Presentation
Precision Pediatric NeuroCritical Care: Integrating Rapid Genetic Testing for Critically Ill Children
DescriptionPatients with genetic disorders comprise a significant population in the Pediatric Intensive Care Unit (PICU), with neurologic disorders heavily represented. This talk will use case studies to explore the profound impact of advancements in genetic testing for critically ill children with neurologic conditions.
Recent years have witnessed the emergence of rapid genetic testing, providing results within days, as a powerful diagnostic tool in critical settings. This allows clinicians to identify genetic abnormalities and hereditary conditions in pediatric patients with unprecedented precision, transforming diagnosis, prognosis, and interventions, particularly for neurologic diseases.
The discussion will start by demonstrating that the PICU has been a primary site for managing children with genetic disorders and that neurocritical care is central to diagnosing genetic etiologies for critical illnesses. Next, the sequencing tools and analytic techniques required for rapid next-generation sequencing will be introduced. The recent literature on the impact of rapid next-generation sequencing on revolutionizing diagnosis and shortening hospital courses will be reviewed. Additionally, the challenges and barriers specific to genetic studies will be addressed. Lastly, the talk will emphasize the fundamental need for neuro-intensivists as part of interdisciplinary collaboration to interpret genetic data and form tailored treatment strategies.
The three cases presented will be: epileptic encephalopathy; metabolic disorder and neuromuscular disorder. Participants will appreciate genetic mechanisms and pathophysiology and the links to personalized treatment with precision medicine.
This talk aims to increase awareness, understanding, and integration of genomic medicine into pediatric neurocritical care, advancing the field and improving care for children with neurologic disorders.
Recent years have witnessed the emergence of rapid genetic testing, providing results within days, as a powerful diagnostic tool in critical settings. This allows clinicians to identify genetic abnormalities and hereditary conditions in pediatric patients with unprecedented precision, transforming diagnosis, prognosis, and interventions, particularly for neurologic diseases.
The discussion will start by demonstrating that the PICU has been a primary site for managing children with genetic disorders and that neurocritical care is central to diagnosing genetic etiologies for critical illnesses. Next, the sequencing tools and analytic techniques required for rapid next-generation sequencing will be introduced. The recent literature on the impact of rapid next-generation sequencing on revolutionizing diagnosis and shortening hospital courses will be reviewed. Additionally, the challenges and barriers specific to genetic studies will be addressed. Lastly, the talk will emphasize the fundamental need for neuro-intensivists as part of interdisciplinary collaboration to interpret genetic data and form tailored treatment strategies.
The three cases presented will be: epileptic encephalopathy; metabolic disorder and neuromuscular disorder. Participants will appreciate genetic mechanisms and pathophysiology and the links to personalized treatment with precision medicine.
This talk aims to increase awareness, understanding, and integration of genomic medicine into pediatric neurocritical care, advancing the field and improving care for children with neurologic disorders.
Event Type
Breakout Session
TimeTuesday, October 15th2:45pm - 3:05pm PDT
LocationHarbor Ballroom A
Clinical Practice
Coma
Multimodal Neuromonitoring (invasive/non-invasive)
Pediatric
Provider Education Topics (eg fellowship training, competency assessment, etc)
Status Epilepticus
Intermediate