Ambry Genetics, a leader in clinical genomic testing and a wholly owned subsidiary of Tempus AI, Inc. announced the launch of GenomeNext™ and GenomeReveal™, a comprehensive whole genome sequencing (WGS) solution designed to help improve diagnosis of patients with rare diseases.
Many patients and families undergo years of testing without a diagnosis, and even comprehensive genetic testing can miss or be unable to interpret disease-causing changes. GenomeNext brings together several approaches intended to improve the ability to find and interpret those answers.
GenomeNext analyzes a patient’s genome using a pangenome reference designed to better represent human genetic diversity and improve variant detection across diverse ancestral backgrounds, alongside GenomeReveal’s integrated RNA analysis that can provide additional evidence to help interpret certain DNA findings.
“Families searching for the cause of a rare disease often spend years seeking a diagnosis,” said Thomas Slavin Jr., M.D., Chief Medical Officer of Diagnostics at Tempus and 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.
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Through Ambry’s Patient for Life program, included as part of testing, laboratory-initiated proactive reanalysis re-evaluates patient data as gene-disease knowledge evolves. This delivers clinically meaningful reclassifications to patients who previously received negative or uncertain results. Published data cited by Ambry show RNA analysis can increase diagnostic yield significantly. Additionally, its laboratory-driven reanalysis has led to positive reclassifications in 5% of previously negative or uncertain cases.
“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,” said Dr. Wendy Chung, Chief of the Department of Pediatrics at Boston Children’s Hospital and Mary Ellen Avery Professor of Pediatrics, Harvard Medical School. “This is where the field is heading, toward more comprehensive, equitable and lifelong care for patients.”
SOURCE: Businesswire
