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• W4320492703 abstract "We read the viewpoint by May et al. with interest and were pleased to see a thorough consideration of whether genetic testing might be valuable in the Australian population to avoid aminoglycoside-induced hearing loss (AIHL).1 The Clinical Pharmacogenetics Implementation Consortium (CPIC) recently published guidance for the prescription of aminoglycosides based on the presence of variants in the mitochondrial RNR1 gene.2 CPIC agreed that there was sufficient evidence to classify three variants as conferring an increased risk of AIHL, m.1555A>G, m.1494C>T and m.1095T>C. As part of any CPIC guideline writing process, a database is produced summarising the frequency of variants in different biogeographical groups. May et al. cited this resource and produced a table to present the data, which they then discussed. However, we could not reconcile the allele frequencies in the paper with our own consideration of the published data. For example, CPIC record that the m.1555A>G variant has an allele frequency of 0.00142 (1 in 704) in the Near-Eastern population, but the authors state that the variant is exactly two times as frequent (1 in 352). This consistent error may have occurred as calculating allele frequency for nuclear variants, via the Hardy–Weinberg equation, can involve multiplying allele frequencies by 2. This is not the case for mitochondrial variants. The authors then consider the utility of a rapid point-of-care test which was recently implemented in practice. This assay can detect m.1555A>G in 26 min and was implemented without disrupting normal care.3 May et al. conclude that ‘the assay is unlikely to be of use in Australia in its current form because of the prevalence of other AIHL-associated variants in the communities’. Although we agree that an ideal test would include m.1494C>T and m.1095T>C, they have a low frequency. As such, though local health-economic analysis is essential, it is unlikely that inclusion or exclusion of these variants would meaningfully impact the base-case incremental cost-effectiveness ratio. Finally, the authors discuss alternative testing models including pre-emptive maternal testing or newborn whole-genome sequencing. Neither of these approaches are viable in the acute setting for a myriad of reasons, including cost, turnaround time and complexity. Issues discussed extensively in a response to the original study.4 It is entirely appropriate that any new technology is appraised by individual nations to ensure the needs of their population are met. It is equally important, however, that those assessments are based on accurate and contemporaneous data." @default.
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• W4320492703 date "2023-02-13" @default.
• W4320492703 modified "2023-09-26" @default.
• W4320492703 title "Letters to the Editor" @default.
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• W4320492703 doi "https://doi.org/10.1111/jpc.16376" @default.
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