Landmark Seqfirst-neo Study Showcases the Significant Impact of Genomic Testing in the NICU, Revealing Gaps in Current Protocols
GeneDx (Nasdaq: WGS) announced the publication of the Seqfirst-neo study results in the American Journal of Human Genetics, conducted with Seattle Children's and the University of Washington. The study introduces a new approach using exclusion criteria for rapid genome sequencing (rGS) in NICU settings, demonstrating that at least 60% of level IV NICU infants should receive rGS.
Key findings from the 408-infant study showed that 49.2% of infants in the interventional group received a precise genetic diagnosis (PrGD), compared to 9.7% in conventional care. The study revealed that 42% of diagnosed infants would have been missed using conventional protocols, with 69% being non-white. The new approach led to clinical management changes in nearly 97% of diagnosed cases.
GeneDx also announced the launch of ultraRapid Whole Genome Sequencing, offering results in as soon as 48 hours for NICU and PICU patients, and integration with Epic Aura to streamline genetic diagnoses delivery.
GeneDx (Nasdaq: WGS) ha annunciato la pubblicazione dei risultati dello studio Seqfirst-neo nell'American Journal of Human Genetics, condotto in collaborazione con Seattle Children's e l'Università di Washington. Lo studio introduce un nuovo approccio che utilizza criteri di esclusione per il sequenziamento genomico rapido (rGS) in contesti di terapia intensiva neonatale (NICU), dimostrando che almeno il 60% dei neonati in NICU di livello IV dovrebbe ricevere rGS.
I risultati chiave dello studio su 408 neonati hanno mostrato che il 49,2% dei neonati nel gruppo di intervento ha ricevuto una diagnosi genetica precisa (PrGD), rispetto al 9,7% nelle cure convenzionali. Lo studio ha rivelato che il 42% dei neonati diagnosticati sarebbe stato trascurato utilizzando protocolli convenzionali, con il 69% di essi non bianchi. Il nuovo approccio ha portato a cambiamenti nella gestione clinica in quasi il 97% dei casi diagnosticati.
GeneDx ha anche annunciato il lancio del sequenziamento genomico completo ultraRapido, che offre risultati in appena 48 ore per pazienti in NICU e PICU, e l'integrazione con Epic Aura per semplificare la consegna delle diagnosi genetiche.
GeneDx (Nasdaq: WGS) anunció la publicación de los resultados del estudio Seqfirst-neo en el American Journal of Human Genetics, realizado junto a Seattle Children's y la Universidad de Washington. El estudio introduce un nuevo enfoque que utiliza criterios de exclusión para el secuenciamiento genómico rápido (rGS) en entornos de unidad de cuidados intensivos neonatales (NICU), demostrando que al menos el 60% de los recién nacidos en NICU de nivel IV deberían recibir rGS.
Los hallazgos clave del estudio, que incluyó a 408 recién nacidos, mostraron que el 49.2% de los recién nacidos en el grupo de intervención recibió un diagnóstico genético preciso (PrGD), en comparación con el 9.7% en la atención convencional. El estudio reveló que el 42% de los recién nacidos diagnosticados habría sido pasado por alto utilizando protocolos convencionales, siendo el 69% de ellos no blancos. El nuevo enfoque condujo a cambios en la gestión clínica en casi el 97% de los casos diagnosticados.
GeneDx también anunció el lanzamiento de la secuenciación genómica completa ultraRápida, ofreciendo resultados en tan solo 48 horas para pacientes en NICU y PICU, y la integración con Epic Aura para agilizar la entrega de diagnósticos genéticos.
GeneDx (Nasdaq: WGS)는 Seattle Children's 및 워싱턴 대학교와 공동으로 수행한 Seqfirst-neo 연구 결과를 미국 인간 유전학 저널에 발표했습니다. 이 연구는 NICU 환경에서 빠른 유전체 시퀀싱(rGS)을 위한 배제 기준을 사용하는 새로운 접근 방식을 도입하여 IV 등급 NICU 유아의 최소 60%가 rGS를 받아야 한다는 것을 보여주었습니다.
