Validation and psychosocial impact of a family screening instrument to support chronic disease prevention in Australian primary care

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[Truncated abstract] Background: The family medical history is an important risk factor for several common chronic diseases, yet challenges remain in efficiently identifying individuals at increased familial risk. Whilst the family history is perceived as a routine part of the medical history, methods are required to support a systematic approach to collecting family history. Family history questionnaires (FHQs) may have an important role in primary care as a screening tool to support tailored disease prevention. Aims: 1. Characterise the performance of a FHQ in Australian general practice for the assessment and management of chronic disease risk. 2. Evaluate the psychological impact of undergoing family history screening in general practice. 3. Measure intentions to reduce disease risk as an intermediate outcome measure of behaviour change. Methods: A systematic review was first conducted in the area of family history questionnaires developed and evaluated for use in the clinical setting. A 15-question FHQ was then developed based on Australian evidence-based familial risk assessment guidelines. Patients were recruited through general practices to complete the FHQ and have their three generation pedigree drawn. The three generational pedigree was the reference standard of family history collection, and allowed familial risk assessment to be made around heart disease, diabetes, melanoma and breast, ovarian, colorectal and prostate cancers. Each participant’s FHQ responses were compared to the reference standard, and the diagnostic performance of the FHQ was determined. Psychological impacts questionnaires (PIQs) were distributed at baseline, 1 week follow-up and 3 months follow-up. A sub-set of the larger study group also participated in semi-structured qualitative interviews that aimed to explore the experience and impact of family history collection and subsequent familial risk assessment, and assess the acceptability of the FHQ.
Original languageEnglish
QualificationDoctor of Philosophy
StateUnpublished - 2012


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