Virtual Platforms for Genetics Evaluation in the Medically Underserved

项目摘要 少数民族和社会经济地位低的人获得遗传服务的机会不同 最弱势群体，特别是患有罕见疾病的儿童， 疾病大约三分之一患有罕见疾病的儿童在五岁生日前死亡。 儿童目前沿着 得克萨斯州和墨西哥边境的格兰德河山谷（RGV），那里的许多公民 服务不足没有保险虽然改善健康结果的基因组信息正在 在国内其他地方的临床实践中， 德克萨斯州贫困和医疗资源不足的地区， 遗传学评价为了优先考虑保健方面的公平和包容，我们建议实施 第一个基于网络的学术虚拟诊所之一，名为Consultagene， 德克萨斯州的地区通过一线提供儿科罕见疾病的临床评估 诊所。德克萨斯大学健康格兰德河谷诊所的一个多学科小组， 贝勒医学院将临床评估100名“难以诊断”的儿童， 疾病，目标是加快获得护理和干预。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，以加快转诊 疑似罕见病的儿科患者。如果在主要合作伙伴处成功建模， 研究中心（UG 3阶段），该战略将在德克萨斯理工大学健康科学部实施 中心（TTUHSC）在埃尔帕索，沿着美国-墨西哥边境（UH 3阶段）。我们的最终目标是 德克萨斯州偏远地区儿科罕见疾病的遗传学评估 改善健康结果，并为有针对性的干预提供途径。

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.