Ambry Genetics Celebrates Translational Research at ACMG 2017 Presents 13 Abstracts and Plans to Launch a Personalized Genomic Test


Ambry Genetics
15 Argonaut
Aliso Viejo, CA 92656

ALISO VIEJO, CALIF., March 20th, 2017—Ambry Genetics (Ambry), whose mission is to put patients and genetics above all else, will present important new research at the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona. Ambry ‘s new scientific research may significantly impact clinical practices and guidelines in the form of 3 platform presentations and 10 posters, focusing on VUS translation and exome research, several clinical breakthroughs, and plans to offer personalized genomic testing to healthy individuals.

One presentation, “RNA Studies Improves the Classification of Splicing Variants,” will feature the Associate Director of Ambry’s Translation Genomics Lab (ATG), Rachid Karam, PhD, who will discuss the impact of improved classifications of splicing variants.

“We are being proactive as a lab in the quest to understand variants of unknown significance and create our own data to do so,” said Dr. Karam. “It is exciting to think of all the patients we are helping by improving the assessment of splicing variants. Without RNA studies, these patients would not know whether their alterations are pathogenic or not.”

The presentation provides a summary of the RNA Studies on all patient alterations tested at the ATG lab to date. Our data demonstrates that RNA studies significantly improve mutation identification rates, and most importantly, significantly reduce the rate at which pathogenic mutations go undetected. Outside of educational institutions, Ambry is the only commercial operation that has a dedicated lab for conducting functional studies for variants of unknown significance (VUS) for eligible variants identified through routine testing at Ambry. Ambry will also be featuring a study published in Genetics in Medicine last week “Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar” in collaboration with GeneDx, Partners, and University of Chicago to examine variant data submitted to ClinVar, a public archive of relationships among genomic variation and human disease. The paper shows that labs agree on variant classification 88.3% of the time, but after combining research data from the labs, that number rose to 91.7%. This supports Ambry’s ethos that data sharing is in the best interest of both patients and clinicians.

Also to be announced at ACMG are Ambry’s plans to expand its exome testing by offering personalized genomic testing for healthy individuals through health care professionals.

Ambry’s extensive experience with whole exome sequencing has allowed the company to develop a standardized method for evaluating gene-disease relationships1, giving it diagnostic accuracy and consistency unmatched in the industry. Ambry will apply this experience to a test for healthy individuals that will be informative and medically actionable. Ambry is promising to work with the genetics community to develop this test; those interested in providing feedback are encouraged to visit booth 801 to learn how they can get involved.

“We are excited to collaborate with the genetics community to ensure our test is responsible and medically accurate. Their feedback will inform how we can best bring this type of genetic testing to the market,” says Ambry Clinical Genomics Product Manager, Layla Shahmirzadi, MS, CGC.

Ambry will also be celebrating the one year anniversary of the launch of AmbryShare, Ambry’s data sharing initiative that hopes to create a world where all human disease is understood by offering free, anonymized aggregate exome data from more than 11,400 patients. Since the inception of AmbryShare, Ambry’s commitment to sharing data and research have paved the way for the identification of new causes of well understood diseases and other discoveries.

Find out more information about Ambry’s genetic testing updates and featured research, click here.

1. Smith ED, et al. Classification of genes: Standardized clinical validity assessment of gene-disease associations aids diagnostic exome analysis and reclassifications. Hum Mutat 2017 Jan 20. [Epub ahead of print]

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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