ALISO VIEJO, Calif.–(BUSINESS WIRE)–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…