WGS: @ AES New Data re Epilepsy & Exome Seq; Clinical & Ins

STAMFORD, Conn., Dec. 01, 2023 (GLOBE NEWSWIRE) -- GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced new data to be presented at the American Epilepsy Society (AES) annual meeting in Orlando, Florida, December 1-5, 2023, that supports the use of exome sequencing as a first-tier test for patients with epilepsy.

In a new study of 22,500 individuals with a clinical history of seizures or suspected seizures, researchers at GeneDx found that:

These data were collected between 2019 and 2022. In 2022, guidelines were published by the National Society of Genetic Counseling (NSGC) and endorsed by AES, recommending exome as a first-tier test for individuals with unexplained epilepsy.

GeneDx will also present data at the conference that shows insurance may offer better coverage for exome sequencing than multi-gene panels for patients with epilepsy. The review of publicly available coverage policies from 12 national payers, regional payers, state Medicaid programs, and laboratory benefit managers, revealed that for outpatient individuals with epilepsy, broader payer coverage exists for exome sequencing than for multi-gene panels.

“The combination of these studies paints a striking picture for the use of exome sequencing for patients with epilepsy,” said Paul Kruszka, Chief Medical Officer at GeneDx. “Between expanding payer coverage, the diagnostic power of exome sequencing, and the clinical guidelines, providers should feel confident in offering exome sequencing as a first-tier test to their patients. The time is now for exome sequencing to be embraced as the standard of care for this patient population.”

Epilepsy impacts approximately 1.2% of the US population, with just under a half a million cases in pediatric patients. 2 Nearly 50% of unexplained epilepsy cases likely have a genetic cause. 1 Identifying the specific disease-causing variant in epilepsy patients enables a more precise treatment plan, including avoiding, stopping, or initiating specific medication or diet recommendations, and can qualify patients for clinical trials.

At the conference, GeneDx will also be hosting an industry sponsored symposium discussing the ways in which exome sequencing can help epilepsy patients find answers sooner. In that panel discussion:

Dr. Heather Mefford, MD, PhD, FACMG, of the Center for Pediatric Neurological Disease Research at St. Jude’s Children’s Research Hospital, will review the current guidelines, which support exome sequencing as a first-tier test for patients with epilepsy, and describe the clinical utility for patient care and management.
Full 2023 AES Conference participation:

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