GeneDx announces publication of research from Seqfirst-neo study

GeneDx (WGS) announced that the American Journal of Human Genetics published peer-reviewed research from the Seqfirst-neo study conducted in partnership with Seattle Children’s and the University of Washington. Seqfirst-neo is a pioneering study focused on the application of rGS in NICU settings to improve access to a genetic diagnosis overall and specifically in underserved communities to reduce missed diagnoses and improve clinical outcomes for patients. Seqfirst-neo is the first study to use exclusion, rather than inclusion, criteria for which infants should receive genomic testing in the NICU, setting a new standard of care by enabling neonatologists to more easily identify patients to receive testing, and expanding access to patients who previously would not have been offered testing. Infants were eligible to receive rGS unless their clinical findings were fully explained by birth/physical trauma, complications of prematurity, infection or a pre-existing precise genetic diagnosis. Findings from the study show that applying simple exclusion criteria significantly increase the number of infants in the NICU receiving a diagnosis, shorten the time to diagnosis, and drove more equitable access for diverse populations who otherwise would have not received testing. The findings further prove that expanding access to genetic testing dramatically increases the rate of a PrGD, enhances healthcare equity and reduces missed diagnoses. Seqfirst-neo’s findings suggest that at least 60% of Level IV NICU infants should be receiving rGS. With approximately 400,000 newborn admissions annually across 800 U.S. NICUs, tens of thousands of infants with genetic conditions are likely being undiagnosed due to lack of access to testing. Additional findings from the study. The study evaluated 408 infants in the NICU, of whom 59% met eligibility criteria for rGS. Of those eligible, 126 infants were enrolled in the interventional group and received rGS, while others followed current diagnostic workflow protocols. Nearly half of infants in the IG received a precise genetic diagnosis, an unexpectedly high yield despite broad testing criteria, compared to conventional care. The odds of receiving a PrGD was nine times higher in the IG compared to conventional care. 42% of diagnosed infants would have been missed using conventional NICU protocols, highlighting the limitations of current diagnostic approaches and the correlated inequity of care. 24% of diagnosed infants were not suspected of having a genetic condition based on EMR review and would not have been offered testing under standard care protocols. By using simple, broad exclusion criteria, the diagnostic yield and access to testing were comparable across racial groups, with significantly more non-white and Black infants receiving a PrGD than through conventional care, effectively mitigating racial disparities. Access to a PrGD led to a change in clinical management for nearly 97% of diagnosed infants, influencing medical consultations, additional testing, medication adjustments and family health implications.