Dilemmas in Genetic Testing: Ending the Diagnostic Odyssey in Epilepsy

Agenda 
Friday •  December 1, 2023 
Orlando, FL 

Welcome 
Scott Perry, MD
Head of Neurosciences
Jane and John Justin Institute for Mind Health 

Patient & Caregiver Dilemmas: What I Would Like Clinicians to Know 
Tristin West
Parent 

Clinical Dilemmas Related to Genetic Testing 
Christa W. Habela, MD, PhD
Johns Hopkins University 

Krista Schatz, MS, CGC
Johns Hopkins University 

Genetic Testing in the Transition to Adult Care 
Danielle Andrade, MD, MSc, FRCPC, CSCN (EEG)
Professor of Medicine (Neurology), University of Toronto
Medical Director Epilepsy Program
Director, Adult Genetic Epilepsy (AGE) Program, University of Toronto
Co-Chair, ILAE Transition Task Force 

Dilemmas in Clinical Care Scenarios 
Dalila Lewis, MD, FAAP
Medical University of South Carolina 

Treatment Dilemmas 
Scott Demarest, MD, MSCS 
Clinical Director Precision Medicine Institute, Children’s Hospital Colorado
Associate Professor of Pediatrics and Neurology, University of Colorado 

Key Takeaways
Sarah Aminoff Kelley, MD
Associate Professor of Clinical Neurology
Johns Hopkins Hospital 

Resources 

• AES-CNF 2023 Symposium Slide Set 
• Answers to Submitted Questions
• CNF Transition of Care Toolkit
• Spanish version of the Transition of Care Toolkit
• Dravet Syndrome: A quick transition guide for the adult neurologist
• CNF genetic testing 101 for families  
• Educational webinar for families  
• CNF Family Support Program  
• Shortening the Diagnostic Odyssey 
• Epilepsy Education Hub 
• Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research AES 2022 Symposium (Slides) and Presentation Recording 

Resources from our Funding Partners 

• Seizures are Signs Website  
• International Foundation for CDKL5 Research Website 
• Epilepsy Foundation Genetic Testing Page 

Articles 

• McKnight D., Morales A., Hatchell K.E., et al. (2022). Genetic testing to inform epilepsy treatment Management from an international study of clinical practice. JAMA Neurology, 79(12), 1267-1276. https://doi.org/10.1001/jamaneurol.2022.3651   
• Moloney P., Dugan P., Widdess-Walsh P., et al. (2022). Genomics in the presurgical epilepsy evaluation. Epilepsy Research, 184 (106951), 920-1211   https://doi.org/10.1016/j.eplepsyres.2022.106951   
• Richards S., Aziz N., Bale S., et al. (2015). Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17(5), 405-424  https://doi.org/10.1038/gim.2015.30  
• Sheidley, B.R., Malinowski, J., Bergner, A.L., et al. (2021). Genetic testing for the epilepsies: A systematic review. Epilepsia, 63(2), 375–387. https://doi.org/10.1111/epi.17141  
• Smith, L., Malinowski, J., Ceulemans, S., et al. (2023). Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. Journal of Genetic Counseling, 32(2), 266–280. https://doi.org/10.1002/jgc4.1646 

Thank you to our 2023 sponsors: 

Industry Partners 

• Jazz Pharmaceuticals  
• Encoded Therapeutics 

Advocacy Partners 

• Epilepsy Foundation 
• International Foundation for CDKLF Research  
• Dravet Syndrome Foundation  
• Phelan-McDermid Syndrome Foundation 
• Epilepsy Alliance of America 
• Pediatric Epilepsy Research Foundation