Erfelijkheidsonderzoek bij ovariumcarcinoom

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.

Conflict of interest and financial support: ICMJE forms provided by the authors are available online along with the full text of this article.