Fig. 5: The infrastructure, resources, and expertise required to establish the Gene-STEPS study across multiple health systems. | npj Genomic Medicine

Fig. 5: The infrastructure, resources, and expertise required to establish the Gene-STEPS study across multiple health systems.

From: International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

Fig. 5

BCH = Boston Children’s Hospital, GOS ICH = Great Ormond Street Institute for Child Health, MCC = Melbourne Children’s Campus (Murdoch Children’s Research Institute and the Royal Children’s Hospital), SickKids = The Hospital for Sick Children. Color of orange squares denotes the availability of each resource required for the study in clinical practice at each site prior to the commencement of Gene-STEPS. Solid orange = clinically available and routine for this patient group, orange diagonal lines = clinically available but not routine, orange grid lines = was not available clinically and needed to be established, research = white. *Other assessments include measures of adaptive function, quality of life, and clinical impact of genomic testing. **Advanced-omic testing includes RNA sequencing, long-read genome sequencing.

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