Next-generation sequencing and molecular therapy

Clin Med (Lond). 2023 Jan;23(1):65-69. doi: 10.7861/clinmed.2022-0514.

Abstract

Cancers contain a plethora of mutations, few of which are critical to maintaining a state of malignancy. With our ever-expanding understanding of the genomic complexity of cancer, potentially actionable biomarkers whose inhibition could cripple cancer growth are increasingly being elucidated. Modern cancer drug development has largely switched from cytotoxic agents to targeted therapies and immunotherapy, with noteworthy success in several cancer types including non-small-cell lung cancer (NSCLC), breast cancer and melanoma. Next-generation sequencing offers high-throughput, widescale genomic interrogation in a far more efficient and affordable manner than previous sequencing methods. This facilitates detection of potentially actionable mutations and fusions for individual patients and contributes to the identification of novel predictive and prognostic biomarkers in a population. Challenges in the technical aspects of biopsy and sequencing, interpretation, and development of targeted therapies against common genomic aberrations will need to be addressed for personalised medicine to become a reality for more patients with cancer.

Keywords: cancer genomics; liquid biopsy; nextgeneration sequencing; targeted therapy.

MeSH terms

  • Biomarkers, Tumor / genetics
  • Breast Neoplasms*
  • Carcinoma, Non-Small-Cell Lung* / drug therapy
  • Carcinoma, Non-Small-Cell Lung* / genetics
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Lung Neoplasms* / drug therapy
  • Lung Neoplasms* / genetics
  • Melanoma* / drug therapy
  • Melanoma* / genetics
  • Molecular Targeted Therapy
  • Mutation

Substances

  • Biomarkers, Tumor