N2 - Neuroscience in the Clinic: Interpretations of Genetic Results

Event Time: Monday May 6, 2019 1:00 pm to 3:00 pm
Topic(s): General Neurology, Neuromuscular and Clinical Neurophysiology (EMG)
Director(s): Massimo Pandolfo MD, FAAN, Karen Marder MD, MPH, FAAN
Description: As genetic testing becomes more prevalent, the interpretation of results becomes more challenging for the practicing neurologist. These tests may report numerous variants whose relevance in causing the phenotype is difficult to determine. This program aims to provide guidance on how to identify pathogenic mutations, how to interpret the often reported "variants of unknown significance", and how to communicate this information to the patients and their families. The program will consist of a presentation of a complex case, followed by discussion that will illustrate the science that led to the current state of the art, where it is expected to move, how this impacted practice, what are the unmet needs in the clinic.
Completion Message: Participants should become familiar with the issues involved in the interpretation of genetic testing results, including the assessment of the potential pathogenicity of the identified genetic variants and their correlation with phenotype.
CME Credits: 2
Core Competencies: Patient Care, Professionalism, Medical Knowledge

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