Genetics in Medicine Open Study Demonstrates How Ambry Genetics’ ExomeReveal® RNA Testing Can Improve Diagnostic Clarity in Exome Testing

Key Terms

exome sequencing medical

Exome sequencing reads the portions of a person’s DNA that code for proteins — like scanning only the recipe ingredients in a cookbook where most cooking instructions matter. It uncovers genetic changes that can cause disease, point to drug targets, or predict who will respond to a therapy. For investors, exome data can speed diagnostics, reduce R&D risk, and create marketable tests or targeted medicines that affect company value.

rna testing medical

RNA testing checks for specific RNA molecules — the genetic “messenger” copies cells and viruses use — to see if a disease-causing microbe or a biological signal is present or active. For investors, RNA tests matter because they drive demand for diagnostic kits, lab services and treatments; their accuracy, regulatory approval and adoption can quickly affect a company’s sales and market value, much like a reliable detector boosting demand for a safety device.

variant of uncertain significance medical

A variant of uncertain significance is a change in a person’s DNA whose effect on health is not yet known; scientists cannot tell if it is harmless, linked to disease, or somewhere in between. For investors, VUS findings create uncertainty around genetic tests, drug targets and regulatory decisions—like a manuscript with a questionable typo that could be trivial or change the meaning—making clinical value, market adoption and company valuations harder to predict.

vus medical

A VUS (variant of uncertain significance) is a change in a gene identified by genetic testing whose impact on health is not yet known. For investors, a VUS matters because it creates uncertainty around a company’s diagnostics, drug targets or trial results—like a weather forecast that could be clear or stormy—affecting regulatory decisions, market adoption and future revenue until further studies clarify whether the variant is harmful, benign, or actionable.

multiomics medical

Multiomics is the combined analysis of different biological data types — such as genes, proteins and small‑molecule chemicals — to build a complete picture of how cells or organisms function. For investors, multiomics matters because it can make drug and diagnostic development more precise and faster by revealing causes, predicting who will benefit from a therapy, and reducing downstream clinical trial surprises — like using multiple camera angles to better understand a complex scene.

spliceogenic variants medical

Spliceogenic variants are changes in a gene that disrupt the normal editing of its RNA message, causing pieces to be left out, added, or rearranged before a protein is made. Like a film edit gone wrong that changes a scene’s meaning, these errors can create malfunctioning proteins or no protein at all, which matters to investors because they can drive demand for diagnostic tests, influence the development and marketability of targeted therapies, and affect regulatory and commercial outcomes in biotech and health care.

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

ALISO VIEJO, Calif.--(BUSINESS WIRE)-- 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

This press release contains forward-looking statements within the meaning of Section 27A of the Securities Act of 1933, as amended (the “Securities Act”), and Section 21E of the Securities Exchange Act of 1934, as amended, about Tempus and Tempus’ industry that involve substantial risks and uncertainties. All statements other than statements of historical facts contained in this press release are forward-looking statements, including, but not limited to, statements regarding the potential impact of Ambry Genetics research and publications; the contributions of Ambry Genetics research and findings to the larger scientific community and the use of its products and services to advance clinical care for patients are forward-looking statements. In some cases, you can identify forward-looking statements because they contain words such as “anticipate,” “believe,” “contemplate,” “continue,” “could,” “estimate,” “expect,” “going to,” “intend,” “may,” “plan,” “potential,” “predict,” “project,” “should,” “target,” “will,” or “would” or the negative of these words or other similar terms or expressions. Tempus cautions you that the foregoing may not include all the forward-looking statements made in this press release.

You should not rely on forward-looking statements as predictions of future events. Tempus has based the forward-looking statements contained in this press release primarily on its current expectations and projections about future events and trends that it believes may affect Tempus’ business, financial condition, results of operations and prospects. These forward-looking statements are subject to risks and uncertainties related to: Tempus’ financial performance; the ability to attract and retain customers and partners; managing Tempus’ growth and future expenses; competition and new market entrants; compliance with new laws, regulations and executive actions, including any evolving regulations in the artificial intelligence space; the ability to maintain, protect and enhance Tempus’ intellectual property; the ability to attract and retain qualified team members and key personnel; the ability to repay or refinance outstanding debt, or to access additional financing; future acquisitions, divestitures or investments; the potential adverse impact of climate change, natural disasters, health epidemics, macroeconomic conditions, and war or other armed conflict, as well as risks, uncertainties, and other factors described in the section titled “Risk Factors” in Tempus’ Annual Report on Form 10-K for the year ended December 31, 2025, filed with the Securities and Exchange Commission (“SEC”) on February 24, 2026, as well as in other filings Tempus may make with the SEC in the future. In addition, any forward-looking statements contained in this press release are based on assumptions that Tempus believes to be reasonable as of this date. Tempus undertakes no obligation to update any forward-looking statements to reflect events or circumstances after the date of this press release or to reflect new information or the occurrence of unanticipated events, except as required by law.

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1 VanNoy, Grace E., et al. “RNA-guided Clarity: The Potential for Resolving Variant Uncertainty in Clinical Exome Sequencing.” Genetics in Medicine Open, 30 Jan. 2026, https://doi.org/10.1016/j.gimo.2026.104369.

 

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Source: Ambry Genetics