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Findings from the first 4,000 newborns screened using GeneDx genome sequencing, were published today in the Journal of the American Medical Association (JAMA).
October 24, 2024 • 2 min read
At GeneDx, we believe there’s a better way—a way to give families critical health information, not after years of searching, but before symptoms even begin. And a groundbreaking research study helps show we’re right.
The initial results from the groundbreaking GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns) study were just published in JAMA.
The study helps demonstrate the power of genome sequencing in newborn screening, enabling early diagnosis and treatment for more than 250 genetic conditions. Traditional newborn screening methods don’t include these conditions, but the new findings published in JAMA from the GUARDIAN study showcase that advanced genomics can bridge that gap.
Of the 4,000 newborns screened using GeneDx genome sequencing, 3.7% had positive screenings. The majority of those would not have been picked up by traditional newborn screening today.
Early diagnosis for conditions like long QT syndrome and Wilson disease not included in standard newborn screening, resulted in life-saving treatments.
GUARDIAN is exploring the utility of using genome sequencing to identify early onset genetic conditions in newborns from a diverse population.
The study brings us one step closer to ensuring that all children have access to equitable healthcare.
When Margot was born in April 2023, her mother Lili chose to participate in the GUARDIAN study. Lili’s genome screening revealed a rare condition which would have been missed with just the standard screening: a CDKL5 deficiency disorder. The early diagnosis resulted in new treatments, giving Margot the best chance at a healthier life from birth.
Thanks to GeneDx, more than 15,000 newborns have received genomic newborn screening. That’s more than any other commercial laboratory. This experience gives GeneDx a deep understanding of how to offer this new testing at scale for babies born at hospitals across the United States.
It’s one more way we’re building a world where any genetic disorder is diagnosed quickly to prevent disease progression and ensure long and healthy lives for all.
Read the JAMA paper here, and learn about GeneDx’s commitment to genome-based newborn screening here.
