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

Thursday, November 15, 2018 Genetics & Stem Cells News
Email Print This Page Comment bookmark
Font : A-A+

Presentation demonstrates how reclassifying genes and variants may improve medical management

ALISO VIEJO, Calif., Nov. 14, 2018 /PRNewswire-PRWeb/ -- 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: Ambrygen.com/NSGC

About Ambry Ambry Genetics is a leader in clinical diagnostic and software solutions, combining both to offer comprehensive genetic testing. As part of the Konica Minolta family, Ambry is applying new technologies to the clinical molecular diagnostics market to advance precision medicine and improve patient care. For more information about Ambry Genetics, please visit http://www.ambrygen.com.

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.

Press Contact: Dina Scaglione Director, Marketing dscaglione@ambrygen.com 949.457.4355

 

SOURCE Ambry Genetics



Post your Comments

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.
* Your comment can be maximum of 2500 characters
I agree to the terms and conditions

News A - Z

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

News Search

Medindia Newsletters

Subscribe to our Free Newsletters!

Terms & Conditions and Privacy Policy.

Find a Doctor

Press Release Category

Press Release Archive

Stay Connected

  • Available on the Android Market
  • Available on the App Store