Neonatal critical care
Rapid genome sequencing in the NICU
In the NICU, infants often present with complex symptoms without a clear diagnosis – critical care decisions cannot wait. Rapid and ultraRapid genome sequencing from GeneDx helps clinicians uncover genetic diagnoses faster to support earlier, informed care decisions.
Faster answers when every moment matters
Genetic conditions are a leading contributor to NICU admissions, but are not always identifiable based on clinical features alone.1-3 Access to rapid comprehensive genetic testing is often restricted or delayed4 — resulting in missed opportunities to reach a diagnosis sooner.
Fewer than 1 in 20 patients who could benefit currently receive rapid genomic sequencing5
Earlier genomic insights can change the course of care
Rapid and ultraRapid genome sequencing has been shown to support earlier diagnosis and informed clinical decision-making in critically ill infants.
Rapid genome sequencing changed clinical management in up to 87% of infants in a Level IV NICU6
Earlier genetic diagnosis can shorten NICU length of stay by up to 20 days7
Rapid genome sequencing as a first-line test has been associated with cost savings of up to $15,786 per patient7
When should genetic testing be ordered in the NICU?
Approaches for initiating rapid genomic testing can vary across NICU settings. Evidence informed testing models can help support earlier identification of infants who may benefit from testing.
Inclusion-based protocols
- Hypotonia
- Seizure activity of unknown origin
- Congenital anomalies
- Cardiac symptoms with unknown cause
- Unexplained respiratory failure
- Dysmorphic features not consistent with a known syndrome
- Severe metabolic acidosis
- Disorders of sex development
- Suspicion of mitochondrial disease
- Immunodeficiency
Exclusion-based protocols
- Infants were up to 9x more likely to receive a genetic diagnosis6
- 42% of diagnosed infants would have been missed with conventional workflows6
Rapid and ultraRapid genome sequencing designed for urgent clinical decisions
It also screens for repeat expansion disorders associated with the following genes:
Rapid testing options
Genome is recommended as a first-line test
- The International Precision Child Health Partnership (IPCHiP) recommends genome or exome as a first-line test for NICU patients with unexplained hypotonia.7
- 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 orexome 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 tests for children with global developmental delays and intellectual disabilities. 10
Learn more about whole genome sequencing and whole exome sequencing.
Supporting confident, family-centered decisions
Rapid genome sequencing is recommended and supports family-centered care by helping clinicians engage families in informed care decisions.
of parents reported value in genomic sequencing when a diagnosis is unclear11, and studies have shown it can reduce parental anxiety12,13
of neonatologists value a genetic diagnosis12, and three-quarters of clinicians find genomic sequencing clinically useful regardless of test result14
NICU case studies: Real-world diagnostic impact
GeneDx Infinity™— the world’s largest rare disease dataset— is changing what’s possible in rare disease care. Shaped by the data of real people and real cases, it helps us see more clearly, diagnose more confidently, and discover insights that lead to better answers for more families.
Meet Layla
Layla was born with a bowel obstruction that required two emergency surgeries in her first weeks of life. Considered as a typical short-bowel patient, Layla didn’t respond to treatment as expected. Fortunately, her care team used GeneDx rapid genome sequencing to uncover TTC7A deficiency, a rare condition that affects both the intestines and the immune system. Learn how her treatment drastically changed—helping Layla not just survive, but thrive.
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Your trusted partner for NICU genomic testing
Trusted by more than 75,000 health care providers worldwide.16 We offer seamless integration into NICU workflows, so care teams can act quickly when timing is critical.
Helpful resources
NICU Rapid Genome Huddle Sheet
A quick bedside reference designed to help care teams identify infants in the NICU who may benefit from rapid genome sequencing and support testing discussions during everyday workflows.
When every minute matters: ultraRapid genome testing
Explore how ultraRapid genome testing can support earlier genomic insights in time-sensitive NICU settings, including the added value of parental context in critical care decision-making.
Advancing Neonatal Care Through Rapid Genome Sequencing
Learn how rapid genomic sequencing isshaping clinical decision-making andimproving outcomes in the NICU.
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.
Whether you’re a healthcare provider, patient, family member, or biopharma partner, GeneDx is here to support your next step.