Novel Newborn Screening (NBS) System Uses Rapid Whole Genome Sequencing (rWGS) and Acute Management Guidance to Screen for and Diagnose Genetic Diseases; Study Demonstrates Feasibility of NBS-rWGS Prototype to Rapidly Screen for Several Hundred Genetic Diseases with Effective Interventions; 99.7% Specificity Achieved for 388 Genetic Diseases

On August 24, 2022, Rady Children’s Institute for Genomic Medicine (RCIGM®) in San Diego announced publication of a peer-reviewed study in the American Journal of Human Genetics (AJHG) describing a scalable prototype for newborn screening (NBS) that includes the diagnosis of genetic diseases by rapid Whole Genome Sequencing (rWGS®) and virtual acute management guidance. The open-access AJHG article is titled “A Genome Sequencing System for Universal Newborn Screening, Diagnosis, and Precision Medicine for Severe Genetic Diseases.”
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