STUDY QUESTION How do endometriosis diagnoses and subtypes reported in administrative health data compare with surgically confirmed disease? SUMMARY ANSWER For endometriosis diagnosis, we observed substantial agreement and high sensitivity and specificity between administrative health data—International Classification of Diseases (ICD) 9 codes—and surgically confirmed diagnoses among participants who underwent gynecologic laparoscopy or laparotomy. WHAT IS KNOWN ALREADY Several studies have assessed the validity of self-reported endometriosis in comparison to medical record reporting, finding strong confirmation. We previously reported high inter- and intra-surgeon agreement for endometriosis diagnosis in the Endometriosis, Natural History, Diagnosis, and Outcomes (ENDO) Study. STUDY DESIGN, SIZE, DURATION In this validation study, participants (n = 412) of the Utah operative cohort of the ENDO Study (2007–2009) were linked to medical records from the Utah Population Database (UPDB) to compare endometriosis diagnoses from each source. The UPDB is a unique database containing linked data on over 11 million individuals, including statewide ambulatory and inpatient records, state vital records, and University of Utah Health and Intermountain Healthcare electronic healthcare records, capturing most Utah residents. PARTICIPANTS/MATERIALS, SETTING, METHODS The ENDO operative cohort consisted of individuals aged 18–44 years with no prior endometriosis diagnosis who underwent gynecologic laparoscopy or laparotomy for a variety of surgical indications. In total, 173 women were diagnosed with endometriosis based on surgical visualization of disease, 35% with superficial endometriosis, 9% with ovarian endometriomas, and 14% with deep infiltrating endometriosis. Contemporary administrative health data from the UPDB included ICD diagnostic codes from Utah Department of Health in-patient and ambulatory surgery records and University of Utah and Intermountain Health electronic health records. MAIN RESULTS AND THE ROLE OF CHANCE For endometriosis diagnosis, we found relatively high sensitivity (0.88) and specificity (0.87) and substantial agreement (Kappa [Κ] = 0.74). We found similarly high sensitivity, specificity, and agreement for superficial endometriosis (n = 143, 0.86, 0.83, Κ = 0.65) and ovarian endometriomas (n = 38, 0.82, 0.92, Κ = 0.58). However, deep infiltrating endometriosis (n = 58) had lower sensitivity (0.12) and agreement (Κ = 0.17), with high specificity (0.99). LIMITATIONS, REASONS FOR CAUTION Medication prescription data and unstructured data, such as clinical notes, were not included in the UPDB data used for this study. These additional data types could aid in detection of endometriosis. Most participants were white or Asian with Hispanic ethnicity reported 11% of the time, which may limit generalizability to some US states. Additionally, given that participants whose administrative health records we utilized were also part of the ENDO Study, the surgeons may have been more vigilant in diagnostic coding due to the operative forms they completed for the ENDO Study, which may have led to increased validity. However, the codes compared in the UPDB would have been entered by medical coders as part of standard clinical practice. WIDER IMPLICATIONS OF THE FINDINGS We observed substantial agreement between administrative health data and surgically confirmed endometriosis diagnoses overall, and for superficial and ovarian endometrioma subtypes. These findings may provide reassurance to researchers using administrative healthcare records to assess risk factors and long-term health outcomes of endometriosis. Our findings corroborate prior research that demonstrates high specificity but low sensitivity for deep infiltrating endometriosis, indicating deep infiltrating endometriosis is not reliably annotated in administrative healthcare data. This suggests that medical record-based deep infiltrating endometriosis diagnoses may be suitable for etiologic studies but not for surveillance or detection studies. STUDY FUNDING/COMPETING INTEREST(S) The original ENDO Study was funded by the Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (contracts NO1-DK-6-3428; NO1-DK-6-3427; 10001406-02). We acknowledge partial support for the UPDB through grant P30 CA2014 from the National Cancer Institute, University of Utah and from the University of Utah’s program in Personalized Health and Center for Clinical and Translational Science. This research was also supported by the NCRR grant, ‘Sharing Statewide Health Data for Genetic Research’ (R01 RR021746, G. Mineau, PI) with additional support from the Utah Department of Health and Human Services, University of Utah. Additionally, this research was supported by the Utah Cancer Registry, which is funded by the National Cancer Institute’s SEER Program, Contract No. HHSN261201800016I, the US Centers for Disease Control and Prevention’s National Program of Cancer Registries, Cooperative Agreement No. NU58DP007131, with additional support from the University of Utah and Huntsman Cancer Foundation. Research reported in this publication was also supported by the National Institutes of Health (Award Numbers R01HL164715 [to L.V.F., K.C.S., and A.Z.P.] and K01AG058781 [to K.C.S.]), by the Huntsman Cancer Institute’s Breast and Gynecologic Cancers Center, and by the Doris Duke Foundation’s COVID-19 Fund to Retain Clinical Scientists funded by the American Heart Association. A.C.K. was supported by Training Grant Number 5T15LM007124 from the National Library of Medicine to K.E. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health or other sponsors. There are no competing interests among any of the authors. TRIAL REGISTRATION NUMBER N/A.

