The Genedrive® MT-RNR1 ID Kit is a qualitative in vitro diagnostic (IVD) molecular test for the detection of the single nucleotide polymorphism (SNP) m.1555A>G affecting the mitochondrial gene MT-RNR1 in human buccal cells.
Designed to be used in conjunction with the Genedrive® System it provides an automated result of an individual’s MT-RNR1 m.1555 variant status to inform the clinician ahead of antibiotic treatment decisions.
The Genedrive MT-RNR1 ID Kit is intended to be used by healthcare professionals within a near patient setting.
1:500 people have a maternally inherited mitochondrial gene variant (MT-RNR1 m.1555A>G) that when exposed to aminoglycoside antibiotics, are highly susceptible to moderate to profound, bilateral permanent hearing loss, regardless of dose or length of treatment.
Gentamicin (an aminoglycoside antibiotic) is the first line treatment for newborn babies who are suspected to be at risk of sepsis caused by bacteria. The guidelines for neonatal infection state that this treatment must be administered within one hour of the decision to treat (UK NICE guidelines 2021).
Whilst lab testing for the gene variant (MT-RNR1 m.1555A>G) is available, it is unable to provide the results within the critical one hour.
Patient: In the UK alone, approximately 90,000 babies are admitted to a NICU every year; because they have been born prematurely or because they are sick. This means that around 1 in 7 babies born in the UK are admitted to a neonatal unit each year; of which significant proportion require treatment with Aminoglycoside antibiotics (such as Gentamicin).
By implementing routine pharmacogenetic testing for the MT-RNR1 m.1555A>G gene variant, it can help prevent over of 200 babies per year (in the UK) avoid aminoglycoside induced hearing loss (AHIL), without disrupting normal standard of care.
Healthcare Professional: By empowering clinicians to test for the MT-RNR1 m.1555A>G enables them to make informed treatment decisions in time-critical setting. Optimising treatment outcomes and delivering personalised medicine.
Health and Social Care Providers: Could save NHS £13M/year (cochlear implants alone) and prevent up to 200 NICU AIHL cases per year (plus litigation resolution & lifetime disability savings).
Non-invasive sample collection by swabbing the patients inner cheek.
Submerge the buccal swab into the buffer solution to release the buccal cells
Allow the sample to draw up by capillary action from the buffer solution and transfer to the assay.
Ensure the assay is fully dissolved into the liquid by flicking the cartridge downwards.
Log onto the Genedrive System and insert the cartridge to start the test
The Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines recommend that carriers of MT-RNR1 gene variants that predispose patients to antibiotic induced hearing loss avoid aminoglycoside antibiotics.
Pharmacogenetics to Avoid Loss Of Hearing (PALOH) pragmatic prospective implementation trial showed that rapid, point-of-care genetic testing can be implemented in an acute neonatal setting to avoid antibiotic induced hearing loss, without disrupting normal standards of care. Three MT-RNR1 m.1555A>G positive participants avoided AIHL and no significant change in time to antibiotic prescription was found.
Following recommendation by NICE Early Value Assessment, the Genedrive® MT‑RNR1 ID Kit can be used while further evidence is generated as an option for detecting the genetic variant m.1555A>G to guide antibiotic (aminoglycoside) use and prevent hearing loss in newborns.
PALOH UK trial has now been launched to address evidence gaps for a potential full NICE recommendation.
The Genedrive® CYP2C19 ID Kit is included in the SHTG Assessment ‘Genetic testing to guide antibiotic use and prevent hearing loss in newborn babies’ which will be used to form an ANIA value case and will inform decision making on the roll out of MT-RNR1 genotype testing in NHS Scotland.
Interested in personalised antiplatelet treatment? Learn how our CYP2C19 pharmacogenetic test is being used to improve patient outcomes for stroke patients.
