Clinical genetic testing firm Ambry Genetics has gained positive results from the first prospective study of its +RNAinsight test, which offers paired RNA and DNA testing for hereditary cancer risk.
Findings from initial 1,000 participants revealed a 9.1% increase in the identification of disease-causing DNA mutations with +RNAinsight testing, compared to DNA testing alone.
Conventional DNA testing does not include complete portions of DNA, leading to missing mutations responsible for increased cancer risks.
Ambry Genetics adds that DNA testing for hereditary cancer risk may also deliver inconclusive results.
The addition of RNA to DNA testing is intended to address these limitations, as RNA offers more evidence than DNA alone on whether DNA possesses variants that raise cancer risk.
According to the study results, +RNAinsight detected variants that increase cancer risk and would have been missed with DNA testing alone.
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The paired testing also identified whether some variants increased cancer risk in cases, whereas DNA testing alone would have been inconclusive.
Ambry Genetics scientist Tyler Landrith said: “Combining RNA and DNA genetic testing lets more people know they have genetic mutations that increase their risks for cancer, empowering them to take action to better manage their cancer risks.
“+RNAinsight is the first major, genetic-testing advancement in over ten years to increase diagnostic yield for hereditary cancer risk.”
The prospective study involved RNA genetic testing of 1,000 patients for up to 18 genes. Based on the obtained data, the company determined a baseline for benign and disease-causing mutations across the genes tested.
Ambry Genetics will present the data at the American Society of Human Genetics (ASHG) conference.