Sema4|GeneDx joins GUARDIAN study to provide whole genome … – Contemporary Pediatrics

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Sema4|GeneDx has announced its partnership in the GUARDIAN study, a collaboration for screening newborns through whole genome sequencing.
Sema4|GeneDx has announced their position in the Genomic Uniform-screening Against Rare Diseases In All Newborns (GUARDIAN) study, a genome sequencing program for newborns.
By using whole genome sequencing (WGS), GUARDIAN is able to screen 100,000 newborns for health conditions that would not be found in normal newborn screenings. This can improve infants’ quality of health through early diagnosis and treatment, eventually expanding newborn screening through genomic sequencing.
Risk of death and disability is decreased through newborn screening, which can detect conditions that might lead to long-term consequences. Criteria were chosen for GUARDIAN screening, including: median age of onset before 5 years of age, greater than 90% probability of the condition developing based on the genetic result, effective treatments, and a well-established natural history of the condition.
Sema4|GeneDX will be applying their industry leading curated dataset to WGS, as they will be able to provide more answers to patients and serve as a basis for information and reporting. Currently, over 180 hospitals in the United States are using rapid exome and genome offerings from Sema4|GeneDX.
All babies born in New York City as part of the GUARDIAN partner health system will be eligible to participate in the study. Sema4|GeneDX hopes that this study will lead to characterization of prevalence and natural history of rare genetic conditions.
Moss R. Sema4|GeneDx to provide whole genome sequencing and interpretation services for landmark genomic newborn screening study. Sema4. Accessed October 7, 2022. https://ir.sema4.com/news-releases/news-release-details/sema4genedx-provide-whole-genome-sequencing-and-interpretation
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