GeneDx Introduces New Telehealth Pathway to Expand Access to Exome Testing for Parents Seeking Answers
GeneDx (WGS) has announced a new telehealth pathway to expand access to genetic testing services, specifically focusing on exome testing for families seeking diagnoses. The initiative aims to reduce the current 4-5 year average diagnostic timeline for rare diseases by connecting parents directly with genetic experts.
The company highlights that children with neurodevelopmental disorders typically incur over $10,000 in additional health costs and undergo more than 5 uninformative tests during their diagnostic journey. Through this new telehealth service, parents can schedule testing, appointments, and potentially receive a diagnosis in as soon as five weeks by visiting GeneDx.com/get-exome.
The company is partnering with a leading telehealth genetics provider to streamline the referral process. This initiative addresses increasing wait times for medical genetics and developmental/behavioral pediatricians, which have grown significantly over the past three years.
GeneDx (WGS) ha annunciato un nuovo percorso di telemedicina per ampliare l'accesso ai servizi di test genetici, con un focus specifico sul test dell'esoma per le famiglie in cerca di diagnosi. L'iniziativa mira a ridurre l'attuale tempo medio di diagnosi di 4-5 anni per le malattie rare, collegando direttamente i genitori con esperti genetici.
L'azienda sottolinea che i bambini con disturbi neuro-sviluppativi sostengono in genere oltre $10,000 di costi sanitari aggiuntivi e subiscono più di 5 test non informativi durante il loro percorso diagnostico. Grazie a questo nuovo servizio di telemedicina, i genitori possono programmare test, appuntamenti e potenzialmente ricevere una diagnosi in appena cinque settimane visitando GeneDx.com/get-exome.
L'azienda sta collaborando con un importante fornitore di genetica telematica per semplificare il processo di referenza. Questa iniziativa affronta i tempi di attesa in aumento per la genetica medica e per i pediatri dello sviluppo/comportamentali, che sono cresciuti in modo significativo negli ultimi tre anni.
GeneDx (WGS) ha anunciado una nueva vía de telemedicina para ampliar el acceso a los servicios de pruebas genéticas, enfocándose específicamente en las pruebas de exoma para familias que buscan diagnósticos. La iniciativa tiene como objetivo reducir el actual tiempo promedio de diagnóstico de 4-5 años para enfermedades raras, conectando a los padres directamente con expertos en genética.
La compañía destaca que los niños con trastornos del neurodesarrollo suelen incurrir en más de $10,000 en costos de salud adicionales y se someten a más de 5 pruebas no informativas durante su trayectoria diagnóstica. A través de este nuevo servicio de telemedicina, los padres pueden programar pruebas, citas y potencialmente recibir un diagnóstico en tan solo cinco semanas visitando GeneDx.com/get-exome.
La empresa está asociándose con un proveedor líder de genética telemática para agilizar el proceso de derivación. Esta iniciativa aborda el aumento de los tiempos de espera para la genética médica y pediatras del desarrollo/comportamentales, que han crecido significativamente en los últimos tres años.
GeneDx (WGS)는 유전자 검사 서비스에 대한 접근을 확대하기 위해 새로운 원격의료 경로를 발표했습니다. 특히 진단을 찾는 가족을 위한 엑소좀 검사에 중점을 둡니다. 이 이니셔티브는 희귀 질환에 대한 현재 평균 4-5년 진단 시간을 줄이는 것을 목표로 하여 부모들을 유전자 전문가와 직접 연결합니다.
회사는 신경 발달 장애가 있는 어린이들이 일반적으로 추가 건강 비용으로 $10,000 이상을 지출하고 진단 여정 중 5회 이상의 정보 없는 검사를 받는다고 강조합니다. 이 새로운 원격의료 서비스를 통해 부모는 GeneDx.com/get-exome을 방문하여 검사, 예약을 일정하고 잠재적으로 5주 만에 진단을 받을 수 있습니다.
회사는 추천 프로세스를 간소화하기 위해 선도적인 원격의료 유전자 제공업체와 협력하고 있습니다. 이 이니셔티브는 지난 3년간 크게 증가한 의료 유전학 및 발달/행동 소아과 의사에 대한 대기 시간을 해결합니다.
GeneDx (WGS) a annoncé un nouveau parcours de télémédecine pour élargir l'accès aux services de tests génétiques, en se concentrant spécifiquement sur les tests de l'exome pour les familles cherchant des diagnostics. L'initiative vise à réduire le délai moyen de diagnostic actuel de 4-5 ans pour les maladies rares en connectant directement les parents avec des experts génétiques.
L'entreprise souligne que les enfants atteints de troubles neurodéveloppementaux encourent généralement plus de $10 000 de coûts de santé supplémentaires et subissent plus de 5 tests non informatifs durant leur parcours diagnostique. Grâce à ce nouveau service de télémédecine, les parents peuvent planifier des tests, des rendez-vous et potentiellement recevoir un diagnostic en seulement cinq semaines en visitant GeneDx.com/get-exome.
L'entreprise s'associe à un fournisseur de génétique télémédicale de premier plan pour simplifier le processus de référence. Cette initiative vise à réduire les délais d'attente croissants pour les généticiens médicaux et les pédiatres en développement/comportement, qui ont considérablement augmenté au cours des trois dernières années.
