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GeneDx announces progress on GUARDIAN study

GeneDx Holdings is continuing to support whole genome sequencing and interpretation services for the GUARDIAN 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 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.

Published first on TheFly

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