Family history tools for primary care: A systematic review

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. This review explores the FH tools currently available for PC and evaluates their clinical performance. 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. 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). 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.目前已有多款医学家族史（Family History, FH）工具可适配各类应用场景。尽管家族史工具可作为基层医疗（Primary Care, PC）场景下强有力的健康筛查工具，但目前其临床应用仍未得到充分普及。本综述梳理了当前适用于基层医疗的家族史工具，并对其临床性能进行了评估。本综述于2021年5月前对5个数据库开展了系统性检索，所纳入的工具将从以下维度进行评估：完成所需时长、与电子健康记录（Electronic Health Record, EMR）系统的集成度、患者管理适配性、风险评估能力、基于证据的诊疗建议、分析与临床效度，以及临床实用性。本综述共纳入26款基层医疗家族史工具。分析与临床效度的报告质量普遍欠佳，家族史工具与金标准之间的一致性评估及报告也大多存在不足。灵敏度表现尚可，但在半数纳入综述的工具中，特异度表现不佳。多数纳入综述的工具能够成功识别疾病风险升高的人群，可检出6.2%~84.6%的高、中风险或风险升高人群。尽管家族史工具具备改善基层医疗患者风险分层的潜力，但当前工具的临床性能仍存在局限，且与电子健康记录系统的集成度亦有待提升。另有21款家族史工具设计为供患者自行完成使用。