Centre for Population Health Sciences, University of Edinburgh, Edinburgh, UK.
Patient Educ Couns. 2013 Mar;90(3):372-7. doi: 10.1016/j.pec.2011.09.002. Epub 2011 Oct 1.
To explore patients' interpretations of their DNA results for familial hypercholesterolemia (FH).
In-depth interviews were conducted with patients from two lipid clinics in Scotland, who were offered genetic testing as part of a nationwide cascade screening service.
Patients were receptive to taking part in genetic screening and most expected a positive result. Receiving a molecular diagnosis of FH could provide reassurance to patients that diet and lifestyle factors were not the primary causes of their condition. Patients who received inconclusive results tended to interpret this as meaning that their high cholesterol was not genetic, which could induce feelings of uncertainty and self-blame. With the exception of newly diagnosed patients, for whom a positive result could provide a useful rationale for initiating statins, most perceived DNA screening to be of little relevance to their own medication use or their own approaches to lifestyle management.
Index patients are likely to view DNA screening for FH as non-threatening. Receiving a positive DNA result can be reassuring for patients. Patients may not, however, interpret inconclusive DNA results correctly.
Health professionals need to ensure FH index patients are prepared to receive, and fully understand, inconclusive DNA results.
探讨家族性高胆固醇血症（FH）患者对其 DNA 检测结果的解读。
对苏格兰两家血脂诊所的患者进行了深入访谈，这些患者是作为全国性级联筛查服务的一部分接受基因检测的。
患者愿意参与基因筛查，大多数人期望检测结果呈阳性。获得 FH 的分子诊断可以使患者放心，饮食和生活方式因素不是其病情的主要原因。那些检测结果不确定的患者倾向于将其解释为胆固醇高不是遗传因素所致，这可能会引起他们的不确定感和自责感。除了新诊断的患者，他们可能会将阳性结果作为开始使用他汀类药物的有用依据，大多数患者认为 DNA 筛查与他们自己的药物使用或自己的生活方式管理方法关系不大。
FH 患者可能认为 FH 的 DNA 筛查没有威胁性。阳性的 DNA 检测结果可能会使患者感到安心。然而，患者可能无法正确解读不确定的 DNA 检测结果。
卫生保健专业人员需要确保 FH 患者能够接受并充分理解不确定的 DNA 检测结果。
