NANOS 2018 Skill Workshop

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.