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GeneDx Announces Progress on GUARDIAN Study and Promise of Early Genomic Testing to End Rare Disease “Diagnostic Odyssey”
Genome Sequencing and Interpretation Services Progressing Quickly for 1,000 Newborns Enrolled in Study to Date; On Track to Support up to 100,000 Study
About this update from Genedx Holdings Corp.
[{"type":"text","content":"Genome Sequencing and Interpretation Services Progressing Quickly for 1,000 Newborns Enrolled in Study to Date; On Track to Support up to 100,000 Study Participants in Next Four YearsInitial Data and Analysis Presented at the ACMG (American College of Medical Genetics and Genomics) Annual Meeting Show Whole Genome Sequencing Identified Rare Genetic Conditions Not Otherwise Part of Standard Newborn Screening STAMFORD, Conn., March 20, 2023 (GLOBE NEWSWIRE) -- GeneDx Holdings Corp (GeneDx) (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced it is continuing to support whole genome sequencing (WGS) and interpretation services for the GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns) study, a research study recently launched by Columbia University using WGS to screen 100,000 newborns for more than 250 genetic conditions not currently included in standard newborn screening. Initial data from this study were presented at the ACMG Annual Meeting during the R. Rodney Howell Symposium, Setting the Stage for Genomic Sequencing of All Newborns, on Saturday, March 18, 2023. As presented by Wendy Chung, M.D., Ph.D., a clinical and molecular geneticist, the Kennedy Family Professor of Pediatrics in Medicine and Chief of Clinical Genetics at Columbia University, and principal investigator for the study, of the 1,000 newborns enrolled to date, true positive screening outcomes were present in 2.6 percent of newborns. This included 15 confirmed cases with G6PD deficiency, a genetic disorder not integrated with standard newborn screening. G6PD deficiency is a result of decreased function in an enzyme called G6PD (glucose-6-phosphate dehydrogenase) and causes a breakdown of red blood cells in response to infections, certain drugs, foods, or stress, and is a risk for severe neonatal hyperbilirubinemia. Additionally, reportable sequence variants from 238 genes screened in the GUARDIAN study were included in a retrospective analysis performed by GeneDx. For almost 25,000 individuals with positive exome or genome sequencing, more than 20% of individuals could have identified their genetic disease, on average, 7 to 11 years sooner had they received genome sequencing at birth. “GUARDIAN is quickly teaching us a lot about how to implement genome sequencing in newbor...