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Regulatory · 04 of 05

New guideline: genotype before aminoglycosides to prevent avoidable deafness

A new guideline supports MT-RNR1 genotype testing before predictable aminoglycoside use — carriers (about 1 in 330) can lose their hearing irreversibly after a single dose, so test where you can and always ask about family history.

Today's regulatory highlight is not a drug approval but a pharmacogenomic guideline with direct otological consequences. Mitochondrial MT-RNR1 variants (m.1555A>G and others), carried by roughly 1 in 330 people, cause irreversible sensorineural hearing loss after aminoglycoside exposure — sometimes after a single dose, at ordinary therapeutic levels.

The UK guideline recommends avoiding aminoglycosides at any detectable variant. In England, laboratory MT-RNR1 testing is nationally commissioned, and point-of-care testing is used in some centres for time-critical settings such as neonatal sepsis; around 20% of aminoglycoside use is predictable enough to test pre-emptively. Crucially, where a result is not available and the clinical need is urgent, treatment should not be delayed.

For ENT this matters twice: as the specialty that sees the resulting deafness, and as advisers on aminoglycoside use, including topical drops in some contexts. Know whether your service can access testing, and flag a family history of aminoglycoside-associated hearing loss as a reason to test or avoid.

  • MT-RNR1 variants (~1 in 330) cause irreversible hearing loss after aminoglycosides, sometimes from one dose
  • Guideline: avoid aminoglycosides at any detectable variant
  • Testing is nationally commissioned in England; ~20% of use is predictable and testable
  • Do not delay urgent aminoglycoside treatment when a result is unavailable

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