Virtual Platforms for Genetics Evaluation in the Medically Underserved

项目摘要 少数民族和社会经济水平较低的人获得遗传服务的机会不同 地位边缘化了最脆弱的人群，特别是患有罕见疾病的儿童 疾病。患有罕见疾病的儿童中，约有三分之一在五岁生日前死亡。 目前，儿童在遗传服务方面存在着严重的不平等 位于里奥格兰德山谷(RGV)的德克萨斯州-墨西哥边境，许多市民都在那里 服务不足，没有保险。在基因组信息改善健康结果的同时， 结合国内其他地方的临床实践，这方面存在重大障碍 德克萨斯州贫困和医疗资源不足的地区，阻碍了基本医疗服务的交付 遗传学评估。将公平和包容放在医疗保健的优先位置，我们建议实施 首批基于网络的学术虚拟诊所之一，名为资源不足的咨询 德克萨斯州地区通过一线提供儿科罕见疾病的临床评估 诊所。德克萨斯大学健康里奥格兰德山谷诊所的一个多学科团队 贝勒医学院将对100名难于诊断的罕见儿童进行临床评估 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，以提供快速诊断并减少诊断时间 用于临床决策。我们还将建立一线医疗保健的基因组能力 供应商通过使用面部识别技术和教育来加快转介 疑似罕见疾病的儿科患者。如果在主要合作伙伴处成功建模 Site(UG3阶段)，该战略将在德克萨斯理工大学健康科学学院实施 位于埃尔帕索的美国-墨西哥边境(UH3阶段)中心(TTUHSC)。我们的最终目标是 德克萨斯州边远边缘地区儿科罕见疾病的遗传学研究进展 以改善健康结果，并提供有针对性的干预途径。

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.