GeneDx Fuels Rare Disease Drug Discovery with Launch of GeneDx Discover
GeneDx (Nasdaq: WGS) has launched GeneDx Discover, a data visualization tool providing biopharmaceutical companies access to deidentified genetic data to improve drug development. The tool leverages GeneDx's database of over 700,000 clinical exomes and genomes to help understand disease characteristics and patient populations. This initiative aims to address current drug development challenges, where the average new therapy costs $2.6B, takes 12 years, and has a 90% failure rate. The self-service platform combines disease prevalence data, phenotypic information, and variant-level details to help define patient cohorts and understand market opportunities for genetically-defined diseases.
GeneDx (Nasdaq: WGS) ha lanciato GeneDx Discover, uno strumento di visualizzazione dei dati che offre alle aziende biopharmaceuticali l'accesso a dati genetici anonimizzati per migliorare lo sviluppo dei farmaci. Questo strumento sfrutta il database di GeneDx, che contiene oltre 700.000 esomi e genomi clinici, per aiutare a comprendere le caratteristiche delle malattie e le popolazioni dei pazienti. Questa iniziativa ha l'obiettivo di affrontare le attuali sfide nello sviluppo dei farmaci, dove il costo medio di una nuova terapia è di 2,6 miliardi di dollari, richiede 12 anni e presenta un tasso di fallimento del 90%. La piattaforma self-service combina dati sulla prevalenza delle malattie, informazioni fenotipiche e dettagli a livello di variante per aiutare a definire i gruppi di pazienti e comprendere le opportunità di mercato per le malattie definite geneticamente.
GeneDx (Nasdaq: WGS) ha lanzado GeneDx Discover, una herramienta de visualización de datos que proporciona a las empresas biofarmacéuticas acceso a datos genéticos desidentificados para mejorar el desarrollo de medicamentos. La herramienta aprovecha la base de datos de GeneDx, que cuenta con más de 700,000 exomas y genomas clínicos, para ayudar a comprender las características de las enfermedades y las poblaciones de pacientes. Esta iniciativa tiene como objetivo abordar los desafíos actuales en el desarrollo de medicamentos, donde el costo promedio de una nueva terapia es de 2.6 mil millones de dólares, toma 12 años y tiene una tasa de fracaso del 90%. La plataforma de autoservicio combina datos de prevalencia de enfermedades, información fenotípica y detalles a nivel de variantes para ayudar a definir cohortes de pacientes y comprender las oportunidades de mercado para las enfermedades definidas genéticamente.
GeneDx (Nasdaq: WGS)는 GeneDx Discover를 출시했습니다. 이는 생명공학 회사들이 약물 개발을 개선하기 위해 개인을 식별할 수 없는 유전 데이터를 접근할 수 있게 해주는 데이터 시각화 도구입니다. 이 도구는 70만 개 이상의 임상 엑솜 및 게놈을 포함한 GeneDx의 데이터베이스를 활용하여 질병의 특성과 환자 인구를 이해하는 데 도움을 줍니다. 이 이니셔티브는 새로운 치료법의 평균 비용이 26억 달러에 달하고, 12년이 소요되며, 실패율이 90%에 이르는 현재의 약물 개발 문제를 해결하는 것을 목표로 합니다. 이 셀프 서비스 플랫폼은 질병 유병률 데이터, 표현형 정보 및 변이 수준의 세부 정보를 결합하여 환자 집단을 정의하고 유전적으로 정의된 질병에 대한 시장 기회를 이해하는 데 도움을 줍니다.
GeneDx (Nasdaq: WGS) a lancé GeneDx Discover, un outil de visualisation des données permettant aux entreprises biopharmaceutiques d'accéder à des données génétiques désidentifiées pour améliorer le développement des médicaments. Cet outil s'appuie sur la base de données de GeneDx, qui compte plus de 700 000 exomes et génomes cliniques, afin d'aider à comprendre les caractéristiques des maladies et les populations de patients. Cette initiative vise à relever les défis actuels du développement des médicaments, où le coût moyen d'une nouvelle thérapie s'élève à 2,6 milliards de dollars, prend 12 ans et présente un taux d'échec de 90 %. La plateforme en libre-service combine des données sur la prévalence des maladies, des informations phénotypiques et des détails au niveau des variantes pour aider à définir des cohortes de patients et comprendre les opportunités de marché pour les maladies définies génétiquement.
