GeneDx Expands Commercial Footprint for Exome and Genome Testing with Cerebral Palsy as a New Indication
GeneDx (Nasdaq: WGS) has expanded its genetic testing services to include cerebral palsy (CP) as a new indication during Cerebral Palsy Awareness Month. The company's research shows that approximately 300 genes are associated with CP, with genetic conditions identified as the underlying cause in nearly 1 in 3 CP patients.
The expansion aims to improve access to exome and genome testing for CP patients, which affects approximately 10,000 children annually. Recent data published by GeneDx in JAMA demonstrated a more than 30% diagnostic rate in a cohort of over 1,300 CP patients.
The company's testing can help guide personalized treatment strategies, identify eligibility for targeted therapies, and connect patients with advocacy groups. GeneDx has also established a collaboration with Geisinger to create a large-scale harmonized dataset for gene discovery and additional research in CP.
GeneDx (Nasdaq: WGS) ha ampliato i suoi servizi di test genetici includendo la paralisi cerebrale (PC) come nuova indicazione durante il Mese di Consapevolezza sulla Paralisi Cerebrale. La ricerca dell'azienda mostra che circa 300 geni sono associati alla PC, con condizioni genetiche identificate come causa sottostante in quasi 1 paziente su 3 affetto da PC.
L'espansione mira a migliorare l'accesso ai test dell'esoma e del genoma per i pazienti affetti da PC, che colpisce circa 10.000 bambini ogni anno. Dati recenti pubblicati da GeneDx in JAMA hanno dimostrato un tasso diagnostico superiore al 30% in un gruppo di oltre 1.300 pazienti con PC.
I test dell'azienda possono aiutare a guidare strategie di trattamento personalizzate, identificare l'idoneità per terapie mirate e connettere i pazienti con gruppi di advocacy. GeneDx ha anche stabilito una collaborazione con Geisinger per creare un dataset armonizzato su larga scala per la scoperta di geni e ulteriori ricerche sulla PC.
GeneDx (Nasdaq: WGS) ha ampliado sus servicios de pruebas genéticas para incluir la parálisis cerebral (PC) como una nueva indicación durante el Mes de Concienciación sobre la Parálisis Cerebral. La investigación de la empresa muestra que aproximadamente 300 genes están asociados con la PC, con condiciones genéticas identificadas como la causa subyacente en casi 1 de cada 3 pacientes con PC.
La expansión tiene como objetivo mejorar el acceso a las pruebas de exoma y genoma para los pacientes con PC, que afecta a aproximadamente 10,000 niños anualmente. Datos recientes publicados por GeneDx en JAMA demostraron una tasa de diagnóstico superior al 30% en una cohorte de más de 1,300 pacientes con PC.
Las pruebas de la empresa pueden ayudar a guiar estrategias de tratamiento personalizadas, identificar elegibilidad para terapias dirigidas y conectar a los pacientes con grupos de defensa. GeneDx también ha establecido una colaboración con Geisinger para crear un conjunto de datos armonizado a gran escala para el descubrimiento de genes y más investigación en PC.
GeneDx (Nasdaq: WGS)는 뇌성마비 (CP)를 새로운 지표로 포함하여 유전자 검사 서비스를 확장했습니다. 이는 뇌성마비 인식의 달 동안 이루어진 일입니다. 회사의 연구에 따르면 약 300개의 유전자가 CP와 관련이 있으며, 유전적 상태가 CP 환자의 거의 1/3에서 근본 원인으로 확인되었습니다.
이번 확장은 매년 약 10,000명의 어린이에게 영향을 미치는 CP 환자에 대한 엑솜 및 유전체 검사 접근성을 개선하는 것을 목표로 하고 있습니다. GeneDx가 JAMA에 발표한 최근 데이터는 1,300명 이상의 CP 환자 집단에서 30% 이상의 진단율을 보여주었습니다.
회사의 검사는 개인 맞춤형 치료 전략을 안내하고, 표적 치료에 대한 자격을 확인하며, 환자와 옹호 단체를 연결하는 데 도움을 줄 수 있습니다. GeneDx는 또한 유전자 발견 및 CP에 대한 추가 연구를 위한 대규모 조화된 데이터 세트를 만들기 위해 Geisinger와 협력 관계를 구축했습니다.
