Virtual Platforms for Genetics Evaluation in the Medically Underserved

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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.