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Review
. 2024 Jul 9:15:1420190.
doi: 10.3389/fgene.2024.1420190. eCollection 2024.

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

Mariano Zalis #  1   2 , Gilson Gabriel Viana Veloso #  1   3 , Pedro Nazareth Aguiar Jr  1   4 , Nathalia Gimenes  1 , Marina Xavier Reis  1 , Silvio Matsas  5 , Carlos Gil Ferreira  1
Affiliations
Review

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

Mariano Zalis et al. Front Genet. .

Abstract

Fundamentally precision oncology illustrates the path in which molecular profiling of tumors can illuminate their biological behavior, diversity, and likely outcomes by identifying distinct genetic mutations, protein levels, and other biomarkers that underpin cancer progression. Next-generation sequencing became an indispensable diagnostic tool for diagnosis and treatment guidance in current clinical practice. Nowadays, tissue analysis benefits from further support through methods like comprehensive genomic profiling and liquid biopsies. However, precision medicine in the field of oncology presents specific hurdles, such as the cost-benefit balance and widespread accessibility, particularly in countries with low- and middle-income. A key issue is how to effectively extend next-generation sequencing to all cancer patients, thus empowering treatment decision-making. Concerns also extend to the quality and preservation of tissue samples, as well as the evaluation of health technologies. Moreover, as technology advances, novel next-generation sequencing assessments are being developed, including the study of Fragmentomics. Therefore, our objective was to delineate the primary uses of next-generation sequencing, discussing its' applications, limitations, and prospective paths forward in Oncology.

Keywords: cancer; health technology assessment (HTA); medical technology; next-generation sequencing; precision medicine.

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Conflict of interest statement

Authors MZ, GV, PA, NG, MR, and CF were employed by Oncoclínicas&Co/MedSir. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. GV and CF declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

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