A comprehensive description of the impact that Next-Generation Sequencing is having on cancer diagnosis and treatment has been published recently on the MDPI open access journal Diagnostics.
This interesting review paper illustrates how Next-Generation Sequencing (NGS) has become a cornerstone of modern oncology, enabling high-resolution characterization of tumor genomes and supporting the transition toward molecularly driven clinical decision-making, by providing a comprehensive view of tumor biology that is not achievable with traditional single-gene or PCR-based approaches.
The article discusses the value of NGS in comprehensive genomic profiling, integrating the detection of single-nucleotide variants, insertions/deletions, copy number variations, gene fusions, and complex structural alterations within a single assay, which is critical in oncology. Additionally, it explores how NGS is reshaping the monitoring of disease over time, thanks to the integration of liquid biopsy approaches that allow non-invasive, longitudinal assessment of tumor evolution and enable the earlier detection of minimal residual disease (MRD), the identification of emerging resistance mutations, and the dynamic adaptation of treatment strategies.
The evolution of the technological landscape of NGS is also analyzed, showing that short-read platforms are increasingly complemented by long-read technologies, which are more relevant for resolving structural variants and complex genomic regions. The paper also discusses economic factors that limit a broader adoption in clinical practice and the need for standardized workflows and robust bioinformatics, which are outlined as key factors for unlocking the full potential of precision oncology.
Eager to learn more? Read the full study!
Isaic et al, Diagnostics 2025, 15, 2425; doi.org/10.3390/diagnostics15192425
