Gaff Clara L, Collins Veronica, Symes Tiffany, Halliday Jane
Genetic Health Services Victoria, Melbourne, Australia.
J Genet Couns. 2005 Apr;14(2):133-40. doi: 10.1007/s10897-005-0412-3.
The responsibility of informing relatives that predictive genetic testing is available often falls to the proband. Support is required during this process, however the perceived utility of genetic counseling and other strategies to facilitate communication have not been explored. We investigated the experiences of 12 individuals with hereditary nonpolyposis colorectal cancer (HNPCC) in a semistructured telephone interview. Respondents informed their immediate family about the availability of genetic testing, however many more-distant relatives were not directly informed. Respondents were mostly satisfied with the way they told family members about testing and had mixed views about the usefulness of genetic counseling. Gender differences were observed, with most men expressing a need for guidance or support in communicating to relatives. Letters and booklets were thought to enhance the quality of information but the provision of further aids is unlikely to increase the number of relatives made aware of predictive testing by the proband.
告知亲属可进行预测性基因检测的责任通常落在先证者身上。然而，在此过程中需要支持，不过基因咨询和其他促进沟通策略的实际效用尚未得到探讨。我们通过半结构化电话访谈调查了12名遗传性非息肉病性结直肠癌（HNPCC）患者的经历。受访者告知了他们的直系亲属基因检测的情况，但更多的远亲并未得到直接告知。受访者大多对他们向家庭成员告知检测情况的方式感到满意，对基因咨询的有用性看法不一。观察到了性别差异，大多数男性表示在与亲属沟通时需要指导或支持。信件和小册子被认为能提高信息质量，但提供更多辅助手段不太可能增加先证者告知的亲属知晓预测性检测的人数。
