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

少数种族和族裔中原发性免疫缺陷病的诊断不足：认识和教育

• 批准号: 10533223
• 负责人: Jocelyn R Farmer
• 金额: $ 82.44万
• 依托单位: HARVARD PILGRIM HEALTH CARE, INC.
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-19 至 2027-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10533223
• 关键词: Address; Affect; Antibodies; Autoimmunity; Awareness; Belief; Boston; California; Caring; Cessation of life; Clinical; Clinical Immunology; Complex; Data; Data Set; Defect; Diagnosis; Diagnostic; Diagnostic Factor; Diagnostic tests; Disease; Early Diagnosis; Early treatment; Educational Intervention; Effectiveness; Electronic Health Record; Ethnic group; Focus Groups; Foundations; General Hospitals; Goals; Health; Health Personnel; Healthcare Systems; Hospital Referrals; Hospitals; Hypersensitivity; Immune; Immunologic Deficiency Syndromes; Inflammation; Intervention; Interview; Knowledge; Learning; Low income; Machine Learning; Malignant Neoplasms; Massachusetts; Medical center; Minority; Minority Groups; Mission; Mutation; National Institute on Minority Health and Health Disparities; Natural History; Neonatal Screening; New England; Not Hispanic or Latino; Organ; Paint; Patients; Pattern; Persons; Plant Roots; Play; Population; Prevalence; Prevention; Public Health; Publishing; Reduce health disparities; Reporting; Research; Risk Factors; Role; Severe Combined Immunodeficiency; Time; Underserved Population; Woman; comorbidity; congenital immunodeficiency; design; ethnic minority; evidence base; experience; follow-up; improve minority health; improved; innovation; machine learning method; medical specialties; minority patient; outreach program; programs; racial minority; recurrent infection; safety net; screening; social health determinants

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.

项目摘要/摘要 原发性免疫缺乏症（PID）是一种使人衰弱的状况，影响了美国的1200人。 Althooth PID历史悠久，主要影响非西班牙裔白人，出现 有证据表明，在种族和少数民族中诊断PID的差异 过去的PID报告发现，大多数患者是非西班牙裔白人 筛查某些类型的PID发现疾病没有差异 获得诊断测试和专业护理，以及植根于前动力信念的诊断偏见 PID主要影响非西班牙裔白人人口 迄今 PID患者和ALE目前尚未发表研究研究，以调查诊断以及如何 可以解决PID的延迟。 因此，损坏和死亡迫切需要解决PID诊断的差异。 我们的长期目标是改善服务不足人群中PID的及时诊断和信任 这个目标，我们提出了具体目标：（1）确定种族中PID诊断延迟的模式 和少数民族； 试点的相互作用以提高对PID诊断差异的意识。 电子健康记录（EHR）数据（AIM 1），对患者的生活经验和现实进行定性分析 从医疗保健提供者到了解PID早期诊断的障碍的世界观点（AIM 2）。 此外，我们将应用高级机器学习分析，如以-INNOVATIATINID 全面了解诊断延迟的模式。 高度可变的临床表现。 数据可以促进诊断延迟的认可模式，并使我们能够学习 从可伸缩的大型临床数据集中。 制定和评估一个教育外展计划TARTHCARE提供者，以使人们意识到 少数群体经历的PID诊断差异（AIM 3）将在2个主要 马萨诸塞州的医疗保健系统：大众杨百翰和波士顿医疗中心。 这项工作是研究早期模式和障碍的第一个系统努力 拟议的飞行员在美国的少数人口中认识PID。 教育外展计划，首先旨在解决PID诊断的第一个教育计划 在美国的差异，将为我们设计和开发一个目标的目标提供基础 区域/国家教育计划，以改善少数民族人口中PID的诊断。