GeneDx Announces ultraRapid Whole Genome Sequencing, Delivering Actionable Results in as soon as 48 Hours to Inform Care for Critically Ill NICU and PICU Patients
GeneDx (WGS) has announced the launch of ultraRapid Whole Genome Sequencing, delivering genomic insights for NICU and PICU patients in as fast as 48 hours. This accelerated testing addresses the critical underutilization of genetic testing in NICUs, where up to 25% of patients likely have genetic disorders, yet less than 5% undergo testing.
The service, available for ordering in March through the GeneDx portal and Epic Aura integration, can lead to healthcare savings exceeding $15,000 per child by reducing unnecessary treatments and shortening NICU stays. Without genetic diagnosis, NICU stays are typically 15-20 days longer. The company's advanced technology and experience in sequencing over 750,000 exomes and genomes enables efficient testing at scale.
Genetic diseases are the leading identifiable cause of infant death, and genetic diagnosis can impact clinical management for more than 60% of critically ill infants.
GeneDx (WGS) ha annunciato il lancio del sequenziamento dell'intero genoma ultraRapido, fornendo informazioni genomiche per i pazienti in NICU e PICU in tempi rapidi, fino a 48 ore. Questo test accelerato affronta la critica sottoutilizzazione dei test genetici nelle NICU, dove fino al 25% dei pazienti potrebbe avere disturbi genetici, ma meno del 5% viene sottoposto a test.
Il servizio, disponibile per l'ordinazione a marzo tramite il portale GeneDx e l'integrazione Epic Aura, può portare a risparmi sanitari superiori a 15.000 dollari per bambino riducendo trattamenti non necessari e accorciando i soggiorni in NICU. Senza una diagnosi genetica, i soggiorni in NICU sono tipicamente 15-20 giorni più lunghi. La tecnologia avanzata dell'azienda e l'esperienza nel sequenziamento di oltre 750.000 esomi e genomi consentono test efficienti su larga scala.
Le malattie genetiche sono la principale causa identificabile di morte infantile, e una diagnosi genetica può influenzare la gestione clinica per oltre il 60% dei neonati gravemente malati.
GeneDx (WGS) ha anunciado el lanzamiento de la secuenciación del genoma completo ultraRápido, proporcionando información genómica para pacientes en NICU y PICU en tan solo 48 horas. Esta prueba acelerada aborda la crítica subutilización de las pruebas genéticas en las NICU, donde hasta el 25% de los pacientes probablemente tenga trastornos genéticos, pero menos del 5% se somete a pruebas.
El servicio, disponible para ordenar en marzo a través del portal GeneDx y la integración de Epic Aura, puede generar ahorros en salud que superan los 15,000 dólares por niño al reducir tratamientos innecesarios y acortar las estancias en NICU. Sin un diagnóstico genético, las estancias en NICU suelen ser 15-20 días más largas. La tecnología avanzada de la empresa y su experiencia en la secuenciación de más de 750,000 exomas y genomas permiten realizar pruebas eficientes a gran escala.
Las enfermedades genéticas son la principal causa identificable de muerte infantil, y un diagnóstico genético puede impactar la gestión clínica de más del 60% de los recién nacidos gravemente enfermos.
GeneDx (WGS)는 NICU 및 PICU 환자를 위한 초고속 전체 유전체 시퀀싱 출시를 발표하며, 48시간 이내에 유전체 정보를 제공한다고 밝혔습니다. 이 가속화된 검사는 최대 25%의 환자가 유전적 질환을 가질 가능성이 있지만, 5% 미만만이 검사를 받는 NICU에서 유전자 검사 활용이 부족하다는 문제를 해결합니다.
이 서비스는 3월부터 GeneDx 포털과 Epic Aura 통합을 통해 주문할 수 있으며, 어린이 한 명당 15,000달러를 초과하는 의료비 절감으로 이어질 수 있습니다. 이는 불필요한 치료를 줄이고 NICU 입원 기간을 단축하는 데 기여합니다. 유전적 진단이 없는 경우 NICU 입원 기간은 일반적으로 15-20일 더 길어집니다. 이 회사의 첨단 기술과 750,000개 이상의 엑솜 및 게놈을 시퀀싱한 경험은 대규모 효율적인 검사를 가능하게 합니다.
유전병은 영아 사망의 주요 식별 가능한 원인이며, 유전적 진단은 60% 이상의 중증 아기들에게 임상 관리에 영향을 미칠 수 있습니다.
GeneDx (WGS) a annoncé le lancement de la séquençage du génome entier ultraRapide, fournissant des informations génomiques pour les patients en NICU et PICU en aussi peu que 48 heures. Ce test accéléré aborde la sous-utilisation critique des tests génétiques dans les NICU, où jusqu'à 25 % des patients pourraient avoir des troubles génétiques, mais moins de 5 % subissent des tests.
Le service, disponible à la commande en mars via le portail GeneDx et l'intégration Epic Aura, peut entraîner des économies de santé dépassant 15 000 dollars par enfant en réduisant les traitements inutiles et en raccourcissant les séjours en NICU. Sans diagnostic génétique, les séjours en NICU sont généralement 15 à 20 jours plus longs. La technologie avancée de l'entreprise et son expérience dans le séquençage de plus de 750 000 exomes et génomes permettent des tests efficaces à grande échelle.
