Medical Xpress August 24, 2022
Rady Children’s Institute for Genomic Medicine (RCIGM) today announced the publication of a study in the American Journal of Human Genetics (AJHG) describing a scalable prototype for newborn screening (NBS) that includes the diagnosis of genetic diseases by rapid Whole Genome Sequencing (rWGS) and virtual acute management guidance.
“This NBS-rWGS system is designed to complement the existing newborn screening process and has the potential to eliminate the diagnostic and therapeutic odyssey that many children and parents face,” said Stephen Kingsmore, MD, DSc, President & CEO of RCIGM and lead author. “Currently, only 35 core genetic disorders are recommended for newborn screening in the United States, but there are more than 7,200 known genetic diseases. Outcomes remain poor for newborns with...
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