Genetics in primary care: validating a tool to pre-symptomatically assess common disease risk using an Australian...

A 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.

Patients varied in age and gender, and 4 patients were known to have a genetic disorder. The GPs varied in age, gender, clinical experience, type of practice and location. In the first round, seven problems were identified in the questionnaire in the categories Comprehension (1), Recall (2), Judgement (0), Response process (2) and Completeness, (2); by the fourth and final round no problems remained. The content and usability of the questionnaire were assessed positively.

When translated for everyday use in Dutch general practice, the Australian family history questionnaire showed a strong face and content validity, and GPs were positive regarding feasibility. Validation of this family history questionnaire could aid in the standardized integration of genetically relevant information in the electronic health record and clinical research. Conspicuous questionnaire information might alert the GP regarding specific conditions and enable detection of disease at an earlier stage. Additional questionnaire requirements needed however are accurate patient information and consistent, accessible locations in the electronic health record with a possibility to be automatically registered. By deriving a Dutch family history questionnaire convenient for GPs, we adapted a template that might also prove useful for other countries and other medical professionals. This development could make the rapid operationalization of readily available genetic knowledge feasible in daily practice and clinical research, leading to improved medical care.