The rapid expansion of molecular oncology testing has presented new challenges for clinical laboratories focused on developing and validating novel molecular oncology tests. Two clinical scenarios where these challenges have been notable are the RNA assays for gene fusion detection and liquid biopsy assays. The expanding role of targetable cancer gene fusions has made RNA assays that target one partner particularly appealing, but it is increasingly difficult to identify appropriate positive controls for these multiplexed assays. The advent of cell-free DNA testing in plasma has also introduced extremely rare variant detection through ultra-deep sequencing with innovative technologies and bioinformatic processing. This session will highlight the promises and pitfalls of detecting new variants in oncology and discuss strategies for how to clinically validate findings.
How to Validate Rare Findings - Focus on Novel Fusions
John Iafrate, MD, PhD, Massachusetts General Hospital, Boston, MA, USA
Did I Find the Right Needle in the Haystack? Sensitivity and Specificity Challenges Revealed by Ultra-accurate NGS
Rosana Risques, PhD, UW Pathology, Seattle, WA, USA
Objectives:
- Understand the challenges associated with validating rare cancer mutations.
- Describe validation strategies for multiplexed RNA assays.
- Recognize the potential for ultra-low cancer-related variants in normal tissue to interfere with cell-free tumor DNA assays.
Duration: 1.00 hr
Recording Date: November 8, 2019
CME/CMLE credit: 1.00 hr
Last day to purchase course and CE claim credit: December 24, 2022
