1 Recommendations
1.1 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 who are being considered for treatment with aminoglycosides.
1.2 Healthcare professionals should tell parents about the possible implications of positive test results for their baby and their family at an appropriate time, and give support and information.
1.3 Positive results should be confirmed by laboratory testing.
1.4 The recommendation is conditional on further evidence being generated on:
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how the test affects time to antibiotics
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how the test result affects antibiotic prescribing decisions
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the technical performance and accuracy of the test.
See the evidence-generation plan for further information on the prioritised evidence gaps and outcomes, ongoing studies, potential real-world data sources, and how remaining evidence gaps can be resolved through the design of real-world evidence studies.
Potential benefits of early access
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Clinical: Evidence suggests that the Genedrive MT‑RNR1 ID Kit quickly and accurately identifies babies with the MT‑RNR1 m.1555A>G variant, who may be at risk of hearing loss if given aminoglycoside antibiotics. This will allow equally effective alternative antibiotics to be used instead.
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Unmet need: There is currently no test available in the NHS that gives results quickly enough to inform decisions on acute antibiotic prescribing.
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Resources: The long-term savings to the NHS associated with hearing loss and fitting cochlear implants could be substantial.
Managing the risk of early access
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Time to antibiotics: Evidence suggests that time to antibiotics is not affected by implementing the test, but the evidence was mostly generated in 1 large specialist neonatal intensive care unit. The test should be implemented in a treatment plan that aims to deliver antibiotics within 1 hour only if it does not cause a delay. Data on time to antibiotics should be collected in a range of centres and settings, including smaller non-specialist centres and outside neonatal intensive care units.
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Antibiotic resistance: The alternative antibiotics are associated with an increased risk of antibiotic resistance. The risk is likely to be small because the genetic variant is not common, so very few babies will be treated with the alternative antibiotics. The test should not be used to drive unnecessary use of alternative antibiotics associated with an increased risk of antibiotic resistance. Evidence should be generated on how the test result affects antibiotic prescribing decisions.
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Accuracy and technical performance: Evidence suggests the test has high accuracy, but there is uncertainty because the genetic variant is not common, so the study results are based on a small number of positive cases. The test was also updated during the study to reduce the failure rate; real-world data suggests the failure rate with the current version of the test is low. Further evidence should be collected to reduce this uncertainty. Because of the risk of false positive results, positive results should be confirmed by laboratory testing to make sure that only true positive results are added to people's medical records.
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Costs: The economic evidence suggests the test could be cost effective, but the upfront costs of buying the Genedrive system may be high. This guidance will be reviewed within 4 years and the recommendations may change. Take this into account when negotiating payment options and the length of contracts.
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Equality: The prevalence of the genetic variant differs between ethnic backgrounds. There are also other variants associated with a risk of hearing loss. Data should be generated in centres with babies from different ethnicities to promote equality. The test should also be implemented in a wide range of geographical regions to include patients from various socioeconomic groups to ensure equal access.