GeneDx to Showcase Data from Largest Genomic Newborn Screening Cohort of 14,000 Newborns
GeneDx (Nasdaq: WGS), a leader in genomic insights, has conducted genomic newborn screenings (gNBS) for over 14,000 infants through research studies like GUARDIAN and Early Check. This positions GeneDx as a laboratory leader in revolutionizing newborn screening. The company's analysis shows that 21% of patients could have received diagnoses an average of 8 years earlier if gNBS had been available at birth.
Dr. Paul Kruszka, Chief Medical Officer at GeneDx, will present 'Lessons Learned: 14,000+ Infants Screened with Newborn Sequencing' at the International Conference on Newborn Sequencing (ICoNS). GeneDx's work in gNBS supports its vision of quick genetic disorder diagnosis to prevent disease progression and ensure healthier lives.
GeneDx (Nasdaq: WGS), un leader nelle intuizioni genomiche, ha condotto screening genomici alla nascita (gNBS) per oltre 14.000 neonati attraverso studi di ricerca come GUARDIAN e Early Check. Questo posiziona GeneDx come un laboratorio leader nella rivoluzione dello screening neonatale. L'analisi dell'azienda mostra che il 21% dei pazienti avrebbe potuto ricevere diagnosi in media 8 anni prima se il gNBS fosse stato disponibile alla nascita.
Il Dr. Paul Kruszka, Chief Medical Officer di GeneDx, presenterà 'Lezioni Apprese: oltre 14.000 neonati sottoposti a screening con il sequenziamento neonatale' alla Conferenza Internazionale sul Sequenziamento Neonatale (ICoNS). Il lavoro di GeneDx nel gNBS supporta la sua visione di una diagnosi rapida dei disturbi genetici per prevenire la progressione della malattia e garantire vite più sane.
GeneDx (Nasdaq: WGS), un líder en conocimientos genómicos, ha realizado cribados genómicos para recién nacidos (gNBS) en más de 14,000 infantes a través de estudios de investigación como GUARDIAN y Early Check. Esto posiciona a GeneDx como un líder de laboratorio en la revolución del cribado neonatal. El análisis de la compañía muestra que el 21% de los pacientes podría haber recibido diagnósticos un promedio de 8 años antes si el gNBS hubiera estado disponible al nacer.
El Dr. Paul Kruszka, Director Médico de GeneDx, presentará 'Lecciones Aprendidas: Más de 14,000 Infantes Cribados con Secuenciación Neonatal' en la Conferencia Internacional sobre Secuenciación Neonatal (ICoNS). El trabajo de GeneDx en gNBS apoya su visión de un diagnóstico rápido de trastornos genéticos para prevenir la progresión de enfermedades y asegurar vidas más saludables.
GeneDx (Nasdaq: WGS)는 유전체 통찰력의 선두주자로서 GUARDIAN 및 Early Check와 같은 연구를 통해 14,000명 이상의 신생아를 대상으로 유전체 신생아 검사(gNBS)를 수행했습니다. 이는 GeneDx를 신생아 선별 검사의 혁신적인 연구소로 자리매김하게 합니다. 회사의 분석에 따르면 환자의 21%가 gNBS가 태어날 때부터 가능했다면 평균 8년 더 일찍 진단을 받을 수 있었을 것입니다.
GeneDx의 최고 의료 책임자인 Paul Kruszka 박사는 국제 신생아 시퀀싱 회의(ICoNS)에서 '배운 교훈: 14,000명 이상의 신생아를 대상으로 한 신생아 시퀀싱'을 발표할 예정입니다. GeneDx의 gNBS 작업은 질병 진행을 예방하고 더 건강한 삶을 보장하기 위한 신속한 유전적 장애 진단이라는 비전을 지지합니다.
GeneDx (Nasdaq: WGS), un leader dans les insights génomiques, a réalisé des dépistages néonatals génomiques (gNBS) pour plus de 14 000 nourrissons à travers des études de recherche telles que GUARDIAN et Early Check. Cela positionne GeneDx comme un leader de laboratoire dans la révolution du dépistage néonatal. L'analyse de l'entreprise montre que 21 % des patients auraient pu recevoir un diagnostic en moyenne 8 ans plus tôt si le gNBS avait été disponible à la naissance.
