Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.
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DOI：
10.1161/jaha.123.030073
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发表时间：
2023-07-04
影响因子：
5.4
通讯作者：
中科院分区：
文献类型：
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作者：
由于同一队列中缺乏表型和基因组数据，对电子健康记录进行数据挖掘以识别疑似家族性高胆固醇血症(FH)的患者一直受到限制。使用Geisinger MyCode社区卫生倡议队列(n=130 257)，我们运行了两种筛查算法(Mayo诊所[Mayo]和FLAG、IDENTIFY、NETWORK、DELIVER[FIND]FH)来确定FH的遗传和表型诊断结果。通过Mayo排除的29个 243(高胆固醇血症的继发性原因，电子健康记录中没有血脂值)，Find FH排除的52个 034(不足以运行模型的数据)，以及先前FH诊断排除的187个，最终创建了59个 729参与者的队列。基因诊断是基于FH基因中存在致病或可能致病的变异。回顾了180名变异阴性参与者(60名对照，120名由Find FH和Mayo确定)的图表，以计算荷兰脂质诊所网络评分；分数≥5定义了可能的表型FH。梅奥标记了10名 415名受试者；194名(1.9%)有致病或可能致病的FH变异。发现FH标记为573；34个(5.9%)具有致病或可能的致病变异，给出了280个中的197个(70%)的净产量。表型诊断的确认受到缺乏有关体检结果或家族史的电子健康记录数据的限制。通过图表回顾，表型FH出现在Mayo和/或发现FH的120人中有13人，而60人中有2人没有标记(P<；0.09)。将2个公认的FH筛查算法应用于Geisinger MyCode社区健康倡议，发现70%的人带有致病或可能致病的FH变异。由于数据缺失，表型诊断很少实现。
Data mining of electronic health records to identify patients suspected of familial hypercholesterolemia (FH) has been limited by absence of both phenotypic and genomic data in the same cohort. Using the Geisinger MyCode Community Health Initiative cohort (n=130 257), we ran 2 screening algorithms (Mayo Clinic [Mayo] and flag, identify, network, deliver [FIND] FH) to determine FH genetic and phenotypic diagnostic yields. With 29 243 excluded by Mayo (for secondary causes of hypercholesterolemia, no lipid value in electronic health records), 52 034 excluded by FIND FH (insufficient data to run the model), and 187 excluded for prior FH diagnosis, a final cohort of 59 729 participants was created. Genetic diagnosis was based on presence of a pathogenic or likely pathogenic variant in FH genes. Charts from 180 variant‐negative participants (60 controls, 120 identified by FIND FH and Mayo) were reviewed to calculate Dutch Lipid Clinic Network scores; a score ≥5 defined probable phenotypic FH. Mayo flagged 10 415 subjects; 194 (1.9%) had a pathogenic or likely pathogenic FH variant. FIND FH flagged 573; 34 (5.9%) had a pathogenic or likely pathogenic variant, giving a net yield from both of 197 out of 280 (70%). Confirmation of a phenotypic diagnosis was constrained by lack of electronic health record data on physical findings or family history. Phenotypic FH by chart review was present by Mayo and/or FIND FH in 13 out of 120 versus 2 out of 60 not flagged by either (P<0.09). Applying 2 recognized FH screening algorithms to the Geisinger MyCode Community Health Initiative identified 70% of those with a pathogenic or likely pathogenic FH variant. Phenotypic diagnosis was rarely achievable due to missing data.
影响因子：
2.7
作者：
Qureshi N;Akyea RK;Dutton B;Leonardi-Bee J;Humphries SE;Weng S;Kai J
通讯作者：
Kai J