Explore the role of genetic diagnosis in inherited cardiac conditions in this second part of a two-part lecture. Delve into the recent recognition of the familial nature of cardiac conditions, including non-syndromic thoracic aortic aneurysms. Learn about different types of genetic testing, such as NGS screening and targeted analysis using Inherited Cardiac Conditions (ICC) gene panels. Understand the process of variant assessment and how different classes of variants are used for cascade and family screening. Compare cardiac specialist NGS panel screening to cascade testing, and examine the clinical sensitivity for inherited cardiac indications. Discover the clinical utility of cardiac genetic testing through a case study on Arrhythmogenic Cardiomyopathy (ARVC). Gain insights into the implications of cardiac genetics for clinical practice from Dr. Deborah Morris-Rosendahl, Head of the Clinical Genetics and Genomics Laboratory at Royal Brompton and Harefield Hospitals and Scientific Director of the South East Genomics Laboratory Hub.
The Role of Genetic Diagnosis in Inherited Cardiac Conditions - Part 2
Imperial College London via YouTube
Overview
Syllabus
Intro
Full recognition of the familial nature of cardiac conditions is recent
The familial nature of non-syndromic thoracic aortic aneur
Two different types of genetic testing
NGS screening and targeted analysis using an Inherited Cardia Conditions (ICC) gene panel
Variant assessment: How does one separate the wheat from
Different classes of variants can be used for different types of cascade/family screening
Cardiac specialist NGS panel screening vs cascade testing 201
Clinical Sensitivity for the inherited cardiac indications (ICC)
Clinical Utility of cardiac genetic testing: A case of Arrhythmogenic Cardiomyopathy (ARVC)
Cardiac Genetics and implications for clinical practice
Taught by
Imperial College London
