Overview
Syllabus
Intro
DNA-based Genetic Testing May Miss Patients with Hereditary Cancer or Provide Inconclusive Results
Utilization of Expansive Data Sources for Variant Interpretation is Critical
Paired DNA and RNA Genetic Testing for Hereditary Cancer
RNA-Seq Identifies Mutations That May Otherwise be Missed By DNA-based Testing
Peer-Reviewed Publications
RNA-Seq Identified Inclusion of a Cryptic Exon in Intron 8 of APC Indicating a Potential DNA Variant
Clinical History
Discussion Issues
Comprehensive Assessment, Risk, & Education End-to-end solutions are needed that take advantage of Al technologies while utilizing skills of genetic counselors
Identification: Key Considerations
Virtual Assistant and Clinical Documentation
Pre-Test Education
Key Takeaways
Additional Takeaways
Taught by
Ambry Genetics