Join Dr. Bermeo in a conversation with Dr. Elizabeth Gerard, and Dr. Christa Habela, as they discuss the article, " Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research ". Click here to read the article. This podcast was sponsored by Marinus Pharmaceuticals. We’d like to acknowledge Epilepsy Currents podcast editor Dr. Adriana Bermeo-Ovalle, contributing editor Dr. Rohit Marawar, and the team at Sage. In episode nine of the Epilepsy Currents podcast, Dr. Adriana Bermeo discusses the evolving role of genetic testing in epilepsy with Dr. Krista Habela and Dr. Elizabeth Gerard. They explore how genetic insights are enhancing diagnosis and treatment, highlighting the rapid advancements and future potential of this field. Key Takeaways Technological Advances: Since the first epilepsy gene discovery in 1997, technological advancements such as next-generation sequencing have dramatically accelerated gene identification, enhancing genetic testing's accessibility and effectiveness.Basic Genetic Concepts Clarified: Dr. Gerard explains critical genetic components—genes, chromosomes, and exomes—and their relationship to different genetic tests, providing a foundational understanding crucial for grasping how genetic variations impact epilepsy. Diagnostic Yield and Personalized Treatment: Genetic testing varies in diagnostic yield based on patient-specific factors like age of onset and associated conditions. Higher yields in targeted groups underscore its role in developing precise, personalized treatment plans.Impact on Patient Understanding and Future Testing: Genetic testing not only aids in diagnosis but also provides patients and caregivers with valuable explanations for the conditions, reducing uncertainty and informing better treatment choices. The future of genetic testing in epilepsy includes potential advancements in gene therapy and precision medicine, aiming to develop targeted treatments based on specific genetic profiles. Overcoming Barriers to Integration: Challenges like insurance coverage, the availability of genetic counseling, and the need for provider education must be overcome as genetic testing becomes integral to standard epilepsy care. This integration promises to streamline diagnostics and potentially reduce the need for other invasive tests. Adrianna Bermeo-Ovalle, MD (Host): Why do I have epilepsy? What causes epilepsy? Are my children or other family members at increased risk of developing epilepsy as well? These are some of the most frequent questions I hear in the clinic these days. In a healthcare environment which turns more and more towards personalized medicine, genetics presents a unique opportunity to answer some of our patients most pressing questions. Today, we will explore the current indications and use of genetic testing in epilepsy and we'll take a peek into the future of epilepsy diagnosis and care. Marinus Pharmaceuticals is the proud sponsor of episode number nine of Epilepsy Currents podcast. I am your host, Adriana Bermejo. I am the senior podcast editor for Epilepsy Currents, the official journal of the American Epilepsy Society. Let me first welcome Dr. Christa Habela. Dr. Habela is a Child Neurologist, Epileptologist, and the Director of the Long Term EEG Monitoring Program and the Epilepsy Genetics Clinic at the John Hopkins Hospital in Baltimore, Maryland. Dr. Habela is the author of the review, Genetic Testing in Epilepsy, Improving Outcomes and Informing Gaps in Research. This article was published online first on March of 2024 in Epilepsy Currents. Dr. Habela, thank you for joining us today. Christa Whelan Habela, MD, PhD: Thank you so much for having me. Host: It is also my pleasure to welcome Dr. Elizabeth Zoe Gerard. Dr. Gerard is an Associate Professor of Neurology at the Northwestern Feinberg School of Medicine and the Founding Director of the Women in Epilepsy Program, as well as the Adult Epilepsy Genetics Clinic at Northwestern. Dr. Gerard, thank you for being with us. Elizabeth E. Gerard, MD: Thank you so much for having me. It's my pleasure to be here. Host: Dr. Habela, your review starts with a very nice historical perspective, a historical overview of the development of genetic testing in epilepsy. Can you please help us understand how did we get where we are today? Christa Whelan Habela, MD, PhD: It has always been generally thought that epilepsy was a genetic disorder, even prior to any discovery of epilepsy genes. And the first gene associated with epilepsy was only discovered in 1997, and this was for the nicotinic acetylcholine receptor, and then from 1997 to 2007, only 10 more genes were discovered, and this was because we were using, very robust, but very slow and expensive Sanger Sequencing. Early in the 2000s, the first untargeted genomic testing, came into clinical use, and this was the chromosomal microarray. This can be thought of as a very high resolution karyotype, and allowed us to look for...
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