Abstract Purpose We aimed to validate a family history screening questionnaire in an Australian primary care population designed to identify people at increased risk for breast, ovarian, colorectal, ...and prostate cancer; melanoma; ischemic heart disease; and type 2 diabetes. Methods We prospectively validated the questionnaire in 6 general practices in Perth, Western Australia among 526 patients aged 20 to 50 years who responded to a single invitation from their general practice. They completed the 15-item questionnaire before a reference standard 3-generation pedigree was obtained by a genetic counselor blinded to the questionnaire responses. We calculated diagnostic performance statistics for the questionnaire using the pedigree as the reference standard. Results A combination of 9 questions had the following diagnostic performance, expressed as value (95% CI), to identify increased risk of any of the 7 conditions: area under the receiver operating characteristic curve 84.6% (81.2%-88.1%), 95% sensitivity (92%-98%), and 54% specificity (48%-60%). The combination of questions to detect increased risk had sensitivity of 92% (84%-99%) and 96% (93%-99%) for the 5 and 6 conditions applicable only to men and women, respectively. The specificity was 63% (28%-52%) for men and 49% (42%-56%) for women. The positive predictive values were 67% (56%-78%) and 68% (63%-73%), and the false-positive rates were 9% (0.5%-17%) and 9% (3%-15%) for men and women, respectively. Conclusions This simple family history screening questionnaire shows good performance for identifying primary care patients at increased disease risk because of their family history. It could be used in primary care as part of a systematic approach to tailored disease prevention.
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