A new rapid bedside test to detect genetic susceptibility to gentamicin-related ototoxicity is being introduced at neonatal units in Manchester and Liverpool.
The point-of-care test (POCT), developed in conjunction with the Manchester Centre for Genomic Medicine, can detect the mitochondrial m.1555A>G variant within just 40 minutes, compared with current laboratory-based testing which can take up to 3 days.
Presenting data on the test at the European Human Genetics Conference 2018 in Italy last weekend, Dr. John McDermott, from the Manchester Centre for Genomic Medicine, said: “In the absence of a point of care testing approach we are reliant on core hospital testing facilities, which can take up to three days to provide a result. This is inadequate, considering that life-saving antibiotics need to be given in the first hour of admission. Our test, developed together with Genedrive plc, uses a cheek swab and can allow tailored prescribing.”
The POCT platform uses asymmetric PCR to amplify the target region of the DNA before identification of the genotype via melt-curve analysis. The assay is optimised using buccal cell samples from the inner cheek. Research to date suggests the test identifies the m.1555A>G genotype in less than 40 minutes, with sensitivity and specificity comparable to the validated laboratory methodology.
A feasibility study introducing the POCT into neonatal units is starting in summer 2018, representing the first pharmacogenetic assay for use in the acute setting. All children admitted to the study centres will be tested for the m.1555A>G mutation and antibiotics will be tailored accordingly.
The initial study will take place in 2 large neonatal units in Manchester and Liverpool, and will expand nationwide at a later date.
