The vast majority of studies assessing communication of BRCA1/2 results with relatives and family uptake of BRCA1/2 testing have been conducted in Western societies, and a dearth of studies have been conducted in Asia among relatives of diverse carriers of pathogenic BRCA1/2 germline variants. This study aimed to present rates of BRCA1/2 result disclosure by probands and probands’ motivators and barriers of family communication and predictive testing uptake among eligible relatives. It also examined patterns of disclosure and testing uptake among different types of relatives. Eighty-seven carriers with either breast or ovarian cancer, who had previously been found to be carriers of a pathogenic variant in BRCA1/2, were interviewed over the phone using a semi-structured interview guide. Fifty-six percent of patients were Chinese, 21% were Indian, and 23% were Malay. It was found that 62.0% of eligible first- and second-degree relatives were informed by the proband about the testing result and that 11.5% of eligible first- and second-degree relatives had genetic testing. First-degree relatives were more likely to have been informed and tested compared to second-degree relatives, as were sisters compared to brothers. The low rates of family communication and testing uptake documented in this study suggest that interventions should focus on encouraging probands to inform male and second-degree relatives and targeting such relatives to increase informed decisions and accessibility to testing. Promotion strategies should be culturally sensitive to optimize outcomes.

中文翻译：

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关于 BRCA1 和 BRCA2 基因检测阳性结果的交流以及在不同亚洲环境中亲属接受检测的情况

绝大多数评估BRCA1/2结果与亲属的沟通以及家庭对BRCA1/2检测的接受程度的研究都是在西方社会进行的，而在亚洲，对各种致病性BRCA1/2种系携带者的亲属进行的研究很少变体。本研究旨在介绍先证者和先证者动机的BRCA1/2结果披露率，以及符合条件的亲属之间家庭沟通和预测测试接受的障碍。它还检查了不同类型亲属之间的披露模式和测试吸收情况。87 名患有乳腺癌或卵巢癌的携带者，之前被发现是BRCA1/2致病性变异的携带者, 使用半结构化面试指南通过电话进行了面试。56% 的患者是华人，21% 是印度人，23% 是马来人。结果发现，62.0%符合条件的一、二级亲属被先证者告知检测结果，11.5%符合条件的一、二级亲属进行了基因检测。与二级亲属相比，一级亲属更有可能被告知和接受检测，姐妹与兄弟相比也是如此。本研究中记录的家庭沟通和测试接受率低表明干预措施应侧重于鼓励先证者告知男性和二级亲属，并针对这些亲属以增加知情决定和测试的可及性。