Diagnosing and Preventing Hearing Loss in the Genomic Age.
John H McDermott, Leslie P Molina-Ramírez, Iain A Bruce and 14 others
PMID 31621509WHAT IT FOUND
For children with hearing loss, genetic testing can identify causes, guide counseling, and flag syndromic risks.
Rapid testing for a mitochondrial variant may help clinicians avoid aminoglycoside antibiotics in babies at risk of drug-induced deafness.
Key findings
01About 50% of neonatal deafness is attributed to a genetic variant, and a genetic result can guide family counseling and surveillance for nonhearing complications.
02The m.1555A>G variant has a reported prevalence of 0.2%, or about 1 in 500, and a U.K. Biobank analysis found 0.198% prevalence among 119,845 individuals.
03A point-of-care assay can identify the m.1555A>G variant from buccal swabs in about 22 min, and a trial is being designed to test its use in neonatal intensive care.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
This is a review, not a new trial, so it does not directly show that a testing pathway improves patient outcomes. The review states that genotype and phenotype are often inconsistent, so a genetic result may not fully predict severity, onset, or progression. The rapid point-of-care genetic test for aminoglycoside susceptibility is described as being tested for feasibility, not as proven to prevent hearing loss in routine care. Most genetic knowledge is based on people of White European descent, so variant panels may not fit all populations. The testing pathways and availability described are UK-focused, so local access may differ.
Declared interests
The article is listed as supported by NIH extramural and non-U.S. government research support. No author conflict-of-interest declaration is provided in the supplied text.
The easy way to misread this
Do not conclude that genetic testing or rapid point-of-care screening is already proven to prevent hearing loss in routine care. The review describes ongoing feasibility work and foreseeable future use, not completed evidence that these tests changed outcomes.