Opinion|Videos|November 28, 2024
Importance of Genetic Counseling and Next-Generation Sequencing for Pediatric Epilepsy Diagnosis
Author(s)John Michael Schreiber, MD, FAES
Key Takeaways
- Genetic testing can identify mutations in pediatric epilepsy, guiding personalized treatment plans and improving patient outcomes.
- Caregivers must be informed about the benefits and limitations of genetic testing, including potential inconclusive results.
John Michael Schreiber, MD, describes how he counsels and educates caregivers about the potential benefits and limitations of genetic testing, detailing his approach to educating them before testing, how he guides them in interpreting results and transitioning to clinical management afterward, and the role of genetic counseling, including when to refer to a genetic specialist; he also provides key takeaways on the role and value of genetic testing for pediatric epilepsy and discusses how providers should utilize next-generation sequencing (NGS) moving forward.
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Episodes in this series
- Please describe how you counsel and educate caretakers regarding the potential benefits and limitations of testing.
- How do you approach educating and counseling caregivers before genetic testing?
- After genetic testing, how do you counsel caregivers when interpreting results and shifting to clinical management?
- Please speak about the role of genetic counseling and when to refer to a genetic specialist.
- Please provide your key takeaways on the role and value of genetic testing for pediatric epilepsy.
- How should providers utilize NGS moving forward?
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