Ambry Launches Genome Sequencing Test to Help Diagnose Rare Diseases

Rare Daily Staff

Tempus AI subsidiary Ambry Genetics said it launched GenomeNext, a whole-genome sequencing test that combines broad DNA analysis, supplemental RNA testing and ongoing reanalysis of results to help identify the genetic causes of rare diseases.

The company announced the launch alongside GenomeReveal, its supplemental RNA analysis offering. The approach is intended to help patients whose conditions remain unexplained, including those who have received negative or inconclusive results from previous genetic testing.

Patients with suspected rare genetic diseases can spend years seeking a diagnosis, and genetic testing does not always yield a clear answer. A disease-causing change may go undetected, or scientists may lack enough evidence to determine whether a detected change explains a patient’s symptoms.

“Families searching for the cause of a rare disease often spend years seeking a diagnosis,” said Thomas Slavin Jr., chief medical officer of diagnostics at Tempus and a medical geneticist. “GenomeNext allows a more comprehensive view of the genome leveraging additional RNA evidence and ongoing reanalysis so that we’re giving patients the best opportunity to reach a diagnosis, while continuing to update them as the science evolves.”

GenomeNext examines nuclear genes, mitochondrial DNA and regions beyond the protein-coding portions of the genome assessed by exome sequencing. It evaluates several types of genetic changes, including single-letter DNA changes, missing or duplicated stretches of DNA, and larger structural changes.

The test uses a pangenome reference designed to represent a wider range of human genetic diversity. Ambry said this approach is intended to reduce population bias and improve detection of genetic variants in people from diverse and historically underrepresented ancestral backgrounds.

GenomeReveal adds RNA analysis when genome sequencing identifies clinically relevant variants that require additional evidence to interpret. By examining RNA splicing and gene expression, the analysis may help clarify how a DNA change affects a gene and improve confidence in determining whether it contributes to disease.

The offering also includes Ambry’s Patient for Life program, which reexamines genetic data as scientific understanding of genes and disease advances. The laboratory initiates the review rather than relying solely on clinicians to request another analysis. Ambry said its program proactively shares updated reports with the healthcare provider who ordered the testing when new evidence helps explain an earlier result.