Department of Public and Occupational Health , EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
Genet Med. 2011 May;13(5):443-6. doi: 10.1097/GIM.0b013e3182081fce.
To examine whether a simple enquiry can provide similar family history information compared with a detailed questionnaire for coronary heart disease or diabetes.
Data from two randomized controlled trials were extracted that assess the clinical value of using family history information for either coronary heart disease (ISRCTNI17943542) or diabetes risk assessment (NTR1938) in a community-based population. Outcome measures were percentage agreement, sensitivity, and specificity of self-reported family history for coronary heart disease and diabetes by means of a simple enquiry, when compared with a detailed questionnaire.
Agreement between both family history tools was 76.8% for first-degree relatives with coronary heart disease, and 89.2% and 87.6% for first- and second-degree relatives with diabetes, respectively. The sensitivity was 44.2% for first-degree relatives with coronary heart disease, 81.9% for first-degree relatives with diabetes, and 35.4% for second-degree relatives with diabetes. Specificity was 89.3%, 97.0%, and 94.5%, respectively.
Compared with a detailed questionnaire, the simple enquiry correctly identified the majority of individuals classified as having no significant family history but missed a significant proportion of individuals with positive family history. Incorrect classification of family history, in particular the high false-negative rate, has implications on the utility of a simple enquiry in identifying familial risk in clinical practice.
探究简单询问能否提供与冠心病或糖尿病详细问卷类似的家族史信息。
从两项评估基于社区人群使用家族史信息进行冠心病（ISRCTN17943542）或糖尿病风险评估（NTR1938）的临床价值的随机对照试验中提取数据。通过简单询问与详细问卷相比，评估冠心病和糖尿病的自我报告家族史的百分比一致性、敏感性和特异性。
两种家族史工具在一级亲属冠心病方面的一致性为 76.8%，在一级和二级亲属糖尿病方面的一致性分别为 89.2%和 87.6%。冠心病一级亲属的敏感性为 44.2%，糖尿病一级亲属为 81.9%，糖尿病二级亲属为 35.4%。特异性分别为 89.3%、97.0%和 94.5%。
与详细问卷相比，简单询问正确识别了大多数被归类为无显著家族史的个体，但遗漏了相当一部分具有阳性家族史的个体。家族史的错误分类，特别是高假阴性率，对简单询问在临床实践中识别家族风险的实用性有影响。
