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Opinion|Videos|November 14, 2024

Key Considerations for Genetic Testing Selection in Pediatric Patients with Epilepsy

Author(s)John Michael Schreiber, MD

Key Takeaways

Genetic testing is vital for diagnosing epilepsy with a suspected genetic basis, especially in early-onset or treatment-resistant cases.
Pediatric genetic test selection considers age, clinical presentation, and family history, ensuring appropriate test choice.
Clinical factors like seizure type and comorbidities guide decision-making in genetic testing for epilepsy.
Barriers to genetic testing include limited access and challenges in interpreting complex results.

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John Michael Schreiber, MD, expands on the role of genetic testing in identifying and diagnosing epilepsy, discussing when it is clinically indicated and who should receive it, while also addressing key considerations for selecting tests for pediatric patients based on individual presentations and clinical factors, and outlining how to choose the best testing options while recognizing potential barriers and expectations for health care providers, caregivers, and patients before and after testing.

Episodes in this series

EP. 1 Epilepsy in Pediatric Population: Prevalence, Pathophysiology, and Disease Heterogeneity

EP. 1 Epilepsy in Pediatric Population: Prevalence, Pathophysiology, and Disease Heterogeneity

EP. 2 Types of Genetic Testing for Epilepsy Diagnosis

EP. 2 Types of Genetic Testing for Epilepsy Diagnosis

EP. 3 Key Considerations for Genetic Testing Selection in Pediatric Patients with Epilepsy

EP. 3 Key Considerations for Genetic Testing Selection in Pediatric Patients with Epilepsy

EP. 4 Importance of Genetic Testing for Pediatric Epilepsy Diagnosis and Treatment Decisions

EP. 4 Importance of Genetic Testing for Pediatric Epilepsy Diagnosis and Treatment Decisions

EP. 5 Importance of Genetic Counseling and Next-Generation Sequencing for Pediatric Epilepsy Diagnosis

EP. 5 Importance of Genetic Counseling and Next-Generation Sequencing for Pediatric Epilepsy Diagnosis

Please expand on the role of genetic testing in epilepsy identification and diagnosis.
1. When is genetic testing clinically indicated, and who is best suited to receive genetic testing?
Please discuss key considerations when selecting genetic tests for pediatric patients with epilepsy.
1. How does a patient’s presentation and other clinical factors influence your decision-making?
Please outline how you choose the best testing option for patients. What, if any, barriers exist?
1. What should HCPs, caregivers, and patients expect before and after the test?

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