在电子健康记录中识别性少数群体和性别少数群体的可计算表型。

AMIA ... Annual Symposium proceedings. AMIA Symposium Pub Date : 2024-01-11 eCollection Date: 2023-01-01
Yongqiu Li, Xing He, Christopher Wheldon, Yonghui Wu, Mattia Prosperi, Elizabeth A Shenkman, Michael S Jaffee, Jingchuan Guo, Fei Wang, Yi Guo, Jiang Bian
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引用次数: 0

摘要

包括女同性恋、男同性恋和双性恋 (LGB) 在内的性性别少数群体因歧视、污名化和边缘化而面临独特的挑战,这对他们的福祉产生了负面影响。电子健康记录(EHR)系统为女同性恋、男同性恋、双性恋和变性者的研究提供了机会,但在 EHR 中准确识别女同性恋、男同性恋、双性恋和变性者却具有挑战性。我们的研究开发并验证了一种基于规则的可计算表型 (CP),利用来自大型综合医疗系统的结构化数据和非结构化临床叙述来识别 LGB 个人及其亚群。通过对 537 例病历审查患者样本进行验证,我们的三种性能最佳的 CP 算法平衡了不同的性能指标,在识别 LGB 个人方面分别达到了 1.000 的灵敏度、0.982 的 PPV 和 0.875 的 F1 分数。通过应用这三种性能最佳的 CP,我们的研究还发现,LGB 群体更年轻,其不良健康后果的负担过重,尤其是心理健康困扰。
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A Computable Phenotype for the Identification of Sexual and Gender Minorities in Electronic Health Records.

Sexual gender minorities, including lesbian, gay, and bisexual (LGB) individuals face unique challenges due to discrimination, stigma, and marginalization, which negatively impact their well-being. Electronic health record (EHR) systems present an opportunity for LGB research, but accurately identifying LGB individuals in EHRs is challenging. Our study developed and validated a rule-based computable phenotype (CP) to identify LGB individuals and their subgroups using both structured data and unstructured clinical narratives from a large integrated health system. Validating against a sample of 537 chart-reviewed patients, our three best performing CP algorithms balancing different performance metrics, each achieved sensitivity of 1.000, PPV of 0.982, and F1-score of 0.875 in identifying LGB individuals, respectively. Applying the three best-performing CPs, our study also found that the LGB population is younger and experiences a disproportionate burden of adverse health outcomes, particularly mental health distress.

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