C212 - Principles of Genomic Medicine: Clinical Exome Sequencing in Neurologic Disease

Event Time: Thursday May 9, 2019 7:00 am to 9:00 am
Topic(s): General Neurology
Director(s): Wayne Grody MD, PhD
Description: Faculty will discuss the concept of genomic medicine and its use in clinical practice, as well as available diagnostic testing designed to comprehensively assess the human genome for disease-causing mutations (i.e., clinical exome sequencing). Types of mutations identified will be described and presented in the context of their role in neurogenetic disease. Faculty will discuss indications for the clinical use of this technology for various common neurologic diseases (e.g., movement disorders, epilepsy, neurodevelopmental disorders, metabolic disease); ethical challenges, including informed consent, appropriate genetic counseling, the reporting of incidental findings, and the detection of variants of unknown significance; strategies to resolve such issues; and expected results from such testing, and strategies for effective clinical interpretation.
Completion Message: Participants should be able to understand the principles of genomic medicine and the basics of common genomic diagnostic testing methodologies (e.g., clinical exome sequencing); effectively educate, counsel, and consent patients and their families regarding genomic diagnostic testing; understand, interpret, and communicate genomic diagnostic testing results to patients; and appreciate the ethical challenges inherent in genomic medicine and identify strategies to address them in clinical practice.
CME Credits: 2
Core Competencies: Patient Care, Medical Knowledge, Systems-Based Practice

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