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GeneDx Presents New Data at the American Epilepsy Society Annual Meeting Demonstrating That Exome Sequencing Outperforms Multi-Gene Panels for Patients with Epilepsy
New research from one of the largest exome sequencing studies of patients with epilepsy adds to the mounting evidence that exome sequencing offers superior
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[{"type":"text","content":"New research from one of the largest exome sequencing studies of patients with epilepsy adds to the mounting evidence that exome sequencing offers superior clinical results compared to multi-gene panels\nSTAMFORD, 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: Nearly 25% of this patient cohort received a genetic diagnosis through exome sequencing. Previously published literature cites the diagnostic rate of multi-gene panels for patients with epilepsy at 19%.1Notably, 78% of patients in this exome positive cohort had prior genetic testing, suggesting that the previous tests did not resolve all clinical questions.The gap in diagnosis between exome sequencing and the multi-gene epilepsy panels can be largely attributed to the fact that more than half (57%) of seizure-related genes are not included on many commercially available epilepsy panels.Of those patients with a positive genetic diagnosis from exome sequencing, 11% had a variant in a treatment related gene. 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 se...