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

项目总结/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人中就有一人受到影响。 尽管PID在历史上被认为主要影响非西班牙裔白色人群，但新兴的 有证据表明，种族和少数民族之间在PID诊断方面存在明显差异。值得注意的是， 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进行筛查，发现任何种族群体的疾病患病率没有差异。微分 获得诊断检测和专科护理的机会，以及诊断偏见，这种偏见植根于普遍的信念， PID主要影响非西班牙裔白色人群，可能导致PID诊断不足， 少数族裔人口。迄今为止，关于少数民族诊断延迟的风险因素的数据仍然很少。 PID患者，目前还没有发表研究调查诊断障碍以及如何 这些问题都可以得到解决。延迟治疗PID可导致严重的健康问题，包括器官 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对服务不足人群的PID的及时诊断和治疗。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PID诊断延迟的模式 （2）确定少数种族和少数民族中PID早期诊断的障碍;以及（3） 试点有针对性的干预措施，以提高对PID诊断差异的认识。我们将联合收割机分析 电子健康记录（EHR）数据（目标1），定性分析患者的生活经验和真实的- 从医疗保健提供者的世界观点来理解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， 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。从这些分析中整合知识，我们将 制定并评估针对医疗保健提供者的教育推广计划，以提高对以下问题的认识： 少数群体在PID诊断方面的差异（目标3）。该研究将在2个主要 马萨诸塞州的医疗保健系统：马萨诸塞州布里格姆将军和波士顿医疗中心。 这项工作的主体是第一个系统的努力，调查模式，和障碍， 在美国少数民族人群中识别PID。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诊断的教育倡议 美国的差距，并将为我们设计和开发一个更长期的目标奠定基础， 区域/国家教育计划，以提高少数民族人群中PID的诊断。

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.