Ambry Genetics to Present Seven Abstracts at Upcoming  ACMG Annual Clinical Genetics Meeting

March 02, 2016

FOR IMMEDIATE RELEASE

Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

Ambry Genetics to Present Seven Abstracts at Upcoming
ACMG Annual Clinical Genetics Meeting

Presentations include two oral abstracts examining new genetic causes for neurodevelopmental disorders

Ambry representative also to moderate scientific session on the
clinical importance of genetic variants

Aliso Viejo, CA – March 2, 2016 – Ambry Genetics (Ambry), a leader in clinical genetic diagnostics and genetics software solutions, announced today that seven abstracts from the company’s scientific internal and external collaborative research will be presented at the 2016 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting taking place March 8-12 in Tampa, FL. The research is part of Ambry’s dedication to open scientific exchange for providing new genetic insights to better understand human diseases.

“We look forward to sharing these seven abstracts with the genetics community. They represent our continuing commitment to working with researchers collaboratively to expand our collective knowledge of gene mutations underlying many diseases,” said Aaron Elliott, Ph.D., Chief Operating Officer and Interim Chief Scientific Officer, Ambry Genetics. “The breadth of data being presented at the meeting showcases our latest contributions to genetic research in both oncology and neurology, a therapeutic area where much advancement is being made.”

Ambry’s abstracts can be accessed through the ACMG conference website, www.acmgmeeting.net. The data will remain under strict embargo until the date and time of presentation (details below).

In addition to the abstract presentations, Ambry’s Jill Dolinsky, RN, MS, CGC, Senior Manager of Clinical Research, will co-moderate a Scientific Concurrent Session, “Rising to the Level of Clinical Importance: Challenges to Adjudicating and Reporting Variants Discovered with Genomic Analysis” (March 12 at 8:00 am in Ballroom AB).  During the session, genetic experts will discuss the complexities of analyzing the high volume of gene variants that arise from large-scale genomic analysis, especially variants in genes with no known disease link.

“The session at ACMG will be a dynamic discussion exploring how to clearly and accurately report and interpret complex genetic variants,” Dolinsky said.  “As a leader in diagnostic exome sequencing, Ambry Genetics excels in providing clinically meaningful interpretation of complex genetic test results.  As of 2015, we have shared nearly 10,000 variants into the public database, ClinVar, including results from exome sequencing, in support of the global research community’s efforts to find new genetic markers.”

As well, Erica Smith, PhD, Clinical Genomics Scientist and Layla Shahmirzadi, MS, CGC, Clinical Genomics Product Manager, will give a Theater Presentation, “The Value of Comprehensive Clinical Validity Assessment for Gene Classification in Diagnostic Exome Sequencing” (March 10 at 12:15 pm in the Central Exhibit Hall, Theater 2).  This session will share processes used in Ambry’s exome sequencing to strengthen its clinical diagnostics reporting, featuring case examples that illustrate clinical utility, gene reclassification, and other key issues in the field.

Ambry’s abstracts being presented, in numerical order, include the following:

De novo Mutations of KIAA2022 in Females Cause Epileptic Encephalopathy, K. Helbig, MS, Ambry Genetics
Abstract #43
Date: Friday, March 11, 2016
Oral Presentation: 4 :45pm – 5:00pm ET
Location: Tampa Convention Center
Room: Central Exhibit Hall

Clinical Diagnostic Exome Sequencing Identified Compound Heterozygous ASPM Gene Alterations in a Fetus with Marked Microcephaly, C. Alamillo, MS, CGC, Ambry Genetics
Abstract # 44
Date: Friday, March 11, 2016
Oral Presentation: 5:00pm – 5:15pm ET
Location: Tampa Convention Center
Room: Central Exhibit Hall

Clinical Utility of Diagnostic Exome Sequencing in Hereditary Cancer, Z. Powis, MS, CGC, Ambry Genetics 
(Top Rated) Abstract # 96
Date: Friday, March 11, 2016
Poster Presentation: 10:30am – 12:00pm ET
Location: Tampa Convention Center
Room: Exhibit/Poster Hall

Increasing Uptake of Hereditary Cancer Multi-Gene Panel Testing: Overcoming Initial Barriers, K. Fulk, MS, CGC, Ambry Genetics 
Abstract # 102
Date: Friday, March 11, 2016
Poster Presentation: 10:30am – 12:00pm ET
Location: Tampa Convention Center
Room: Exhibit/Poster Hall

Clinical Laboratories Implement the ACMG/AMP Guidelines to Resolve Differences in Variant Interpretations Submitted to ClinVar, S. Harrison, PhD, Harvard Medical School, Partners HealthCare Laboratory for Molecular Medicine 
(Top Rated) Abstract # 189
Date: Thursday, March 10, 2016
Poster Presentation: 10:30am – 12:00pm ET
Location: Tampa Convention Center
Room: Exhibit/Poster Hall

Family Matters: How Segregation Studies Reclassify Variants in Thoracic Aortic Aneurysm and Dissection Multigene Panels, I. Lu, MS, CGC, Ambry Genetics 
Abstract # 243
Date: Thursday, March 10, 2016
Poster Presentation: 10:30am – 12:00pm ET
Location: Tampa Convention Center
Room: Exhibit/Poster Hall

Landscape of Variants of Unknown Significance in FBN1 Identified in Patients with TAAD and Marfan Syndrome, L. Qin, Ph.D, CGMBS, MB, Ambry Genetics 
Abstract # 536
Date: Friday, March 11, 2016
Poster Presentation: 10:30am – 12:00pm ET
Location: Tampa Convention Center
Room: Exhibit/Poster Hall