Mainstream genetic testing for women with ovarian cancer provides a solid basis for patients to make a well-informed decision about genetic testing

Abstract

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 ≤ 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 ≤ 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 ≥ 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; Genetic counseling; Knowledge; Mainstream genetic testing; Patients’ perspectives; Psychosocial outcomes; Satisfaction; Turnaround times.

Fig. 1

Study design and participation in questionnaire study. ^aTwo questionnaires were returned without being completed and with a comment that the patient had died. ^bPatients in the control group received pre-test genetic counseling both before and during our study period (from January 2017 until April 2020). Patients who received genetic counseling during our study period received the questionnaire approximately four weeks after the test result was made available. Patients who received genetic counseling before our study period received the questionnaire between four weeks and one year after receiving the test result. ^cTwo patients were excluded after receiving the questionnaire, one because of a language barrier and one because the patient received counseling for breast cancer and the EOC was diagnosed after preventive surgery

Fig. 2

Discussed topics during pre-test counseling. The figure shows the percentage of patients who reported whether the following topics were discussed: (1) women with ovarian cancer and a pathogenic variant in an ovarian cancer gene can sometimes receive additional treatment if the ovarian cancer comes back later, (2) for family members it may be important to know if a woman with ovarian cancer has a pathogenic variant in an ovarian cancer gene, and (3) when a woman with ovarian cancer has a pathogenic variant in a BRCA1 or BRCA2 gene, she also has a higher chance of developing breast cancer. *p ≤ 0.05