GeneDx Enhances Pediatric Epilepsy Care with New Partners

GeneDx Expands Access to Exome Testing for Pediatric Epilepsy

GeneDx, a prominent player in genomic health, is on a mission to transform how pediatric epilepsy is diagnosed and treated. By collaborating with Biogen, Praxis Precision Medicines, and Stoke Therapeutics, GeneDx has initiated a Patient Access Program aimed at improving access to whole exome sequencing for children suffering from epilepsy. This partnership marks a significant step towards ensuring that families receive accurate diagnoses and tailored treatment options.

The Need for Genetic Testing in Pediatric Epilepsy

Pediatric epilepsy often presents a daunting challenge for healthcare providers, with a long diagnostic journey that can last between five to eight years. The current standard of care, which includes multi-gene panel testing, falls short because it only examines a limited set of genetic variants. Many genes related to seizures are overlooked, indicating a pressing need for comprehensive testing.

Understanding the Impact of Exome Testing

Exome testing has shown a higher diagnostic yield compared to traditional gene panels, revealing that nearly one-quarter of patients with seizures receive a genetic diagnosis when subjected to exome sequencing. This improvement in diagnostic rates underscores the potential of expanding access to such testing, particularly as genetic insights can significantly influence treatment options and management strategies.

Patient Access Program Details

The newly established Patient Access Program is designed to facilitate equitable access to genomic testing for pediatric patients. This program aims to streamline the testing process, making it more inclusive for varied demographics. Guidelines from leading genetic experts recommend exome testing as the primary method for diagnosing unexplained epilepsy, further emphasizing its importance in clinical practice.

Criteria for Eligibility in the Program

To qualify for the Patient Access Program, several criteria must be met, including that patients are under 18 years of age, have experienced their first unprovoked seizure before the age of 8, and have not previously undergone genetic testing confirming a neurodevelopmental disorder.

The Significance of Genetic Insights

The implications of obtaining a genetic diagnosis are profound. Research indicates that for those diagnosed, about 80% can benefit from tailored treatment plans that address their specific genetic conditions. This treatment personalization is especially crucial for pediatric epilepsy, where standard treatments may not be effective for all patients.

Insights from Industry Leaders

Melanie Duquette, Chief Growth Officer of GeneDx, highlighted the importance of advancing genomic testing, stating, "Through increased access to exome testing, more patients may not only get answers for their symptoms, but it may also allow the possibility of personalized treatments in the future." GeneDx's collaboration with key players in the pharmaceutical industry also opens doors for improving drug development that could cater to the unique needs of pediatric epilepsy patients.

Contributions from Partnership Companies

Praxis Precision Medicines, known for its extensive epilepsy-focused portfolio, is contributing significantly to this initiative. Steven Petrou, Chief Scientific Officer at Praxis, emphasized that the integration of their therapies with the Patient Access Program could expedite drug discovery processes and enhance recruitment for clinical trials, ultimately leading to better health outcomes for patients.

Stoke Therapeutics also plays a vital role in this collaboration. Dr. Barry Ticho, their Chief Medical Officer, stated, "A proper genetic diagnosis is a critical first step in getting patients with epilepsy the care and treatment they need," pointing to the transformative potential of genetic testing in managing epilepsy.

The Future of Pediatric Epilepsy Care

As GeneDx continues to expand its reach and capabilities in genetic testing, the organization is set to play a pivotal role in redefining the landscape of pediatric epilepsy care. The commitment to understanding the genetic foundations of epilepsy not only improves diagnosis but also informs treatment pathways, paving the way for enhanced healthcare delivery.

Frequently Asked Questions

What is the Patient Access Program?

The Patient Access Program by GeneDx aims to increase access to whole exome sequencing for pediatric epilepsy patients, enhancing genetic diagnosis and treatment.

Who are the partners involved in this initiative?

The partners include Biogen, Praxis Precision Medicines, and Stoke Therapeutics, each contributing unique expertise to improve pediatric epilepsy care.

Why is exome testing important?

Exome testing provides a comprehensive analysis of the genome, improving the chances of identifying genetic causes of epilepsy and guiding appropriate treatment strategies.

What criteria must patients meet to participate?

Patients must be under 18, have had their first unprovoked seizure under age eight, and not had previous genetic testing that confirmed a neurodevelopmental disorder.

How does genetic testing impact treatment options?

Genetic testing can inform personalized treatment approaches, allowing for more effective management of epilepsy based on the specific genetic causes identified.

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