Expanding Access to Genetic Evaluation Through Virtual Platforms

Pediatric rare genetic disorders frequently cause severe impairment and can be associated with life-threatening medical complications and/or chronic neurodevelopmental problems. About one-third of children with rare diseases die before they reach their fifth birthday. While genomic information is being integrated into clinical care at major academic institutions to improve health outcomes of children, rural and remote communities in Texas face significant barriers due to their distance from specialized medical centers. We propose to implement one of the first academic web-based virtual clinics called Consultagene to provide clinical evaluation of pediatric rare diseases through front-line clinics in the state of Texas. 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 in El Paso (UH3 phase). Our ultimate goal is to advance genetic evaluation of pediatric rare diseases in remote areas of Texas for improving health outcomes and providing avenues for targeted intervention.