Research highlights how ExomeReveal RNA analysis resolves ambiguity around uncertain variants to enable more genetic disease diagnoses

ALISO VIEJO, Calif.--(BUSINESS WIRE)--Jun. 9, 2026-- Ambry Genetics, a leader in clinical genomic testing, and a wholly owned subsidiary of Tempus AI, Inc. (NASDAQ: TEM), announced peer-reviewed research demonstrating the potential for variant-specific RNA testing to provide greater clarity for patients who receive a variant of uncertain significance (VUS) result from exome testing. The study, published in Genetics in Medicine Open, showcases how targeted RNA analysis using Ambry’s ExomeReveal workflow; an innovative multiomics exome sequencing approach can help resolve uncertain findings and improve diagnostic clarity.¹

Researchers reviewed nearly 2,000 unique genetic variants identified through exome sequencing over a five-year period. About one in ten of these variants were suspected to affect how genes are “spliced,” or processed, and more than two-thirds were found in genes that are expressed in blood, making them suitable for further RNA testing. Ultimately, about 8% of the variants qualified for additional RNA analysis, more than one-third of which had originally been classified as a Variant of Uncertain Significance. A small group of participants agreed to take part in follow-up RNA testing, and among those with uncertain results, RNA testing upgraded the variant to provide a diagnosis.

“Families deserve clear answers, not uncertainty,” said Tom Schoenherr, CEO of Diagnostics at Tempus. “This study shows that combining exome sequencing with targeted RNA testing offers that possibility to many patients who might otherwise be in limbo. These findings, which have critical implications for improved patient care, demonstrate the meaningful impact we believe modern diagnostics should deliver.”

The study concludes that integrating RNA testing into diagnostic pipelines is achievable and impactful for spliceogenic variants. Furthermore, the authors’ proposed criteria for determining which variants can benefit from RNA testing can help guide adoption across clinical laboratories.

“For patients with complex medical conditions and their family members, an uncertain genetic result can be devastating,” said Dr. Changrui Xiao, a UCI Health neurologist, clinical geneticist and medical biochemical geneticist. “This study shows that combining RNA with exome sequencing gives us visibility into what is happening at the molecular level that wouldn’t be possible with exome sequencing alone. The additional information can inform diagnosis, guide clinical decisions, and provide patients and families with answers. This is the level of precision care our patients deserve.”

About Ambry Genetics ®

Ambry Genetics, a wholly owned subsidiary of Tempus, translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing and aims to improve health by understanding the relationship between genetics and disease. Over its 25-year history, Ambry has remained committed to empowering patients to make informed healthcare decisions based on their genetic data.

About TEMPUS ®

Tempus is a technology company advancing precision medicine through the practical application of artificial intelligence in healthcare. With one of the world’s largest libraries of multimodal data, and an operating system to make that data accessible and useful, Tempus provides AI-enabled precision medicine solutions to physicians to deliver personalized patient care and in parallel facilitates discovery, development and delivery of optimal therapeutics. The goal is for each patient to benefit from the treatment of others who came before by providing physicians with tools that learn as the company gathers more data. For more information, visit tempus.com.

FORWARD LOOKING STATEMENTS

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Source: Ambry Genetics