Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Remote clinical genetics evaluation followed by trio genome sequencing, delivered by a virtual genomics program in health professional shortage areas.

In health professional shortage areas, including US border regions, diagnosis of hereditary hearing loss is delayed by limited access to genetic services, even though roughly 60% of congenital hearing loss has a genetic etiology. Project GIVE is an NIH-funded virtual genomics program that expands access to genome sequencing for children with undiagnosed multisystemic conditions along the Texas-Mexico border, in the Rio Grande Valley and the El Paso region. Children aged 0 to 18 with suspected rare disease were referred by regional healthcare professionals through a virtual portal, Consultagene, then underwent comprehensive remote clinical genetics evaluation and trio genome sequencing. Among 23 Hispanic or Latino children evaluated for hearing loss, 16, about 70%, received a molecular diagnosis, and 56% of those had changes to medical management.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Seventy percent diagnostic yield in 23 children must be read with the caution a small referred sample demands, but the result that matters here is not the yield: it is that a clinical genetics evaluation conducted entirely remotely, followed by trio genome sequencing, produces the same diagnoses as an in-person visit at an expert centre. In a region where access delay is the main obstacle, this delivery model is worth as much as a technical improvement. The absence of a comparison group and referral-based recruitment do, however, preclude inferring an expected population-level yield.

Analysis by Dr Thibaut Benquey