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验证用于识别子宫内膜异位症诊断的行政健康数据


研究问题 管理健康数据中报告的子宫内膜异位症诊断和亚型与手术确诊的疾病相比如何？总结答案 对于子宫内膜异位症的诊断，我们观察到行政健康数据（国际疾病分类 （ICD） 9 代码）与接受妇科腹腔镜检查或剖腹手术的参与者的手术确诊之间存在实质性的一致性和高敏感性和特异性。已经知道的几项研究评估了自我报告的子宫内膜异位症与病历报告相比的有效性，发现了强有力的证实。我们之前在子宫内膜异位症、自然历史、诊断和结果 （ENDO） 研究中报道了外科医生间和外科医生内对子宫内膜异位症诊断的高度一致性。研究设计、规模、持续时间 在这项验证研究中，ENDO 研究 （412-2007） 的犹他州手术队列的参与者 （n = 2009） 与犹他州人口数据库 （UPDB） 的医疗记录相关联，以比较每个来源的子宫内膜异位症诊断。UPDB 是一个独特的数据库，包含超过 1100 万人的链接数据，包括全州门诊和住院记录、州生命记录以及犹他大学健康和 Intermountain Healthcare 电子医疗保健记录，捕获了大多数犹他州居民。参与者/材料、设置、方法 ENDO 手术队列由 18-44 岁且既往未诊断为子宫内膜异位症的个体组成，他们因各种手术适应症接受了妇科腹腔镜检查或剖腹手术。共有 173 名女性根据疾病的手术可视化被诊断为子宫内膜异位症，35% 为浅表子宫内膜异位症，9% 为卵巢子宫内膜异位症，14% 为深部浸润性子宫内膜异位症。 来自 UPDB 的当代行政健康数据包括来自犹他州卫生部住院和门诊手术记录以及犹他大学和 Intermountain Health 电子健康记录的 ICD 诊断代码。主要结果和机会的作用对于子宫内膜异位症的诊断，我们发现敏感性 （0.88） 和特异性 （0.87） 和基本一致性 （Kappa [Κ] = 0.74）。我们发现浅表子宫内膜异位症 （n = 143， 0.86， 0.83， Κ = 0.65） 和卵巢子宫内膜异位症 （n = 38， 0.82， 0.92， Κ = 0.58） 的敏感性、特异性和一致性同样高。然而，深部浸润性子宫内膜异位症 （n = 58） 的敏感性 （0.12） 和一致性 （Κ = 0.17） 较低，特异性较高 （0.99）。局限性，谨慎的原因 药物处方数据和非结构化数据，例如临床记录，不包括在本研究使用的 UPDB 数据中。这些额外的数据类型可能有助于检测子宫内膜异位症。大多数参与者是白人或亚裔，西班牙裔报告了 11% 的时间，这可能限制了对美国某些州的普遍性。此外，鉴于我们使用的参与者的行政健康记录也是 ENDO 研究的一部分，由于他们为 ENDO 研究填写了手术表格，外科医生可能在诊断编码方面更加警惕，这可能导致有效性增加。然而，在 UPDB 中比较的代码将由医学编码员作为标准临床实践的一部分输入。研究结果的更广泛意义我们观察到行政健康数据与手术证实的子宫内膜异位症总体诊断之间以及浅表和卵巢子宫内膜异位症亚型之间的实质性一致性。 这些发现可能会为研究人员使用行政医疗保健记录来评估子宫内膜异位症的风险因素和长期健康结果提供保证。我们的研究结果证实了先前的研究，该研究证明深部浸润性子宫内膜异位症具有高特异性但敏感性低，这表明深部浸润性子宫内膜异位症在行政医疗保健数据中没有得到可靠的注释。这表明基于病历的深部浸润性子宫内膜异位症诊断可能适用于病因学研究，但不适用于监测或检测研究。研究资金/利益争夺 最初的 ENDO 研究由美国国立卫生研究院 Eunice Kennedy Shriver 国家儿童健康与人类发展研究所的校内研究计划资助（合同编号 1-DK-6-3428;编号1-DK-6-3427;10001406-02）。我们感谢犹他大学国家癌症研究所和犹他大学个性化健康项目以及临床和转化科学中心的赠款 P30 CA2014 对 UPDB 的部分支持。这项研究还得到了 NCRR 赠款“共享全州健康数据以进行基因研究”（R01 RR021746，G. Mineau，PI）的支持，并得到了犹他大学犹他州卫生与公众服务部的额外支持。此外，这项研究得到了犹他州癌症登记处的支持，该登记处由美国国家癌症研究所的 SEER 计划资助，合同编号。HHSN261201800016I，美国疾病控制和预防中心的国家癌症登记计划，合作协议编号。NU58DP007131，得到了犹他大学和亨斯迈癌症基金会的额外支持。 本出版物中报告的研究还得到了美国国立卫生研究院（奖项编号 R01HL164715 [L.V.F.、K.C.S. 和 A.Z.P.] 和 K01AG058781 [K.C.S.]）、亨斯迈癌症研究所的乳腺癌和妇科癌症中心以及 Doris Duke 基金会的 COVID-19 基金的支持，该基金由美国心脏协会资助。A.C.K. 得到了美国国家医学图书馆对 KE 的培训资助编号 5T15LM007124 的支持。内容完全由作者负责，并不一定代表美国国立卫生研究院或其他赞助商的官方观点。任何作者之间都没有利益争夺。试验注册号 N/A。