5 Implementation considerations
The following considerations around implementing the evidence generation process have been identified through working with system partners.
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Developers should provide training for staff in using the Genedrive MT-RNR1 ID Kit.
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Potential barriers to implementation include:
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the availability of research funds for data collection, analysis and reporting
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lack of expertise and staff to collect data
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differences in practice between large tertiary referral centres and smaller hospitals
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burden on clinical staff; the need to have a pre-study audit, collect data and do follow up; in small units this has a greater impact on staff time than in larger units.
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Because of the urgency of the setting, the test will be done without prospective consent. This may result in uncertainty about how much information to give parents or carers, and materials may need to be developed to help with this. Presumed consent was implemented in PALOH, and was acceptable to the Health Research Authority.
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There would be quality control costs. The technology developer recommends running a positive control and negative control every month or in line with local quality control policy.
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Some follow-up laboratory confirmation of positive tests could be done using the nationally commissioned R65 test if the commissioning criteria are met. This is usually organised through the local Genomic Medicine Service (after a referral) and a clinical geneticist or genetic counsellor can arrange confirmatory testing. They can also arrange cascade testing, that is, offering genetic testing to relatives of a baby who has the genetic mutation, although this is not currently commissioned.
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Follow-up laboratory testing for babies who have a negative Genedrive MT-RNR1 test result but develop hearing loss later would potentially provide more information on the false negative rate. But it would give a biased estimate of sensitivity. Also, true false negative results may not be known for many years. Collecting this information is not considered practical as part of data collection. In clinical practice there is routine follow up of any baby with hearing loss. Testing for the genetic variant m.1555A>G would be part of this assessment, and results could be checked against hospital records.
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There are feasibility concerns with recording ethnicity accurately. Ensuring that babies from diverse ethnic backgrounds are included would need ongoing monitoring to check this is being achieved.