Ambry Genetics Launches Whole Genome Sequencing Tests to Improve Rare Disease Diagnosis

Ambry Genetics, a wholly owned subsidiary of Tempus AI (NASDAQ:TEM), has introduced GenomeNext and GenomeReveal, a new whole genome sequencing solution designed to improve the identification of genetic conditions in patients with rare diseases.

The offering combines comprehensive DNA sequencing, RNA analysis and ongoing reassessment of genetic information to help identify disease-associated variants that may be difficult to detect or interpret using conventional testing approaches.

The launch expands Ambry Genetics’ diagnostic capabilities by incorporating a pangenome reference designed to better represent genetic diversity across different ancestral populations.

The company said the technology is intended to support more accurate genetic analysis while providing patients with opportunities for additional diagnostic findings as scientific knowledge develops.

GenomeNext Uses Pangenome Technology to Improve Genetic Analysis

GenomeNext is designed to examine a patient’s entire genome, providing a broad assessment of genetic variations that may be associated with inherited or rare medical conditions.

Unlike testing methods that focus on selected genes or specific regions of DNA, whole genome sequencing analyses genetic information across the genome.

A distinguishing feature of GenomeNext is its use of a pangenome reference, which incorporates genetic information from multiple ancestral backgrounds rather than relying on a single reference sequence.

The approach is intended to improve the identification of genetic variants across diverse populations.

Traditional reference genomes may not represent the full range of human genetic variation, potentially creating limitations when analysing individuals from underrepresented ancestral groups.

By using a broader reference framework, Ambry Genetics aims to improve variant detection and support more inclusive genetic testing.

The company expects this capability to be particularly relevant for patients with complex or previously unexplained genetic conditions.

However, improved variant detection does not necessarily establish whether a particular genetic change is responsible for a patient’s symptoms.

Clinical interpretation remains necessary to determine the potential significance of identified variants.

GenomeReveal Adds RNA Analysis to Support Diagnosis

The new solution also includes GenomeReveal, which integrates RNA analysis with whole genome sequencing results.

RNA testing can provide additional information about how genetic variations affect the processing and expression of genes.

This evidence may help laboratories interpret DNA findings that would otherwise remain uncertain.

For example, some genetic variants can alter the way RNA is processed, potentially affecting the production or function of proteins.

By examining both DNA and RNA information, the combined approach may help clarify whether certain variants are associated with disease.

Ambry Genetics said the integrated testing strategy is intended to provide a more comprehensive assessment of potential genetic causes of rare conditions.

The addition of RNA evidence could be particularly useful in cases where conventional DNA analysis has not produced a definitive diagnosis.

Nevertheless, the ability to reach a diagnosis will continue to depend on the patient’s condition, the available genetic evidence and current scientific understanding.

Patient for Life Programme Provides Ongoing Genetic Reanalysis

Ambry Genetics has incorporated its Patient for Life programme into the new offering, allowing patient genetic data to be reassessed as knowledge about gene-disease relationships evolves.

Genetic testing can initially produce negative or uncertain findings when the clinical significance of particular variants is not yet understood.

As additional research becomes available, laboratories may be able to reinterpret previously identified genetic changes.

Under the Patient for Life programme, Ambry Genetics proactively reanalyses patient information rather than relying exclusively on a new testing request.

The company said its laboratory-led reanalysis has resulted in positive reclassifications in 5% of previously negative or uncertain cases.

The figure is based on a 2025 study published in the medical journal Genetics in Medicine.

Positive reclassification can provide additional diagnostic information, although it does not necessarily mean that every reclassified case results in a confirmed diagnosis.

The programme is intended to ensure that patients may benefit from advances in genetic research after their initial test has been completed.

Tempus AI Highlights Challenges Facing Rare Disease Patients

Thomas Slavin Jr., M.D., Chief Medical Officer of Diagnostics at Tempus and a medical geneticist, highlighted the lengthy diagnostic process experienced by many families affected by rare diseases.

“Families looking for the cause of a rare disease often spend years trying to obtain a diagnosis,” Slavin said.

He explained that GenomeNext combines broader genomic analysis with additional RNA evidence and ongoing reassessment of results to improve the opportunities for identifying underlying genetic conditions.

According to Slavin, the approach is designed to give patients access to updated interpretations as medical and scientific knowledge advances.

Rare diseases can be difficult to diagnose because symptoms may overlap with those of other conditions, while some genetic causes remain poorly understood.

Patients may therefore undergo multiple investigations before receiving a definitive explanation for their symptoms.

Ambry Genetics’ new testing solution is intended to address some of these challenges by combining different sources of genetic evidence within a continuing diagnostic process.

Broader Genetic Representation Could Support More Equitable Testing

The use of pangenome technology also reflects growing attention to the importance of genetic diversity in clinical diagnostics.

Genomic reference datasets have historically varied in their representation of different ancestral populations.

This can affect the ability of laboratories to identify and interpret certain genetic variants consistently across patient groups.

By incorporating a more diverse reference framework, GenomeNext aims to reduce some of these limitations.

Dr Wendy Chung, Chief of the Department of Pediatrics at Boston Children’s Hospital and Mary Ellen Avery Professor of Pediatrics at Harvard Medical School, described the approach as a move towards “more comprehensive, equitable and lifelong care for patients.”

Her comments highlighted the potential importance of combining inclusive genetic analysis with the continued reassessment of patient results.

The effectiveness of the approach will ultimately depend on its performance in clinical use and its ability to provide meaningful diagnostic information across different populations.

Launch Expands Tempus AI’s Genomic Diagnostics Portfolio

Ambry Genetics has operated in clinical genomic testing for approximately 25 years, providing genetic testing services for patients and healthcare professionals.

As a wholly owned subsidiary of Tempus AI, the company contributes to the group’s activities in genomic diagnostics and healthcare technology.

The introduction of GenomeNext and GenomeReveal expands its range of testing capabilities for rare diseases by combining whole genome sequencing, RNA analysis and ongoing interpretation of patient data.

The approach reflects a broader shift in genetic diagnostics towards integrating multiple types of molecular information rather than relying on a single test result.

For Tempus AI, the launch adds to its diagnostic product portfolio and could support its position in the market for advanced genomic testing.

However, Ambry Genetics did not disclose pricing, expected testing volumes or financial projections associated with the new offering.

The company’s announcement also did not provide a quantified estimate of how much the combined testing approach may improve diagnostic rates compared with existing methods.

Future clinical experience and published research will help establish the practical benefits of the technology for patients with rare diseases.

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