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GeneDx Fuels Rare Disease Drug Discovery With Launch of GeneDx Discover

GeneDx Fuels Rare Disease Drug Discovery With Launch of GeneDx Discover

GeneDx推出GeneDx Discover,推动罕见疾病药物发现
GeneDx Holdings ·  2024/11/19 13:00

New Biopharma Solution Aims to Accelerate the Delivery of Precision Medicine to More Patients

新的生物药品解决方案旨在加快将精准医学传递给更多患者

STAMFORD, Conn.--(BUSINESS WIRE)--Nov. 19, 2024--GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced GeneDx Discover, a first-of-its-kind data visualization tool, which provides biopharmaceutical companies access to deidentified and aggregated genetic data - powered by GeneDx's robust database - to improve all stages of drug development. The new offering is part of GeneDx's ongoing investment to deliver personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery.

康涅狄格州斯坦福德--(商业资讯)--2024年11月19日--GeneDx(纳斯达克:WGS),一家通过基因组洞察提供改善健康结果的领导者,今天宣布推出GeneDx Discover,这是一种首创的数据可视化工具,为药品行业板块公司提供去身份化和聚合的遗传数据——通过GeneDx强大的数据库提供动力——以改善药物开发的所有阶段。此次新产品是GeneDx持续投资的一部分,旨在提供个性化和可操作的健康洞察,以便指导诊断、引导治疗和改善药物发现。

Today's drug discovery and development process is not scalable to meet society's growing needs. On average, developing a new therapy costs $2.6B, takes 12 years, and fails 90% of the time. This data represents today's long and expensive clinical development cycles that too often fail due to safety and/or efficacy issues.1,2 These high costs, lengthy development periods, and overwhelming failure rates are unsustainable, especially as science and technology advance to address critical therapy gaps both in the U.S. and globally.

如今的药物发现和研发过程无法满足社会不断增长的需求。平均而言,开发一种新疗法的成本为26亿美元,需要12年的时间,失败的几率达到90%。这些数据代表了当今长期且昂贵的临床开发周期,往往因安全性和/或有效性问题而失败。这些高昂的成本、漫长的研发周期和令人沮丧的失败率是不可持续的,特别是随着科学和技术的进步来解决美国和全球关键疗法缺口。

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.

基因数据是一个强大的工具,可以显著提升治疗开发过程,包括降低成本、加速时间表和提高成功率。随着对基因诊断的访问不断扩大,基因在治疗开发中的影响日益增强。凭借超过70万临床外显子和基因组数据,GeneDx行业领先的数据集是行业中最复杂的之一,现在可以作为生物制药公司的解决方案,推动基于证据的决策,加速新疗法的开发。

"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."

“拥有近25年的临床遗传数据专业知识,GeneDx拥有丰富的遗传证据,在改变患者护理和开启新药物开发机会中起着关键作用,”GeneDx首席增长官Melanie Duquette表示。“GeneDx Discover是一种数据驱动的解决方案,赋予我们的生物制药合作伙伴更好地理解疾病的遗传基础、在不同患者人群中的流行率,并加速有针对性疗法的开发——帮助更多患者更快地获得有效治疗。”

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 Discover是一个自助工具,利用真实数据来帮助更深入理解目标患者群体的特征。这个易于使用的工具将疾病流行率和表型信息与变异水平的细节相结合,解锁对基因定义疾病群体的总可寻址市场规模和独特特征的更深入理解,并获得变异水平分辨率以定义群体。通过GeneDx Discover,合作伙伴可以访问人口统计信息、地理疾病分布、变异信息,并能够通过人类表型本体(HPO)来筛选搜索结果,以根据特定表型特征来细化群体。

"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."

“GeneDx的数据库是一个强大的资源,可以推动药物发现的未来,为目标验证提供关键工具,了解这些患者群体的增长情况,”Mahzi Therapeutics的首席执行官Yael Weiss说。“通过访问遗传数据,我们可以加快精准疗法的研发,为患有罕见疾病的患者提供新的希望。在追求创新治疗方法时,整合遗传信息不仅是一个进步,更是解锁变革性、改变生活的解决方案的关键。”

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 .

通过与各种合作伙伴合作,GeneDx与生物制药公司合作,增加患者接受基因检测的机会,并加快罕见疾病治疗方法的开发速度。今年早些时候,GeneDx推出了一个旨在扩大对患有不明原因癫痫的小儿接受外显子检测的患者的访问的患者医疗方案。GeneDx Discover是GeneDx为生物制药公司提供的最新产品,可以利用关键的遗传信息,影响患者的生活。要了解更多,请访问。

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 and connect with us on LinkedIn, Facebook, and Instagram.

关于GeneDx:
GeneDx(纳斯达克:WGS)提供个性化和可操作的健康洞察,以帮助诊断、指导治疗和改善药品发现。该公司独特地处于一个加速基因组和大规模临床信息使用的有利位置,使精准医学成为标准护理。GeneDx在通过其行业领先的外显子组和基因组检测及解读服务,推动医疗保健的转型,依托于全球最大的罕见疾病数据集。如需更多信息,请访问并在LinkedIn、Facebook和Instagram与我们联系。

References:

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)

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)

参考文献:

Minikel, E.V., Painter, J.L., Dong, C.C.等人。细化遗传证据对临床成功的影响。《自然》629, 624–629 (2024)

Paul, S., Mytelka, D., Dunwiddie, C.等人。如何提高研发生产力:药品行业板块的重大挑战。《自然评论-药物发现》9, 203–214 (2010)

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