GeneDx Fuels Rare Disease Drug Discovery with Launch of GeneDx Discover

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

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.

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.

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.

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