Khobi’s hearing was saved by Genedrive29 Mar 2022 12:30
https://inews.co.uk/news/health/simple-genetic-test-newborns-prevent-deafness-1543811
The instant that toddler Khobi Jerome hears the opening notes of any song from Frozen, she’s up on her feet ready to perform, pulling her mother up to join her. But Khobi would have been left profoundly deaf for life, had she not been given a world-first bedside genetic test minutes after she was born in Manchester.
Her mother Mary Kho-Ogden shakes her head in disbelief as she watches her 21-month-old daughter: “I can’t imagine Khobi without her hearing. She is so very ‘out there’ and babbles to everyone. She would be a completely different baby from the one she is now.”
The fact that Khobi can hear normally is because she was given a simple cheek swab test immediately after her birth, which 20 minutes later indicated that Khobi carries a genetic variant that meant she would go instantly and profoundly deaf if given the antibiotic gentamicin.
This is routinely given within an hour of birth to newborns in intensive care. So nurses substituted it for an equally effective alternative.
Khobi’s hearing was saved by Genedrive – the world’s first genetic bedside test to be used in an emergency setting – which was put through a real-life trial at St Mary’s Hospital, Manchester, part of Manchester University NHS Foundation Trust.
The test was done on 751 newborns in 2020, to see whether it was accurate and reliable when used outside a lab, and whether it could be carried out by non-medical staff.
The answer to both questions was a resounding, yes. The test is so simple it can be done easily alongside other screening procedures and accuracy is more than 95 per cent.
Around 90,000 newborn babies in the UK are treated with gentamicin, which guidelines from the National Institute for Health and Care Excellence say should be administered within the first hour.
Researchers have known for 25 years, through studies on people with cystic fibrosis, that the antibiotic could lead to deafness caused by a genetic variant which affects 1 in 500 people. Testing for it has until now taken days.
The plan is to roll out the trial to other Greater Manchester hospitals in the next couple of months and eventually across the NHS. More than 180 babies a year in the UK could be saved from deafness.
In addition to saving families from the emotional anguish, the success of the PALoH (Pharmacogenetics to Avoid Loss of Hearing) study will save the NHS an estimated £5m a year (including the cost of the test) in cochlear implantations and other hospital costs, according to health economists making up part of the team....
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