Underdiagnosis of primary immunodeficiency disorders among racial and ethnic minorities: Recognize and Educate

项目摘要/摘要 在美国，每1,200人中就有一人患有原发免疫缺乏症。 尽管从历史上看，PID主要影响非西班牙裔白人人口，但正在出现 有证据表明，在种族和少数民族中，对产后出血的诊断存在明显差异。值得注意的是，虽然 以往报告的PID发现，大多数患者是非西班牙裔白人，实施新生儿 对某些类型的盆腔炎的筛查发现，在任何种族群体中，疾病患病率都没有差异。差动 获得诊断检测和专科护理的机会，以及根植于普遍信念的诊断偏见 PID主要影响非西班牙裔白人人口，可能是导致PID被低估的原因之一 少数族裔人口。到目前为止，关于少数族裔诊断延迟的危险因素的数据仍然很少。 患有盆腔炎的患者，目前还没有关于诊断障碍和如何诊断的研究发表 这些问题是可以解决的。延误治疗会导致严重的健康问题，包括器官问题。 损害和死亡。因此，迫切需要解决在诊断盆腔炎方面的差异。 我们的长期目标是在服务不足的人群中改善对盆腔炎的及时诊断和治疗。要实现 为了实现这一目标，我们提出了以下具体目标：(1)确定种族间人格障碍诊断延迟模式 (2)找出在种族和少数民族中早期诊断的障碍；和(3) 试点有针对性的干预措施，以提高对PID诊断差异的认识。我们将结合对 电子健康记录(EHR)数据(目标1)，定性分析患者的生活经历和真实情况 从医疗保健提供者的世界视角了解早期诊断盆腔炎的障碍(目标2)。 此外，我们将应用高级机器学习分析作为一种创新方法，以实现更多 全面了解诊断延迟的模式。PID是一组复杂的疾病， 临床表现多种多样。我们预计，机器学习方法在电子病历中的应用 数据可以帮助识别未被认识到的诊断延迟模式，并使我们能够了解 以可扩展的方式从大型临床数据集中获取数据。结合这些分析所获得的知识，我们将 制定和评估针对医疗保健提供者的教育外展计划，以提高对 少数群体在PID诊断方面的差异(目标3)。这项研究将在两个主要地区进行 马萨诸塞州的医疗保健系统：麻省总医院、布里格姆医院和波士顿医疗中心。 这项工作代表了第一次系统地研究早期的模式和障碍。 美国少数族裔人群对产后应激障碍的认可度。据我们所知，拟议中的飞行员 教育推广计划将是第一个旨在解决PID诊断问题的教育倡议 美国的差距，并将为我们设计和开发 地区/国家教育计划，以改善少数民族人口中的产后应激障碍诊断。

PROJECT SUMMARY/ABSTRACT Primary Immune Deficiency (PID) is a debilitating condition that affects one in 1,200 persons in the US. Although PID has been historically perceived to predominantly affect non-Hispanic white population, emerging evidence suggests stark disparities in the diagnosis of PID among racial and ethnic minorities. Of note, while past reporting of PID found that the majority of patients were non-Hispanic whites, implementation of newborn screening for certain types of PID found no difference in disease prevalence in any ethnic group. Differential access to diagnostic testing and specialty care, as well as diagnostic bias rooted in the prevailing belief that PID primarily affects non-Hispanic white population, may have contributed to the underdiagnosis of PID among minority populations. To date, there remains scant data on the risk factors of diagnostic delay in minority patients with PID, and there are currently no published studies investigating impediments to diagnosis and how they can be addressed. Delay in the treatment of PID can result in serious health problems, including organ damage and death. There is therefore an urgent need to address disparities in the diagnosis of PID. Our long-term goal is to improve timely diagnosis and treatment of PID in underserved populations. To achieve this goal, we propose the following specific aims: (1) Identify patterns of diagnostic delay in PID among racial and ethnic minorities; (2) Identify barriers to early diagnosis of PID among racial and ethnic minorities; and (3) pilot a targeted intervention to improve awareness of disparities in PID diagnosis. We will combine analyses of electronic health record (EHR) data (Aim 1) with qualitative analysis of patients’ lived experience and real- world perspectives from healthcare providers to understanding barriers to early diagnosis of PID (Aim 2). Additionally, we will apply advanced machine learning analysis as an innovative approach to enable a more comprehensive understanding of the patterns of diagnostic delay. PID is a complex group of diseases with highly variable clinical manifestations. We anticipate that the application of machine learning methods to EHR data can facilitate identification of under-recognized patterns of diagnostic delay and will enable us to learn from large clinical datasets in a scalable manner. Integrating knowledge from these analyses, we will then develop and evaluate an educational outreach program targeting healthcare providers to raise awareness of the disparities in PID diagnosis experienced by minority groups (Aim 3). The study will be conducted at 2 major healthcare systems in Massachusetts: Mass General Brigham and Boston Medical Center. This body of work represents the first systematic effort to investigate the patterns of, and barriers to, early recognition of PID among minority populations in the US. To the best of our knowledge, the proposed pilot educational outreach program will be the first educational initiative aimed at addressing PID diagnostic disparities in the US, and will provide a foundation towards our longer-term goal of designing and developing a regional/national educational program to improve diagnosis of PID among minority populations.