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Rapid genome sequencing in the PICU
In the PICU, children can present with acute symptoms and no clear underlying diagnosis – critical care decisions cannot wait. Rapid and ultraRapid genome sequencing as a first-line test enables fast, accurate diagnoses that drive real-time clinical action.
Earlier answers when timing is critical
When the clinical picture remains unclear, sequential testing approaches can prolong the time to answers needed to guide care. Approximately ¼ of pediatric hospitalizations are associated with underlying genetic conditions1, yet many disorders cannot be identified based on clinical features alone.2 Using rapid genome sequencing as a first-line test helps care teams identify the genetic cause faster and avoid unnecessary testing or procedures. 3,4
1 in 4 children in the PICU receive a genetic diagnosis when rapid genome sequencing is used as a first-line test5
Rapid genomic insights can bring clarity to complex cases
GeneDx delivers the speed and accuracy needed for care teams to act with confidence when every moment counts.
Rapid genome sequencing has been shown to:
Reduce time to diagnosis by 50%⁵
Increase the number of genetic diagnoses in the PICU by 27%⁵
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Reduce the length of ICU stays by up to 9 days⁶
had immediate changes to ICU management⁷
had broader clinical management changes⁷
When should genetic testing be ordered in the PICU?
Approaches for initiating rapid genomic testing can vary across pediatric critical care settings. Evidence–informed testing models can help support earlier identification of patients who may benefit from testing.*
Inclusion-based protocols
- Unexplained critical illness/onset
- Neurologic emergency
- Cardiac instability
- Respiratory failure of unclear etiology
- Sepsis-like presentation with negative workup
- Metabolic crisis/acidosis/hyperammonemia
- Rapid deterioration or escalating support intervention
- Multisystem involvement
- Known/suspected genetic condition without molecular confirmation
- Failure to thrive/growth faltering
- Repeated admissions without clear cause
- Unresponsive to standard treatment protocols
Exclusion-based protocols
- Diagnosis already confirmed that fully explains presentation
- Genomic results would not change acute management
Rapid and ultraRapid genome sequencing designed for pediatric critical care
It also tests for repeat expansion disorders associated with the following genes:
Rapid testing options
Genome sequencing
is recommended
as a first-line test
- The American College of Medical Genetics and Genomics (ACMG) recommends genome or exome as a first-line test for developmental delay, intellectual disability, and congenital anomalies.⁸
- The National Society of Genetic Counselors (NSGC) recommends genome or exome as a first-line test for all individuals with unexplained epilepsy, and this guideline is endorsed by the American Epilepsy Society (AES).⁹
- The American Academy of Pediatrics (AAP) recommends ordering exome and genome as a first-line test for children with global developmental delays and intellectual disabilities.¹⁰
Learn more about whole genome sequencing and whole exome sequencing.
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Supporting confident, family-centered decisions
Rapid genome sequencing supports family-centered care by helping families navigate critical decisions with greater confidence in high-stress settings. An earlier diagnosis can help avoid unnecessary testing and appointments, while also reducing stress and emotional burden for families.¹¹⁻¹³
of parents reported value in genomic sequencing when a diagnosis is unclear¹⁴
of parents opt to proceed with rapid genome sequencing for their child when offered⁵
PICU case study: Real-world diagnostic impact
A 16-year-old male with a history of hypotonia, autism spectrum disorder, developmental delay, and mild pulmonary artery stenosis was admitted to the PICU following unexplained cardiac arrest. Rapid genome sequencing revealed a diagnosis that informed immediate changes in clinical management.§
Your trusted partner for PICU genomic testing
GeneDx is the #1 ranked genomic testing brand among pediatric and genetic physicians.¹⁵ Trusted
by more than 75,000 health care providers worldwide.¹⁶ We offer seamless integration into PICU
workflows, so care teams can act quickly when timing is critical.
Helpful resources
PICU Rapid Genome Huddle Sheet
A quick bedside reference designed to help care teams identify patients in the PICU who may benefit from rapid genome sequencing and support testing discussions during everyday workflows.
Genomics at the bedside: Advancing inpatient care through rapid testing
Learn about the clinical utility and implementation of rapid genomic testing in the inpatient setting.
Get started with rapid genome sequencing
We’re here to support every step.