体细胞和种系检测越来越多地用于评估癌症患者的风险。尽管种系测试和体细胞测试都可以识别可能改变患者护理和合格治疗的基因变异，但这些测试的目的及其技术有根本不同，不能互换使用。这项研究检查了华盛顿大学健康中心癌症患者的体细胞和种系基因检测的时间和结果。877 名参与者接受了体细胞基因检测，并由精准医学分子肿瘤委员会 (PMMTB) 进行了审查。患者被诊断患有癌症，包括乳腺癌、结直肠癌、子宫内膜癌、胰腺癌或卵巢癌，并符合国家综合癌症网络生殖系基因检测标准。通过病历审查收集生殖系检测详细信息。这项研究的结果发现，只有 310 名患者 (35%) 在 PMMTB 审查之前进行了生殖系评估。在可作用基因中鉴定出的种系致病/可能致病变异的百分比为 28%。大多数种系变异是在 BRCA1 (26%) 和 BRCA2 (28%) 基因中发现的。通过种系测试和体细胞测试，总共检测到 65% (54/83) 的种系变异；然而，35% (29/83) 的种系变异在体细胞结果中未被识别。这些结果证明了结合种系和体细胞检测的重要性。这项研究强调了基因检测类型的差异，并表明在诊断的早期阶段进行种系检测对于识别癌症患者潜在的可操作的和治疗特异性的变异是必要的。

Somatic and germline testing are increasingly used to estimate risks for patients with cancer. Although both germline testing and somatic testing can identify genetic variants that could change a patient's care and eligible treatments, the aims of these tests and their technologies are fundamentally different and cannot be used interchangeably. This study examines the timing and results of somatic and germline genetic testing for patients with cancer at UW Health.Eight hundred and seventy-seven participants underwent somatic genetic testing, which was reviewed by the Precision Medicine Molecular Tumor Board (PMMTB). Patients were diagnosed with cancers, including breast, colorectal, endometrial, pancreatic, or ovarian cancer, and met National Comprehensive Cancer Network criteria for germline genetic testing. Germline testing details were collected by medical record review.The results of this study found that only 310 patients (35%) had germline evaluation before PMMTB review. The percent of germline pathogenic/likely pathogenic variants identified in actionable genes was 28%. Most germline variants were identified in the BRCA1 (26%) and BRCA2 (28%) genes. In total, 65% (54/83) of germline variants were detected with both germline testing and somatic testing; however, 35% (29/83) of germline variants were not identified on somatic results. These results demonstrate the importance of combination germline and somatic testing.This study highlights the differences in genetic testing types and demonstrates that conducting germline testing at earlier stages of diagnoses is necessary to identify potentially actionable and treatment-specific variants in patients with cancer.