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Abstract
Background: Taking the family history helps the doctor in estimating the probability of disease in individual patients. However, significant barriers to obtaining adequate family history information remain. Tools overcoming these barriers might support family physicians in this task.
Objective: To review systematically the characteristics of existing family history tools and discuss their potential use in primary care.
Methods: Studies were identified through searches of PubMed, Embase and Cinahl from 1 January 2002 until May 2012. All authors independently screened studies and included original research papers on family history tools of which assessment had been performed or was planned. We reviewed diseases for which family history information was collected, study setting, tool design, type of family history collection, presence of risk-assessment and recommendations for management, and assessment (categorized as either validity or benefit).
Results: Eighteen family history tools were identified: six generic, two on cardiovascular disease and ten on cancer. The six generic tools were partly tested in primary care (3x), are mainly computerized (4x), rarely include management recommendations for the physician (1x) and were partly validated against a reference standard (genetic counsellor) (3x, plus one planned). Of the five specific tools studied in primary care, none was validated. No family history tool allows electronic transfer of family history information to electronic medical record systems. Use of a family history tool improved identification of patients at risk for disease.
Conclusion: Several promising family history tools for primary care have been developed but large-scale implementation cannot be advised yet, based on available validation studies.
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Declaration of interest: The corresponding author reports that he also is Editor-in-Chief of this Journal. The other authors report no conflicts of interest.