Division of Clinical Cancer Genomics, City of Hope National Medical Center, Duarte, CA.
Dana-Farber Cancer Institute, Brigham & Women's Hospital, and Harvard Medical School, Boston, MA.
J Clin Oncol. 2022 Aug 20;40(24):2681-2692. doi: 10.1200/JCO.21.02764. Epub 2022 Jun 1.
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 and (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.
由于以下原因，癌症患者中生殖系基因检测的使用正在增加：(1) 多基因panel 检测的可用性，这些检测在单次检测中包含多个癌症易感性基因；(2) 这些检测的成本降低和保险覆盖范围的扩大；(3) 美国食品和药物管理局(FDA)批准了针对特定癌症患者的基因型导向治疗，如聚(ADP-核糖)聚合酶抑制剂和 和 中的致病性种系变异（可能对同源修复缺陷途径中的其他基因有益）。此外，国家综合癌症网络指南已经支持对某些癌症类型（上皮性卵巢癌、外分泌胰腺腺癌和高级/转移性前列腺癌）的所有患者进行生殖系基因检测，无论其年龄或癌症个人/家族史如何。在此，我们就对所有诊断为任何胃肠道癌症的患者提供生殖系多基因panel 检测的利弊进行辩论。作者们一致认为，生殖系多基因panel 检测可能很快就会提供给所有癌症患者；然而，本文将重点介绍这种方法的一些益处、风险和局限性，以便研究能够帮助填补一些空白，确保遗传医学继续以改善现实世界患者护理和结果的方式实施。
