Wendy Chung: Expanding Newborn Screening with DNA Sequencing
Wendy Chung, Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School, shared a post by on LinkedIn:
”Exciting news!
The initial findings of the GUARDIAN study have been published in JAMA, Journal of the American Medical Association, showcasing the feasibility of DNA sequencing based expanded newborn screening.
This groundbreaking study, the largest of its kind with currently over 13,000 newborns screened, reports on the first 4000 newborns enrolled, demonstrating the potential for early detection of treatable conditions.
”The GUARDIAN study: Genomic newborn screening (newborn screening) using dried blood spots in 4,000 newborns achieved 99.6% sequencing success.
Of the 3.7% screen-positive rate, 110 were true positives missed by traditional newborn screening, enabling early intervention for conditions like severe combined immunodeficiency (SCID) and long QT syndrome.”
Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
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