Are electronic health records ready for genomic medicine?
Are electronic health records ready for genomic medicine?
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DOI：
10.1097/gim.0b013e3181a53331
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发表时间：
2009-07-01
影响因子：
8.8
通讯作者：
Teleki, Stephanie
中科院分区：
文献类型：
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作者：
Scheuner, Maren T.;de Vries, Han;Teleki, Stephanie
目的：该项目的目标是评估电子健康记录中的遗传/基因组内容。方法：对关键知情人进行半结构化访谈。问题涉及家族史和基因检测信息的记录、组织、显示、决策支持和安全，以及与将遗传/基因组内容整合到电子健康记录中相关的挑战和机遇。结果：共有 56 名参与者：10 名电子健康记录专家、18 名初级保健临床医生、16 名医学遗传学家和 12 名遗传咨询师。很少有临床医生认为他们的电子记录满足他们当前的遗传/基因组医学需求。融合的障碍主要与家族史数据收集、记录和组织问题有关。对遗传学内容缺乏需求和隐私问题也被认为是挑战。临床医生看到的数据元素和功能要求包括：谱系图；家族风险评估和基因检测指征的临床决策支持；用于患者输入数据的患者门户；数据元素、术语、结构、互操作性和临床决策支持规则的标准。尽管大多数人表示遗传学/基因组学对当今的电子记录影响不大，但许多人表示遗传学/基因组学将成为未来 5-10 年内容的驱动力。结论：电子健康记录有潜力实现遗传/基因组医学的临床整合并改善个性化医疗保健的提供；然而，需要结构化和标准化的数据元素和功能要求。基因医学 2009:11(7):510-517。
Purpose: The goal of this project was to assess genetic/genomic content in electronic health records. Methods: Semistructured interviews were conducted with key informants. Questions addressed documentation, organization, display, decision support and security of family history and genetic test information, and challenges and opportunities relating to integrating genetic/genomics content in electronic health records. Results: There were 56 participants: 10 electronic health record specialists, 18 primary care clinicians, 16 medical geneticists, and 12 genetic counselors. Few clinicians felt their electronic record met their current genetic/genomic medicine needs. Barriers to integration were mostly related to problems with family history data collection, documentation, and organization. Lack of demand for genetics content and privacy concerns were also mentioned as challenges. Data elements and functionality requirements that clinicians see include: pedigree drawing; clinical decision support for familial risk assessment and genetic testing indications; a patient portal for patient-entered data; and standards for data elements, terminology, structure, interoperability, and clinical decision support rules. Although most said that there is little impact of genetics/genomics on electronic records today, many stated genetics/genomics would be a driver of content in the next 5-10 years. Conclusions: Electronic health records have the potential to enable clinical integration of genetic/genomic medicine and improve delivery of personalized health care; however, structured and standardized data elements and functionality requirements are needed. Genet Med 2009:11(7):510-517.