Key messages

1. Newborn babies (neonates) with a specific MT-RNR1 gene variant (m.1555A>G) have an increased risk of permanent hearing loss after receiving aminoglycoside antibiotics such as gentamicin. The m.1555A>G variant is estimated to be present in 1 in 500 newborns.
2. In an implementation trial testing 424 neonates, point of care MT-RNR1 genotype testing had a sensitivity of 100% and specificity of 99.2%. There is some uncertainty about the sensitivity of the test because of the wide confidence interval around this estimate.
3. The time needed to test a neonate’s genotype and review the result is approximately 26 minutes. This means point of care testing can be carried out without delaying antibiotic treatment.
4. Hearing loss in neonates has a considerable impact on the quality of life of affected children and their families. It affects a child’s ability to communicate, their social and emotional development, and their opportunities in life. Children with hearing loss need to wear hearing aids or cochlear implants throughout their life. Wider societal costs and benefits, such as the impact on quality of life and educational attainment of the child, are beyond the scope of our analysis.
5. Using current cost estimates and a 3 year model, introducing Genedrive MT-RNR1 point of care genotype testing to neonatal intensive care units (NICUs) is estimated to have a net resource impact of £29,000 in NHSScotland. This is based on three fewer neonates experiencing aminoglycoside induced hearing loss. The net increase in the resource costs over 3 years is attributable to device acquisition costs in the first year. In subsequent years, the ongoing cost of testing is less than the value of resource savings associated with cochlear implants and managing hearing loss. Extending MT-RNR1 genotype testing to other neonatal care settings could potentially increase the number of babies prevented from experiencing aminoglycoside induced hearing loss.
6. While equally effective antibiotics are available to replace gentamicin when treating neonates with the m.1555A>G gene variant, the main alternative is associated with higher rates of antibiotic resistance.

Referred by 

The Accelerated National Innovation Adoption (ANIA) collaborative