A comparison of phenotype definitions for diabetes mellitus
A comparison of phenotype definitions for diabetes mellitus
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DOI：
10.1136/amiajnl-2013-001952
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发表时间：
2013-12-01
影响因子：
6.4
通讯作者：
Spratt, Susan E.
中科院分区：
文献类型：
--
作者：
Richesson, Rachel L.;Rusincovitch, Shelley A.;Spratt, Susan E.
目的本研究比较了使用异质性表型定义的糖尿病队列的产量和特征，材料和方法将7种糖尿病表型定义的纳入标准转化为查询算法，并应用于杜克大学卫生系统的成人患者人群（n=173 503）。符合每个定义和组成部分（诊断，糖尿病相关药物，和实验室检查结果）的标准的患者人数进行了比较。结果三个表型定义的基础上严重的ICD-9-CM代码确定了9-11%的患者人群。达勒姆糖尿病联盟的广义定义包括额外的标准，并确定了13%。电子病历和基因组学、NYC A1 c登记和糖尿病相关药物定义（有限制或无ICD-9-CM标准）确定的患者比例最小（7%）。所有7种表型定义的人口统计学特征相似（56-57%女性，平均年龄范围56-57岁）。在5年观察期内，NYC A1 c登记研究定义的平均患者就诊次数（54）高于其他定义（范围44-48）和参考人群（20）。不同表型定义返回的人群之间的一致性范围从50%到86%。总体而言，符合ICD-9-CM和实验室标准的患者多于药物标准，但仅符合异常实验室标准的患者数量大于仅符合诊断或药物数据的患者数量。讨论表型定义之间的差异可能会影响其在医疗机构中的应用以及随后的数据解释。结论进一步的研究集中在定义表型的临床特征上。标准糖尿病队列对于确定健康、政策和研究的适当表型定义是重要的。
Objective This study compares the yield and characteristics of diabetes cohorts identified using heterogeneous phenotype definitions.Materials and methods Inclusion criteria from seven diabetes phenotype definitions were translated into query algorithms and applied to a population (n=173 503) of adult patients from Duke University Health System. The numbers of patients meeting criteria for each definition and component (diagnosis, diabetes-associated medications, and laboratory results) were compared.Results Three phenotype definitions based heavily on ICD-9-CM codes identified 9-11% of the patient population. A broad definition for the Durham Diabetes Coalition included additional criteria and identified 13%. The electronic medical records and genomics, NYC A1c Registry, and diabetes-associated medications definitions, which have restricted or no ICD-9-CM criteria, identified the smallest proportions of patients (7%). The demographic characteristics for all seven phenotype definitions were similar (56-57% women, mean age range 56-57 years). The NYC A1c Registry definition had higher average patient encounters (54) than the other definitions (range 44-48) and the reference population (20) over the 5-year observation period. The concordance between populations returned by different phenotype definitions ranged from 50 to 86%. Overall, more patients met ICD-9-CM and laboratory criteria than medication criteria, but the number of patients that met abnormal laboratory criteria exclusively was greater than the numbers meeting diagnostic or medication data exclusively.Discussion Differences across phenotype definitions can potentially affect their application in healthcare organizations and the subsequent interpretation of data.Conclusions Further research focused on defining the clinical characteristics of standard diabetes cohorts is important to identify appropriate phenotype definitions for health, policy, and research.