Ambry Genetics Announces GenomeNext™, a Whole Genome Sequencing Test Solution to Improve Diagnosis for Rare Diseases

Thomas Slavin Jr., M.D., Chief Medical Officer of Diagnostics at Tempus and Medical Geneticist

“Families searching for the cause of a rare disease often spend years seeking a diagnosis”

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.”

Wendy Chung, M.D., Chief of the Department of Pediatrics at Boston Children's Hospital and Mary Ellen Avery Professor of Pediatrics, Harvard Medical School

“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.”

Wendy Chung, M.D., 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.”