SCCM Resource Library-A Multicenter Cohort Analysis of Rapid Genome Sequencing in the PICU

A Multicenter Cohort Analysis of Rapid Genome Sequencing in the PICU

Video Transcription

Video Summary

Pediatric Critical Care Fellow, Katie Rodriguez, discusses the results of a study on rapid whole genome sequencing (RWGS) in the Pediatric Intensive Care Unit (PICU). The study aimed to determine the clinical utility of RWGS in the PICU and assess its diagnostic rate. The study included 80 children, and 52 genomes identified a causal genetic etiology with a diagnostic rate of 65%. The molecular diagnosis led to changes in management in 42% of patients, including medication adjustments, procedures, and palliative care consultations. The study showed that RWGS can have a significant impact on patient care in the PICU, and insurance coverage for testing is improving.

Asset Subtitle

Research, Procedures, 2023

Asset Caption

Type: star research | Star Research Presentations: Biomarkers II, Pediatrics (SessionID 30008)

Meta Tag

Content Type Presentation

Knowledge Area Research

Knowledge Area Procedures

Membership Level Professional

Membership Level Select

Tag Clinical Research Design

Tag Pediatrics

Year 2023

Keywords

Pediatric Critical Care Fellow

rapid whole genome sequencing

Pediatric Intensive Care Unit

clinical utility

diagnostic rate

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