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Updated: Jun 19, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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Published on: September 20, 2016

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Next-generation sequencing impact on cancer care: applications, challenges, and future directions

Mariano Zalis1,2, Gilson Gabriel Viana Veloso1,3, Pedro Nazareth Aguiar1,4

  • 1Oncoclínicas&Co/MedSir, Rio de Janeiro, Brazil.

Frontiers in Genetics
|July 24, 2024
PubMed

Insights

Precision oncology uses molecular profiling, including next-generation sequencing (NGS), to guide cancer treatment. Challenges remain in making NGS accessible and ensuring sample quality for all patients.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Biology

Background:

  • Precision oncology leverages tumor molecular profiling to understand cancer biology and predict outcomes.
  • Next-generation sequencing (NGS) is a crucial diagnostic tool for cancer treatment guidance.
  • Advanced techniques like comprehensive genomic profiling and liquid biopsies enhance tissue analysis.

Purpose of the Study:

  • To outline the primary applications of next-generation sequencing in oncology.
  • To discuss the limitations and challenges associated with NGS implementation.
  • To explore future directions for NGS in cancer care.

Main Methods:

  • Review of current applications of next-generation sequencing in clinical oncology.
  • Analysis of challenges including cost, accessibility, and sample quality.
  • Exploration of emerging NGS technologies and methodologies like Fragmentomics.

Main Results:

  • NGS enables detailed molecular profiling of tumors, identifying key biomarkers for personalized treatment.
  • Significant hurdles exist in equitable access to NGS, particularly in low- and middle-income countries.
  • Ongoing technological advancements are expanding the scope and utility of NGS in cancer diagnostics.

Conclusions:

  • Next-generation sequencing is fundamental to precision oncology, offering insights into tumor behavior and treatment response.
  • Addressing accessibility, cost, and sample quality is critical for widespread NGS adoption in cancer care.
  • Future research should focus on novel NGS applications and integrating new technologies like Fragmentomics for enhanced oncology outcomes.
Keywords:
cancerhealth technology assessment (HTA)medical technologynext-generation sequencingprecision medicine

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