Ambry Genetics Presents Research on the Importance of Reclassifying Disease-Causing Genes at the National Society of Genetic Counselors (NSGC) Annual Meeting

November 13, 2018

FOR IMMEDIATE RELEASE

Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

(Aliso Viejo, CA) November 13, 2018: Researchers from Ambry Genetics (Ambry), a leading clinical genetics testing lab, will present new scientific evidence on gene-disease relationships and how it supports medical management decisions at the National Society of Genetic Counselors (NSGC) Annual Meeting to be held in Atlanta, November 14-17.

Ambry has been selected by NSGC to lead a platform presentation entitled, “In a Class all by Itself: The Importance of Reclassifying Genes and Variants to Better Guide Patient Care (Powis, Z. et al) on Friday, November 16 at 11:15AM.  In this session, Ambry will present the value of their ‘patient for life’ program and how exome reanalysis can find more answers for patients.

“Exome sequencing is a powerful tool for identifying inherited conditions at the pace of modern personalized medicine,” stated Brigette Tippin Davis, Ph.D., FACMG, Sr. Vice President, Research & Development, Ambry Genetics. “Our findings show that proactive reanalysis that keeps pace with the continuum of new gene discovery and variant interpretation can improve diagnosis and bring clarity to patients, ultimately improving their care.”

Additionally, Ambry will be sponsoring a session entitled “Maximizing Genetic Testing Results for Hereditary Cancer Using RNA Studies.” This CEU eligible event will be held on Thursday, November 15 at 12PM.

Ambry will also be presenting 6 poster abstracts focused on delivering insights on various hereditary conditions and in particular the benefit of using multi-gene panels to better identify individuals at-risk. Poster presentations also include interesting new findings on genes related to several syndromes including Li Fraumeni, Von Hippel-Lindau and Marfan.

Ambry’s Presentations Schedule:

Wednesday, November 14

• Poster #A-106: Beyond FBN1: Multigene Panel Testing for Marfan Syndrome (Powis, Z. et al) 5:45PM -7:00PM
• Poster #A-76: When do Clinicians Cast a Wider Net? Utilization of the Largest Comprehensive Cancer Panel at One Commercial Laboratory (Paudyal T, et al) 5:45PM -7:00PM
• Poster# A-52: Genetic Testing Alters Care for Von Hippel-Lindau Syndrome Phenocopy (Depas M, et al) External Collaboration with Froedtert & The Medical College of Wisconsin; Ambry Author: Carrie Horton, 5:45PM -7:00PM

• Poster# A-337: CSNK2B Phenotypes Include Infantile Epilepsy with Myoclonic Seizures (Ernst, M et al) CSKN2B Working Group; External Collaboration with Columbia University. Ambry Author: Zoe Powis, 5:45PM -7:00PM

Thursday, November 15

• Poster# B-50: Double take! Mosaic Li Fraumeni syndrome (LFS) in Monozygotic Twins (Costello V, et al) 6:00PM- 7:15PM
• Poster# B-44:  Characteristics of patients with a primary brain tumor undergoing panel genetic testing (Azam S, et al) External Collaboration with University of Texas, 6:00PM- 7:15PM
• Presentation# B10: Maximizing Genetic Testing Results for Hereditary Cancer Using RNA Studies, Building A; Level 4, Room A411, 12PM

Friday, November 16

• Presentation #C09  In a Class all by Itself: The Importance of Reclassifying Genes and Variants to Better Guide Patient Care (Powis, Z. et al) Room C111, 11:15AM

For more information on Ambry’s presentations at NSGC, please visit: https://www.ambrygen.com/nsgc-2018

About NSGC

The National Society of Genetic Counselors (NSGC) promotes the professional interests of genetic counselors and provides a network for professional communications. Access to continuing education opportunities, professional resources, advocacy and the discussion of all issues relevant to human genetics and the genetic counseling profession are an integral part of belonging to the NSGC. The National Society of Genetic Counselors advances the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services.