World-First Bedside Genetic Test Identifies Susceptibility to Deafness in Newborn Babies

A new bedside machine takes just 25 minutes to identify whether a critically ill baby admitted to intensive care has a gene that could result in permanent hearing loss if they are treated with a common emergency antibiotic.

The world-first genetic test that could save the hearing of babies has been partly developed by The University of Manchester (Oxford Road, Manchester, UK) and successfully piloted in the NHS (England, UK). The new swab test technique would replace a test that traditionally took several days and could save the hearing of 180 babies in England alone every year. People admitted to intensive care are usually given an antibiotic called Gentamicin within 60 minutes. While Gentamicin is used to safely treat about 100,000 babies a year, one in 500 babies carry the gene that can make it cause permanent hearing loss.

The new test means that babies found to have the genetic variant can be given an alternative antibiotic within the ‘golden hour.’ The test is expected to save the NHS GBP 5 million every year by reducing the need for other interventions, such as cochlear implants. The idea for the test came five years ago, and trials started in 2020 with further adaptations and fine-tuning so that the current machine, which is called the Genedrive System, is now fully CE certified to be used in a clinical setting. The team had successfully transferred the accuracy of the machine in the lab to working effectively in a ward. At the same time, clinicians adapted quickly to incorporate the test into their routine care for very sick children in the neonatal ward. The test is now expected to be routinely used in all the hospitals’ neonatal units within weeks.

“The successful trial of this bedside test is fantastic news for the hundreds of babies - and their parents - who would otherwise lose their hearing when given this common antibiotic in intensive care situations,” said NHS national medical director Stephen Powis.

“The trial demonstrated that you can deploy rapid genetic testing in a clinical setting, and that the tests can be carried out within the ‘golden hour’ when severely unwell babies should be treated with antibiotics,” added Professor Bill Newman, a consultant in genomic medicine at Manchester University NHS Foundation Trust and Professor of Translational Genomic Medicine at the University of Manchester, who led the Pharmacogenetics to Avoid Loss of Hearing (PALoH) study.

“Genomic medicine is transforming healthcare, and this is a powerful example of how genetic testing can now be done extremely quickly and become a vital part of triage - not only in intensive care but across our services,” said Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics in the NHS. “It also shows the importance of thinking about how advances in technology can rapidly transform how we use genomics closer to care for our patients.”

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