title: Development and evaluation of a brief self-completed family history screening tool for common chronic disease prevention in primary care.
abstract: BACKGROUND
  Family history is an important risk factor for many common chronic diseases, but it remains underutilised for diagnostic assessment and disease prevention in routine primary care.
  
  
  OBJECTIVE
  To develop and validate a brief self-completed family history questionnaire (FHQ) for systematic primary care assessment for family history of diabetes, ischaemic heart disease, breast cancer, and colorectal cancer.
  
  
  METHODS
  Two-stage diagnostic validation study in 10 general practices in eastern England. Method Participants aged 18-50 years were identified via random sampling from electronic searches of general practice records. Participants completed a FHQ then had a three-generational 'gold standard' pedigree taken, to determine disease risk category. In stage 1, the FHQ comprised 12 items; in stage 2 the shorter 6-item FHQ was validated against the same 'gold standard'.
  
  
  RESULTS
  There were 1147 participants (stage 1: 618; stage 2: 529). Overall, 32% were at increased risk of one or more marker conditions (diabetes 18.9%, ischaemic heart disease 13.3%, breast cancer 6.2%, colorectal cancer 2.2%). The shorter 6-item FHQ performed very well for all four conditions: pooled data from both stages show diabetes, sensitivity = 98%, specificity = 94%; ischaemic heart disease, sensitivity = 93%, specificity = 81%; breast cancer, sensitivity = 81%, specificity = 83%; colorectal cancer, sensitivity = 96%, specificity = 88%, with an area under the receiver operating characteristic curve of 0.90 for males and 0.89 for females.
  
  
  CONCLUSIONS
  This brief self-completed FHQ shows good diagnostic accuracy for identifying people at higher risk of four common chronic diseases. It could be used in routine primary care to identify patients who would be most likely to benefit from a more detailed pedigree and risk assessment, and consequent management strategies.
authors.affiliation: Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. fmw22@medschl.cam.ac.uk
authors.forename: Fiona M
authors.initials: FM
authors.lastname: Walter
authors.forename: A Toby
authors.initials: AT
authors.lastname: Prevost
authors.forename: Linda
authors.initials: L
authors.lastname: Birt
authors.forename: Nicola
authors.initials: N
authors.lastname: Grehan
authors.forename: Kathy
authors.initials: K
authors.lastname: Restarick
authors.forename: Helen C
authors.initials: HC
authors.lastname: Morris
authors.forename: Stephen
authors.initials: S
authors.lastname: Sutton
authors.forename: Peter
authors.initials: P
authors.lastname: Rose
authors.forename: Sarah
authors.initials: S
authors.lastname: Downing
authors.forename: Jon D
authors.initials: JD
authors.lastname: Emery
mesh_terms: D000293:Adolescent; D000328:Adult; D001943:Breast Neoplasms / Q000453:epidemiology / Q000208:ethnology / Q000517:prevention & control*; D002908:Chronic Disease / Q000517:prevention & control; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000208:ethnology / Q000517:prevention & control*; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000208:ethnology / Q000517:prevention & control*; D004739:England / Q000453:epidemiology; D005260:Female; D058006:General Practice; D006801:Humans; D008297:Male; D008403:Mass Screening; D008499:Medical Records; D008875:Middle Aged; D017202:Myocardial Ischemia / Q000453:epidemiology / Q000208:ethnology / Q000517:prevention & control*; D010375:Pedigree; D011320:Primary Health Care; D011322:Primary Prevention; D016730:Program Development; D015397:Program Evaluation; D018570:Risk Assessment; D012307:Risk Factors; D012494:Sampling Studies; D012737:Sex Factors; D011795:Surveys and Questionnaires / Q000592:standards*