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

项目概要/摘要 原发性免疫缺陷 (PID) 是一种使人衰弱的疾病，在美国每 1,200 人中就有一人患有这种疾病。 尽管历来认为盆腔炎主要影响非西班牙裔白人，但新兴的 有证据表明，少数种族和族裔之间的 PID 诊断存在明显差异。值得注意的是，同时 过去的 PID 报告发现，大多数患者是非西班牙裔白人，实施新生儿 对某些类型的 PID 的筛查发现，任何种族群体的疾病患病率都没有差异。差速器 获得诊断测试和专业护理的机会，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，可能是导致 PID 诊断不足的原因 少数民族人口。迄今为止，关于少数群体诊断延迟的危险因素的数据仍然很少 PID 患者，目前还没有发表的研究调查诊断的障碍以及如何 这些问题是可以得到解决的。延误 PID 治疗可能会导致严重的健康问题，包括器官问题 伤害和死亡。因此，迫切需要解决 PID 诊断中的差异。 我们的长期目标是改善服务不足的人群对 PID 的及时诊断和治疗。达到 为了实现这一目标，我们提出以下具体目标： (1) 确定种族间 PID 诊断延迟的模式 和少数民族； (2) 确定少数种族和族裔中早期诊断 PID 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。我们将结合分析 电子健康记录 (EHR) 数据（目标 1），对患者的生活经历和真实情况进行定性分析 从医疗保健提供者的世界角度了解 PID 早期诊断的障碍（目标 2）。 此外，我们将应用先进的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， 临床表现高度可变。我们预计机器学习方法在 EHR 中的应用 数据可以帮助识别未被充分认识的诊断延迟模式，并使我们能够学习 以可扩展的方式从大型临床数据集中获得。整合这些分析中的知识，我们将 制定和评估针对医疗保健提供者的教育外展计划，以提高人们的认识 少数群体在 PID 诊断方面的差异（目标 3）。该研究将在2个专业进行 马萨诸塞州的医疗保健系统：麻省总医院布里格姆和波士顿医疗中心。 这项工作代表了第一个系统性的努力来调查早期的模式和障碍。 美国少数族裔对 PID 的认识。据我们所知，拟议的试点 教育推广计划将是第一个旨在解决 PID 诊断问题的教育计划 的差异，并将为我们设计和开发一个长期目标奠定基础 旨在改善少数民族人群盆腔炎诊断的地区/国家教育计划。

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.