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Sema4's GeneDx to Provide Genome Sequencing, Interpretation for Large-Scale Newborn Screening Study

NEW YORK – Sema4 said on Wednesday that its GeneDx subsidiary will provide whole-genome sequencing and interpretation services for a recently launched newborn screening study in New York City called GUARDIAN (Genomic Uniform-screening Against Rare Diseases in All Newborns).

The study — a collaboration between Columbia University Irving Medical Center, NewYork-Presbyterian, the New York State Department of Health, Sema4, and Illumina — plans to screen 100,000 newborns for up to 250 rare genetic conditions, most of them treatable, that are not covered by standard newborn screening. It aims to provide earlier diagnosis and treatment, and to generate evidence for the expansion of newborn screening through genome sequencing.

"The results from this study will help us understand the true impact sequencing at birth can have on newborns and their families in comparison to the current standard of care, particularly as we'll evaluate clinical outcomes in addition to the psychosocial effect on families," said Paul Kruszka, chief medical officer of GeneDx, in a statement.

The study is open to all babies born in one of NewYork-Presbyterian's hospitals in New York City.