GeneDx (Nasdaq: WGS) a élargi ses services de tests génétiques pour inclure la paralysie cérébrale (PC) comme nouvelle indication durant le Mois de Sensibilisation à la Paralysie Cérébrale. La recherche de l'entreprise montre qu'environ 300 gènes sont associés à la PC, avec des conditions génétiques identifiées comme cause sous-jacente chez près d'1 patient sur 3 atteint de PC.
Cette expansion vise à améliorer l'accès aux tests de l'exome et du génome pour les patients atteints de PC, qui touchent environ 10 000 enfants chaque année. Des données récentes publiées par GeneDx dans JAMA ont montré un taux de diagnostic supérieur à 30 % dans une cohorte de plus de 1 300 patients atteints de PC.
Les tests de l'entreprise peuvent aider à orienter des stratégies de traitement personnalisées, identifier l'éligibilité pour des thérapies ciblées et connecter les patients avec des groupes de défense. GeneDx a également établi une collaboration avec Geisinger pour créer un ensemble de données harmonisé à grande échelle pour la découverte de gènes et des recherches supplémentaires sur la PC.
GeneDx (Nasdaq: WGS) hat seine genetischen Testdienste erweitert, um die zerebrale Lähmung (CP) als neue Indikation während des Monats zur Sensibilisierung für zerebrale Lähmung aufzunehmen. Die Forschung des Unternehmens zeigt, dass etwa 300 Gene mit CP assoziiert sind, wobei genetische Erkrankungen in fast 1 von 3 CP-Patienten als zugrunde liegende Ursache identifiziert wurden.
Die Erweiterung zielt darauf ab, den Zugang zu Exom- und Genomtests für CP-Patienten zu verbessern, die jährlich etwa 10.000 Kinder betreffen. Neueste Daten, die von GeneDx in JAMA veröffentlicht wurden, zeigen eine diagnostische Rate von über 30 % in einer Kohorte von mehr als 1.300 CP-Patienten.
Die Tests des Unternehmens können helfen, personalisierte Behandlungsstrategien zu leiten, die Eignung für zielgerichtete Therapien zu identifizieren und Patienten mit Advocacy-Gruppen zu verbinden. GeneDx hat auch eine Zusammenarbeit mit Geisinger etabliert, um einen groß angelegten harmonisierten Datensatz für die Genentdeckung und weitere Forschung zu CP zu erstellen.
- Expansion into cerebral palsy testing market of 10,000 new patients annually
- 30% diagnostic success rate demonstrated in large-scale study
- Strategic partnership with Geisinger for research and dataset development
- Testing can identify eligibility for targeted therapies and clinical trials
- None.
Insights
GeneDx's strategic expansion into cerebral palsy (CP) testing represents a meaningful market opportunity in pediatric rare disease diagnostics. With 10,000 children diagnosed with CP annually and genetic factors now understood to cause nearly 1 in 3 cases, this addresses a significant unmet diagnostic need.
The company's evidence-based approach is particularly compelling - their JAMA-published research demonstrated a 30% diagnostic yield using their exome and genome sequencing for CP patients. This scientific validation strengthens their competitive position in the growing precision diagnostics market.
Most significant for investors is that 1 in 4 genetic forms of CP are clinically actionable, meaning genetic insights directly impact treatment decisions. This actionability dramatically increases the value proposition and potential reimbursement for testing, as it moves beyond diagnostic to therapeutic utility.
This expansion leverages GeneDx's existing technology infrastructure and expertise in pediatric genetics while opening new revenue streams. By positioning themselves at the intersection of neurodevelopmental disorders and precision medicine, GeneDx strengthens their leadership in transforming complex, historically misunderstood conditions through genomic insights.
GeneDx Recognizes Cerebral Palsy Awareness Month with Commitment to Improve Access to Testing
GeneDx underscores its commitment to improving patient care by shortening the diagnostic odyssey and accelerating the path to treatment—the most impactful way to support individuals with CP and their families.
