Explore the potential of RNA testing as the next frontier in clinical genetics for hereditary cancer diagnosis. Learn how concurrent DNA and RNA genetic testing can increase detection of clinically-actionable variants and reduce variants of unknown significance (VUS). Discover the basic principles of RNA genetic testing, its role in variant detection and classification, and its overall impact on diagnostic yield. Examine specific case examples and understand the challenges of retrospective RNA testing. Gain insights into the process of simultaneous DNA and RNA analysis, database building, and its applications in various cancer types, including pancreatic cancer. Compare clinical lab approaches with translational lab methods and evaluate the impact on positive yields and overall diagnostic outcomes. Understand the globalization of this approach, reporting methods, and its potential implications for inherited versus de novo mutations. Consider the future of RNA testing in relation to whole genome sequencing and its applicability across different genes.
Will RNA Testing Be the Next Del-Dup for Clinical Genetics - Webinar - Ambry Genetics
Overview
Syllabus
Introduction
Disclosure
Objectives
DNA
WholeTranscriptome Sequencing
How can we improve the diagnostic yield
How can we classify alterations
The value of RNA
Challenges of retrospective RNA testing
RNA genetic testing
Simultaneous analysis
How this works
Building the database
Pancreatic cancer
Clinical lab vs translational lab
Impact on diagnostic yield
Impact on positive yields
GWRS
Overall impact
Community Health Network
Patient Story
Globalizing
Reports
Summary
Questions
Inherited vs denovo mutations
How do we make the determination
Two questions
Explaining RNA testing
Should RNA testing be considered
RNA testing vs whole genome sequencing
Are all genes testable by DNA
Taught by
Ambry Genetics
