2023 AES: AES-CNF Symposium | Dilemmas in Genetic Testing: Ending the Diagnostic Odyssey in Epilepsy-Clinical Dilemmas Related to Genetic Testing

Video Transcription

Video Summary

The video presentation by Krista Habella and Krista Schatz addresses the complexities and advantages of genetic testing for epilepsy. With a new guideline recommending genetic testing for all epilepsy patients via whole exome or genome sequencing, challenges such as interpretation of results and increased demand for genetic counseling arise. Variants of uncertain significance (VUS) frequently complicate the process, making it difficult for patients and providers to understand their implications. The importance of pretest consent and genetic counseling is emphasized, aiming to ensure patients comprehend potential outcomes and avoid unnecessary anxiety. Strategies to classify VUS include evaluating family phenotypes, relevant biochemical tests, and considering population disparities in genetic databases. The talk also touches on the potential and limitations of gene therapy, particularly for newly diagnosed patients, and anticipates future advances in polygenic testing. Highlighting a team-based approach, the presenters underscore the empowerment that genetic information can provide to patients and their families.

Asset Subtitle

Presenters:
Krista Schatz, MS, CGC
Christa Habela, MD PhD

Keywords

genetic testing

epilepsy

whole exome sequencing

genetic counseling

variants of uncertain significance

gene therapy