2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Surprise Diagnoses - Whole Genome Sequencing Uncovers the Unexpected

Video Transcription

Video Summary

In this webinar, Christine Stanley, Chief Director of Clinical Genomics at Variantix, discusses the use of whole-genome sequencing (WGS) in diagnosing genetic disorders. WGS provides a comprehensive data platform for genetic testing, allowing for the detection of various types of genetic changes. Stanley explains that while other testing methods, such as exome and panel sequencing, focus on specific regions of the genome, WGS sequences the entire genome, providing a more complete and unbiased dataset. She discusses the challenges and limitations of other sequencing methods in detecting smaller or more complex genetic variants. Stanley presents several case studies where WGS successfully identified pathogenic variants in patients with previously undiagnosed genetic disorders. She explains how WGS can help unify and streamline the diagnostic process by encompassing multiple testing methods and identifying all relevant variant types in a single test. The webinar highlights the benefits of WGS, including shorter diagnostic odyssey, comprehensive testing, and cost-effectiveness compared to sequential testing methods. Stanley concludes by encouraging interested individuals to contact Variantix for more information on ordering WGS through their genomic unity test.

Asset Subtitle

Variantyx

Keywords

whole-genome sequencing

genetic disorders

comprehensive data platform

genetic testing

pathogenic variants

diagnostic process