical management. This is the future of personalized diagnosis.”

ASHG attendees can learn more about Ambry’s newly announced grant program, ResearchNextTM. Through ResearchNext, Ambry will fund select projects that have the potential to advance our ability to identify and manage genetic risk.

To view Ambry’s full schedule for ASHG, and to read abstracts of all the research being presented, visit

About Ambry Genetics ®

Ambry Genetics is a leader in clinical diagnostic and software solutions, combining both to offer the most comprehensive genetic testing menu in the industry. Ambry is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. As part of the Konica Minolta family, Ambry is responsibly applying new technologies to the clinical molecular diagnostics market to bring about precision medicine. For more information about Ambry Genetics, visit

Press Contact:
Dina Scaglione
Director, Marketing
949 457 4355

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