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目的验证澳大利亚初级医疗人群家族病史筛查问卷,以确定乳腺癌、卵巢癌、结直肠癌、前列腺癌、黑色素瘤、局部缺血性心脏病和糖尿病高风险人群。方法选择西澳大利亚洲珀斯市的6家诊所,在全科医疗过程中,邀请患者参与问卷验证,共纳入526例20~50岁的患者。要求患者填写包含15个项目的问卷。遗传咨询师获取患者的3代家谱作为参考标准,计算问卷诊断表现数据。结果问卷包括9个问题,表现出7种疾病的风险筛查价值,受试者工作特征曲线下面积为84.6%(81.2%~88.1%),灵敏度为95%(92%~98%),特异度为54%(48%~60%)。7种疾病中,男性可患疾病为5种,女性可患疾病为6种,问卷筛查风险的灵敏度分别为92%(84%~99%)和96%(93%~99%),特异度分别为63%(28%~52%)和49%(42%~56%),阳性预测值分别为67%(56%~78%)和68%(63%~73%),假阳性率分别为9%(0.5%~17%)和9%(3%~15%)。结论这一简易家族病史筛查问卷具有良好性能,能够有效筛查因家族病史而存在较高患病风险,可用于初级医疗,通过系统方法为患者量身制定疾病预防计划。
Objective To validate the family history screening of primary care populations in Australia to identify breast, ovarian, colorectal, prostate, melanoma, ischemic heart disease and people at high risk for diabetes. Methods Six clinics in Perth, Western Australia were selected. During the general practice, 526 patients aged 20 to 50 years were enrolled in the questionnaire. Patients are asked to fill in a questionnaire containing 15 items. Genetic counselors access to the patient’s third generation genealogy as a reference standard to calculate the questionnaire diagnostic performance data. Results The questionnaire included 9 questions and showed the risk screening value of 7 diseases. The area under the receiver operating characteristic curve was 84.6% (81.2% ~ 88.1%), the sensitivity was 95% (92% ~ 98%), and the specificity The degree is 54% (48% ~ 60%). Of the seven diseases, five are available to men and six are to women, and the sensitivity of questionnaire screening is 92% (84% -99%) and 96% (93% -99%), respectively The positive predictive value was 67% (56% -78%) and 68% (63% -73%) respectively, with a false positive rate of 63% (28% -52%) and 49% (42% -56% Rates were 9% (0.5% to 17%) and 9% (3% to 15%), respectively. Conclusion This simple family medical history screening questionnaire has good performance, which can effectively screen patients with higher risk of illness due to family history, can be used in primary care, and systematically prepare disease prevention programs for patients.