Key Takeaways
- Rapid genome sequencing identified genetic diagnoses in 49% of critically ill infants in the SeqFirst-Neo NICU study.
- Conventional testing protocols may prevent many babies from receiving genome sequencing that could lead to a diagnosis.
- Broadening eligibility criteria for testing could help more infants receive answers sooner.
- Earlier genetic diagnoses can directly influence treatment decisions and care management.
What the SeqFirst-Neo NICU Study Found About Rapid Genome Sequencing
Researchers from the University of Washington shared findings from the SeqFirst-Neo study at the 2024 annual meeting of the American Society of Human Genetics (ASHG).
The study explored whether expanding access to genome sequencing in the neonatal intensive care unit (NICU) could help diagnose more critically ill infants.
In the study, families of babies admitted to the NICU whose symptoms could not be fully explained by isolated medical complications were offered rapid genome sequencing.
Clinicians interested in when genomic testing may be appropriate can explore genetic testing considerations for critically ill infants in the NICU.
Among infants who received testing, researchers identified a genetic diagnosis in 49% of cases.
Expanding Testing Eligibility May Improve Diagnosis Rates
One of the central questions of the SeqFirst-Neo study was whether complex clinical criteria limit which infants are offered genome sequencing.
Researchers hypothesized that broadening eligibility criteria could lead to more diagnoses and improve equity in access to genetic testing.
To investigate this, the study conducted a side-by-side comparison between conventional diagnostic workflows and rapid genome sequencing for critically ill infants.
Babies admitted to the NICU at Seattle Children’s Hospital with clinical findings not fully explained by prematurity, infection, trauma, or other isolated complications were offered genome sequencing.
Key results included:
- 126 critically ill infants received GeneDx rapid genome sequencing
- Approximately half received a genetic diagnosis
- 26 of the diagnosed infants would not have qualified for genome sequencing under conventional criteria
Genetic Diagnoses Changed Medical Care for Many Infants
The study also evaluated how genetic diagnoses influenced treatment and care management.
Among the 26 infants who would not have qualified for genome sequencing under traditional criteria:
- 19 infants (73%) experienced a direct change in treatment or medical management as a result of the genetic diagnosis.
Without access to genome sequencing through the study, many of these families may have faced a lengthy search for answers. The average rare disease diagnostic journey can take four to five years.
Before sequencing, many infants’ symptoms were attributed to factors such as prematurity, infection, surgical complications, trauma, or non-genetic conditions.
Learn how exome sequencing can help identify genetic conditions.
Rethinking How NICUs Decide Who Should Receive Genome Sequencing
Most hospitals currently use inclusion criteria to determine which infants should receive genome sequencing.
The SeqFirst-Neo findings suggest a different approach may be more effective.
Instead of identifying specific symptoms that qualify infants for testing, clinicians could consider using exclusion criteria—testing infants whose symptoms cannot be explained by prematurity, trauma, infection, or prenatal diagnosis.
Many NICU teams are now evaluating genomic testing strategies for critically ill newborns as part of broader diagnostic protocols.
This approach may:
• Increase diagnostic rates
• Improve equity in access to genetic testing
• Reduce the likelihood of long diagnostic journeys for families
Because critically ill infants often present with complex or overlapping symptoms, broader testing eligibility may help clinicians identify the underlying genetic causes earlier.
