Ambry Genetics, a leading provider of clinical genomic testing and now a wholly owned subsidiary of Tempus AI, has announced the completion of its one-millionth DNA and RNA test, marking a major milestone in advancing diagnostic precision. The company first pioneered paired DNA and RNA testing for hereditary cancer a decade ago and remains one of the few laboratories offering RNA testing insights for both hereditary cancer and exome analysis.

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RNA testing was initially introduced by Ambry Genetics in 2016 through a research and validation pilot and launched commercially in 2019 as +RNAinsight. This approach revolutionized hereditary cancer testing by identifying deep intronic pathogenic variants and clarifying previously uncertain genetic results. Analysis of data from over 450,000 patients using +RNAinsight showed that one in twenty-five positive cases would have been missed without RNA data. Additionally, RNA integration reduced the number of variants classified as uncertain by six percent. The combined DNA and RNA testing provides clinicians and patients with more accurate and actionable insights into hereditary cancer risk.

Incorporating RNA data has also improved equity in genetic testing outcomes. Functional RNA evidence helps fill data gaps that have historically affected non-White populations, resulting in more accurate variant classification and reclassification for underrepresented groups. Building on this success, Ambry expanded RNA testing to its ExomeReveal offering in 2024, improving diagnostic yield for patients with suspected rare diseases.

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Tom Schoenherr, Chief Executive Officer of Ambry Genetics, stated that the milestone of one million RNA samples represents more than just a number. He explained that it reflects a million individuals who have benefited from deeper genetic insights, enabling earlier risk identification, informed decision-making, and confident medical interventions. 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, added that combining DNA and RNA provides additional evidence to discover new variants and resolve ambiguity, ultimately clarifying diagnoses and influencing patient care decisions.

This milestone highlights Ambry Genetics’ ongoing mission to improve precision in genetic testing, deliver clear answers to patients and families, and drive meaningful advances in hereditary cancer and rare disease diagnostics.

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