Are critically ill babies put on an unnecessary diagnostic odyssey because of conventional medical protocols? A new study says yes.

Ordering genome sequencing for more critically ill babies in the NICU finds more answers.

In a recent study, when the families of all babies in a NICU whose symptoms weren’t explained by isolated medical complications were offered rapid genome sequencing, a genetic diagnosis was found for 49% of babies who received the testing. 

One of the big things the SeqFirst-Neo study seeks to understand is whether access to a genetic diagnosis is inequitable because of complex criteria around who qualifies for testing. Authors hypothesized that by broadening eligibility criteria, more babies will receive testing and, as a result, more babies will receive a diagnosis that impacts their care.

SeqFirst conducted a side-by-side analysis of conventional care versus rapid genome sequencing for diagnosing and treating critically ill infants.

Babies admitted to the NICU at Seattle Children’s Hospital with clinical findings that were not fully explained by prematurity, infection, or trauma were offered rapid genome sequencing: 

• 126 critically ill infants received GeneDx rapid genome sequencing.
• Genome sequencing results led to a diagnosis for about 50%.
• With conventional workflows, 26 of the diagnosed babies would not have been considered for genome sequencing.
• 19 out of those 26 infants (73%) had a direct change in treatment/management as a result of their diagnosis.
• These babies and their families would likely have endured a long search for answers—this type of diagnostic odyssey takes an average of 5 years—if they had not been part of the study.¹

Prior to genome sequencing, the infants’ symptoms were attributed to isolated birth defects, prematurity, complications from surgery, infection, a non-genetic medical problem, or trauma.

The study shows exclusion criteria are more likely to lead to a diagnosis–and are more equitable–than inclusion criteria. New guidelines are needed.

Currently, most hospitals use inclusion criteria to determine which infants need genome sequencing. The study demonstrates that determining which babies to test with genome sequencing by using exclusion criteria—testing all babies whose symptoms aren’t explained by prematurity, trauma, infection, prenatal diagnosis or other isolated medical complications—is more likely to lead to a diagnosis and avoid a lengthy diagnostic odyssey. This prioritizing of eligibility (rather than ineligibility) could also improve safety and increase equality.