GeneDx has launched two major initiatives aimed at transforming rare disease diagnosis and treatment, leveraging its extensive genomic database to bridge critical gaps in both patient care and pharmaceutical development.
Expanding Access to Genetic Testing for Pediatric Epilepsy
GeneDx (Nasdaq: WGS) has announced a new Patient Access Program for pediatric epilepsy in partnership with Biogen (Nasdaq: BIIB), Praxis Precision Medicines (Nasdaq: PRAX), and Stoke Therapeutics (Nasdaq: STOK). The program will provide increased access to whole exome sequencing for children with epilepsy, addressing a significant unmet need in the field.
Currently, pediatric epilepsy patients face a diagnostic odyssey lasting 5-8 years on average. While targeted multi-gene panel testing is sometimes available, these panels typically include fewer than 50% of the more than 700 genes known to be related to seizures. This gap in testing capabilities has left many patients without definitive diagnoses.
Whole exome sequencing has demonstrated superior diagnostic yield, with nearly 25% of patients with seizures receiving a genetic diagnosis through this method, compared to 19% with traditional epilepsy gene panels. The National Society of Genetic Counselors recommends exome testing as a first-line test for patients with unexplained epilepsy, with this guidance endorsed by the American Epilepsy Society.
"While epilepsy is a fairly common condition, affecting nearly a half a million children under age 18 in the US, its genetic origins are still insufficiently understood," said Melanie Duquette, Chief Growth Officer of GeneDx. "Through increased access to exome testing more patients may not only get potential answers for their symptoms, but it may also allow the possibility of personalized treatments and therapies in the future."
The program targets patients under 18 years of age who experienced their first unprovoked seizure before age 8 and have not had prior genetic testing that confirmed a neurodevelopmental disorder diagnosis. By increasing access to comprehensive genetic testing, the program aims to reduce racial disparities in care and accelerate the path to diagnosis.
Steven Petrou, Chief Scientific Officer and co-founder of Praxis Precision Medicines, highlighted the importance of this initiative: "The success of the EMBOLD study and the ongoing work in our EMBRAVE study underscore the transformative potential of our Cerebrum and Solidus platforms to accelerate drug discovery and development for patients with severe epilepsy. By combining these advances with the GeneDx Patient Access Program, we are not only refining the understanding of epilepsy's genetic underpinnings but also enhancing trial recruitment and speeding the delivery of innovative treatments to patients who need them most."
Barry Ticho, M.D., Ph.D., Chief Medical Officer of Stoke Therapeutics, added, "A proper genetic diagnosis is a critical first step in getting patients with epilepsy the care and treatment they need. As our understanding of the genetic causes of epilepsy continues to increase, we are unlocking the potential for new genetically targeted treatments that address the underlying cause of the disease rather than only the symptoms."
GeneDx Discover: Transforming Drug Development Through Genetic Data
In a parallel development, GeneDx has launched GeneDx Discover, a first-of-its-kind data visualization tool designed to provide biopharmaceutical companies with access to deidentified and aggregated genetic data from the company's extensive database.
The current drug development landscape faces significant challenges, with the average new therapy costing $2.6 billion, taking 12 years to develop, and failing 90% of the time due to safety or efficacy issues. These statistics underscore the need for more efficient approaches to therapeutic development.
GeneDx Discover aims to address these challenges by leveraging the company's database of more than 700,000 clinical exomes and genomes to drive evidence-based decision making in drug development. The self-service tool combines disease prevalence and phenotypic information with variant-level details, allowing pharmaceutical researchers to gain deeper insights into genetically-defined disease cohorts.
"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," explained Duquette. "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."
The tool provides 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. This comprehensive approach enables researchers to better understand the size and characteristics of target patient populations.
Yael Weiss, CEO of Mahzi Therapeutics, emphasized the value of this resource: "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. By accessing genetic data, we can accelerate the development of precision therapies, offering new hope for patients with rare diseases."
Synergistic Approach to Rare Disease Management
These two initiatives represent complementary approaches to addressing the challenges of rare disease management. By expanding access to genetic testing for patients while simultaneously providing pharmaceutical companies with tools to accelerate drug development, GeneDx is creating a synergistic ecosystem that benefits both current and future patients.
Research indicates that for those with a genetic diagnosis, the knowledge has implications for treatment and management in up to 80% of people. As genetic testing becomes more accessible and pharmaceutical companies gain better insights into the genetic underpinnings of diseases, the potential for targeted therapies increases significantly.
The company's approach aligns with recent research highlighting the impact of genetic evidence on clinical success in drug development. By providing access to real-world genetic data, GeneDx is helping to refine target selection and validation, potentially reducing the high failure rates and costs associated with traditional drug development approaches.
As precision medicine continues to evolve, initiatives like those launched by GeneDx represent important steps toward a future where genetic insights drive both diagnosis and treatment, ultimately improving outcomes for patients with rare and complex conditions.
