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
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
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]
ABOUT AMBRY GENETICS®
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 www.ambrygen.com.
Corporate Communications Manager