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Consensus Recommendations to Optimize the Detection and Reporting of NTRK Gene Fusions by RNA-Based Next-Generation

Tracy L Stockley1,2,3, Bryan Lo4, Adrian Box5

  • 1Laboratory Medicine Program, University Health Network, Toronto, ON M5G 2C4, Canada.

Current Oncology (Toronto, Ont.)
|May 15, 2023
PubMed

Insights

RNA-based next-generation sequencing (NGS) detects gene fusions for cancer therapy. This study provides consensus recommendations for optimizing RNA-based NGS laboratory testing to improve biomarker detection for targeted treatments.

Area of Science:

  • Molecular diagnostics
  • Oncology
  • Genetics

Background:

  • RNA-based next-generation sequencing (NGS) is increasingly used in clinical genetics for oncology biomarker testing.
  • Detecting gene fusions guides targeted therapy selection for cancer patients.
  • The CANTRK study highlighted the need for standardized best practices in RNA-based NGS for gene fusion detection.

Purpose of the Study:

  • To develop consensus recommendations for optimizing RNA-based NGS gene fusion detection.
  • To establish best practices for laboratory testing in clinical genetic settings.
  • To improve the accuracy and reliability of oncology biomarker testing.

Main Methods:

  • A working group comprising representatives from 17 Canadian genetic laboratories was formed.
  • Discussions and surveys were conducted among laboratory representatives regarding RNA-based NGS.
  • Consensus recommendations were developed based on collective input.

Main Results:

  • Consensus recommendations were established for key aspects of RNA-based NGS.
  • Recommendations cover pre-analytic, analytic, and reporting phases of gene fusion detection.
  • The study addresses the need for standardized protocols in clinical genetic testing.

Conclusions:

  • Standardized best practices are crucial for optimizing RNA-based NGS in clinical laboratories.
  • Implementing these recommendations can enhance the detection of gene fusions for targeted cancer therapies.
  • This work supports the advancement of molecular diagnostics in oncology.
Keywords:
NTRK gene fusionsmolecular pathologynext generation RNA sequencingoncology

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