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How to read a next-generation sequencing report-what oncologists need to know
S Schmid1, W Jochum2, B Padberg2
1Division of Medical Oncology and Hematology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland; Inselspital Berne, University of Berne, Bern, Switzerland.
Abstract:
Next-generation sequencing (NGS) of tumor cell-derived DNA/RNA to screen for targetable genomic alterations is now widely available and has become part of routine practice in oncology. NGS testing strategies depend on cancer type, disease stage and the impact of results on treatment selection. The European Society for Medical Oncology (ESMO) has recently published recommendations for the use of NGS in patients with advanced cancer. We complement the ESMO recommendations with a practical review of how oncologists should read and interpret NGS reports. A concise and straightforward NGS report contains details of the tumor sample, the technology used and highlights not only the most important and potentially actionable results, but also other pathogenic alterations detected. Variants of unknown significance should also be listed. Interpretation of NGS reports should be a joint effort between molecular pathologists, tumor biologists and clinicians. Rather than relying and acting on the information provided by the NGS report, oncologists need to obtain a basic level of understanding to read and interpret NGS results. Comprehensive annotated databases are available for clinicians to review the information detailed in the NGS report. Molecular tumor boards do not only stimulate debate and exchange, but may also help to interpret challenging reports and to ensure continuing medical education.
Insights
Next-generation sequencing (NGS) is vital for identifying cancer-driving genomic alterations. This review guides oncologists in interpreting NGS reports to personalize cancer treatment effectively.
Area of Science:
- Oncology
- Genomics
- Molecular Pathology
Background:
- Next-generation sequencing (NGS) is integral to modern oncology for detecting targetable genomic alterations in tumors.
- NGS testing strategies are tailored to cancer type, stage, and treatment implications.
- The European Society for Medical Oncology (ESMO) has released guidelines for NGS use in advanced cancer.
Purpose of the Study:
- To provide a practical guide for oncologists on reading and interpreting NGS reports.
- To complement existing ESMO recommendations with actionable insights for clinical practice.
- To emphasize the importance of understanding NGS results for informed treatment decisions.
Main Methods:
- Review of current practices and literature on NGS report interpretation.
- Analysis of key components of a comprehensive NGS report.
- Discussion of collaborative interpretation involving molecular pathologists, tumor biologists, and clinicians.
Main Results:
- Effective NGS reports detail tumor sample information, technology, actionable results, and variants of unknown significance.
- Oncologists require foundational knowledge to interpret NGS reports beyond simply relying on provided information.
- Annotated databases and molecular tumor boards facilitate accurate interpretation and continuing medical education.
Conclusions:
- Interpreting NGS reports is a collaborative process essential for precision oncology.
- Empowering oncologists with NGS interpretation skills enhances personalized cancer care.
- Leveraging resources like databases and tumor boards optimizes the clinical utility of NGS.
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