Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656
Data presented at the 2019 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting
(Aliso Viejo, CA) April 2, 2019: Researchers from Ambry Genetics (Ambry), a leading clinical genetics testing company, will present results demonstrating that RNA genetic testing (RGT), as a supplement to DNA genetic testing, improves variant classification in hereditary cancer genetic testing. This study, awarded as a Top Rated poster, is one of 13 presentations at the 2019 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting being held in Seattle, April 2-6.
“Our study goal was to determine if supplemental RNA testing could help overcome a limitation of DNA testing, that being the high number of genetic variants that are reported as “uncertain” because they cannot be clearly interpreted,” stated Rachid Karam, MD, PhD, Director of Ambry’s Translational Genetics Lab. “Our results tell us that it can.”
Study findings indicate that RGT will impact medical management in at least 1 in 50 patients who have first undergone DNA genetic testing. Per Dr. Karam, “The reclassification of uncertain genetic variants to either disease-causing or benign, using RNA evidence, will enable the more precise application of risk-reducing surgeries and pre-symptomatic screening measures, because those applications will be based on a patient’s more detailed and deeply understood genetic profile.”
In addition to the poster presentation, Dr. Karam will lead a sponsored presentation entitled “RNA Genetic Testing Improves Variant Classification and Patient Management.” This event will be held on Thursday, April 4 at 10:30 AM in Exhibit Theater 1.
Ambry Genetics’ Presentation Schedule includes one platform presentation, one theater presentation and 11 poster presentations, two of which are Top Rated
For more information on Ambry’s presentations at ACMG, please visit: ambrygen.com/ACMG2019
Ambry Genetics is a leader in clinical diagnostic and software solutions, combining both to offer comprehensive and high-quality genetic testing. As part of the Konica Minolta family, Ambry Genetics is responsibly applying new technologies to the molecular diagnostics market to bring about precision medicine. With over 20 years of experience, Ambry Genetics has longstanding expertise in clinical genetic testing. For more information about Ambry Genetics, visit ambrygen.com.
Press Contact:
Jackie Copp
press@ambrygen.com
480-606-8180
Ambry Genetics translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate, and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.
Contacts
For Ambry Genetics
gwen@gwengordonpr.com