Ambry Genetics Research Demonstrates RNA Genetic Testing in Hereditary Cancer Improves Variant Classification and Patient Management

April 02, 2019


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

Wednesday, April 3, 12:15 PM-1:15 PM

  • Oral Platform Presentation #659 Radtke K, et al., Three-quarters of Upgraded Negative Reports Due to Reclassification are Due to Lab-initiated Proactive Reanalysis (1:00 PM-1:15 PM)

Thursday, April 4, 10:00 AM-11:30 AM

  • Poster #167, Karam R, et al. (Top Rated with Rapid Fire Session): RNA Genetic Testing in Hereditary Cancer Improves Variant Classification and Patient Management
  • Poster #181, Ritter DI, et al., VHL Information Sharing International Consortium (VISION): A ClinGen Expert Panel to Evaluate VHL Gene-Specific Criteria for Variant Interpretation
  • Poster #185, Horton C, et al., Join the paraGANGlioma - More support for FH in hereditary PGL-PCC
  • Poster #289, Niguidula N, et al., Discrepancies in Payer Coverage and Practice Guidelines for Genetic Testing of ACMG Cardiovascular Genes
  • Poster #305, Ernst M, et al., CSNK2B: A Novel Cause of Neurodevelopmental Disease and Epilepsy
  • Poster #339, Powis Z, et al., Clinical Diagnostic Exome Sequencing in Patients with Neuromuscular Disorders: Genetic Testing Challenges for Complex Conditions
  • Poster #715, Schultz C, et al., Has Anything Changed? Reclassification of Epilepsy Genetic Variants
  • Poster #719, Towne M, et al., “N of One” Is the Loneliest Number: How a Lack of Corroborating Case Reports is Hindering the Classification of Genes

Thursday, April 4, 10:30 AM-11:00 AM, Exhibit Theater 1

  • Karam, R, RNA Genetic Testing Improves Variant Classification and Patient Management

Friday, April 5, 10:30 AM-12:00 PM

  • Poster #422, Saliganan S, et al., An Analysis of Clinical Documentation Submitted with Diagnostic Exome Sequencing Orders and the Added Burden or Benefit of Insurance Billing
  • Poster #614, Black MH, et al., (Top Rated with Rapid Fire Session): Lifetime Risk of Breast Cancer from Polygenic Risk Scores Combined with Clinical Assessment in Women Referred for Genetic Testing
  • Poster #692, Huang J, et al., By the Way: The Incidental Benefit of Exome Sequencing to Enable Life-Saving Intervention via Secondary Findings

For more information on Ambry’s presentations at ACMG, please visit:

About Ambry Genetics

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

Press Contact:
Jackie Copp

About Ambry Genetics ®

Ambry Genetics, a Konica Minolta Company, excels at translating scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. Our unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means we are first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions. We care about what happens to real people, their families, and the people they love, and remain dedicated to providing them and their clinicians with deeper knowledge and fresh insights, so together they can make informed, potentially life-altering healthcare decisions. For more information, please visit

Press Contact:
Olivia Duarte
(949) 457-4335

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