NANOS 2018 Skill Workshop

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Identifier 20180307_nanos_genetictesting1_01
Title NANOS 2018 Skill Workshop
Creator Veeral Shah, MD, PhD
Subject Genetic Testing
Description This CPNO event is to promote the role of practicing neuro-ophthalmologists to translate genetic testing and genomic medicine tools into management and intervention. With increasing accessibility of genetic testing, the burden of ordering, interpreting, and translating genetic testing information into clinical management, many times falls on the practicing neuro-ophthalmologist. With limited availability of a geneticist or genetic counselor, neuro-ophthalmologists may feel overwhelmed when evaluating genomic medicine data and translating this information into clinical management and genetic counseling. The purpose of this new skill transfer workshop is to introduce the use of online genomic tools and databases and to empower neuro-ophthalmologist to interpret genetic testing and translate this information into clinical management. This course will begin with a brief didactic session on genetic testing followed by a representative neuro-ophthalmology case-based presentation that applies and utilizes online-based genomic tools. At the conclusion of this course, the attendees will be able to: 1) identify candidates for genomic testing, and select the appropriate; test for a patient; 2) learn the different type of genetic testing: single-, multi-gene assays, and whole exome/genome sequencing; 3) utilize web-based databases (i.e. OMIN, ClinVar) that describe genotype, phenotype, and pathogenicity to make accurate diagnosis of genetic diseases; 4) interpret genomic medicine data and translate this information into clinical management and genetic counseling. The program's goal is to introduce a framework to evaluate genetic testing that would have broad appeal among both practicing adult and pediatric neuro-ophthalmologists.
Relation is Part of NANOS Annual Meeting 2018: NANOS 2018 Skill Workshop
Contributor Primary Veeral Shah, MD, PhD
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2018-05
Format video/mp4
Source 2018 North American Neuro-Ophthalmology Society Annual Meeting
Rights Management Copyright 2018. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s63z29z4
Setname ehsl_novel_nam
Date Created 2018-05-23
Date Modified 2018-05-23
ID 1326505
Reference URL https://collections.lib.utah.edu/ark:/87278/s63z29z4
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