GeneDx (Nasdaq: WGS), a leader in improving health outcomes through genomic insights, today announced Biogen (Nasdaq: BIIB), Praxis Precision Medicines (Nasdaq: PRAX), and Stoke Therapeutics (Nasdaq: STOK) as the founding partners of its Patient Access Program for pediatric epilepsy, offering access to whole exome sequencing.
Access to a definitive genetic diagnosis for pediatric epilepsy remains limited, with many children enduring a 5-8 year diagnostic journey. Although targeted multi-gene panel testing is available, there are over 700 genes linked to seizures, and most commercial gene panels cover less than 50% of these genes. The Patient Access Program aims to increase access to whole exome sequencing, enhancing the likelihood of receiving a definitive diagnosis. Nearly 25% of seizure patients received a genetic diagnosis through exome testing, compared to a 19% diagnostic yield from traditional epilepsy gene panels.
The program promotes more equitable care for pediatric epilepsy patients by increasing access to exome testing, which is recommended as a first-line test for unexplained epilepsy by the National Society of Genetic Counselors, with endorsement from the American Epilepsy Society. Research shows that a genetic diagnosis can significantly impact treatment and management for up to 80% of affected individuals. However, despite clinical guidelines supporting testing, access remains limited, with racial disparities and lengthy diagnostic delays for rare disorders like epilepsy. The Patient Access Program seeks to address these challenges by expanding access to whole exome sequencing.
The insights gained from exome testing will also contribute to GeneDx’s leading rare disease dataset. With data from over 700,000 exome and genome results, GeneDx helps researchers better understand gene-disease relationships in seizure patients.
“Epilepsy is a common condition, affecting nearly half a million children under 18 in the U.S., yet its genetic origins are still not well understood,” said Melanie Duquette, Chief Growth Officer of GeneDx. “By increasing access to exome testing, more patients may receive answers and benefit from personalized treatments in the future. GeneDx’s unique ability to provide answers for patients also helps biopharma companies develop potential therapies, while expanding our understanding of gene-disease relationships.”
Praxis Precision Medicines Chief Scientific Officer, Steven Petrou, emphasized the importance of collaboration, saying, “Through advances in our Cerebrum and Solidus platforms, combined with the GeneDx Patient Access Program, we’re refining our understanding of epilepsy’s genetic causes and accelerating drug discovery to deliver innovative treatments to patients. This partnership enhances trial recruitment and speeds up delivery of much-needed therapies.”
Barry Ticho, M.D., Ph.D., Chief Medical Officer of Stoke Therapeutics, added, “A genetic diagnosis is critical for providing epilepsy patients with the right care. As we learn more about the genetic causes of epilepsy, we’re unlocking the potential for treatments targeting the root causes of the disease. We’re excited to partner with GeneDx to improve access to testing and improve outcomes for patients.”
To qualify for the Patient Access Program, epilepsy patients and providers must meet specific criteria, including:
- Patients must be under 18 years old and reside in the U.S.
- Patients must have experienced their first unprovoked seizure before 8 years of age.
- Patients must not have had prior genetic testing confirming a neurodevelopmental disorder diagnosis.
- The ordering provider must be authorized to order genetic testing in the U.S.
About GeneDx:
GeneDx (Nasdaq: WGS) provides personalized, actionable health insights to guide diagnosis, treatment, and drug discovery. The company is a leader in advancing genomic and clinical information for precision medicine. GeneDx’s industry-leading exome and genome testing and interpretation services are supported by one of the world’s largest rare disease datasets, accelerating the transformation of healthcare.
