Magee Drenen J, Kicker Sierra, Thomas Aeisha
Department of Biological and Health Sciences, Crown College, St Bonifacius, MN 55375, United States.
J Am Med Inform Assoc. 2025 Mar 1;32(3):579-585. doi: 10.1093/jamia/ocae241.
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.
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.
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.
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.
我们旨在证明“我们所有人”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，因为其规模庞大且数据类型多样。
我们搜索了公共数据浏览器、电子健康记录（EHR）以及多项调查，以调查特定RUD的患病率、心理健康、医疗服务可及性及其他数据。
有几种RUD在“我们所有人”中有参与者[例如，100种罕见传染病（RID）中有75种]。我们为未确诊疾病、镰状细胞病（SCD）、囊性纤维化（CF）以及传染病（2种疾病）和慢性病（4种疾病）池生成了与健康相关的数据。
我们的结果凸显了“我们所有人”数据库在数据广度和深度方面的潜在价值，有助于确定针对共同的和特定疾病的生物医学及其他问题（如医疗服务可及性）的可能解决方案，从而加强对RUD群体的诊断、治疗、预防和支持。
