In a new study of 22,500 individuals with a clinical history of seizures or suspected seizures, researchers at
- 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%.1
- Notably, 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
“The combination of these studies paints a striking picture for the use of exome sequencing for patients with epilepsy,” said
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,
- Dr.
Heather Mefford , MD, PhD, FACMG, of theCenter for Pediatric Neurological Disease Research at St. Jude’s Children’sResearch 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. - Parents of three individuals with epilepsy will share their lived experiences with genetic testing, including the psychological benefits of having a precise diagnosis, having a clearer understanding of how their child’s symptoms may change as they age, and the sense of belonging and community a genetic diagnosis can provide.
Full 2023
Platform Session Clinical Research /Poster 1.204: Exome-Based Testing for Patients with Seizures: Advantages over Panel-Based Testing (Michelle M Morrow,Kirsty McWalter ,Elizabeth Butler ,Lindsay Havens , Melanie P Napier, Karen E Wain,Paul Kruszka )- Poster 2.482: Payer Coverage for Epilepsy: Broader Coverage for Exome Sequencing Compared to Multigene Panels and Genome Sequencing (
Sarah Soto ,Stephanie Gandomi ,Jane Juusola ) - Corporate Satellite Symposium: The Clinical and Personal Value of a Genetic Diagnosis for Epilepsy: Patient and Caregiver Perspectives
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References
1. 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. Epub 2021 Dec 10.
2. Zack MM, Kobau R. National and State Estimates of the Numbers of Adults and Children with Active Epilepsy —
Source:
2023 GlobeNewswire, Inc., source