Background & Methodology

Chronic disease places a huge burden on NHS resources, individuals and their families. The risk of many chronic diseases is increased in the presence of a family history of the disorder, representing not only shared genetic factors but also environmental and behavioural exposures.

Approximately 40% of the adult primary care population will have a family history of cancer, diabetes or ischaemic heart disease. If family history screening for common chronic disease is to be feasible in UK primary care, we require a simple, brief screening tool to identify those groups who are most likely to benefit from a more detailed pedigree, risk assessment and general risk-reduction advice.

Phase 1

During Phase 1 of the study we recruited a sample of 618 patients from up to 10 general practices in Cambridgeshire, Essex or Hertfordshire. The participants completed a family history questionnaire (FHQ-12) before a nurse researcher took a family history pedigree. This acted as a ‘gold standard’ against the questionnaire so that the questions that best predict family history risk could be identified from the FHQ-12 and used in the shorter FHQ-n.

Phase 2

During Phase 2 of the study we l recruited a further sample of 529 patients from the same general practices. The participants were again asked to complete the revised family history questionnaire (FHQ-6) before having their family history pedigree taken by the nurse researcher. They also completed psychological impact questionnaire before the consultation and one month later. Thirty participants took part in an interview to explore the impact and acceptability of having their family history information taken in the primary care setting, and the use of the FHQ-6.