Genetics and Arrhythmias: Beyond Mendel's Peas-Genetics Functional Testing: Are We Ready for Prime Time? (Presenter: Alfred L. George, MD)

Genetics Functional Testing: Are We Ready for Prime Time? (Presenter: Alfred L. George, MD)

Video Transcription

Video Summary

Dr. Al George from Northwestern University discusses the potential of genetics and functional testing in clinical genetic testing. He highlights the challenge of classifying variants of unknown significance (VUS) and the need for additional methods to determine the pathogenicity of these variants. Dr. George introduces the use of in vitro functional evaluation to assess the functional consequences of genetic variants in ion channel genes associated with arrhythmia susceptibility. He presents the patch clamp recording technique as a gold standard method for evaluating ion channels and discusses the limitations of the manual patch clamp method in terms of speed and throughput. However, he also introduces automated patch clamp technologies that allow for higher throughput measurements. Dr. George presents data on the functional classification of variants in the KCNQ1 gene and discusses the potential role of functional testing in improving the classification of VUS. He concludes by highlighting the challenges in implementing functional testing in clinical practice, including turnaround time, standardization of reporting, CLIA certification, and cost considerations.

Meta Tag

Lecture ID 6684

Location Room 203

Presenter Alfred L. George, MD

Role Invited Speaker

Session Date and Time May 09, 2019 10:30 AM - 12:00 PM

Session Number S-013

Keywords

genetics

functional testing

variants of unknown significance

ion channel genes

patch clamp recording technique

classification of VUS