Duke Center for Applied Genomics & Precision Medicine, Department of Medicine, Duke University School of Medicine, Durham, NC, USA.
Duke Center for Applied Genomics & Precision Medicine, Department of Medicine, Duke University School of Medicine, Durham, NC, USA; Durham Veteran Affairs Cooperative Studies Program Epidemiology Center, Durham, NC, USA.
Lancet. 2019 Aug 17;394(10198):596-603. doi: 10.1016/S0140-6736(19)31275-9. Epub 2019 Aug 5.
Family health history (FHH) is the most useful means of assessing risk for common chronic diseases. The odds ratio for risk of developing disease with a positive FHH is frequently greater than 2, and actions can be taken to mitigate risk by adhering to screening guidelines, genetic counselling, genetic risk testing, and other screening methods. Challenges to the routine acquisition of FHH include constraints on provider time to collect data and the difficulty in accessing risk calculators. Disease-specific and broader risk assessment software platforms have been developed, many with clinical decision support and informatics interoperability, but few access patient information directly. Software that allows integration of FHH with the electronic medical record and clinical decision support capabilities has provided solutions to many of these challenges. Patient facing, electronic medical record, and web-enabled FHH platforms have been developed, and can provide greater identification of risk compared with conventional FHH ascertainment in primary care. FHH, along with cascade screening, can be an important component of population health management approaches to overall reduction of risk.
家族健康史(FHH)是评估常见慢性疾病风险的最有用手段。阳性家族健康史患者的疾病发病风险比值比通常大于 2,并且可以通过遵循筛查指南、遗传咨询、遗传风险测试和其他筛查方法来降低风险。常规获取家族健康史面临的挑战包括限制了提供者收集数据的时间,以及难以获取风险计算器。已经开发出了针对特定疾病和更广泛的风险评估软件平台,其中许多具有临床决策支持和信息学互操作性,但很少有平台可以直接访问患者信息。允许将家族健康史与电子病历和临床决策支持功能集成的软件为解决这些挑战提供了方案。已经开发了面向患者的、电子病历和基于网络的家族健康史平台,与初级保健中的传统家族健康史确定方法相比,它们可以更有效地识别风险。家族健康史与级联筛查一起,可以成为整体降低风险的人群健康管理方法的重要组成部分。