First Prospective Study Shows +RNAinsight™ Identifies More Patients with Increased Risk for Hereditary Cancer Than DNA-Only Testing

February 25, 2020


Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656

The first notable improvement in diagnostic yield for high-risk cancer genes in more than 10 years, +RNAinsight adds RNA genetic testing to DNA multigene panels  

(Aliso Viejo, CA) February 25, 2020: Ambry Genetics (Ambry), a leading clinical genetic testing lab, announced the publication of a study in Nature Partner Journal Precision Oncology finding that RNA genetic testing, conducted at the same time as DNA testing, identifies more genetic mutations that increase genetic cancer risk than DNA testing alone. Through +RNAinsight™, Ambry is the first and only lab to offer concurrent RNA and DNA genetic testing for hereditary cancer risk as a commercially available clinical test.

Inherited mutations – variants or errors in our DNA that increase cancer risk – play a major role in about five to 10 percent of all cancers. Genetic testing identifies these inherited mutations and is a critical tool to prevent hereditary cancers or treat them early. Standard DNA testing for hereditary cancer risk excludes portions of DNA, thereby missing some mutations. In addition, DNA testing can produce inconclusive results and fail to determine whether a variant 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 genetic testing at the same time as DNA testing helps address these limitations. Specifically, RNA genetic testing is an additional line of evidence that helps determine that an uncertain result from DNA-only testing is actually benign (normal) or pathogenic (disease-causing). It also helps identify mutations that DNA-only testing misses.  In the study published today, co-authors from Ambry researchers describe their scalable and targeted approach to RNA genetic testing that is performed concurrently with DNA genetic testing (+RNAinsight), showing that +RNAinsight identified more mutations than DNA-only testing.

Ambry, in collaboration with 19 other leading clinical institutions across the country, including Mass General Cancer Center, Huntsman Cancer Institute, and the Perelman School of Medicine at the University of Pennsylvania, looked at 18 tumor suppressor genes where the loss of function is known to be associated with increased cancer. A prospective study on the first 1,000 patients sent in for hereditary cancer testing using RNA testing coupled with DNA was performed.

The study found that RNA testing identified seven patients with pathogenic mutations that would otherwise have received negative or inconclusive results on DNA testing alone. For six of these seven cases, substantial changes to medical management could be or were recommended based on current guidelines.

“The study findings demonstrate both the feasibility and clinical utility of adding concurrent RNA genetic testing to determine hereditary cancer risk,” said Tyler Landrith, Ph.D., an Ambry scientist and study co-author. “+RNAinsight provides healthcare providers with more accurate results to inform patient care.”

Notably, the prospective analysis showed a 9.1 percent relative increase in diagnostic yield than DNA testing alone. Adding RNA genetic testing also resulted in a 5.1 percent relative decrease in the number of patients that would have received inconclusive results with DNA testing alone and would not have learned whether they had increased cancer risk.

“Paired RNA and DNA genetic testing has given answers to my patients who have struggled for years with inconclusive results that left them feeling helpless,” said Community Health Network Genetic Counselor Rebekah Krukenberg. “With +RNAinsight, I know that I’m providing my patients with the most accurate and conclusive information about their risks for hereditary cancer.”

The study also validated the accuracy of +RNAinsight, establishing a large control dataset of healthy patients. This dataset allowed study co-authors from Ambry researchers to establish a baseline for benign and disease-causing variants across the genes tested.

Studies have previously demonstrated the benefits of RNA genetic testing, but this testing has been traditionally performed as a follow-up to inconclusive DNA testing. This approach to RNA testing has limitations that +RNAinsight does not. A previous study from Ambry showed that only 10 percent of patients invited to receive RNA testing after having undergone DNA testing actually sent in samples. Moreover, retrospective RNA testing only looks at targeted variants and not a full range of possible mutations. Given these limitations, Ambry has made RNA genetic testing available to all patients at the same time as DNA testing through +RNAinsight.

+RNAinsight is now available through doctors and genetic counselors around the country. For more information on RNA genetic testing, please go to


+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.

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