Ambry Genetics Publishes 43,000 Patient Study Showing Combined RNA and DNA Analysis Identifies Patients Who Are High-Risk for Cancer but Would Have Been Missed by DNA Testing Alone

August 29, 2022


Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

  • The largest RNA study ever conducted in hereditary cancer analyzed more than 43,000 patients who received Ambry’s +RNAinsight™ testing and found that 1 in 950 had an elusive clinically actionable result that would have been missed by DNA-only testing.
  • Combined DNA and RNA testing identified cancer risk in an additional 1 out of 79 patients compared to DNA-only testing.

ALISO VIEJO, Calif. – August 29, 2022 – Ambry Genetics, a leader in clinical diagnostic testing and a subsidiary of REALM IDx, Inc., announced today the findings of a study that showed paired RNA and DNA genetic testing, conducted at the same time, detected elusive pathogenic variants in 1 of every 950 patients that were missed by DNA testing alone. The findings, published in npj Genomic Medicine, highlight the importance of combining RNA and DNA analysis in hereditary cancer testing to give clinicians and their patients the most accurate and comprehensive genetic data needed to inform patient care and achieve the best outcomes.

According to the National Library of Medicine, as of August 2017, there were approximately 75,000 genetic tests on the market, representing 10,000 unique test types. Unfortunately, many of these DNA-only tests exclude large portions of DNA such as introns, a sequence of DNA that is spliced out before an RNA molecule is translated into a protein. In addition to omitting large portions of introns, DNA-only testing lacks the functional context to determine whether a variant increases cancer risk, which can lead to inconclusive results. These limitations may prevent patients and their families from getting accurate results to inform their preventative or therapeutic care.

Concurrent RNA and DNA testing helps identify more patients at risk by determining if an uncertain result from DNA testing is normal or disease-causing, and expands the range of genetic testing to identify mutations that DNA-only testing misses.

“With our +RNAinsight test we were the first company to offer upfront paired DNA and RNA sequencing to give clinicians and their patients the most accurate and comprehensive information about their cancer risk,” said Tom Schoenherr, CEO, Ambry Genetics. “This study confirms that conducting RNA and DNA testing together is critical to help identify high-risk individuals who would have been missed by DNA-only testing.”

Previously, published evidence of the value of RNA sequencing has been limited by studies with small sample sizes and enriched cohorts. This study by Ambry is the largest to examine the impact of paired DNA and RNA analysis in hereditary cancer testing. In the study, tests from 43,524 patients who underwent paired DNA-RNA genetic testing using Ambry's +RNAinsight from March 2019 through April 2020 were examined to determine if the paired sequencing detected more pathogenic variants than DNA testing alone. The analysis identified patients who had disease-causing alterations that DNA testing alone would have misinterpreted. Examining the RNA data resolved variant findings in 549 patients (1 in 79 patients) by providing the required functional data for more accurate interpretation of splicing variants. In addition, the analysis showed that 1 of every 950 patients had a pathogenic deep intronic variant that would not have appeared in DNA testing alone.

The results from the study may underestimate the total clinical impact because some of the patients' families who are now eligible for genetic testing were not tested. In addition, the ripple effect created by these updated results extends to past and future patients. These downstream benefits were not quantified in the current study.

“This is the largest study of its kind to show the importance of RNA testing in predicting cancer risk,” said Carrie Horton, senior clinical research specialist for oncology and first author of the study. “It's clear that RNA analysis has the potential to become a standard practice for genetic testing to improve hereditary cancer care.”

A webinar, open to the media, genetic counselors, clinicians and other interested parties, will be conducted on Thursday, September 15 at 10 a.m. PT to review the study findings. Registration information is here.

Ambry's +RNAinsight was the first test to provide comprehensive gene coverage for RNA analysis to help classify and detect DNA variants associated with a variety of cancers including breast, ovarian, prostate, colon, pancreatic and uterine. +RNAinsight enables more accurate identification of patients with increased genetic risks for cancer, finds actionable results that may otherwise be missed and decreases the frequency of inconclusive results.

About Ambry Genetics ®

Ambry Genetics, a subsidiary of REALM IDx, Inc., 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.

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