EP Magazine: Researchers, industry, and patient advocacy groups are driving efforts to facilitate early diagnosis and improve babies’ long-term outlook. Commentary by Catherine Nester, BSN, Inozyme’s VP of Physician and Patient Strategies.
STAT: The ever-lower cost is helping to drive fast-moving changes in sequencing. Health systems are preparing to test programs that could lead to the use of whole-genome screening in millions of newborns.
The results of an RCIGM research project show that an automated, virtual disease management system that includes fast whole genome sequencing and analysis could help to manage genetic diseases better.
GTRx, a clinical decision support tool, can provide front-line clinicians with the information they need to initiate precision treatments for critically ill infants and children in intensive care Rady Children’s Institute for Genomic Medicine (RCIGM®) today announced the publication of a study in Nature Communications describing and examining the performance of Genome-to-Treatment (GTRx™), an automated, virtual disease management system that integrates a rapid Whole Genome Sequencing (rWGS®) diagnosis completed in 13.5 hours with a custom lab information management system and analysis pipeline. Currently, GTRx is a prototype and encompasses about 500 genetic diseases that progress rapidly and have effective, available …
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