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Next-generation diagnostics for precision oncology: Preanalytical considerations, technical challenges, and available
Wencke Walter1, Nicole Pfarr2, Manja Meggendorfer1
1MLL Munich Leukemia Laboratory, Munich, Germany.
Seminars in Cancer Biology
|November 10, 2020
Summary
Molecular diagnostics are crucial for precision oncology, but sample quality and standardization need more scientific attention. This review addresses key factors influencing molecular test reliability for better cancer patient care.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Precision oncology relies heavily on molecular diagnostics for cancer treatment selection.
- Despite advancements, the impact of preanalytical and analytical factors on molecular test reliability is under-researched.
- Standardization and quality assessment in molecular diagnostics remain underdeveloped.
Purpose of the Study:
- To systematically review preanalytical and analytical parameters affecting molecular diagnostic test results.
- To highlight the importance of sample quality for reliable molecular characterization in oncology.
- To discuss various analytes, technologies, and analysis pipelines in molecular testing.
Main Methods:
- Systematic review of scientific literature on preanalytical and analytical factors in molecular diagnostics.
- Focus on broad molecular genetic tumor testing using next-generation sequencing (NGS).
- Inclusion of other molecular diagnostic modalities and future trends.
Main Results:
- Preanalytical variables significantly impact the accuracy and reliability of molecular test outcomes.
- Analytical setups and data processing pipelines are critical for precise molecular profiling.
- Next-generation sequencing (NGS) is a key technology, but its application requires careful consideration of influencing factors.
Conclusions:
- Rigorous standardization and quality control are essential for dependable molecular diagnostics in oncology.
- Addressing preanalytical and analytical challenges is crucial for optimizing cancer patient treatment selection.
- Future molecular testing will likely involve broader genomic analyses and integrated diagnostic approaches.
