Overview
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Explore how concurrent DNA and RNA genetic testing enhances the detection of clinically-actionable variants and reduces variants of unknown significance (VUS) in hereditary cancer testing. Learn about the latest advancements in diagnostic yield improvement through this informative webinar presented by Dr. Rachid Karam and moderated by Tara Namey, MS, LCGC. Discover the benefits of RNA sequencing in blood, understand the workflow and limitations of this approach, and examine retrospective analyses of variants. Gain insights into how RNA can detect novel variants, review new case detection data, and understand the impact on DNA analysis and variant assessment. Conclude with recommendations and a Q&A session to deepen your understanding of this cutting-edge approach to increasing the positive yield of hereditary cancer genetic testing.
Syllabus
Introduction
Reminders
Logistics
Rashid Karim
Presentation Objectives
How can we improve the positive yield
How to improve the positive yield
Data on the positive yield
RNA Sequencing in Blood
Improving the Diagnostic Use of RNA
Retrospective Analysis of Variants
Limitations
Workflow
Forecast
How RNA can detect novel variants
New case detection
New data
Data
DNA Analysis
Population Database
RNA Genetic Testing
Variant Assessment
Questions
Recommendations
Taught by
Ambry Genetics