Objective Pathogenic BRCA variants account for 5.8–24.8% of ovarian cancers. The identification of such a variant can have a significant impact on the affected individual and their relatives, determining eligibility for targeted therapies, predicting treatment response, and granting access to disease prevention strategies. Cancer services are responding to the increased demand for genetic testing with the introduction of mainstreamed genetic testing via oncology clinics. This study aimed to evaluate patient experience of the mainstreamed genetic testing pathway at a tertiary referral center in London, UK.
Methods Study participants were patients diagnosed with high-grade non-mucinous ovarian cancer, tested via a mainstreamed genetic testing pathway at the tertiary referral center between February 2015 and June 2017. Eligible participants were invited to complete the retrospective study questionnaire. Five quantitative measures with additional free-text items were used to evaluate the patient experience of mainstreamed genetic testing.
Results The tertiary referral center tested 170 ovarian cancer patients. Twenty-three pathogenic BRCA mutations were identified (23/170, 13.5%). One-hundred and six patients (106/170, 62.4%) met the study inclusion criteria. Twenty-nine of those invited to participate (29/106, 27.4%) returned the retrospective study questionnaire. Pathogenic BRCA1/2 variants were identified within four respondents (4/29, 13.8%). Motivations for genetic testing related to improved medical management, and the ability to provide relatives with genetic information. Participants did not appear to be adversely affected by result disclosure post-mainstreamed genetic testing. Two individuals with a pathogenic variant reported that the support provided by the tertiary referral center post-result disclosure could have been improved.
Conclusion Results of the current study support further psychosocial research into the expansion of the mainstreamed genetic testing pathway. The results, although promising, have also highlighted the importance of genetic awareness within the multi-disciplinary team and the provision of timely psychological support from genetic specialists.
- ovarian cancer
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Contributors The authors’ contributions were as follows. AL, BR, LS, and LMc conceived the study. BR and LMc initiated the study design and AL, RK, JL, ML, MM, and TM helped with implementation. LMc recruited the study participants, collected the data and conducted the analysis. AL, BR, and LS assisted with the interpretation of results. LMc drafted the manuscript, which was amended following comments from all other authors. All authors read and approved the submitted manuscript. All listed authors meet the criteria for authorship and no individual meeting these criteria has been omitted.
Funding This research received a grant from the UCLH Charity and NIHR University College London Hospitals Biomedical Research Centre, London, UK. The funders had no role in the study design, collection, management, analysis, interpretation of data, writing of the report or the decision to submit the report for publication.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement Data are available upon reasonable request.