Genomic profiling in oncology clinical practice

Clin Transl Oncol. 2020 Sep;22(9):1430-1439. doi: 10.1007/s12094-020-02296-9. Epub 2020 Jan 24.

Abstract

The development of high-throughput technologies such as next-generation sequencing for DNA sequencing together with the decrease in their cost has led to the progressive introduction of genomic profiling in our daily practice in oncology. Nowadays, genomic profiling is part of genetic counseling, cancer diagnosis, molecular characterization, and as a biomarker of prognosis and response to treatment. Furthermore, germline or somatic genomic characterization of the tumor may provide new treatment opportunities for patients with cancer. In this review, we will summarize the clinical applications and limitations of genomic profiling in oncology clinical practice, focusing on next-generation sequencing.

Keywords: Genomic profiling; Hereditary cancer syndromes; Liquid biopsy; Next-generation sequencing; Sanger sequencing.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Genetic Counseling / methods
  • Genomics / methods
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Medical Oncology / methods
  • Mutation*
  • Neoplasms / drug therapy
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Precision Medicine / methods
  • Prognosis

Substances

  • Biomarkers, Tumor