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Virtual Platforms for Genetics Evaluation in the Medically Underserved

医疗服务不足地区的遗传学评估虚拟平台

基本信息

批准号：
10395276
负责人：
Seema R Lalani
金额：
$ 31.7万
依托单位：
BAYLOR COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-02-01 至 2024-01-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10395276
关键词：
Adopted Affect Area Caring Cessation of life Child Child Care Childhood Chronic Clinic Clinical Clinical Research Clinical Services Collaborations Communities Community Outreach Competence Congenital Abnormality Consultations Country Decision Making Diagnosis Diagnostic Diagnostic Services Disease Education Evaluation Face Family Genetic Genetic Counseling Genetic Diseases Genetic Services Genomic medicine Genomics Goals Health Health Personnel Health Professional Health Sciences Health Services Accessibility Healthcare Hispanic Income Inequality Infrastructure Intelligence Intervention Latinx Life Life Expectancy Measures Medical Medical Genetics Medicine Mexican Mexico Minority Minority Enrollment Modeling Morbidity - disease rate Neurodegenerative Disorders Neurodevelopmental Problem Online Systems Outcome Pathway interactions Patient Care Patients Phase Physician Assistants Physicians Pilot Projects Population Poverty Primary Health Care Provider Rare Diseases Recommendation Recording of previous events Registries Remote Consultation Resources Rural Service delivery model Site South Texas Surveys Survivors System Technology Test Result Testing Texas Time Training Underserved Population Uninsured United States Universities Vulnerable Populations base child services clinical care clinical decision-making clinical diagnosis clinical practice college design diagnostic tool early childhood ethnic minority experience follow-up genetic disorder diagnosis genetic resource genetic testing genome sequencing health care availability health literacy improved literacy low socioeconomic status lower income families medical complication medically underserved medically underserved population minority communities multidisciplinary non-genetic novel pediatric patients personalized medicine population based prevent primary endpoint public health priorities rapid diagnosis rare genetic disorder recruit research clinical testing research study rural area testing services underserved area urban area virtual virtual platform web services webinar

项目摘要

Project Summary Disparate access to genetic services among ethnic minorities and those with low socioeconomic status has marginalized the most vulnerable populations, particularly children with rare diseases. About one-third of children with rare diseases die before they reach their fifth birthday. There are significant inequalities in genetic services that children currently receive along the Texas-Mexican border in the Rio Grande Valley (RGV) where many of the citizens are underserved and uninsured. While genomic information to improve health outcomes is being integrated in clinical practice elsewhere in the country, significant barriers exist in this impoverished and medically underresourced region of Texas that prevent delivery of essential genetics evaluation. Prioritizing equity and inclusion in health care, we propose to implement one of the first academic web-based virtual clinics called Consultagene in the underresourced regions of Texas to provide clinical evaluation of pediatric rare diseases through front-line clinics. A multidisciplinary team at University of Texas Health Rio Grande Valley clinic and Baylor College of Medicine will clinically evaluate 100 ‘hard to diagnose’ children with rare diseases, with goals of accelerating access to care and intervention. Genome sequencing (GS) will be completed as a first-line test to deliver rapid diagnoses and reduce the time to diagnosis for clinical decision-making. We will also build genomic competency of front-line healthcare providers through use of facial recognition technology and education to expedite referral of pediatric patients with suspected rare diseases. If successfully modeled at the primary partner site (UG3 phase), the strategy will be implemented at Texas Tech University Health Sciences Center (TTUHSC) in El Paso, along the US-Mexico border (UH3 phase). Our ultimate goal is to advance genetics evaluation of pediatric rare diseases in remote marginalized areas of Texas for improving health outcomes and providing avenues for targeted intervention.

项目概要少数民族和社会经济地位较低的人获得遗传服务的机会存在差异地位使最弱势群体边缘化，特别是患有罕见病的儿童疾病。大约三分之一患有罕见疾病的儿童在五岁生日之前死亡。目前儿童接受的遗传服务存在显着的不平等德克萨斯州和墨西哥边境的里奥格兰德河谷 (RGV)，这里有许多公民服务不足且没有保险。虽然改善健康结果的基因组信息正在被与国内其他地方的临床实践相结合，这方面存在重大障碍德克萨斯州贫困且医疗资源不足的地区无法提供必需品遗传学评估。优先考虑医疗保健的公平性和包容性，我们建议实施资源匮乏地区最早的学术网络虚拟诊所之一，名为 Consultagene 德克萨斯州地区通过一线提供儿科罕见病的临床评估诊所。德克萨斯大学健康里奥格兰德河谷诊所的多学科团队贝勒医学院将对 100 名“难以诊断”的罕见罕见病儿童进行临床评估疾病，其目标是加快获得护理和干预的机会。基因组测序 (GS) 将作为一线测试完成，以提供快速诊断并缩短诊断时间用于临床决策。我们还将建立一线医疗保健的基因组能力提供者通过使用面部识别技术和教育来加快转介疑似罕见病的儿科患者。如果在主要合作伙伴处成功建模地点（UG3阶段），该战略将在德克萨斯理工大学健康科学分校实施中心 (TTUHSC) 位于埃尔帕索，沿美墨边境（UH3 阶段）。我们的最终目标是德克萨斯州偏远边缘地区儿科罕见病的先进遗传学评估改善健康结果并提供有针对性的干预途径。