Genomic Testing in NICU Reduces Missed Diagnoses

A study published in the American Journal of Human Genetics now highlights how the broad adoption of rapid genome sequencing (rGS) reveals that more critically ill infants should undergo testing to minimize undetected genetic conditions and support equitable care at a time when these patients are most vulnerable.

The study, called Seqfirst-neo, was conducted through a collaboration between Seattle Children’s (Seattle, WA, USA) and the University of Washington (Seattle, WA, USA). It investigated how the use of rGS in neonatal intensive care units (NICUs) can enhance diagnostic access, particularly for underrepresented groups, to reduce undiagnosed cases and improve patient outcomes. Infants qualified for rGS unless their condition was fully explained by birth or physical trauma, prematurity-related complications, infection, or if they already had a clear pre-existing genetic diagnosis (PrGD). Out of 408 NICU infants reviewed, 59% were deemed eligible for rGS. Among these, 126 infants were placed in the interventional group (IG) and received rGS, while the remainder continued with the standard diagnostic approach. According to Seqfirst-neo’s results, at least 60% of infants in Level IV NICUs should be undergoing rGS. With roughly 400,000 NICU admissions each year across 800 NICUs in the U.S., many thousands of infants with genetic disorders are likely going undiagnosed due to insufficient testing access.

The study demonstrates that using basic exclusion criteria can greatly boost the number of NICU infants who receive diagnoses, speed up time to diagnosis, and improve access for diverse populations who might otherwise miss testing opportunities. These findings strongly support that wider access to genetic testing leads to significantly higher rates of PrGD, advances healthcare equity, and reduces missed diagnoses. Notably, Seqfirst-neo is the first study to employ exclusion—rather than inclusion—criteria to determine which infants in the NICU should receive genomic testing. This strategy marks a shift in clinical practice, enabling neonatologists to more easily identify candidates for testing and expand access to infants who previously would have been excluded.

“Our findings showcase that by shifting today’s standard of care to an exclusion-based model for genomic testing, we can significantly expand access, improve health outcomes, and ensure that more families receive the answers they need at the most critical times,” said Mike Bamshad, MD, FACMG, Professor of Pediatrics at the University of Washington School of Medicine and Clinical Genetics Division Chief at Seattle Children’s.

“By offering genetic testing at the first unexplained issue in critically ill newborns, we have an opportunity to make diagnoses before they are old enough to experience many of the complications of their genetic disorder. This allows neonatologists and other health care providers the opportunity to introduce the most precise treatments as early as possible,” added Tara Wenger, MD, PhD, FACMG, Professor of Pediatrics at the University of Washington School of Medicine and Associate Medical Director, Inpatient Service at Seattle Children’s.

Related Links:
Seattle Children’s
University of Washington