An opportunity to change lives from the start.
Today, genome sequencing is a powerful tool for children and families searching for the cause of troubling health symptoms.
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.
By adding genome sequencing to standard newborn screening, we have the power to transform lives from the start.
Newborn screening in the United States varies from state to state, with Federal guidelines recommending testing for 37 conditions. Implemented over 30 years ago, this testing looks for biomarkers—measurable changes in the baby’s blood that indicate the baby may have a disorder.
Yet there are hundreds of disorders that lack biomarkers. Newborns with these conditions are routinely missed by today’s newborn screening, leading to months or years of unexplained symptoms and, in some cases, irreversible harm.
By diagnosing children at birth, it’s possible to start treatment before their symptoms appear. Before the disease progresses or causes irreversible damage. Before they need to undergo invasive test after test. Before their family spends days and weeks in the hospital, not knowing why—or what the future might hold.
GeneDx is dedicated to bringing this type of comprehensive and equitable screening to all newborn babies in the United States.
GeneDx, in collaboration with partners, is paving the way for genome sequencing to routinely identify treatable genetic conditions early, ensuring all children have the best chance at a healthy life from birth.
GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns) is a research study sponsored by Columbia University Irving Medical Center in partnership with New York-Presbyterian, the New York State Department of Health and Illumina. Using GeneDx genome sequencing, the study is screening 100,000 newborns for more than 400 genetic conditions not currently included in standard newborn screening.
As the largest study of its kind, GUARDIAN seeks to understand the feasibility of genome sequencing at birth to help drive earlier diagnosis and treatment to improve the health of the babies who participate. GUARDIAN has sequenced more than 12,000 newborns to date; the results are already showing a significant gap in today’s standard newborn screening, showcasing strong evidence to support the expansion of newborn screening with genomic sequencing.
A conversation with the lead investigators from the GUARDIAN study discussing the critical role newborn screening plays in early diagnosis and intervention—including the current state of newborn screening and the latest advancements.
Featured speakers:
