2 The technology

Clinical need and practice

2.1 Neonatal bacterial infection is a significant cause of death and illness in newborn babies. NICE's guideline on neonatal infection recommends treating suspected early-onset infection in babies with benzylpenicillin with gentamicin and that this should be given as soon as possible and always within 1 hour of the decision to treat.

2.2 Babies with a genetic variant in the mitochondrial MT‑RNR1 gene (m.1555A>G) are at an increased risk of profound bilateral deafness caused by damage to the ear (ototoxicity) if they have treatment with the aminoglycoside family of antibiotics, which includes gentamicin.

2.3 Currently available laboratory testing for m.1555A>G cannot provide results quickly enough to inform antibiotic prescribing in babies with a suspected infection that needs to be treated within 1 hour.

The intervention

2.4 The Genedrive MT‑RNR1 ID Kit (Genedrive plc) is a qualitative in vitro molecular diagnostic test for detecting the MT‑RNR1 m.1555A>G variant. It is intended to be used by healthcare professionals in a near patient setting using a buccal (cheek) swab sample. The company says that the kit provides a result within about 26 minutes. This could help ensure that babies who have the m.1555A>G variant have alternative antibiotics and avoid irreversible, lifelong hearing loss caused by ototoxicity. The Genedrive MT‑RNR1 ID kit costs £100 (excluding VAT). The cost per test used in the economic model (incorporating additional cost components such as purchase of the Genedrive machine, printing costs, control tests, warranty and staff costs) was £130.08.

The comparator

2.5 The comparator is to not test to determine the baby's MT‑RNR1 m.1555 variant status before treatment with aminoglycosides.