As one of the most common childhood disabilities, each year approximately 10,000 children are diagnosed with CP.1,2 Historically, birth-related issues such as asphyxia and birth trauma have been seen as the primary causes; however, recent research done in collaboration with GeneDx shows there are approximately 300 genes associated with CP, and in nearly 1 in 3 CP patients, a genetic condition is identified as the underlying cause.3,4 A genetic diagnosis has been shown to guide a more tailored approach for medical management, reduce healthcare costs, and improve access to clinical trials. 5
“More cases of CP may be due to genetic causes than to birth-related injuries6,” said Michael Kruer, MD, Director of the Pediatric Movement Disorders Program at Phoenix Children’s. “Furthermore, our analyses have shown that more than 1 in 4 genetic forms of CP are clinically actionable7, meaning that detecting a causative gene would be anticipated to change that patient’s treatment right now. As gene-targeted therapies continue to grow, that proportion is only expected to increase.”
GeneDx’s industry leading exome and genome empower clinicians with comprehensive genetic insights to uncover genetic factors contributing to CP. The testing provides valuable information that can guide personalized treatment and management strategies, including helping to identify potential eligibility for targeted therapies or clinical trials with GeneDx’s biopharmaceutical partners as well as connecting with advocacy groups.
“Our focus to expand access to genetic testing for cerebral palsy patients reflects GeneDx’s commitment to bring the power of genomics to more families seeking answers,” said Paul Kruszka, MD, FACMG, Chief Medical Officer. “For too long parents of children with CP have unnecessarily carried guilt about birth trauma, but today we can leverage our expertise in exome and genome sequencing to provide critical genetic insights that can transform the way CP is understood and managed.”
“It has become clear that cerebral palsy is often caused by genetic variants, even in those who have perinatal risk factors, and genetic testing has an important role in the etiologic evaluation,” said Scott Meyers, MD, Neurodevelopmental Pediatrician at Geisinger.
Beyond comprehensive testing to help this patient population, GeneDx has also invested in supporting research to further the understanding of exome and genome testing as a diagnostic tool for CP patients. GeneDx published data in JAMA from a cohort of more than 1300 patients with CP and found that exome and genome sequencing delivered a more than
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. | Durkin MS, Benedict RE, Christensen D, et al. Prevalence of Cerebral Palsy among 8-Year-Old Children in 2010 and Preliminary Evidence of Trends in Its Relationship to Low Birthweight. Pediatric Perinat Epidemiol. 2016 Sep;30(5):496-510. doi: 10.1111/ppe.12299 |
| 2. |
Maenner MJ, Blumberg SJ, Kogan MD, et al. Prevalence of cerebral palsy and intellectual disability among children identified in two |
| 3. | Srivastava S, Lewis SA, Cohen JS, et al. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. JAMA Neurol. 2022 Dec 1;79(12):1287-1295. doi: 10.1001/jamaneurol.2022.3549 |
| 4. | Moreno-De-Luca A, Millan F, Pesacreta DR, et al. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy. JAMA. 2021;325(5):467-475. doi:10.1001/jama.2020.26148. |
| 5. |
Srivastava S, Cole JJ, Cohen JS, Chopra M, Smith HS, Deardorff MA, Pedapati E, Corner B, Anixt JS, Jeste S, Sahin M, Gurnett CA, |
| 6. | Nelson KB, Blair E. Prenatal Factors in Singletons with Cerebral Palsy Born at or near Term. N Engl J Med. 2015 Sep 3;373(10):946-53. doi: 10.1056/NEJMra1505261. PMID: 26332549. |
| 7. | Lewis SA, Chopra M, Cohen JS, Bain JM, Aravamuthan B, Carmel JB, Fahey MC, Segel R, Wintle RF, Zech M, May H, Haque N, Fehlings D, Srivastava S, Kruer MC. Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2025 Feb 1;179(2):137–44. doi: 10.1001/jamapediatrics.2024.5059. PMID: 39621323; PMCID: PMC11612911. |
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Source: GeneDx
FAQ
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