Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network
Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network
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DOI：
10.1136/amiajnl-2012-000896
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发表时间：
2013-06-01
影响因子：
6.4
通讯作者：
Denny, Joshua C.
中科院分区：
文献类型：
--
作者：
Newton, Katherine M.;Peissig, Peggy L.;Denny, Joshua C.
背景遗传学研究需要精确的表型定义，但电子病历（EMR）的表型数据记录不一致，并在各种formates.Objective电子病历和基因组学（eMERGE）studies.Materials and methods的经验教训，目前有关验证EMR为基础的表型网络创建和验证13 EMR衍生的表型算法。网络站点是Group Health、Marshfield Clinic、马约诊所、西北大学和范德比尔特大学。结果通过验证EMR衍生表型，我们了解到：（1）多位点验证提高了表型算法的准确性;（2）应仔细考虑和定义验证目标;（3）指定变量审查的时间框架，简化了验证时间，提高了准确性;（4）使用重复测量需要定义相关的时间段，并指定要研究的最有意义的值;（5）患者进入和退出健康计划（短暂性）可能导致数据不完整或碎片化;（6）应仔细定义审查范围;（7）在合并EMR和研究数据时需要特别小心;（8）可以使用索赔、分发的药物或处方的药物来评估药物数据;（9）算法开发和验证最好作为迭代过程;和（10）由内容专家或结构化图表审查进行验证可以提供准确的结果。结论尽管eMERGE网站的五个EMR结构不同，但我们开发、验证并成功部署了13个电子表型算法。验证是一个有价值的过程，不仅可以测量表型性能，还可以加强表型算法定义并增强其机构间共享。
Background Genetic studies require precise phenotype definitions, but electronic medical record (EMR) phenotype data are recorded inconsistently and in a variety of formats.Objective To present lessons learned about validation of EMR-based phenotypes from the Electronic Medical Records and Genomics (eMERGE) studies.Materials and methods The eMERGE network created and validated 13 EMR-derived phenotype algorithms. Network sites are Group Health, Marshfield Clinic, Mayo Clinic, Northwestern University, and Vanderbilt University.Results By validating EMR-derived phenotypes we learned that: (1) multisite validation improves phenotype algorithm accuracy; (2) targets for validation should be carefully considered and defined; (3) specifying time frames for review of variables eases validation time and improves accuracy; (4) using repeated measures requires defining the relevant time period and specifying the most meaningful value to be studied; (5) patient movement in and out of the health plan (transience) can result in incomplete or fragmented data; (6) the review scope should be defined carefully; (7) particular care is required in combining EMR and research data; (8) medication data can be assessed using claims, medications dispensed, or medications prescribed; (9) algorithm development and validation work best as an iterative process; and (10) validation by content experts or structured chart review can provide accurate results.Conclusions Despite the diverse structure of the five EMRs of the eMERGE sites, we developed, validated, and successfully deployed 13 electronic phenotype algorithms. Validation is a worthwhile process that not only measures phenotype performance but also strengthens phenotype algorithm definitions and enhances their inter-institutional sharing.