GeneDx Announces Patient Access Program to Expand Access to Exome Testing for Pediatric Epilepsy Patients

GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced the first-of-its-kind patient access program, developed in partnership with leading biopharma companies, which aims to increase access to exome sequencing for pediatric epilepsy patients.

“Receiving a genetic diagnosis can be critical in a child’s journey toward effective treatment and care, and we are thrilled our biopharma counterparts recognize the value that exome testing offers to pediatric epilepsy patients over traditional panel testing,” said Katherine Stueland, Chief Executive Officer at GeneDx. “We believe that cost should never be a barrier in accessing critical health information and we are steadfast in our commitment to investing in partnerships that allow us the opportunity to expand access to exome and genome testing for all patients who can benefit.”

Through the patient access program, GeneDx is helping to ensure more equitable care across patient populations. While payor coverage for exome testing has improved, this program may help expand access of necessary genetic testing for pediatric epilepsy patients.

Exome testing is recommended as a first-line test for individuals with unexplained epilepsy by the National Society of Genetic Counselors and these guidelines are endorsed by the American Epilepsy Society. 1 In addition to these medical guidelines, research shows that a genetic diagnosis can further guide clinical decisions, with patients experiencing up to 90% seizure reduction in some cases and up to 80% of cases having implications for treatment and management. 2 However, despite the overwhelming clinical support and guidelines, access to testing is sparse, and genetic diagnosis for rare disorders, including epilepsy, can take up to 5 years. 3

Expanding access to exome testing not only ensures that more patients receive a diagnosis, with exome diagnostic rates for epilepsy at nearly 25% compared to the less than 20% diagnostic rate offered by multi-gene panels, 4 but it also creates the opportunity for GeneDx to better understand gene-disease relationships through the robust data and insights delivered with an exome result. The utilization of this program will continue to fuel GeneDx’s industry-leading rare-disease data set, which can help support biopharma partners to bring therapies to patients faster, by accelerating clinical trial recruitment and drug discovery.

To be eligible for the Patient Access Program: Epilepsy patients must meet certain criteria, including the following:

Patient must reside in the United States

Patient’s ordering provider must be authorized under applicable law to order genetic testing in the United States

Patient must have experienced their first unprovoked seizure under 8 years of age

Patient must not have had prior genetic testing performed by a clinical laboratory which confirmed a diagnosis of a neurodevelopmental disorder (NDD)

Patient must be less than 18 years of age

The new patient access program is rolling out to select ordering providers today, with a complete availability in July. To learn more, visit genedx.com/epilepsy .

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 one of 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.

Contact: Press@genedx.com

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References 1. Smith L, Malinowski J, Ceuleman S, et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2023 Apr;32(2):266-280. doi: 10.1002/jgc4.1646. 2. Sheidley BR, Malinowski J, Bergner AL, et al. Genetic testing for the epilepsies: A systematic review. Epilepsia . 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141. 3. Marwaha S, Knowles JW, and Ashley EA. A guide for the diagnosis of rare and undiagnosed disease. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w. 4. Butler L, et al. Exome-based testing for patients with seizures: Advantages over panel-based testing. Poster presented at American Epilepsy Society Annual Meeting; December 2, 2023; Orlando, FL.