Presents 13 Abstracts and Plans to Launch a Personalized Genomic Test

ALISO VIEJO, Calif.--(BUSINESS WIRE)--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

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


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.

To 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]


Ambry Genetics is both College of American Pathologists (CAP)-accredited

and Clinical Laboratory Improvement Amendments (CLIA)-certified. Ambry

leads 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 Genetics, visit


Ambry Genetics

Aaron Schmidt

Corporate Communications Manager