Most recent guideline publication:
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for MT-RNR1 and Aminoglycosides (May 2021)
Updates since publication:
March 2023: This update to the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides in individuals with the MT-RNR1 genotype was precipitated following contact from primary care physicians and pediatricians. These clinicians had asked whether patients with the m.1555A>G variant should avoid vaccines where aminoglycosides are used in the manufacture process. This update will be accompanied by a peer-reviewed commentary, the link for which will be posted here once available. In the meantime, a summary of the recommendations can be found here.
Additionally, drug resource mappings and pre- and post-test alerts were added for dibekacin, neomycin, netilmicin, and ribostamycin. Recommendations for these medications were also added to the CPIC database (same recommendation as other aminoglycosides).
Tables provided in the main manuscript of the guideline:
Table 1. Assignment of predicted MT-RNR1 phenotype based on genotype |
Table 2. Recommended therapeutic use of aminoglycosides in relation to MT-RNR1 phenotype in children and adults |
Supplement to: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for MT-RNR1 and Aminoglycosides (May 2021)
Tables provided in the guideline publication supplement or referenced in the guidelinea:
Supplemental Table S1. Evidence linking MT-RNR1 genotype with Aminoglycoside-Induced Hearing Loss |
MT-RNR1 allele definition table |
MT-RNR1 allele functionality table |
MT-RNR1 frequency table |
Gene resource mapping |
Drug resource mapping |
Clinical decision support:b
Amikacin pre- and post-test alerts and flow charts Dibekacin pre- and post-test alerts and flow charts Gentamicin pre- and post-test alerts and flow charts Kanamycin pre- and post-test alerts and flow charts Neomycin pre- and post-test alerts and flow charts Netilmicin pre- and post-test alerts and flow charts Paromomycin pre- and post-test alerts and flow charts Plazomicin pre- and post-test alerts and flow charts Ribostamycin pre- and post-test alerts and flow charts |
aSome of the tables included in the guideline may have been updated on-line, particularly to reflect newly described or newly characterized alleles. These include the gene-specific information tables (https://www.pharmgkb.org/page/pgxGeneRef) that support CPIC guidelines by providing information regarding star (*) allele definitions, allele function, allele frequency by major ethnic groups, translations of diplotype to phenotype, and gene resource mappings.
bThese resources support the adoption of CPIC guidelines into the electronic health record with clinical decision support and provide information that clinical implementers find helpful.