Ambry Genetics, Aliso Viejo, Calif, has launched +RNAinsight, a major advance in genetic testing that enables clinicians to conduct both DNA and RNA genetic testing at the same time.

DNA testing alone can produce inconclusive, unhelpful results about whether a genetic variant increases the risk for cancer. Moreover, standard DNA testing for hereditary cancer excludes large portions of DNA, thereby missing variants that cause increased risks for cancer. Testing RNA as well as DNA overcomes such limitations for a significant number of patients because RNA provides considerably more evidence than DNA alone about whether a person carries variants that cause increased risks for cancer.

Testing both RNA and DNA simultaneously represents the first genetic testing advance in more than a decade to significantly increase the diagnostic yield (meaning the number of patients identified with a specific hereditary risk for cancer) in genes such as BRCA1 and BRCA2. Clinicians can use this information with patients and their relatives to try to prevent cancer from developing or to detect cancer early.

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Aaron Elliott, PhD, Ambry Genetics.

“We developed paired RNA and DNA testing to provide more accurate and conclusive results that patients and doctors can act on,” says Aaron Elliott, PhD, CEO of Ambry Genetics. “With +RNAinsight, we not only identify mutations that DNA testing alone would miss, we also provide answers for patients who have been dealing with inconclusive results for years.”

This year, almost 700,000 people in the United States are expected to undergo clinical-grade genetic testing to learn whether they have genetic mutations linked to increased risks of cancer. With paired RNA and DNA testing, an estimated 16,000 of these individuals could get the genetic information they need that they might not get from DNA testing alone.

“Paired RNA and DNA genetic testing is a remarkable leap forward. My patients are finally getting answers I was unable to provide before,“ says Huma Rana, MD, clinical director of cancer genetics and prevention at Dana Farber Cancer Institute. “In our short time using this technology, we have made meaningful changes to patient care.“

In fact, those 16,000 individuals are just the beginning of the number of people who could be helped because this number does not include their relatives, who can then be tested to learn of their own increased risks. Nor does it include patients previously tested who had received inconclusive results from DNA testing alone and will now receive reclassification reports based on +RNAinsight.

“Paired RNA and DNA testing has meant everything to me and my family in our fight against cancer, finally letting my brother, sister, and me know we have a genetic mutation that causes Lynch syndrome, which puts us at an increased risk for colorectal and uterine cancers,“ says Turkeesa Looper. “Past DNA tests never told us that, and now our family, including my nieces and nephews, can also take action.“

Huma Rana, MD, Dana Farber Cancer Institute

Huma Rana, MD, Dana Farber Cancer Institute.

A prospective analysis of the first 2,500 patients tested with paired RNA and DNA hereditary cancer testing for up to 18 genes, sent in from pilot clinical sites, resulted in a relative increase in diagnostic yield of approximately 7%. The impact on diagnostic yield varies by gene, with some genes having a relative diagnostic yield increase of more than 15%. ATM, BRCA1, MSH2, and PMS2, are among the genes with higher increases. Patients with such genetic mutations will now benefit from preventive steps, early detection, reduced cancer incidence, and increased survival, as will their relatives who get tested.

The data also illustrate +RNAinsight’s ability to clarify results that were previously deemed inconclusive as a result of DNA testing alone. The test was able to decrease the number of inconclusive results across the included cancer risk genes by approximately 5% relative to DNA testing alone.

Ambry’s +RNAinsight is now available through doctors and genetic counselors throughout the country.

For further information, visit Ambry Genetics.