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Background There is a growing need for genetic testing of women with epithelial ovarian cancer. Mainstream genetic testing provides an alternative care pathway in which non-genetic healthcare professionals offer pre-test counseling themselves. We aimed to explore the impact of mainstream genetic testing on patients' experiences, turnaround times and adherence of non-genetic healthcare professionals to the mainstream genetic testing protocol. Methods Patients receiving pre-test counseling at the gynecology departments between April 2018 and April 2020 were eligible to participate in our intervention group. Patients receiving pre-test counseling at the genetics department between January 2017 and April 2020 were eligible to participate in our control group. We evaluated patients' experiences with questionnaires, consisting of questions regarding knowledge, satisfaction and psychosocial outcomes. Patients in the intervention group were sent two questionnaires: one after pre-test counseling and one after receiving their DNA test result. Patients in our control group were sent one questionnaire after receiving their test result. In addition, we collected data regarding turnaround times and adherence of non-genetic healthcare professionals to the mainstream genetic testing protocol. Results Participation was 79% in our intervention group (105 out of 133 patients) and 60% in our control group (91 out of 152 patients). Knowledge regarding genetics, decisional conflict, depression, anxiety, and distress were comparable in the two groups. In the intervention group, the risk of breast cancer in patients carrying a pathogenic germline variant was discussed less often (49% versus 74% in control group, p [less than or equai to] 0.05), and the mean score of regret about the decision to have genetic testing was higher than in the control group (mean 12.9 in the intervention group versus 9.7 in the control group, p [less than or equai to] 0.05), although below the clinically relevant threshold of 25. A consent form for the DNA test and a checklist to assess family history were present for [greater than or equal to] 95% of patients in the intervention group. Conclusion Mainstream genetic testing is an acceptable approach to meet the increase in genetic testing among women with epithelial ovarian cancer. Keywords: Epithelial ovarian cancer, Mainstream genetic testing, Patients' perspectives, Genetic counseling, Turnaround times, Psychosocial outcomes, Knowledge, Satisfaction, Author(s): Kyra Bokkers[sup.1], Eveline M. A. Bleiker[sup.2,3,4], Jacob P. Hoogendam[sup.5], Mary E. Velthuizen[sup.1], Henk W. R. Schreuder[sup.5], Cornelis G. Gerestein[sup.5,6], Joost G. Lange[sup.7], Jacqueline A. Louwers[sup.8], Marco J. Koudijs[sup.1], Margreet [...]

Background CHEK2 has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a BRCA1/2 gene germline pathogenic variant may benefit from additional genetic testing for the CHEK2 c.1100del pathogenic variant. The aims of this study were: 1) to assess the uptake of an active approach by recontacting BRCA1/2-negative women for additional CHEK2 c.1100del testing on stored DNA-samples and 2) to explore patients' experiences with this approach. Methods Between 2015 and 2017, women who had been tested earlier negative for BRCA1/2 germline pathogenic variants, were recontacted for additional CHEK2 c.1100del testing on stored DNA-samples, free-of-charge. They received an information letter about the CHEK2 pathogenic variant and could return an informed consent form when they opted for additional genetic testing. Those in whom the CHEK2 pathogenic variant was absent, received a letter describing this result. Those who tested positive, were invited for a personal counseling at the department of genetics. On average 21 months (range 4-27) after the genetic test result, a questionnaire was sent to all identified carriers and a control group of women who tested negative for the pathogenic variant to explore patients' experiences with our approach. Results In total, 70% (N = 1666) of the N = 2377 women contacted opted for additional testing, and 66 (4%) of them proved to be carriers of the CHEK2 c.1100del pathogenic variant. Regardless of the outcome of the genetic test, women were generally satisfied with our approach and reported that the written information was sufficient to make an informed decision about the additional CHEK2 testing. Conclusions The uptake (70%) of our approach was considered satisfactory. Patients considered the benefits more important than the psychosocial burden. Given the rapid developments in DNA-diagnostics, our findings may support future initiatives to recontact patients about additional genetic testing when they previously tested negative for a pathogenic variant in a breast cancer gene. Keywords: Uptake testing, CHEK2 c.1100del pathogenic variant, Breast cancer risk, Recontacting, Author(s): Mary E. Velthuizen[sup.1], Rob B. van der Luijt[sup.1,2], Beja J. de Vries[sup.1], Marco J. Koudijs[sup.1], Eveline M. A. Bleiker[sup.2,3,4] and Margreet G. E. M. Ausems[sup.1] Background Approximately 5-10% of [...]