Ambry Genetics launches whole genome sequencing solution

Aliso Viejo, Calif. - Ambry Genetics, a subsidiary of Tempus AI, has introduced GenomeNext and GenomeReveal, whole genome sequencing solutions targeting rare disease diagnosis. This offering integrates whole genome sequencing with RNA analysis and ongoing reanalysis, according to a press release. GenomeNext incorporates a pangenome reference to enhance variant detection in diverse populations, while GenomeReveal adds RNA analysis to clarify DNA results.

The package includes Ambry's Patient for Life program, which offers proactive reanalysis of patient data as genetic research progresses. Published data suggests RNA analysis can boost diagnostic accuracy, and the company emphasizes that its laboratory-driven reanalysis has successfully reclassified 5% of previously negative or ambiguous cases.

Thomas Slavin Jr., Chief Medical Officer of Diagnostics at Tempus, explained that GenomeNext provides a more thorough genome view, incorporating additional RNA evidence and continual reanalysis to facilitate timely diagnoses, adapting as scientific understanding evolves. Ambry Genetics, a wholly-owned subsidiary of Tempus AI, operates at the intersection of precision medicine and artificial intelligence in healthcare.

The company maintains a repository of multimodal data and delivers AI-driven precision medicine solutions to healthcare providers. The launch addresses patients with rare diseases who often undergo prolonged testing without obtaining a conclusive diagnosis, as comprehensive genetic testing may overlook or misinterpret disease-causing mutations.