New Data from Ambry Genetics Showed Concurrent RNA and DNA Testing Identified More Patients with Hereditary Breast Cancer than DNA Testing Alone

December 10, 2019


Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

Separate data demonstrated that finding mutations that increase risks for breast cancer frequently led clinicians to change their medical recommendations to patients.

(Aliso Viejo, CA) December 10, 2019: Researchers at Ambry Genetics (Ambry), a leading clinical genetic testing lab, will announce new data showing that conducting RNA and DNA tests for hereditary cancer risk at the same time identifies more patients with mutations that increase cancer risk than DNA testing alone. To be presented at the San Antonio Breast Cancer Symposium (SABCS) this week, the data come from a study of 746 patients with breast cancer that received +RNAinsight, paired RNA and DNA genetic testing for hereditary cancer risk.

Standard DNA testing for hereditary cancer risk excludes large portions of DNA, thereby missing some mutations. In addition, DNA testing can produce inconclusive results and fail to determine that an error in our DNA increases cancer risk. These limitations impact patients and their families because doctors may not have the information needed to recommend appropriate preventive, early detection, or therapeutic steps. Additionally, relatives may not be referred for genetic testing and obtain the care they would otherwise have gotten if they had learned they had mutations.

Adding RNA to DNA testing overcomes these limitations for a substantial number of patients as it provides considerably more evidence than DNA testing alone about whether our DNA has mutations.

The data showed that adding RNA genetic testing to DNA testing increased the diagnostic yield – the number of people found to have a mutation that increases cancer risk – across 16 hereditary breast and/or ovarian cancer genes. As a result of +RNAinsight, five breast cancer patients were identified to have mutations in clinically-actionable genes that would have otherwise been missed completely or the patient would have received inconclusive results if they had received DNA testing only. These findings included three women with mutations in BRCA1/2, one woman with a mutation in ATM, and one woman with a mutation in PMS2. Additionally, paired RNA and DNA genetic testing decreased the number of inconclusive results, giving patients more definitive answers about whether their breast cancers were hereditary. Additional results will be presented on an expanded breast cancer cohort at the meeting on Saturday, December 14th.

“These data further prove that paired RNA and DNA genetic testing for hereditary cancer should be the industry standard,” said Holly LaDuca, MS, CGC, senior manager of Ambry’s clinical affairs research. “Our research has consistently shown that +RNAinsight provides clinicians with more accurate results, better informing patient care.”

Researchers from Ambry will also present at SABCS new data from a pre-and post-test clinician survey that assessed how genetic testing for hereditary cancer impacted medical management, such as screening recommendations. The survey found that positive genetic testing results frequently lead to changes in management recommendations in both high risk (e.g. BRCA1) and moderate risk (e.g. ATM) genes. Changes to mammogram, breast MRI, and/or preventive surgery options were reported in 77.3% of positive individuals. Moreover, medical management changes largely adhered to published guidelines, indicating that clinicians are applying recommendations appropriately based on test results.

 “With this survey data, clinicians are showing us that they truly do use genetic testing results to implement personalized recommendations, which can be life-saving for a patient,” said Carrie Horton, MS, CGC, senior researcher in Ambry’s clinical affairs team. “These data provide further evidence that genetic testing is essential to comprehensive cancer care. Continued study in this area will aid clinicians, laboratories, health plans, and ultimately patients.”

Below are summaries of each of the four studies that Ambry will present at SABCS 2019.

Friday, December 13, 5:00- 7:00 PM CST

P5-07-06, Black M, et. al., Performance of Polygenic Risk Score Combined with Clinical Assessment for Breast Cancer Risk

  • Findings suggest that the 100-SNP polygenic risk score significantly improves estimation of breast cancer risk based on non-genetic models, and can be used to further identify women at increased lifetime risk who would otherwise not be identified by clinical assessment alone.

Saturday, December 14, 7:00 – 9:00 AM CST

P6-08-35, Horton C, et. al., Impact of Multigene Panel Testing on Medical Management: Preliminary Results of a Pre- and Post- Test Clinician Survey

  • The data from this ongoing study demonstrate that positive genetic test results frequently lead to changes in medical management and in some cases therapeutic recommendations.

P6-08-08, LaDuca H, et. al., Concurrent DNA and RNA Genetic Testing Identifies More Patients with Hereditary Breast Cancer than DNA Testing Alone

  • Concurrent DNA and RNA genetic testing for hereditary cancer risk through +RNAinsight identified more disease-causing mutations compared to DNA-only testing. In this study, five patients with breast cancer learned of their genetic mutations as a result of +RNAinsight and would have been missed with DNA testing alone.

P6-08-04, Yadav S, et. al., Germline Mutations in Cancer Predisposition Genes in Patients with Invasive Lobular Carcinoma of the Breast

  • Invasive lobular carcinoma (ILC) is the second-most common type of breast cancer, but the mutations that increase patients’ risk of developing ILC are largely unknown. The findings from this study improve our understanding of the mutations that increase patients’ risks for ILC and suggest that multigene genetic testing should be considered for all ILC patients.



+RNAinsight, paired with Ambry Genetics’ hereditary cancer DNA tests, uses next-generation sequencing to concurrently analyze a patient’s DNA and RNA, another layer of genetic information. +RNAinsight identifies more patients who have mutations that increase their cancer risks than through standard DNA-only testing by overcoming limitations of DNA testing. +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. +RNAinsight is now available through doctors and genetic counselors around the country. For more information on +RNAinsight, please go to

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.

Media Contact
Mickie Henshall
Chief Marketing Officer

Search Results

Start your search...