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.<\/p>\n
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.<\/p>\n
The launch expands Ambry Genetics’ diagnostic capabilities by incorporating a pangenome reference designed to better represent genetic diversity across different ancestral populations.<\/p>\n
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.<\/p>\n
GenomeNext Uses Pangenome Technology to Improve Genetic Analysis<\/p>\n
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.<\/p>\n
Unlike testing methods that focus on selected genes or specific regions of DNA, whole genome sequencing analyses genetic information across the genome.<\/p>\n
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.<\/p>\n
The approach is intended to improve the identification of genetic variants across diverse populations.<\/p>\n
Traditional reference genomes may not represent the full range of human genetic variation, potentially creating limitations when analysing individuals from underrepresented ancestral groups.<\/p>\n
By using a broader reference framework, Ambry Genetics aims to improve variant detection and support more inclusive genetic testing.<\/p>\n
The company expects this capability to be particularly relevant for patients with complex or previously unexplained genetic conditions.<\/p>\n
However, improved variant detection does not necessarily establish whether a particular genetic change is responsible for a patient’s symptoms.<\/p>\n
Clinical interpretation remains necessary to determine the potential significance of identified variants.<\/p>\n
GenomeReveal Adds RNA Analysis to Support Diagnosis<\/p>\n
The new solution also includes GenomeReveal, which integrates RNA analysis with whole genome sequencing results.<\/p>\n
RNA testing can provide additional information about how genetic variations affect the processing and expression of genes.<\/p>\n
This evidence may help laboratories interpret DNA findings that would otherwise remain uncertain.<\/p>\n
For example, some genetic variants can alter the way RNA is processed, potentially affecting the production or function of proteins.<\/p>\n
By examining both DNA and RNA information, the combined approach may help clarify whether certain variants are associated with disease.<\/p>\n
Ambry Genetics said the integrated testing strategy is intended to provide a more comprehensive assessment of potential genetic causes of rare conditions.<\/p>\n
The addition of RNA evidence could be particularly useful in cases where conventional DNA analysis has not produced a definitive diagnosis.<\/p>\n
Nevertheless, the ability to reach a diagnosis will continue to depend on the patient’s condition, the available genetic evidence and current scientific understanding.<\/p>\n
Patient for Life Programme Provides Ongoing Genetic Reanalysis<\/p>\n
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.<\/p>\n
Genetic testing can initially produce negative or uncertain findings when the clinical significance of particular variants is not yet understood.<\/p>\n
As additional research becomes available, laboratories may be able to reinterpret previously identified genetic changes.<\/p>\n
Under the Patient for Life programme, Ambry Genetics proactively reanalyses patient information rather than relying exclusively on a new testing request.<\/p>\n
The company said its laboratory-led reanalysis has resulted in positive reclassifications in 5% of previously negative or uncertain cases.<\/p>\n
The figure is based on a 2025 study published in the medical journal Genetics in Medicine.<\/p>\n
Positive reclassification can provide additional diagnostic information, although it does not necessarily mean that every reclassified case results in a confirmed diagnosis.<\/p>\n
The programme is intended to ensure that patients may benefit from advances in genetic research after their initial test has been completed.<\/p>\n
Tempus AI Highlights Challenges Facing Rare Disease Patients<\/p>\n
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.<\/p>\n
“Families looking for the cause of a rare disease often spend years trying to obtain a diagnosis,” Slavin said.<\/p>\n
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.<\/p>\n
According to Slavin, the approach is designed to give patients access to updated interpretations as medical and scientific knowledge advances.<\/p>\n
Rare diseases can be difficult to diagnose because symptoms may overlap with those of other conditions, while some genetic causes remain poorly understood.<\/p>\n
Patients may therefore undergo multiple investigations before receiving a definitive explanation for their symptoms.<\/p>\n
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.<\/p>\n
Broader Genetic Representation Could Support More Equitable Testing<\/p>\n
The use of pangenome technology also reflects growing attention to the importance of genetic diversity in clinical diagnostics.<\/p>\n
Genomic reference datasets have historically varied in their representation of different ancestral populations.<\/p>\n
This can affect the ability of laboratories to identify and interpret certain genetic variants consistently across patient groups.<\/p>\n
By incorporating a more diverse reference framework, GenomeNext aims to reduce some of these limitations.<\/p>\n
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.”<\/p>\n
Her comments highlighted the potential importance of combining inclusive genetic analysis with the continued reassessment of patient results.<\/p>\n
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.<\/p>\n
Launch Expands Tempus AI’s Genomic Diagnostics Portfolio<\/p>\n
Ambry Genetics has operated in clinical genomic testing for approximately 25 years, providing genetic testing services for patients and healthcare professionals.<\/p>\n
As a wholly owned subsidiary of Tempus AI, the company contributes to the group’s activities in genomic diagnostics and healthcare technology.<\/p>\n
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.<\/p>\n
The approach reflects a broader shift in genetic diagnostics towards integrating multiple types of molecular information rather than relying on a single test result.<\/p>\n
For Tempus AI, the launch adds to its diagnostic product portfolio and could support its position in the market for advanced genomic testing.<\/p>\n
However, Ambry Genetics did not disclose pricing, expected testing volumes or financial projections associated with the new offering.<\/p>\n
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.<\/p>\n
Future clinical experience and published research will help establish the practical benefits of the technology for patients with rare diseases.<\/p>\n
Tempus AI stock price<\/p>\n","protected":false},"excerpt":{"rendered":"Ambry Genetics, a wholly owned subsidiary of Tempus AI (NASDAQ:TEM), has introduced GenomeNext and GenomeReveal, a new whole…\n","protected":false},"author":2,"featured_media":880849,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[50],"tags":[200,79],"class_list":["post-880848","post","type-post","status-publish","format-standard","has-post-thumbnail","category-genetics","tag-genetics","tag-science"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/880848","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/comments?post=880848"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/posts\/880848\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media\/880849"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/media?parent=880848"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/categories?post=880848"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/us\/wp-json\/wp\/v2\/tags?post=880848"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}