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