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探索电子健康记录中家族病史文档在精准医学方面的差距——以家族性高胆固醇血症确诊为例的研究

Exploring Gaps of Family History Documentation in EHR for Precision Medicine -A Case Study of Familial Hypercholesterolemia Ascertainment.

作者信息

Mehrabi Saeed, Wang Yanshan, Ihrke Donna, Liu Hongfang

机构信息

Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA; USA.

出版信息

AMIA Jt Summits Transl Sci Proc. 2016 Jul 20;2016:160-6. eCollection 2016.

Abstract

In the era of precision medicine, accurately identifying familial conditions is crucial for providing target treatment. However, it is challenging to identify familial conditions without detailed family history information. In this work, we studied the documentation of family history of premature cardiovascular disease and hypercholesterolemia. The information on patients' family history of stroke within the Patient-provided information (PPI) forms was compared with the information gathered by clinicians in clinical notes. The agreement between PPI and clinical notes on absence of family history information in PPI was substantially higher compared to presence of family history.

摘要

在精准医学时代,准确识别家族性疾病对于提供靶向治疗至关重要。然而,在没有详细家族史信息的情况下识别家族性疾病具有挑战性。在这项研究中,我们研究了早发性心血管疾病和高胆固醇血症家族史的记录情况。将患者提供信息(PPI)表格中有关中风家族史的信息与临床医生在临床记录中收集的信息进行了比较。与有家族史的情况相比,PPI中无家族史信息时PPI与临床记录之间的一致性要高得多。

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