408명의 유아를 대상으로 한 연구의 주요 발견은 개입 그룹의 49.2%가 정확한 유전 진단(PrGD)을 받았다는 것이며, 이는 기존 치료의 9.7%에 비해 높은 수치입니다. 연구는 진단된 유아의 42%가 기존 프로토콜을 사용했을 경우 간과되었을 것이라고 밝혔으며, 이 중 69%는 비백인이었습니다. 새로운 접근 방식은 거의 97%의 진단 사례에서 임상 관리 변화를 이끌어냈습니다.
GeneDx는 또한 NICU 및 PICU 환자를 위해 48시간 이내에 결과를 제공하는 초신속 전체 유전체 시퀀싱의 출시를 발표했으며, 유전 진단 전달을 간소화하기 위해 Epic Aura와의 통합을 진행했습니다.
GeneDx (Nasdaq: WGS) a annoncé la publication des résultats de l'étude Seqfirst-neo dans l'American Journal of Human Genetics, réalisée en collaboration avec Seattle Children's et l'Université de Washington. L'étude introduit une nouvelle approche utilisant des critères d'exclusion pour le séquençage génomique rapide (rGS) dans les unités de soins intensifs néonatals (NICU), démontrant que au moins 60% des nourrissons en NICU de niveau IV devraient recevoir rGS.
Les résultats clés de l'étude portant sur 408 nourrissons ont montré que 49,2% des nourrissons du groupe d'intervention ont reçu un diagnostic génétique précis (PrGD), contre 9,7% dans les soins conventionnels. L'étude a révélé que 42% des nourrissons diagnostiqués auraient été manqués en utilisant des protocoles conventionnels, dont 69% étaient non blancs. La nouvelle approche a entraîné des changements dans la gestion clinique dans près de 97% des cas diagnostiqués.
GeneDx a également annoncé le lancement du séquençage génomique complet ultraRapide, offrant des résultats en seulement 48 heures pour les patients en NICU et PICU, ainsi qu'une intégration avec Epic Aura pour rationaliser la livraison des diagnostics génétiques.
GeneDx (Nasdaq: WGS) gab die Veröffentlichung der Ergebnisse der Seqfirst-neo-Studie im American Journal of Human Genetics bekannt, die in Zusammenarbeit mit Seattle Children's und der Universität von Washington durchgeführt wurde. Die Studie führt einen neuen Ansatz ein, der Ausschlusskriterien für die schnelle Genomsequenzierung (rGS) in NICU-Umgebungen verwendet und zeigt, dass mindestens 60% der Säuglinge in der NICU der Stufe IV rGS erhalten sollten.
Die wichtigsten Ergebnisse der Studie mit 408 Säuglingen zeigten, dass 49,2% der Säuglinge in der Interventionsgruppe eine präzise genetische Diagnose (PrGD) erhielten, verglichen mit 9,7% in der konventionellen Versorgung. Die Studie ergab, dass 42% der diagnostizierten Säuglinge mit herkömmlichen Protokollen übersehen worden wären, wobei 69% nicht-weiß waren. Der neue Ansatz führte in fast 97% der diagnostizierten Fälle zu Änderungen im klinischen Management.
GeneDx kündigte außerdem die Einführung der ultraRapid Whole Genome Sequencing an, die Ergebnisse in nur 48 Stunden für NICU- und PICU-Patienten bietet, sowie die Integration mit Epic Aura zur Optimierung der Bereitstellung genetischer Diagnosen.
- 49.2% diagnostic yield in intervention group vs 9.7% in conventional care
- 97% of diagnosed cases led to clinical management changes
- Integration with Epic Aura platform to accelerate diagnosis delivery
- New 48-hour ultraRapid Whole Genome Sequencing service launch
- Study publication in prestigious American Journal of Human Genetics
- None.
