Researchers at Ambry Genetics, a leading clinical genetic testing lab, have announced 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. Presented at the San Antonio Breast Cancer Symposium (SABCS) this month, the data result from a study of 746 patients with breast cancer that received +RNAinsight™, paired RNA and DNA genetic testing for hereditary cancer risk.
Founded in 1999, based in the Greater Los Angeles Area, Ambry Genetics, now as part of Konica Minolta Precision Medicine, 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, including a growing database.
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.
A pre-and post-test clinician survey that assessed how genetic testing for hereditary cancer impacted medical management, such as screening recommendations 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.
“These data further prove that paired RNA and DNA genetic testing for hereditary cancer should be the industry standard.” … “Our research has consistently shown that +RNAinsight provides clinicians with more accurate results, better informing patient care.” – Holly LaDuca, MS, CGC, senior manager of clinical affairs research, Ambry
“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.” … “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.” – Carrie Horton, MS, CGC, senior researcher, clinical affairs team, Ambry
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