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C111 - Principles of Genomic Medicine: Clinical Exome Sequencing in Neurologic Disease

Event Time: Tuesday April 25, 2017 7:00 am to 9:00 am
Topic(s): General Neurology
Director(s): Brent Fogel MD, PhD, FAAN
Description: Faculty will discuss the concept of genomic medicine and its use in clinical practice. Available diagnostic testing designed to comprehensively assess the human genome for disease-causing mutations will be discussed (i.e., clinical exome sequencing). Types of mutations identified will be described and presented in the context of their role in neurogenetic disease. The indications for the clinical use of this technology will be discussed 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 will be discussed and strategies presented to resolve such issues. Expected results from such testing will be discussed and strategies presented 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: Interpersonal and Communication Skills, Medical Knowledge, Patient Care

Program Speakers - Tentative

Start/End Time Title Faculty
7:00 AM - 7:30 AM The Use of Clinical Exome Sequencing in the Diagnosis of Neurologic Disease Brent L. Fogel MD, PhD, FAAN 
7:30 AM - 8:00 AM Medicolegal and Ethical Issues in Clinical Exome Sequencing Wayne Grody MD, PhD 
8:00 AM - 9:00 AM Case Presentations and Examples of Clinical Interpretation of Exome Sequencing Results Brent L. Fogel MD, PhD, FAAN, Wayne Grody MD, PhD, Hane Lee PhD 

Disclosures

Speaker Disclosure
Brent L. Fogel, MD, PhD, FAAN Dr. Fogel has nothing to disclose.

Wayne Grody, MD, PhD Dr. Grody has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with California Cryobank.

Hane Lee, PhD Dr. Lee has nothing to disclose.

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