Les maladies génétiques sont la principale cause identifiable de décès infantile, et un diagnostic génétique peut avoir un impact sur la gestion clinique de plus de 60 % des nourrissons gravement malades.
GeneDx (WGS) hat die Einführung der ultraRapid Whole Genome Sequencing angekündigt, die genomische Erkenntnisse für Patienten in der NICU und PICU in nur 48 Stunden liefert. Dieser beschleunigte Test adressiert die kritische Unterausnutzung genetischer Tests in NICUs, wo bis zu 25 % der Patienten wahrscheinlich genetische Störungen haben, aber weniger als 5 % getestet werden.
Der Dienst, der ab März über das GeneDx-Portal und die Integration von Epic Aura bestellbar ist, kann zu Gesundheitskostenersparnissen von über 15.000 Dollar pro Kind führen, indem unnötige Behandlungen reduziert und die Aufenthaltsdauer in der NICU verkürzt wird. Ohne genetische Diagnose sind die Aufenthalte in der NICU typischerweise 15-20 Tage länger. Die fortschrittliche Technologie des Unternehmens und die Erfahrung in der Sequenzierung von über 750.000 Exomen und Genomen ermöglichen effiziente Tests in großem Maßstab.
Genetische Erkrankungen sind die häufigste identifizierbare Ursache für den Tod von Säuglingen, und eine genetische Diagnose kann das klinische Management von mehr als 60 % der schwer kranken Säuglinge beeinflussen.
- Potential healthcare savings of over $15,000 per child tested
- Can reduce NICU stays by 15-20 days
- Can impact clinical management for over 60% of critically ill infants
- Integration with Epic Aura platform expanding accessibility
- Extensive experience with 750,000+ exomes and genomes sequenced
- None.
Insights
GeneDx's ultraRapid Whole Genome Sequencing launch represents a pivotal development in the $21.7 billion global genetic testing market. The 48-hour turnaround time is particularly significant when considering that genetic diseases are the leading identifiable cause of infant mortality. The potential to reduce NICU stays by 15-20 days translates to substantial cost savings, with
The market opportunity is compelling: with
The integration with Epic Aura is strategically crucial, as it reduces barriers to adoption and positions GeneDx to capture market share through streamlined workflow integration. The company's database of 750,000+ exomes and genomes provides a competitive moat, enabling more accurate interpretations and potentially higher diagnostic yields than competitors.
The automation and optimization of lab processes suggest improving operational efficiency and scalability, which could lead to higher margins as volume increases. This is particularly important in the competitive genetic testing landscape where cost pressures are significant.
The March 2024 launch timing is optimal, allowing healthcare systems to budget for implementation in the next fiscal year. The emphasis on healthcare savings aligns well with value-based care initiatives, potentially accelerating insurance coverage and adoption rates.
ultraRapid testing addresses the underutilization of testing in the NICU and can lead to more than
ultraRapid genome testing delivers a faster diagnosis, providing clinically actionable results and the opportunity to shorten a NICU stay. Genetic diseases are the most common identifiable cause of infant death, and for every baby who fails to receive a genetic diagnosis, their NICU stay is likely to be 15 to 20 days longer.1,2 Additionally, ultraRapid genomic sequencing can drive increased healthcare savings by reducing unnecessary medical treatments and accelerating answers for patients and providers, transforming care when every moment counts. A genetic diagnosis has the potential to impact clinical management for more than
“Offering an ultraRapid genome is a testament to GeneDx’s commitment to shorten, and hopefully one day eliminate, the diagnostic odyssey for patients and their families,” said Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “GeneDx’s ultraRapid genome will deliver critical information to patients, providers and families at times when they need it most. Countless studies cite the benefits of an earlier diagnosis in children with genetic disease, and while we continue to invest in the ability to accelerate and improve access to testing, it is incumbent upon clinicians, health systems, policy makers and payors, to recognize the benefits of this testing and offer it to more patients.”
Today up to
Through GeneDx’s advanced technology and unmatched experience sequencing more than 750,000 exomes and genomes, the lab continues to improve its ability to offer genetic testing at scale. GeneDx has optimized and automated various lab processes enabling more efficient sequencing, analyzation and interpretation. These efficiencies combined with one of the already largest and most diverse datasets, allows GeneDx to reduce the cost of testing and deliver a rapidly accelerated speed to diagnosis.
The GeneDx’s ultraRapid Genome will be available to order in March and is an addition to the Company’s test menu of comprehensive genomics offerings including its exome, genome and rapid genome.
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.
1. Owen MJ, Wright, MS, Batalov S, et al. Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing. JAMA Netw Open. 2023 Feb 1;6(2):e2254069. doi: 10.1001/jamanetworkopen.2022.54069 |
2. Dimmock D, Caylor S, Waldman B, et al. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care. Am J Hum Genet. 2021 Jul 1;108(7):1231-1238. doi:10.1016/j.ajhg.2021.05.008. Epub 2021 Jun 4. |
3. Kingsmore SF, Cakici JA, Clark MM, et al. Am J Hum Genet. 2019 Oct 3;105(4):719-733. doi:10.1016/j.ajhg.2019.08.009. |
4. Kingsmore SF, Nofsinger R, Ellsworth K. Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review. NPJ Genom Med. 2024 Feb 27;9(1):17. doi: 10.1038/s41525-024-00404-0. |
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Source: GeneDx
FAQ
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