Family history tools for primary care: A systematic review

Background Many medical family history (FH) tools are available for various settings. Although FH tools can be a powerful health screening tool in primary care (PC), they are currently underused. Objectives This review explores the FH tools currently available for PC and evaluates their clinical performance. Methods Five databases were systematically searched until May 2021. Identified tools were evaluated on the following criteria: time-to-complete, integration with electronic health record (EMR) systems, patient administration, risk-assessment ability, evidence-based management recommendations, analytical and clinical validity and clinical utility. Results We identified 26 PC FH tools. Analytical and clinical validity was poorly reported and agreement between FH and gold standard was commonly inadequately reported and assessed. Sensitivity was acceptable; specificity was found in half of the reviewed tools to be poor. Most reviewed tools showed a capacity to successfully identify individuals with increased risk of disease (6.2-84.6% of high and/or moderate or increased risk individuals). Conclusion Despite the potential of FH tools to improve risk stratification of patients in PC, clinical performance of current tools remains limited as well as their integration in EMR systems. Twenty-one FH tools are designed to be self-administered by patients.

Automated summary

This review examines the current medical family history (FH) tools available for primary care and evaluates their clinical performance. Limited reporting and assessment of analytical and clinical validity were found, with half of the tools showing poor specificity. Most tools demonstrated the ability to successfully identify individuals at increased risk of disease.