Descriptive epidemiology demonstrating the All of Us database as a versatile resource for the rare and undiagnosed disease community.

IF 4.7 2区医学 Q1 COMPUTER SCIENCE, INFORMATION SYSTEMS Journal of the American Medical Informatics Association Pub Date : 2024-12-23 DOI:10.1093/jamia/ocae241

Drenen J Magee, Sierra Kicker, Aeisha Thomas

{"title":"Descriptive epidemiology demonstrating the All of Us database as a versatile resource for the rare and undiagnosed disease community.","authors":"Drenen J Magee, Sierra Kicker, Aeisha Thomas","doi":"10.1093/jamia/ocae241","DOIUrl":null,"url":null,"abstract":"Objective: We aim to demonstrate the versatility of the All of Us database as an important source of rare and undiagnosed disease (RUD) data, because of its large size and range of data types.Materials and methods: We searched the public data browser, electronic health record (EHR), and several surveys to investigate the prevalence, mental health, healthcare access, and other data of select RUDs.Results: Several RUDs have participants in All of Us [eg, 75 of 100 rare infectious diseases (RIDs)]. We generated health-related data for undiagnosed, sickle cell disease (SCD), cystic fibrosis (CF), and infectious (2 diseases) and chronic (4 diseases) disease pools.Conclusion: Our results highlight the potential value of All of Us with both data breadth and depth to help identify possible solutions for shared and disease-specific biomedical and other problems such as healthcare access, thus enhancing diagnosis, treatment, prevention, and support for the RUD community.","PeriodicalId":50016,"journal":{"name":"Journal of the American Medical Informatics Association","volume":" ","pages":""},"PeriodicalIF":4.7000,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the American Medical Informatics Association","FirstCategoryId":"91","ListUrlMain":"https://doi.org/10.1093/jamia/ocae241","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"COMPUTER SCIENCE, INFORMATION SYSTEMS","Score":null,"Total":0}

引用次数: 0

Abstract

Objective: We aim to demonstrate the versatility of the All of Us database as an important source of rare and undiagnosed disease (RUD) data, because of its large size and range of data types.

Materials and methods: We searched the public data browser, electronic health record (EHR), and several surveys to investigate the prevalence, mental health, healthcare access, and other data of select RUDs.

Results: Several RUDs have participants in All of Us [eg, 75 of 100 rare infectious diseases (RIDs)]. We generated health-related data for undiagnosed, sickle cell disease (SCD), cystic fibrosis (CF), and infectious (2 diseases) and chronic (4 diseases) disease pools.

Conclusion: Our results highlight the potential value of All of Us with both data breadth and depth to help identify possible solutions for shared and disease-specific biomedical and other problems such as healthcare access, thus enhancing diagnosis, treatment, prevention, and support for the RUD community.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

描述流行病学证明All of Us数据库是罕见和未确诊疾病社区的通用资源。

目的：我们的目标是展示All of Us数据库作为罕见和未确诊疾病（RUD）数据的重要来源的多功能性，因为它的数据规模大，数据类型范围广。材料和方法：我们检索了公共数据浏览器、电子健康记录（EHR）和几项调查，以调查所选RUDs的患病率、心理健康、医疗保健可及性和其他数据。结果：一些罕见传染病在All of Us中有参与者[例如，100种罕见传染病（rid）中有75种]。我们生成了未确诊的镰状细胞病（SCD）、囊性纤维化（CF）、感染性（2种疾病）和慢性（4种疾病）疾病池的健康相关数据。结论：我们的研究结果突出了All of Us的潜在价值，其数据广度和深度有助于确定共享和特定疾病的生物医学和其他问题（如医疗保健获取）的可能解决方案，从而加强对RUD社区的诊断、治疗、预防和支持。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

Journal of the American Medical Informatics Association 医学-计算机：跨学科应用

CiteScore

14.50

自引率

7.80%

发文量

230

审稿时长

3-8 weeks

期刊介绍： JAMIA is AMIA''s premier peer-reviewed journal for biomedical and health informatics. Covering the full spectrum of activities in the field, JAMIA includes informatics articles in the areas of clinical care, clinical research, translational science, implementation science, imaging, education, consumer health, public health, and policy. JAMIA''s articles describe innovative informatics research and systems that help to advance biomedical science and to promote health. Case reports, perspectives and reviews also help readers stay connected with the most important informatics developments in implementation, policy and education.