The Clinical Utility of Genetic Testing in Autism Spectrum Disorder: When Findings Impact Care

Tuesday, April 30, 2019
The Clinical Utility of Genetic Testing in Autism Spectrum Disorder: When Findings Impact Care
Tuesday, April 30, 2019 11:00 AM - 12:00 PM (Pacific Time)

Description of Program Content:
Autism spectrum disorder (ASD) encompasses several neurodevelopmental features presenting as varying degrees of social impairment, communication ability, and propensity for restricted interests and repetitive behaviors.  In recent years, our understanding of the genetic components contributing to ASD has improved through the work of several large cohort studies.  Through this work, an extensive list of gene candidates has been identified which has resulted in the development of large exome-based panels for testing of individuals with ASD and intellectual disability phenotypes.  Some studies have also identified ASD with characteristic clinical features that result in a change in the patient’s clinical care.  This webinar explores the current landscape of the genetics of ASD, the clinical utility of large gene panels in the molecular diagnosis of ASD, and presents examples of ‘actionable autism’ cases in which testing results in a change in clinical care.

Measurable Learning Objectives 
At the end of this activity the participant will be able to:
1. Describe the genetic diversity behind autism spectrum disorders and the growing list of gene candidates.
2. Explain the clinical utility of genetic testing for autism spectrum disorder and related syndromes.
3. Identify examples of genes associated with autism spectrum disorder that also include secondary clinical features that may result in a change in clinical care for the patient.

Dr. Greg Fischer, PhD
Human Molecular Geneticist
Scientific Director of DNA Banking
Dr. Greg Fischer joined PreventionGenetics in October 2016 as a Human Molecular Geneticist. Greg’s expertise at PreventionGenetics focuses on autism spectrum disorders and diseases associated with autoimmunity (such as Celiac disease). Dr. Fischer earned his BSc in Biochemistry and Molecular Biology from the University of Wisconsin-Eau Claire in 2011 and his PhD in Genetics from the University of Wisconsin-Madison in 2016.  He is also the Scientific Director of PreventionGenetics’ DNA Banking service, PGDNABANK.


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