Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network.
Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network.
复制标题
利用国家儿科网络的电子健康记录开发和验证特纳综合征的可计算表型。
DOI：
10.1101/2023.07.19.23292889
复制
发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Davis,ShanleeM
中科院分区：
文献类型：
--
作者：
Huang,SarahD;Bamba,Vaneeta;Bothwell,Samantha;Fechner,PatriciaY;Furniss,Anna;Ikomi,Chijioke;Nahata,Leena;Nokoff,NatalieJ;Pyle,Laura;Seyoum,Helina;Davis,ShanleeM
特纳综合征（TS）是一种遗传性疾病，发生在约1/2000的女性中，其特征是完全或部分缺失第二性染色体。TS研究面临着许多其他儿科罕见疾病的类似挑战，具有同质，单中心，动力不足的研究。利用电子健康记录（EHR）的二次数据分析有可能解决这些局限性;然而，需要一种算法来准确识别EHR数据中的TS病例。我们开发了一种可计算的表型，以确定患者与TS使用PEDSnet，儿科研究网络。该可计算表型通过图表审查进行验证;真阳性和假阴性以及假阳性和假阴性用于评估主要和外部验证中心的准确度。最佳算法包括以下标准：女性、≥1次门诊就诊和≥3次就诊的诊断代码映射到TS，所有研究中心的平均灵敏度为0.97，特异性为0.88，C-统计量为0.93。任何雌二醇处方的准确性产生的平均C-统计量为0.91（各研究中心）和0.80（透皮制剂和口服制剂）。PEDSnet和可计算表型分析是强大的工具，可以提供大量不同的样本，以务实地研究罕见的儿科疾病，如TS。
Turner syndrome (TS) is a genetic condition occurring in ~1 in 2000 females characterized by the complete or partial absence of the second sex chromosome. TS research faces similar challenges to many other pediatric rare disease conditions, with homogenous, single‐center, underpowered studies. Secondary data analyses utilizing electronic health record (EHR) have the potential to address these limitations; however, an algorithm to accurately identify TS cases in EHR data is needed. We developed a computable phenotype to identify patients with TS using PEDSnet, a pediatric research network. This computable phenotype was validated through chart review; true positives and negatives and false positives and negatives were used to assess accuracy at both primary and external validation sites. The optimal algorithm consisted of the following criteria: female sex, ≥1 outpatient encounter, and ≥3 encounters with a diagnosis code that maps to TS, yielding an average sensitivity of 0.97, specificity of 0.88, andC‐statistic of 0.93 across all sites. The accuracy of any estradiol prescriptions yielded an averageC‐statistic of 0.91 across sites and 0.80 for transdermal and oral formulations separately. PEDSnet and computable phenotyping are powerful tools in providing large, diverse samples to pragmatically study rare pediatric conditions like TS.