School of Medicine Publications

Document Type

Article

Publication Date

8-26-2026

Abstract

Children in Health Professional Shortage Areas (HPSAs), including the US border regions, experience delays in the diagnosis of hereditary hearing loss (HL), driven primarily by limited access to specialized genetic services. Although approximately 60% of congenital HL has a genetic etiology, many affected children in these communities remain undiagnosed, delaying timely intervention. Project GIVE is an NIH-funded virtual genomics program that expands access to genome sequencing (GS) for children with undiagnosed multisystemic conditions along the Texas–Mexico border in the Rio Grande Valley (RGV) and El Paso regions of Texas, USA. Children (0–18 years) with suspected rare diseases were referred by regional healthcare professionals through a virtual portal, Consultagene, and underwent comprehensive virtual clinical genetics evaluation and trio GS. Among 23 Hispanic/Latino children evaluated for HL, 16 (~70%) received a molecular diagnosis. Of these, 56% had changes to medical management. Our findings demonstrate that high diagnostic yield for pediatric HL can be achieved in under-resourced populations when genomic testing barriers are addressed. As targeted therapies for hereditary HL emerge, broader implementation of comprehensive genetic testing in HPSAs is crucial to ensure timely medical interventions.

Comments

© 2026 The Author(s). Clinical Genetics published by John Wiley & Sons Ltd.

This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.

Creative Commons License

Creative Commons Attribution-NonCommercial 4.0 International License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License

Publication Title

Clinical Genetics

DOI

10.1111/cge.70224

Academic Level

faculty

Mentor/PI Department

Pediatrics

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