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. 2022 Dec;28(1):75-86.
doi: 10.1080/13814788.2022.2061457.

Family history tools for primary care: A systematic review

Špela Miroševič  1 , Zalika Klemenc-Ketiš  1   2   3 , Borut Peterlin  4
Affiliations

Family history tools for primary care: A systematic review

Špela Miroševič et al. Eur J Gen Pract. 2022 Dec.

Abstract

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.

Keywords: Genetics; general; general practice/family medicine; incl. family history; meta-analyses; systematic reviews.

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Conflict of interest statement

The authors alone are responsible for the content and writing of the article.

Figures

Figure 1.
Figure 1.
The selection process of included studies.
See this image and copyright information in PMC

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References

    1. Ginsburg GS, Wu RR, Orlando LA.. Family health history: underused for actionable risk assessment. Lancet. 2019;394(10198):596–603. - PMC - PubMed
    1. Rich EC, Burke W, Heaton CJ, et al. . Reconsidering the family history in primary care. J Gen Intern Med. 2004;19(3):273–280. - PMC - PubMed
    1. Acheson LS, Wiesner GL, Zyzanski SJ, et al. . Family history-taking in community family practice: implications for genetic screening. Genet Med. 2000;2(3):180–185. - PubMed
    1. Welch BM, Wiley K, Pflieger L, et al. . Review and comparison of electronic Patient-Facing family health history tools. J Genet Couns. 2018;27(2):381–391. - PMC - PubMed
    1. Lu KH, Wood ME, Daniels M, et al. . American society of clinical oncology expert statement: collection and use of a cancer family history for oncology providers. J Clin Oncol. 2014;32(8):833–840. - PMC - PubMed

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