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Communicating Familial Hypercholesterolemia Genetic Information Within Families

机译:家族性高胆固醇血症沟通家庭中的遗传信息

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摘要

To explore the views of the Western Australian community on cascade screening for familial hypercholesterolemia (FH), focusing on the desire of relatives to be informed about a familial risk, the acceptability of being informed by family or by health professionals, and preferences around how this information is shared. Methods: A cross-sectional computer assisted telephone interviewing (CATI) survey was employed, and 430 respondents were recruited randomly from the electronic version of the Western Australian telephone directory. Results: Interviews were conducted in June 2008 and had a response rate of 75%. Most respondents (93%) indicated a desire to be informed about their familial risk of FH. Of these, 91% desired to be informed by their relative, 77% by the health clinic involved in the FH screening program, and 95% indicated a desire to be offered screening for the condition. Women aged 18-54 years were more likely to report a preference for being informed by their relative. The odds of reporting a high likelihood of attending the program health clinic for testing were significantly lower among men aged 18-54 years. If contacted by the program health clinic, 1 in 3 respondents found it unacceptable to not be told their relative's name. Conclusions: This study provides evidence of community support for FH cascade screening programs that adopt a policy of "direct contact," where program staff contact the relatives of the index cases and inform them of their familial risk. Maximizing community support for the screening program may require that index cases give consent to include their personal details when the initial contact is made with their relatives. It may also require special consideration of how younger members of the community are contacted and encouraged to participate in the screening programs.
机译:探索西澳大利亚的观点社区级联筛查家族高胆固醇血症(FH),专注于欲望了解一个家族的亲戚风险,被通知的可接受性家庭或卫生专业人员,喜好在这个信息共享。协助电话面试(软件)的调查使用,430受访者招募随机的电子版本西澳大利亚的电话目录。采访是在2008年6月完成的反应率为75%。表示想要了解他们家族性跳频的风险。根据它们的相对,77%健康诊所参与FH筛查项目,95%表示希望提供筛选的条件。更有可能报告偏爱根据它们的相对。参加这个项目的可能性高的健康临床测试中明显降低男人18-54岁。健康诊所,1 3受访者发现它不可接受的不告诉他们的相对的名字社区支持跳频级联筛查项目采用“直接接触”的政策项目人员联系的亲戚在哪里指数情况下并告知他们的家族风险。筛查程序可能需要索引病例同意包括他们的个人信息当初始接触与他们不相关的亲戚(联系)。考虑如何年轻的成员社区是联系和鼓励参与筛查项目。

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