GeneDx (Nasdaq: WGS) hat GeneDx Discover gestartet, ein Datenvisualisierungstool, das Biopharmaunternehmen den Zugriff auf anonymisierte genetische Daten ermöglicht, um die Arzneimittelentwicklung zu verbessern. Das Tool nutzt die Datenbank von GeneDx, die über 700.000 klinische Exome und Genome umfasst, um die Eigenschaften von Krankheiten und Patientengruppen zu verstehen. Diese Initiative zielt darauf ab, die aktuellen Herausforderungen in der Arzneimittelentwicklung anzugehen, bei denen die durchschnittlichen Kosten für eine neue Therapie 2,6 Milliarden Dollar betragen, 12 Jahre in Anspruch nehmen und eine Ausfallrate von 90 % aufweisen. Die Selbstbedienungsplattform kombiniert Daten zur Krankheitsprävalenz, phänotypische Informationen und details auf Variantenebene, um Patientengruppen zu definieren und Marktchancen für genetisch definierte Krankheiten zu verstehen.
- Access to extensive database of 700,000+ clinical exomes and genomes
- New revenue stream through biopharma partnerships
- Potential to reduce drug development costs and timelines for partners
- None.
Insights
The launch of GeneDx Discover represents a significant strategic move in the $2.6B drug development market. This data visualization tool addresses critical industry pain points, particularly the 90% failure rate in drug development and lengthy 12-year development cycles. The platform's access to 700,000+ clinical exomes and genomes positions GeneDx uniquely in the precision medicine space.
The tool's self-service nature and comprehensive dataset covering demographics, geographic distribution and variant information creates multiple revenue streams through biopharma partnerships. This launch could significantly impact GeneDx's market position and revenue potential in the growing precision medicine market, especially given the increasing focus on rare disease drug development.
GeneDx Discover's integration of Human Phenotype Ontology (HPO) with genetic data creates a powerful platform for rare disease research. The ability to refine cohorts based on specific phenotypic features addresses a important gap in drug development targeting rare diseases. The platform's real-world data approach, combining disease prevalence with phenotypic information, enables more precise patient population identification and characterization.
The partnership with Mahzi Therapeutics and the recent Patient Access Program for pediatric epilepsy patients demonstrates practical applications and market validation. This positions GeneDx as a key player in accelerating precision medicine development, particularly for underserved rare disease populations.
New Biopharma Solution Aims to Accelerate the Delivery of Precision Medicine to More Patients
Today’s drug discovery and development process is not scalable to meet society’s growing needs. On average, developing a new therapy costs
Genetic data is a powerful tool that can significantly enhance the therapeutic development process, including reducing costs, accelerating timelines, and increasing success rates1. With access to genetic diagnoses continuing to expand, the impact of genetics on therapeutic development is growing. With more than 700,000 clinical exomes and genomes, GeneDx’s industry leading dataset is one of the most sophisticated in the industry and can now be leveraged as a solution for biopharmaceutical companies to drive evidence-based decision making and accelerate the development of new treatments.
"With nearly 25 years of expertise in clinical genetic data, GeneDx holds a wealth of genetic evidence that plays a critical role in transforming patient care and unlocking new drug development opportunities," said Melanie Duquette, Chief Growth Officer at GeneDx. "GeneDx Discover is a data-driven solution that empowers our biopharma partners to better understand the genetic underpinnings of diseases, their prevalence in diverse patient populations and accelerate the development of targeted therapies—helping bring effective treatments to more patients, faster."
GeneDx Discover is a self-service tool which leverages real-world data to enable a deeper understanding of the characteristics of target patient populations. The easy-to-use tool combines disease prevalence and phenotypic information, alongside variant-level details, unlocking a deeper understanding of the size and unique characteristics of the total addressable market for genetically-defined disease cohorts, and obtaining variant-level resolution to define the cohort. Through GeneDx Discover, partners have access to demographics, geographic disease distribution, variant information and the ability to filter searches by Human Phenotype Ontology (HPO) to refine cohorts based on specific phenotypic features.
"GeneDx's database is a powerful resource that can help drive the future of drug discovery, unlocking critical tools for target validation and understanding how these patient populations are growing,” said Yael Weiss, CEO of Mahzi Therapeutics. “By accessing genetic data, we can accelerate the development of precision therapies, offering new hope for patients with rare diseases. In the pursuit of innovative treatments, the integration of genetic information is not just a step forward—it's the key to unlocking transformative, life-changing solutions."
Through its various partnerships, GeneDx collaborates with biopharmaceutical companies to increase patient access to genetic testing and speed up the development of treatments for rare diseases. Earlier this year, GeneDx launched a Patient Access Program, aimed at expanding access to exome testing for pediatric patients with unexplained epilepsy. GeneDx Discover is the latest offering from GeneDx for biopharmaceutical companies to leverage crucial genetic information that can impact patients' lives. To learn more visit www.genedx.com/biopharma.
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.
References: |
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1Minikel, E.V., Painter, J.L., Dong, C.C. et al. Refining the impact of genetic evidence on clinical success. Nature 629, 624–629 (2024) |
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2Paul, S., Mytelka, D., Dunwiddie, C. et al. How to improve R&D productivity: the pharmaceutical industry's grand challenge. Nat Rev Drug Discov 9, 203–214 (2010) |
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