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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,推動罕見疾病藥物發現
GeneDx Holdings ·  11/19 00:00

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

新的生物製藥解決方案旨在加速向更多患者提供精準醫療

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--(美國商業資訊)--2024年11月19日--通過基因組洞察提供改善健康結果的領導者GenedX(納斯達克股票代碼:WGS)今天宣佈推出首款數據可視化工具GenedX Discover,該工具爲生物製藥公司提供訪問去識別化和聚合遺傳數據的機會(由GenedX強大的數據庫提供支持),以改善藥物研發的各個階段。新產品是GenedX持續投資的一部分,旨在提供個性化和可操作的健康見解,爲診斷提供信息,指導治療並改善藥物發現。

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.

當今的藥物發現和開發過程無法擴展以滿足社會不斷增長的需求。平均而言,開發一種新療法的成本爲26億美元,耗時12年,90%的時間會失敗。這些數據代表了當今漫長而昂貴的臨床開發週期,這些週期往往由於安全性和/或有效性問題而失敗。1,2 這些高成本、漫長的開發週期和壓倒性的失敗率是不可持續的,尤其是在科學和技術進步以填補美國和全球關鍵療法差距的情況下。

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.

遺傳數據是一種強大的工具,可以顯著改善治療開發過程,包括降低成本、加快時間表和提高成功率1。隨着獲得基因診斷的機會持續擴大,遺傳學對治療開發的影響越來越大。GenedX 擁有超過 700,000 個臨床外顯子組和基因組,是業內最複雜的數據集之一,現在可以用作生物製藥公司推動循證決策和加速新療法開發的解決方案。

"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首席增長官梅蘭妮·杜奎特表示:「GenedX在臨床遺傳數據方面擁有近25年的專業知識,擁有豐富的遺傳證據,這些證據在改變患者護理和釋放新藥開發機會方面起着至關重要的作用。」「GenedX Discover是一種數據驅動的解決方案,它使我們的生物製藥合作伙伴能夠更好地了解疾病的遺傳基礎、疾病在不同患者群體中的流行情況,並加速靶向療法的開發——幫助更快地爲更多患者提供有效的治療。」

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 是一種自助服務工具,它利用真實世界的數據來更深入地了解目標患者群體的特徵。這款易於使用的工具結合了疾病流行率和表型信息以及變體級別的詳細信息,可以更深入地了解基因定義的疾病隊列的總體潛在市場的規模和獨特特徵,並獲得變體級別的分辨率來定義隊列。通過 GenedX Discover,合作伙伴可以獲得人口統計、地理疾病分佈、變異信息,並能夠按人類表型本體 (HPO) 篩選搜索,從而根據特定的表型特徵完善隊列。

"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."

Mahzi Therapeutics首席執行官耶爾·魏斯表示:「GenedX的數據庫是一種強大的資源,可以幫助推動藥物發現的未來,爲靶標驗證解鎖關鍵工具,並了解這些患者群體的增長情況。」「通過訪問遺傳數據,我們可以加快精準療法的開發,爲罕見疾病患者帶來新的希望。在追求創新療法的過程中,遺傳信息的整合不僅是向前邁出的一步,也是解鎖變革、改變生活的解決方案的關鍵。」

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 .

通過各種合作伙伴關係,GenedX與生物製藥公司合作,以增加患者獲得基因檢測的機會,並加快罕見疾病治療的開發。今年早些時候,GenedX啓動了一項患者准入計劃,旨在擴大患有不明原因癲癇的兒科患者獲得外顯子組檢測的機會。GenedX Discover是GenedX爲生物製藥公司提供的最新產品,旨在利用可能影響患者生活的關鍵遺傳信息。要了解更多信息,請訪問。

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.

關於 GenedX:
GenedX(納斯達克股票代碼:WGS)提供個性化和可操作的健康見解,爲診斷提供信息、指導治療並改善藥物發現。該公司處於獨特的地位,可以加速使用基因組和大規模臨床信息,將精準醫療作爲護理標準。GenedX 在全球最大的罕見疾病數據集的推動下,通過其行業領先的外顯子組和基因組測試與解釋服務,處於醫療保健轉型的最前沿。欲了解更多信息,請訪問領英、臉書和Instagram並聯系我們。

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)

參考文獻:

1Minikel、E.V.、Painter、J.L.、Dong、C.C. 等完善遺傳證據對臨床成功的影響。自然 629、624—629 (2024)

2Paul、S.、Mytelka、D.、Dunwiddie、C. 等。如何提高研發效率:製藥行業的重大挑戰。Nat Rev Drug Discov 9,203—214 (2010)

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Source: GeneDx

資料來源:GenedX

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