Le Dr Paul Kruszka, directeur médical de GeneDx, présentera 'Leçons Apprises : Plus de 14 000 Nourrissons Dépistés par Séquençage Néonatal' lors de la Conférence Internationale sur le Séquençage Néonatal (ICoNS). Le travail de GeneDx dans le gNBS soutient sa vision d'un diagnostic rapide des troubles génétiques afin de prévenir la progression des maladies et de garantir des vies plus saines.
GeneDx (Nasdaq: WGS), ein führendes Unternehmen für genomische Erkenntnisse, hat genomische Neugeborenenscreenings (gNBS) für über 14.000 Säuglinge durchgeführt durch Forschungsstudien wie GUARDIAN und Early Check. Dies positioniert GeneDx als Laborführer in der Revolutionierung des Neugeborenenscreenings. Die Analyse des Unternehmens zeigt, dass 21 % der Patienten im Durchschnitt 8 Jahre früher Diagnosen erhalten hätten, wenn gNBS bei der Geburt verfügbar gewesen wäre.
Dr. Paul Kruszka, Chief Medical Officer von GeneDx, wird 'Gelerntes: Über 14.000 Säuglinge, die mit Neugeborenensequenzierung gescreent wurden' auf der Internationalen Konferenz zur Neugeborenensequenzierung (ICoNS) präsentieren. Die Arbeit von GeneDx im gNBS unterstützt die Vision des Unternehmens, genetische Störungen schnell zu diagnostizieren, um das Fortschreiten von Krankheiten zu verhindern und gesündere Leben zu gewährleisten.
- Conducted genomic newborn screenings for over 14,000 infants, positioning GeneDx as a leader in the field
- Analysis shows 21% of patients could receive diagnoses an average of 8 years earlier with gNBS
- Partnerships with prestigious institutions for GUARDIAN and Early Check studies
- Possesses a large database of over 700,000 exomes and genomes for robust variant interpretation
- None.
Insights
Data to be presented at the International Conference on Newborn Sequencing (ICoNS) highlighting lessons learned from the GUARDIAN and Early Check newborn sequencing studies showcasing GeneDx’s deep expertise as the leader for gNBS
Early diagnosis is critical to ensuring patients have the best chance at fighting the progression of disease. The broad availability of gNBS can significantly decrease time-to-diagnosis, which is particularly critical for diagnoses with actionable outcomes, including associated treatments and/or interventions. Through a retrospective analysis of its large database - currently more than 700,000 exomes and genomes - GeneDx looked to identify positive findings that would have been reported at birth had gNBS been available to patients as newborns. This analysis showed that greater than
As the lab behind industry moving research studies, including GUARDIAN (Genomic Uniform-screening Against Rare Diseases In All Newborns), which has served more than 10,000 infants, and its early involvement in Early Check, supporting 2,000 infants, GeneDx has a unique understanding of the complexities of offering gNBS at scale. Interpretation of gNBS is heavily dependent on having a robust and diverse database of clinically significant variants to reduce the burden of analysis. Additionally, expertise in technical evaluation and understanding sequencing data outputs are necessary to inform variant interpretation and deliver a more definitive diagnosis.
“GeneDx’s participation in GUARDIAN and Early Check allowed us to not only help end the diagnostic odyssey by delivering actionable diagnoses for hundreds of newborns before symptoms ever started, but also gave us the opportunity to showcase the power and impact of genomic newborn screening in this setting,” said Dr. Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “Over the past few years science and technology have allowed us to make remarkable strides that both lower costs and improve turnaround time that allows GeneDx to bring genomic newborn screening to families at scale today.”
GeneDx is proud to partner with Columbia University Irving Medical Center, New York-Presbyterian and the
Dr. Kruszka is set to present “Lessons Learned: 14,000+ Infants Screened with Newborn Sequencing1” at the International Conference on Newborn Sequencing (ICoNS) this week in
GeneDx’s ongoing work to support research within gNBS underscores the company’s vision for a world where any genetic disorder is diagnosed quickly to prevent disease progression and ensure long and healthy lives for all. As gNBS continues to advance, GeneDx remains dedicated to being at the forefront by harnessing genomic insights for early disease detection and one day ending the diagnostic odyssey.
For more information about GeneDx and our pioneering work in gNBS, visit genedx.com/newborn-screening.
About GeneDx:
GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world’s largest, rare disease data sets. For more information, please visit www.genedx.com and connect with us on LinkedIn, Facebook, and Instagram.
1 The findings and conclusions in this presentation are those of the authors and do not necessarily represent the views of the North Carolina Department of Health and Human Services, Division of Public Health |
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