2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-The Clinical Utility of Genetic Testing in Autism Spectrum Disorder: When Findings Impact Care

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

Video Transcription

Video Summary

The video is a presentation by Greg Fisher, a human molecular geneticist at Prevention Genetics, about the genetic testing for Autism Spectrum Disorder (ASD) and its impact on patient care. Fisher discusses the genetic diversity behind ASD and the various gene candidates associated with it. He also explains the clinical utility of genetic testing for ASD and related syndromes, highlighting examples of genes that are associated with ASD and how their identification can lead to changes in clinical care. Fisher emphasizes the overlap and complexity of neurodevelopmental disorders and the importance of deep phenotyping in understanding the genetic basis of ASD. He discusses the prevalence and increasing frequency of ASD, noting its significant financial burden on the healthcare system. Fisher concludes by discussing the different testing options available for ASD, from small gene panels to exomes and genomes, and highlights the importance of keeping these panels updated to incorporate new genetic findings. Overall, the video provides insights into the genetic basis of ASD and the potential benefits of genetic testing in improving patient care.

Asset Subtitle

PreventionGenetics

Keywords

genetic testing

Autism Spectrum Disorder

patient care

genetic diversity

gene candidates

clinical utility

neurodevelopmental disorders