Leveraging Innovation to Improve the Identification of Patients with Hereditary Cancer

This session examines how RNA genetic testing can improve the diagnostic yield of hereditary cancer panel testing through data, peer-reviewed evidence, and case examples. It also presents an end-to-end workflow using risk-assessment chatbots, genetics resources, and genetic counseling.

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