The new testing solution integrates ongoing data reanalysis to re-evaluate variants as clinical gene-disease knowledge expands.
Ambry Genetics has launched GenomeNext and GenomeReveal, a whole genome sequencing solution developed to aid in diagnosing patients with rare diseases. The clinical testing offering combines whole genome sequencing, integrated RNA analysis, and ongoing laboratory-driven reanalysis to address persistent diagnostic obstacles in clinical genetics.
Many patients with rare conditions face extended diagnostic odysseys, as standard genetic testing methods can miss or fail to interpret disease-causing variants. GenomeNext is structured to overcome these interpretation bottlenecks through multiple analytical layers.
Pangenome Reference and RNA Analysis
GenomeNext evaluates a patient’s genome using a pangenome reference designed to better represent human genetic diversity and improve variant detection across diverse ancestral backgrounds. Working alongside the sequencing platform, GenomeReveal incorporates RNA analysis to provide complementary functional evidence for interpreting specific DNA findings.
“Families searching for the cause of a rare disease often spend years seeking a diagnosis,” “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,” says Thomas Slavin Jr, MD, chief medical officer of diagnostics at Tempus and medical geneticist, in a release.
Proactive Reanalysis for Negative and Uncertain Cases
The testing service includes Ambry’s Patient for Life program, which provides proactive, laboratory-initiated data reanalysis over time. As gene-disease associations and scientific knowledge evolve, the laboratory re-evaluates sequencing datasets to deliver clinically meaningful reclassifications for patients who previously received negative or uncertain findings.
According to published data cited by Ambry, incorporating RNA analysis significantly increases diagnostic yield. In addition, the laboratory’s proactive reanalysis protocol has achieved positive reclassifications in 5% of cases that were initially classified as negative or uncertain.
“Advances in the use of a pangenome reference representing wider human diversity, RNA analysis, and ongoing reanalysis are not just technical upgrades. They lead to a more complete approach to clinical genomics that enables better variant detection, improves diagnostic yield across diverse populations and provides clinically meaningful insights that evolve over time. This is where the field is heading, toward more comprehensive, equitable and lifelong care for patients,” says Wendy Chung, MD, PhD, chief of the department of pediatrics at Boston Children’s Hospital and Mary Ellen Avery professor of pediatrics at Harvard Medical School, in a release.
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