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

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.