PICU/CICU — Rapid Genomic Sequencing
for critically ill children in pediatric and cardiac ICUs using rapid exome/genome sequencing
System Profile
Yield Comparison
Clinical Dimensions
- Critically ill child with suspected genetic etiology
- Unexplained multi-organ failure
- Refractory seizures in pediatric ICU
- Acute decompensation of chronic undiagnosed condition
- Post-cardiac surgery complications suggesting genetic syndrome
- Genetic cardiomyopathies presenting acutely
- Mitochondrial disorders with acute decompensation
- Genetic epileptic encephalopathies
- Primary immunodeficiencies with severe infection
- Metabolic crises in childhood
- Genetic neuromuscular disorders with respiratory failure
- Multi-organ dysfunction
- Acute encephalopathy
- Refractory cardiac failure
- Unexplained metabolic acidosis
- Progressive neurological deterioration
- Acute deterioration in previously stable child
- Recurrent ICU admissions
- Treatment-refractory critical illness
- Rapid trio exome or genome sequencing
- Metabolic workup (lactate, ammonia, organic acids)
- Inflammatory markers
- Immune function panels
- CT/MRI for acute neurological changes
- Echocardiography for cardiac function
- CT angiography for vascular anomalies
- Continuous EEG monitoring
- Cardiac catheterization
- Muscle biopsy (if neuromuscular suspected)
- Empiric treatment pending diagnosis
- Targeted therapy following genetic diagnosis
- Goals-of-care medications when futility established
- Emergency cardiac surgery
- Transplant evaluation based on genetic diagnosis
- Mechanical ventilation
- ECMO
- Ventricular assist devices
- Continuous renal replacement therapy
- Pediatric intensivist
- Clinical genetics (rapid consult)
- Pediatric cardiology (CICU)
- Palliative care when appropriate
- Childhood deaths in family
- Known genetic conditions
- Consanguinity
- Cardiomyopathy or sudden death
- History of neonatal complications
- Known prenatal anomalies
Red Flag Combinations
Clinical patterns that should prompt consideration of genetic testing
Refractory seizures + metabolic crisis in child
Cardiomyopathy + neuromuscular weakness
Recurrent infections + failure to thrive + multi-organ disease
Acute neurological deterioration + lactic acidosis
Cardiac failure + hepatic dysfunction + encephalopathy
Screening Decision Pathway
When to consider genetic testing for picu/cicu — rapid genomic sequencing presentations
graph TD
START["Patient Presents with\nPICU/CICU — Rapid Genomic Sequencing Concerns"] --> SCREEN{"Screen for\nRed Flags"}
SCREEN --> RF1["Critically ill child without clear acquired etiolo..."]
SCREEN --> RF2["Recurrent ICU admissions without diagnosis"]
SCREEN --> RF3["Multi-organ involvement in a child"]
RF1 --> EVAL{"Multiple\nFlags Present?"}
RF2 --> EVAL{"Multiple\nFlags Present?"}
RF3 --> EVAL{"Multiple\nFlags Present?"}
EVAL -->|Yes| TEST["Order Genetic Testing\n(ES/GS)"]
EVAL -->|No| MONITOR["Continue Monitoring\nRe-evaluate if New Findings"]
TEST --> DX["Molecular Diagnosis\n31-59% yield"]
style TEST fill:#dcfce7,stroke:#16a34a,color:#14532d
style DX fill:#bbf7d0,stroke:#16a34a,color:#14532d
style MONITOR fill:#fef3c7,stroke:#d97706,color:#92400e
Screening Red Flags
Findings on routine screening that may indicate genetic etiology
- Critically ill child without clear acquired etiology
- Recurrent ICU admissions without diagnosis
- Multi-organ involvement in a child
Exome / Genome Sequencing Indications
Clinical scenarios supporting ES/GS as a diagnostic approach
- Critically ill child in PICU with suspected genetic etiology
- Acute presentation of suspected mitochondrial disorder
- Refractory cardiac failure in CICU with genetic suspicion
- Unexplained multi-organ failure in child
- Treatment-refractory epilepsy requiring ICU care
- Severe primary immunodeficiency with life-threatening infection
- Goals-of-care decision requiring definitive diagnosis
- Recurrent ICU admissions without established diagnosis
- Post-surgical complications suggesting unrecognized genetic syndrome
- Consideration for transplant requiring genetic characterization
Updated: 2026-02-25
Curated by: human
Status: human reviewed