Family history questionnaires designed for clinical use: a systematic review

Public Health Genomics. 2009;12(2):73-83. doi: 10.1159/000160667. Epub 2008 Oct 2.


Background: The family medical history is an important risk factor for several common chronic diseases but challenges remain in efficiently identifying individuals at increased risk. Family history questionnaires (FHQs) may have an important role in primary care as a screening tool to support tailored disease prevention.

Aims: To systematically review studies reporting on the use and outcomes of FHQs in a clinical setting.

Methods: Studies were identified through electronic searches of Medline, EMBASE, CINAHL, PsychInfo, and Google Scholar until December 2007. Due to the heterogeneity of the included papers, formal synthesis was not possible. We therefore developed a taxonomy based on the principal objectives and design of each study.

Results: A plethora of FHQs were identified but few had been formally evaluated. Forty-four publications were reviewed. Sixteen papers met our inclusion criteria reporting 14 different FHQs. The majority of FHQs focused on 1 or more cancers. Twelve papers reported on the evaluation of a FHQ in a non-referred population, predominantly in primary care practice. Four papers reported a formal validation of a FHQ against a reference standard, demonstrating reasonable accuracy. Six further papers showed that a FHQ can be used to identify populations at increased risk of cancer, many of whom had not been previously identified. Two papers found a positive impact of using a FHQ on subsequent cancer screening, and a further 3 found no significant psychological long-term harm associated with their use.

Conclusions: Despite the abundance of available FHQs, few have been formally evaluated. Several short single-cancer specific FHQs exist, but there are no simple, short generic FHQs suitable for use in primary care practice. FHQs can be used to obtain reasonably accurate family history information and to identify populations at increased disease risk. They have been shown to have a positive impact on cancer screening and are not associated with long-term psychological harm.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Family Health
  • Female
  • Humans
  • Male
  • Medical History Taking / methods*
  • Middle Aged
  • Models, Genetic
  • Neoplasms / diagnosis*
  • Neoplasms / etiology
  • Neoplasms / genetics
  • Reproducibility of Results
  • Risk
  • Risk Assessment
  • Surveys and Questionnaires*