Nicklaus Children’s Hospital in the US has collaborated with Rady Children’s Institute for Genomic Medicine and Sanford Health to launch two genomic medicine research protocols for effective diagnosis and treatment of children with unexplained illnesses.
The hospital and the institute are part of the Sanford Children’s Genomic Medicine Consortium, which proposes to advance children’s medicine through integration of genomics into pediatric care.
Genomic medicine is aimed at developing a precision care plan for each child based on determining an underlying genetic diagnosis.
The collaboration is set to offer whole genome sequencing (WGS) to children in two settings.
Acutely ill patients with undetermined illnesses in three intensive care units at Nicklaus Children’s will be eligible for rapid whole genome sequencing (rWGS) testing to provide the best results.
Children with chronic undiagnosed medical conditions will also receive WGS.
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Rady Children’s Institute for Genomic Medicine president and CEO Stephen Kingsmore said: “The information we receive from whole genome sequencing is helping medical teams make treatment decisions, providing hope to these children and families.
“This is the beginning of our long-term vision to save babies with rare, life-threatening diseases by making genomic testing available to NICUs, PICUs and CICUs nationwide.”
As part of the collaboration, patient blood samples will be sent by Nicklaus Children’s Hospital to Rady Children’s Institute for Genomic Medicine in San Diego.
WGS, bioinformatics analysis, and initial clinical interpretation will take place in San Diego and the results will be used by experts at the hospital to care for children in Miami.
rWGS is a relatively new test and can provide faster diagnoses for acutely ill newborns and children, compared to traditional genome testing.