Kaela Kraft, BS

Anna Zakas, MS, CGC

Expanding Diagnostic Yield: The Role of Concurrent DNA and RNA Sequencing in Hereditary Cancer Testing

• Summarize key findings from a large multicenter cohort evaluating concurrent DNA and RNA testing for hereditary cancer risk assessment.
• Compare diagnostic yield and variant interpretation changes (e.g., splice-effect resolution and VUS reclassification) between DNA-only and concurrent DNA/RNA testing across hereditary cancer genes.
• Evaluate the clinical implications of incorporating RNA analysis into hereditary cancer workflows, such as test selection, turnaround time, cascade testing, and patient management.