Insights
The Seqfirst-neo study represents a transformative shift in NICU genetic testing protocols that could significantly expand GeneDx's market opportunity. With approximately 400,000 annual NICU admissions across 800 U.S. facilities and findings suggesting 60% of Level IV NICU infants should receive rapid genome sequencing, the addressable market is substantially larger than current testing volumes indicate.
The study's revolutionary exclusion-based approach, yielding a 49.2% diagnostic rate compared to just 9.7% in conventional care, demonstrates the vast underutilization of genetic testing in critical care settings. This represents a significant commercial opportunity, particularly as the research shows that 97% of diagnosed cases led to changes in clinical management, providing clear evidence of clinical utility that could support insurance coverage and reimbursement.
GeneDx's strategic positioning is further strengthened by two key competitive advantages:
- Integration with Epic Aura, facilitating seamless adoption across major health systems
- ultraRapid Whole Genome Sequencing capability delivering results in as fast as 48 hours
The company's extensive database of over 750,000 exomes and genomes provides a robust foundation for accurate diagnoses, while the demonstrated ability to reduce racial disparities in testing access could make GeneDx an attractive partner for healthcare systems focused on equity initiatives. The potential for widespread protocol adoption, combined with these competitive advantages, positions GeneDx to capture a significant share of this expanding market.
Findings published in the American Journal of Human Genetics reveals widespread use of rapid genome sequencing (rGS) demonstrates that more critically ill infants should be tested to reduce missed genetic conditions and promote equitable care for infants at their most critical stage
At least
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 (PrGD). 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.
“There is a critical gap in our current approach to neonatal care – too many critically ill infants and newborns, particularly from underrepresented populations are not being offered genetic testing leading to missed diagnoses and opportunities for precision care,” 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. “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.”
“Seqfirst-neo’s findings have had a major impact on the way we deliver genetics services in the inpatient setting. Since implementing exclusion-based identification, we are diagnosing more infants than ever before with genetic conditions in the Seattle Children’s Hospital NICU,” said 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. “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.”
Seqfirst-neo’s findings suggest that at least
Additional findings from the study:
The study evaluated 408 infants in the NICU, of whom
-
Nearly half (
49.2% ) of infants in the IG received a precise genetic diagnosis (PrGD) — an unexpectedly high yield despite broad testing criteria, compared to conventional care (9.7% ). 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 (69% of whom were non-white), 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.
“With today’s reliable and rapid genomic technology, we can now deliver answers in days. More importantly, we finally have clear, simple criteria to guide neonatologists in determining which infants should receive genomic screening in the NICU,” said Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “There is an urgent need to make rapid genome sequencing (rGS) a standard part of NICU care to prevent missed diagnoses and ensure every infant gets the critical care they deserve. By expanding access, we can dramatically improve early detection of genetic conditions, enabling timely interventions and driving more equitable care for all infants.”
GeneDx is a proud collaborator of SeqFirst and their on-going research, as the clinical lab behind both the Seqfirst-neo and SeqFirst Developmental Differences (DDi) projects. Seqfirst-neo focuses on evaluating whether a genotype-driven workflow, using broad and simple exclusion criteria for eligibility, enhances access to a PrGD in critically ill newborns. SeqFirst DDi aims to promote early and equitable access to PrGD for children with atypical development by offering genome sequencing at the time of presentation, rather than after a traditional staged evaluation and testing process.
Accelerating care in the NICU:
GeneDx recently announced ultraRapid Whole Genome Sequencing, offering accelerated and comprehensive genomic insights for neonatal and pediatric patients in the NICU and PICU in as soon as 48 hours. As part of the company’s commitment to increasing access to genomic testing, GeneDx also recently integrated with Epic Aura, enabling health systems to deliver fast and accurate genetic diagnoses to patients and accelerate the path to treatment. By driving collaborative research that informs utilization protocols, continuing to decrease turnaround times, and expanding access to testing, more patients can benefit from GeneDx’s genomic insights of over 750,000 exomes and genomes and increase the likelihood of obtaining definitive diagnoses.
About GeneDx:
At GeneDx (Nasdaq: WGS), we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world’s largest rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies. For more information, please visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.
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Source: GeneDx
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