Genetics in primary care: validating a tool to pre-symptomatically assess common disease risk using an Australian questionnaire on family history

摘要

BackgroundA positive family history for diabetes, cardiovascular diseases or various types of cancer increases the relative risk for these diseases by 2 to 5 times compared to people without a positive family history. Taking a family history in daily general practice is useful for early, pre-symptomatic risk assessment, but at the moment no standardized family history questionnaire is available in the Dutch language. In this study we used a 9-item questionnaire, previously developed and applied in an Australian study, to probe family history for 7 specific conditions. The aim of the present qualitative study was to test face and content validity of the Australian family history questionnaire in Dutch general practice and to advance the standardization of intake information at an international level. We conducted 10 cognitive interviews with patients over 4 rounds, using the verbal probing technique. This approach allows the collection of data through a series of probe questions, with the aim of obtaining detailed information. After each interview round we modified the questionnaire based on the answers of the interviewees. We also performed 10 semi-structured interviews with general practitioners (GPs) to get their opinion on the content and usability of the questionnaire in practice.