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- Title
Clinical Pharmacogenomic MT‐RNR1 Screening for Aminoglycoside‐Induced Ototoxicity and the Post‐Test Counseling Conundrum.
- Authors
Rigobello, Robert; Shaw, Jay; Ilg, Daniel; Zimmerman, Rebekah; Edelmann, Lisa; Kornreich, Ruth; Scott, Stuart A.; Cody, Neal
- Abstract
Aminoglycoside antibiotic exposure can result in ototoxicity and irreversible hearing loss among individuals that harbor the m.1555A>G variant in the mitochondrial 12S rRNA gene, MT‐RNR1. Importantly, pre‐emptive m.1555A>G screening has been shown to reduce the prevalence of pediatric aminoglycoside‐induced ototoxicity; however, professional guidelines to support and guide post‐test pharmacogenomic counseling in this context are not currently available. This Perspective highlights key issues with delivering MT‐RNR1 results, including longitudinal familial care considerations and communicating m.1555A>G heteroplasmy.
- Subjects
OTOTOXICITY; MEDICAL screening; COUNSELING; HEARING disorders
- Publication
Clinical Pharmacology & Therapeutics, 2023, Vol 114, Issue 2, p262
- ISSN
0009-9236
- Publication type
Article
- DOI
10.1002/cpt.2910