Chen Elizabeth S, Carter Elizabeth W, Winden Tamara J, Sarkar Indra Neil, Wang Yan, Melton Genevieve B
Center for Clinical and Translational Science-Biomedical Informatics Unit, University of Vermont, Burlington, Vermont, USA Department of Medicine-Division of General Internal Medicine, University of Vermont, Burlington, Vermont, USA Department of Computer Science, University of Vermont, Burlington, Vermont, USA.
Center for Clinical and Translational Science-Biomedical Informatics Unit, University of Vermont, Burlington, Vermont, USA.
J Am Med Inform Assoc. 2015 Apr;22(e1):e67-80. doi: 10.1136/amiajnl-2014-003092. Epub 2014 Oct 21.
To integrate data elements from multiple sources for informing comprehensive and standardized collection of family health history (FHH).
Three types of sources were analyzed to identify data elements associated with the collection of FHH. First, clinical notes from multiple resources were annotated for FHH information. Second, questions and responses for family members in patient-facing FHH tools were examined. Lastly, elements defined in FHH-related specifications were extracted for several standards development and related organizations. Data elements identified from the notes, tools, and specifications were subsequently combined and compared.
In total, 891 notes from three resources, eight tools, and seven specifications associated with four organizations were analyzed. The resulting Integrated FHH Model consisted of 44 data elements for describing source of information, family members, observations, and general statements about family history. Of these elements, 16 were common to all three source types, 17 were common to two, and 11 were unique. Intra-source comparisons also revealed common and unique elements across the different notes, tools, and specifications.
Through examination of multiple sources, a representative and complementary set of FHH data elements was identified. Further work is needed to create formal representations of the Integrated FHH Model, standardize values associated with each element, and inform context-specific implementations.
There has been increased emphasis on the importance of FHH for supporting personalized medicine, biomedical research, and population health. Multi-source development of an integrated model could contribute to improving the standardized collection and use of FHH information in disparate systems.
整合来自多个来源的数据元素，以指导全面且标准化的家族健康史（FHH）收集工作。
分析了三种类型的来源，以识别与FHH收集相关的数据元素。首先，对来自多个资源的临床记录进行FHH信息注释。其次，检查面向患者的FHH工具中针对家庭成员的问题及回答。最后，为几个标准制定机构和相关组织提取FHH相关规范中定义的元素。随后，将从记录、工具和规范中识别出的数据元素进行合并与比较。
总共分析了来自三个资源的891份记录、八个工具以及与四个组织相关的七个规范。最终得到的综合FHH模型由44个数据元素组成，用于描述信息来源、家庭成员、观察结果以及关于家族史的一般陈述。在这些元素中，有16个是所有三种来源类型共有的，17个是两种来源共有的，11个是独特的。来源内部的比较还揭示了不同记录、工具和规范中的共同和独特元素。
通过对多个来源的检查，识别出了一组具有代表性且互补的FHH数据元素。需要进一步开展工作，以创建综合FHH模型的正式表示形式，规范与每个元素相关的值，并为特定情境下的实施提供信息。
人们越来越重视FHH对支持个性化医疗、生物医学研究和人群健康的重要性。综合模型的多源开发有助于改善不同系统中FHH信息的标准化收集和使用。
