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GeneDx outlines NIH BEACON and Florida pilot; advocates urge Connecticut to add Gaucher to newborn screen
Summary
GeneDx described its role in the NIH BEACON multi‑state genomic newborn‑screening study and Florida’s Sunshine Genetic pilot; patient advocates urged Connecticut to pursue Gaucher disease screening to shorten diagnostic delays and prevent irreversible harm.
GeneDx told the Rare Disease Advisory Council it is a sequencing and interpretation partner for large newborn genomic‑screening efforts, and patient advocates urged Connecticut regulators to consider adding Gaucher disease to the state newborn‑screening panel.
Shannon Belmont, director of government affairs for GeneDx, said GeneDx has sequenced more than 1,000,000 babies and will provide sequencing support for the NIH BEACON study, which the study team plans to test in up to 30,000 newborns across seven to ten states. Belmont…
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