1. Consensus Recommendations to Optimize the Detection and Reporting of NTRK Gene Fusions by RNA-Based Next-Generation Sequencing.
- Author
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Stockley TL, Lo B, Box A, Gomez Corredor A, DeCoteau J, Desmeules P, Feilotter H, Grafodatskaya D, Hawkins C, Huang WY, Izevbaye I, Lepine G, Papadakis AI, Park PC, Sheffield BS, Tran-Thanh D, Yip S, and Sound Tsao M
- Subjects
- Humans, RNA therapeutic use, Consensus, Oncogene Proteins, Fusion genetics, Canada, High-Throughput Nucleotide Sequencing, Gene Fusion, Receptor, trkA genetics, Receptor, trkA therapeutic use, Neoplasms drug therapy
- Abstract
The detection of gene fusions by RNA-based next-generation sequencing (NGS) is an emerging method in clinical genetic laboratories for oncology biomarker testing to direct targeted therapy selections. A recent Canadian study (CANTRK study) comparing the detection of NTRK gene fusions on different NGS assays to determine subjects' eligibility for tyrosine kinase TRK inhibitor therapy identified the need for recommendations for best practices for laboratory testing to optimize RNA-based NGS gene fusion detection. To develop consensus recommendations, representatives from 17 Canadian genetic laboratories participated in working group discussions and the completion of survey questions about RNA-based NGS. Consensus recommendations are presented for pre-analytic, analytic and reporting aspects of gene fusion detection by RNA-based NGS.
- Published
- 2023
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