GeneDx (WGS) hat einen neuen Telemedizin-Ansatz angekündigt, um den Zugang zu genetischen Testdienstleistungen zu erweitern, insbesondere für Familien, die eine Diagnose durch Exom-Sequenzierung suchen. Die Initiative zielt darauf ab, die derzeitige durchschnittliche Diagnosedauer von 4-5 Jahren bei seltenen Krankheiten zu verkürzen, indem Eltern direkt mit genetischen Experten in Kontakt gebracht werden.
Das Unternehmen hebt hervor, dass Kinder mit neuroentwicklungsbedingten Störungen typischerweise über $10.000 an zusätzlichen Gesundheitskosten anfallen und während ihres diagnostischen Weges mehr als 5 nicht aussagekräftige Tests durchlaufen. Mit diesem neuen Telemedizin-Dienst können Eltern Tests und Termine planen und möglicherweise innerhalb von nur fünf Wochen eine Diagnose erhalten, indem sie GeneDx.com/get-exome besuchen.
Das Unternehmen arbeitet mit einem führenden Anbieter von genetischer Telemedizin zusammen, um den Überweisungsprozess zu optimieren. Diese Initiative geht auf die steigenden Wartezeiten für medizinische Genetiker und Entwicklungs-/Verhaltenspädiater ein, die in den letzten drei Jahren erheblich zugenommen haben.
- Introduction of new telehealth pathway potentially reducing diagnosis time from 4-5 years to as little as 5 weeks
- Streamlined access to genetic testing could reduce unnecessary healthcare costs (currently over $10,000 per child)
- Partnership with leading telehealth provider to improve service accessibility
- None.
Insights
The launch of GeneDx's telehealth pathway represents a strategic pivot in genetic testing accessibility. The $10,000 additional health costs and 5+ uninformative tests typically faced by families highlight the significant market inefficiency this solution addresses. The platform could accelerate revenue growth by capturing untapped demand from the substantial backlog of patients waiting for genetic specialist appointments.
The initiative aligns with value-based care trends, potentially reducing healthcare system costs while increasing diagnostic efficiency. The 5-week turnaround for results versus the typical 4-5 year diagnostic journey represents a dramatic improvement in service delivery that could drive market share gains. Think of it as moving from dial-up internet to broadband - a fundamental shift in how quickly critical information reaches users.
The company's database of 700,000 exomes and genomes creates a powerful network effect - each additional test improves diagnostic accuracy, potentially creating a sustainable competitive advantage in the precision medicine market.
From a clinical perspective, this telehealth pathway addresses a critical bottleneck in rare disease diagnostics. The current 4-5 year diagnostic odyssey isn't just a statistic - it represents thousands of families missing important intervention windows and treatment opportunities. Consider it like having a map but waiting years to read it - the destination (diagnosis) exists, but the delay in reaching it impacts patient outcomes.
The platform's direct-to-parent approach, combined with GeneDx's extensive genomic database, could significantly improve diagnostic yields. For context, early genetic diagnosis can radically alter treatment trajectories, especially for neurodevelopmental conditions where early intervention is crucial. The reduction in unnecessary testing and specialist visits also decreases the physical and emotional burden on patients.
Despite mounting clinical evidence for the benefits of exome testing in delivering a definitive diagnosis for rare disease patients, many individuals face barriers to access comprehensive genetic testing. The average time to an accurate diagnosis remains approximately 4-5 years, and in some populations, it can extend up to a decade. 1 At the same time, a child with neurodevelopmental disorders is likely to accrue over
“GeneDx understands that a genetic diagnosis can be life-changing for families, offering crucial insights that inform personalized care and treatment, which can lead to significantly improved health outcomes, including gene therapies and proactive condition management,” said Dr. Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “GeneDx is steadfast in our commitment to increasing access to exome and genome testing by responsibly removing the systematic barriers that have previously prevented patients and families from accessing this critical testing.”
Too many children experience symptoms without a clear answer as to why. Meanwhile, genetic tests exist that may provide the answers these families desperately need. To bridge that gap, GeneDx is working with a leading telehealth genetics provider, to enable an easier way for parents to access actionable, accurate genetic testing for their child by streamlining the referral process to better support patients and families in need of exome testing. Parents can schedule testing, appointments, and receive a diagnosis in as soon as five weeks by visiting GeneDx.com/get-exome.
GeneDx's commitment to expanding access to testing extends beyond enabling new channels and focuses on ensuring all patients have equitable access to care. Recent findings highlight that racial disparities in delivering precise genetic diagnoses are due to limited access to testing, not differences in diagnostic yield across diverse populations. By expanding access to GeneDx's exome and genome testing, more patients can benefit from the genomic insights of over 700,000 exomes and genomes, increasing 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, X, Facebook, and Instagram.
References:
- Marwaha S, Knowles JW, and Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w.
- Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.
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Klima, T. (2023). Access to Pediatric Specialty Care in
California : Results of The Children’s Specialty Care Coalition 2022 Member Survey (pp. 1–11).California : Practical Research Solutions.
View source version on businesswire.com: https://www.businesswire.com/news/home/20250109387267/en/
Investor Relations Contact:
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Media Contact:
Press@GeneDx.com
Source: GeneDx
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