Witjes Vera M, Hoogerbrugge Nicoline
Radboudumc, afd. Genetica, Nijmegen.
Contact: Nicoline Hoogerbrugge (
Ned Tijdschr Geneeskd. 2023 Mar 16;167:D7006.
The new 'Tumor-First' workflow for genetic testing in epithelial ovarian cancer detects women with a genetic predisposition effectively and efficiently. 'Tumor-First' indicates that the tumor DNA of all patients diagnosed with epithelial ovarian cancer is examined for the presence of pathogenic variants in, amongst others, BRCA1 and BRCA2 genes. Women with an aberrant tumor DNA test result are eligible for genetic testing using a sample of blood to detect heredity. Simultaneously, the tumor DNA test provides information on the effectiveness of additional treatment with PARP inhibitors. Thereby, the Tumor-First workflow saves time and healthcare costs. This workflow is currently implemented on a national level. The focus of implementation is transferring knowledge to healthcare professionals on requesting, interpreting and reporting the tumor DNA test and providing adequate support. This nationwide implementation of Tumor-First can improve the recognition of heredity in epithelial ovarian cancer.
上皮性卵巢癌基因检测的新“肿瘤优先”工作流程能够有效且高效地检测出具有遗传易感性的女性。“肿瘤优先”意味着对所有被诊断为上皮性卵巢癌的患者的肿瘤DNA进行检测，以查找包括BRCA1和BRCA2基因在内的致病变异。肿瘤DNA检测结果异常的女性有资格使用血液样本进行基因检测以检测遗传性。同时，肿瘤DNA检测可提供关于PARP抑制剂额外治疗有效性的信息。因此，“肿瘤优先”工作流程节省了时间和医疗成本。此工作流程目前正在全国范围内实施。实施的重点是向医疗保健专业人员传授有关肿瘤DNA检测的请求、解读和报告知识，并提供充分支持。“肿瘤优先”在全国范围内的实施可以提高上皮性卵巢癌遗传性的识别率。
