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GeneDx to Showcase Data from Largest Genomic Newborn Screening Cohort of 14,000 Newborns
Data to be presented at the International Conference on Newborn Sequencing (ICoNS) highlighting lessons learned from the GUARDIAN and Early Check newborn
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[{"type":"text","content":"\nData to be presented at the International Conference on Newborn Sequencing (ICoNS) highlighting lessons learned from the GUARDIAN and Early Check newborn sequencing studies showcasing GeneDx’s deep expertise as the leader for gNBS\n\n STAMFORD, Conn.--(BUSINESS WIRE)--\nGeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced it has provided genomic newborn screenings (gNBS) for more than 14,000 infants through its participation in groundbreaking research studies which aim to explore the clinical utility and implementation of utilizing genome sequencing to expand standard newborn screening (NBS). Through these studies, GeneDx has conducted more gNBS than any other lab and gained experience understanding diverse multi-site implementation strategies, positioning GeneDx as a laboratory leader set to revolutionize the standard approach to NBS.\n\nEarly diagnosis is critical to ensuring patients have the best chance at fighting the progression of disease. The broad availability of gNBS can significantly decrease time-to-diagnosis, which is particularly critical for diagnoses with actionable outcomes, including associated treatments and/or interventions. Through a retrospective analysis of its large database - currently more than 700,000 exomes and genomes - GeneDx looked to identify positive findings that would have been reported at birth had gNBS been available to patients as newborns. This analysis showed that greater than 21% of patients would have received a diagnosis earlier, on average by more than 8 years.\n\nAs the lab behind industry moving research studies, including GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns), which has served more than 10,000 infants, and its early involvement in Early Check, supporting 2,000 infants, GeneDx has a unique understanding of the complexities of offering gNBS at scale. Interpretation of gNBS is heavily dependent on having a robust and diverse database of clinically significant variants to reduce the burden of analysis. Additionally, expertise in technical evaluation and understanding sequencing data outputs are necessary to inform variant interpretation and deliver a more definitive diagnosis.\n\n“GeneDx’s participation in GUARDIAN and Early Check allowed us to not only help end the diagnostic odyssey by de...