Ambry Genetics
1 Enterprise
Aliso Viejo, CA 92656
Research highlights how ExomeReveal RNA analysis resolves ambiguity around uncertain variants to enable more genetic disease diagnoses
Aliso Viejo, Calif. —May 18, 2026 — Ambry Genetics, a leader in clinical genomic testing, and now a wholly owned subsidiary of Tempus AI, Inc. (NASDAQ: TEM), announced peer-reviewed research demonstrating the potential for variant-specific RNA testing to provide more 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 can 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. This study shows that combining exome sequencing with targeted RNA testing offers that possibility to many patients who might otherwise be in limbo,” said Tom Schoenherr, CEO of Diagnostics at Tempus. “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. Their 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. 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.” said Dr. Changrui Xiao UCI Health neurologist, clinical geneticist and medical biochemical geneticist.
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, 2024, filed with the Securities and Exchange Commission (“SEC”) on February 24, 2025, 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.
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.
Contacts
For Ambry Genetics
media@tempus.com