Point/Counterpoint: Is It Time for Universal Germline Genetic Testing for All GI Cancers?

J Clin Oncol. 2022 Aug 20;40(24):2681-2692. doi: 10.1200/JCO.21.02764. Epub 2022 Jun 1.

Abstract

Use of germline genetic testing among patients with cancer is increasing because of (1) the availability of multigene panel tests that include multiple cancer susceptibility genes in a single test, (2) decreased costs of these tests and improvements in insurance coverage, and (3) US Food and Drug Administration-approval of genotype-directed therapies such as poly(ADP-ribose) polymerase inhibitors for individuals with certain cancers and pathogenic germline variants in BRCA1 and BRCA2 (with possible benefits with other genes in the homologous repair deficiency pathway). In addition, National Comprehensive Cancer Network guidelines have already endorsed germline genetic testing for all patients with certain cancer types (epithelial ovarian cancer, exocrine pancreatic cancer, and high-grade/metastatic prostate cancer), regardless of age or personal/family history of cancer. Herein, we debate the pros and cons of offering germline multigene panel testing to all patients diagnosed with any GI cancer. The authors agree that it may just be a matter of time before germline multigene panel testing is offered to all patients with cancer; however, this article will highlight some of the benefits, risks, and limitations of this approach so that research can help fill some of the gaps to ensure that genetic medicine continues to be implemented in ways that improve real-world patient care and outcomes.

MeSH terms

  • Carcinoma, Ovarian Epithelial / drug therapy
  • Female
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Germ Cells
  • Germ-Line Mutation*
  • Humans
  • Male
  • Ovarian Neoplasms* / drug therapy
  • Poly(ADP-ribose) Polymerase Inhibitors / therapeutic use

Substances

  • Poly(ADP-ribose) Polymerase Inhibitors