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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
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Current and emerging sequencing-based tools for precision cancer medicine
Anders Edsjö1, David Gisselsson2, Johan Staaf3
1Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office for Medical Services, Region Skåne, Lund, Sweden; Division of Pathology, Department of Clinical Sciences, Lund University, Lund, Sweden.
Molecular Aspects of Medicine
|February 8, 2024
Summary
Next-generation sequencing (NGS) is revolutionizing cancer diagnostics by analyzing genomic aberrations for targeted therapies. This review explores NGS
Area of Science:
- Genomics
- Oncology
- Molecular Diagnostics
Background:
- Precision cancer medicine relies on analyzing numerous genomic aberrations.
- Next-generation sequencing (NGS) has become the primary method for cancer diagnostics, replacing older techniques.
- The demand for analyzing complex biomarkers like microsatellite instability (MSI) and homologous recombination deficiency (HRD) is increasing.
Purpose of the Study:
- To review the emergence and clinical utility of sequencing-based methods in cancer diagnostics.
- To highlight the role of NGS in decision-making for pediatric and adult cancer patients.
- To discuss challenges in clinical implementation and future directions for sequencing technologies.
Main Methods:
- Review of current literature on sequencing-based methods in cancer diagnostics.
- Historical perspective on the adoption of NGS in clinical settings.
- Analysis of the impact of decreasing sequencing costs on diagnostic capabilities.
Main Results:
- NGS enables comprehensive analysis of genomic alterations, including complex biomarkers.
- Sequencing-based diagnostics are crucial for guiding targeted therapies and improving patient outcomes.
- NGS facilitates longitudinal monitoring of treatment response and detection of minimal residual disease.
Conclusions:
- NGS has transformed cancer diagnostics, offering unprecedented insights into tumor genomics.
- Clinical implementation of NGS requires addressing challenges related to standardization and interpretation.
- Future advancements in sequencing technologies promise further improvements in cancer care and monitoring.

