Overview
This webinar aims to teach participants how to summarize the types of patients typically seen in clinical genetics practice, compare genetic testing methodologies, and identify workflows for clinical implementation of exome sequencing as a first-tier test for rare genetic syndromes and neurodevelopmental disorders. The course covers topics such as test choice based on phenotype and genetic changes, expected yield of exome sequencing, and potential barriers to its implementation. The intended audience includes healthcare professionals involved in clinical genetics, genetic counseling, and molecular biology.
Syllabus
Intro
Phenotype Guides Test Choice
Type of Genetic Change Guides Test Choice
Who is Ordering the Test?
Balanced Rearrangements Causing Phenotype
Does Where You See the Patient Matter for Expected Yield of Exome Sequencing?
Gubbels et al.
Lower Yield Neonatal Phenotypes
Exome Clinical Utility for NDD
Consensus Statement: Exome First
Potential Barriers to Exome First
Exome Sequencing as a First Tier Test
Taught by
Ambry Genetics