The milestone underscores growing adoption of combined DNA/RNA testing for hereditary cancer and rare disease diagnostics.
Ambry Genetics has completed its 1 millionth DNA/RNA test, marking a milestone for the clinical genomic testing company now owned by Tempus AI Inc.
The Aliso Viejo, California-based laboratory pioneered paired DNA/RNA testing for hereditary cancer a decade ago and remains among the only laboratories offering RNA testing insights across both hereditary cancer and exome testing.
Ambry Genetics launched its +RNAinsight testing commercially in 2019 after implementing RNA testing in 2016 as part of a research and validation pilot. The technology enables identification of deep intronic pathogenic variants and resolution of many uncertain variants in hereditary cancer testing.
Analysis of data from over 450,000 patients tested with +RNAinsight showed that 1 in 25 positive patients would have been missed without RNA data inclusion. The addition of RNA also leads to a 6% reduction in variants classified as uncertain, providing clearer answers about hereditary cancer risk for clinicians and patients.
“Our mission has always been to bring clarity and actionable answers to patients and their families, and advance precision in genetic testing,” says Tom Schoenherr, CEO of Ambry Genetics, in a release. “Reaching 1 million RNA samples isn’t just a number; it represents a million people who benefitted from potentially deeper insights into their genetics, helping pinpoint risks sooner, make more informed decisions, and intervene confidently.”
Addressing Health Equity Through RNA Analysis
The inclusion of RNA data has also improved equity in genetic test results. By leveraging functional evidence to address data gaps, RNA analysis had a significantly greater impact on variant classification and reclassifications in non-White patients compared to White patients.
In 2024, Ambry added RNA testing to its ExomeReveal offering to help improve diagnostic yield in suspected rare disease cases, expanding the technology’s application beyond hereditary cancer.
“Combining DNA and RNA provides an extra level of evidence to discover new variants and resolve ambiguity. I’ve seen this innovation clarify diagnoses and change management for my own patients,” says Huma Q Rana, MD, MPH, clinical director of the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute and assistant professor of medicine at Harvard Medical School, in a release.
The milestone highlights the growing adoption of RNA-informed diagnostics in clinical genomic testing as laboratories seek to improve diagnostic accuracy and reduce uncertainty in genetic variant interpretation.
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