Abstract

BackgroundFemale BRCA1 and BRCA2 mutation carriers have an increased lifetime risk of developing breast and/or ovarian cancer. Hence, they face the difficult decision of choosing a preventive strategy such as risk-reducing surgeries or intensified breast screening. To help these women during their decision process, several patient decision aids (DA) were developed and evaluated in the last 15 years. Until now, there is no conclusive evidence on the effectiveness of these DA. This study aims 1) to provide the first systematic literature review about DA addressing preventive strategy decisions for female BRCA1 and BRCA2 mutation carriers, 2) to analyze the quality of the existing evidence, 3) to evaluate the effects of DA on decision and information related outcomes, on the actual choice for preventive measure and on health outcomes.MethodsA systematic literature review was conducted using six electronic databases (inclusion criteria: DA addressing preventive strategies, female BRCA1 and BRCA2 mutation carriers, 18 to 75 years, knowledge of test result). The quality of the included randomized controlled trials (RCT) was evaluated with the Cochrane Collaboration’s risk of bias tool. The quality of included one-group pretest-posttest design studies was evaluated with the ROBINS-I tool. Outcomes of included studies were extracted and qualitatively summarized.ResultsA total of 2093 records were identified. Six studies were included for further evaluation (5 RCT, 1 one-group pretest-posttest design study). One RCT was formally included, but data presentation did not allow for further analyses. The risk of bias was high in three RCT and unclear in one RCT. The risk of bias in the one-group pretest-posttest study was serious. The outcome assessment showed that the main advantages of DA are linked to the actual decision process: Female BRCA1 and BRCA2 mutation carriers using a DA had less decisional conflict, were more likely to reach a decision and were more satisfied with their decision.ConclusionsDecision aids can support female BRCA1 and BRCA2 mutation carriers during their decision process by significantly improving decision related outcomes. More high-quality evidence is needed to evaluate possible effects on information related outcomes, health outcomes and the actual choice for preventive measures.

Highlights

  • Female Breast cancer gene 1 (BRCA1) and Breast cancer gene 2 (BRCA2) mutation carriers have an increased lifetime risk of developing breast and/ or ovarian cancer

  • Genetic testing and counselling for a BRCA1 and BRCA2 mutation is strongly recommended for women with a family history or a personal history of Breast cancer (BC) and/ or ovarian cancer (OC), which is potentially associated with hereditary mutations [7]

  • The aim of this review is to provide the first systematic literature review about the effectiveness of Decision aid(s) (DA) for female BRCA1 and BRCA2 mutation carriers, to analyze the quality of the existing evidence and to evaluate the effects of DA on decision related outcomes, information related outcomes, actual choice for preventive measure and health outcomes

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Summary

Introduction

Female BRCA1 and BRCA2 mutation carriers have an increased lifetime risk of developing breast and/ or ovarian cancer. They face the difficult decision of choosing a preventive strategy such as risk-reducing surgeries or intensified breast screening. To help these women during their decision process, several patient decision aids (DA) were developed and evaluated in the last 15 years. 0.1 to 0.3% of all women carry a mutation in one of the so-called breast cancer genes BRCA1 and BRCA2 [1,2,3,4,5] These women have an increased lifetime risk of developing breast (BC) and ovarian cancer (OC). Mutation carriers with a personal history of BC and/or OC confront an even more complicated decision-making process: A woman with unilateral BC has to consider different competing risks when taking a decision, such as the risk of developing contralateral cancer, the risk of an ipsilateral relapse, the risk of developing OC, and the risks arising from the primary cancer disease

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