Seqfirst-neo Study Highlights Impact of Genomic Testing in NICU, Exposing Gaps in Protocols
GeneDx (Nasdaq: WGS), a leading provider of genomic insights aimed at improving health outcomes, announced today that the American Journal of Human Genetics has published peer-reviewed research from the Seqfirst-neo study. This groundbreaking study, conducted in partnership with Seattle Children’s and the University of Washington, explores the use of rapid genomic sequencing (rGS) in Neonatal Intensive Care Unit (NICU) settings. The study focuses on enhancing access to genetic diagnoses, particularly in underserved communities, with the goal of reducing missed diagnoses and improving clinical outcomes for patients.
GeneDx (Nasdaq: WGS), a leader in genomic insights aimed at improving health outcomes, has announced the publication of findings from the pioneering Seqfirst-neo study in the American Journal of Human Genetics. This research, conducted in collaboration with Seattle Children’s and the University of Washington, introduces a revolutionary approach to genetic testing in Neonatal Intensive Care Units (NICUs). By utilizing exclusion rather than inclusion criteria, the study expands access to genomic testing for critically ill newborns, helping to reduce missed diagnoses and improve clinical outcomes.
Seqfirst-neo is the first study to apply exclusion criteria to determine which infants should receive genomic testing in NICU settings. This shift from traditional inclusion criteria—where testing is offered based on predefined conditions—sets a new standard of care. Under the new model, infants are eligible for rapid genomic sequencing (rGS) unless their clinical issues are fully explained by birth trauma, complications of prematurity, infection, or an existing genetic diagnosis. The results of the study show that this approach significantly increases the number of infants diagnosed, shortens the time to diagnosis, and ensures more equitable access to testing, especially for underserved populations.
Mike Bamshad, MD, FACMG, Professor of Pediatrics at the University of Washington School of Medicine and Clinical Genetics Division Chief at Seattle Children’s, stated, “There is a critical gap in our current approach to neonatal care – too many critically ill infants, particularly those from underrepresented populations, are not being offered genetic testing. This leads to missed diagnoses and missed opportunities for precision care. Our findings show that shifting to an exclusion-based model for genetic testing can significantly expand access, improve outcomes, and ensure more families receive the answers they need at critical times.”
Tara Wenger, MD, PhD, FACMG, Professor of Pediatrics at the University of Washington School of Medicine and Associate Medical Director of the Inpatient Service at Seattle Children’s, added, “Since implementing the exclusion-based approach, we’ve seen an increase in the number of infants diagnosed with genetic conditions at Seattle Children’s NICU.
By offering genetic testing early, we can make diagnoses before infants experience the complications of their genetic disorders, enabling neonatologists to introduce precise treatments as soon as possible.”
The study evaluated 408 infants in the NICU, with 59% meeting the eligibility criteria for rGS. Of those eligible, 126 infants received rGS as part of an interventional group (IG), while the others followed conventional diagnostic protocols. Among the infants in the IG, nearly half (49.2%) received a precise genetic diagnosis (PrGD), a much higher yield than the 9.7% observed in conventional care. The odds of receiving a PrGD in the IG were nine times higher than in conventional care.
Additionally, 42% of diagnosed infants would have been missed under standard NICU protocols, with 69% of those missed being non-white. This highlights the inequities of the current approach and emphasizes the importance of expanding access to genetic testing to ensure fairness in care. Furthermore, 24% of the diagnosed infants were not suspected to have a genetic condition based on electronic medical record (EMR) reviews and would not have been tested under standard protocols.
One of the most significant findings of the study is that the use of broad, exclusion-based criteria led to more equitable access to testing, particularly for non-white and Black infants. The study shows that expanding access to genetic testing can help address disparities in healthcare outcomes.
The study also found that the inclusion of a genetic diagnosis led to a change in clinical management for nearly 97% of diagnosed infants. This included influencing medical consultations, additional tests, medication adjustments, and better family health management.
Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx, emphasized, “With today’s reliable and rapid genomic technology, we can now deliver answers in a matter of days. More importantly, we now have clear and simple criteria to guide neonatologists on which infants should receive genomic screening in the NICU. Rapid genomic sequencing should become a standard part of NICU care to prevent missed diagnoses and ensure all infants receive the care they need.”
GeneDx is also a partner in the ongoing SeqFirst Developmental Differences (DDi) project, which focuses on providing early, equitable access to genetic diagnoses for children with atypical development by offering genome sequencing at the time of presentation, rather than after a staged evaluation process.
GeneDx has also introduced ultraRapid Whole Genome Sequencing, providing accelerated genomic insights for neonatal and pediatric patients in NICUs and PICUs in as little as 48 hours. The company has further expanded access to testing through its integration with Epic Aura, allowing health systems to offer fast and accurate genetic diagnoses.
GeneDx’s commitment to expanding access to genomic testing is evident through its involvement in groundbreaking research and the continued development of fast, accurate testing solutions. By utilizing one of the world’s largest rare disease data sets, GeneDx is making strides in ensuring that every patient receives the critical care they deserve.
About GeneDx:
GeneDx (Nasdaq: WGS) believes that everyone deserves personalized medical care, which begins with a genetic diagnosis. By leveraging its industry-leading exome and genome tests, GeneDx translates complex genomic data into clinical answers, enabling personalized health plans and accelerating drug discovery. The company’s solutions improve health system efficiencies and accelerate the path to treatment.
