The simple genetic test for newborns that can prevent profound deafness and save the NHS millions every year
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.
Hearing has a profound effect on a child’s development because the infant brain is wired to make sense of sounds and speech to learn language. The ability to speak affects how infants build up the way they think.
A 2021 study published by the Journal of Neurology found that hearing loss is associated with lower baseline levels of cognitive function and decreased performance on memory tests over time.
Martin McLean, senior policy adviser for the National Deaf Children’s Society, who is profoundly deaf himself, says children born deaf can still be happy and successful, but they need the support of appropriate teachers and technological aids as soon as possible after birth.
He says: “We support any research into medical interventions to prevent deafness from happening and to reduce the impact of deafness.”
“We are so very grateful,” says Mary, a first-year student nurse at Royal Preston Hospital. “We were told after the test had been done that Khobi had been picked up by it.”
Khobi was born premature with a condition called gastroschisis, which meant she had to spend the first seven weeks of her life in St Mary’s Hospital.
Bill Newman, professor of Translational Genomic Medicine at the University of Manchester and a consultant at Manchester University NHS Foundation Trust, who is leading the trial, hopes it will lead to early detection of more common conditions.
“Successful implementation of the gentamicin test will be a first in the integration of a rapid decision making, genetic-based diagnostic in the UK NHS. It opens the door to getting much better outcomes for a number of other diseases too, now that the test is out there.”
His Genedrive trial was considered so important that it was allowed to continue during the pandemic when many other research trials were halted. His team is already working with genedrive plc on a similar rapid bedside test for stroke patients – to detect the one in 10 patients whose DNA makes them unable to metabolise clopidogrel the common anti-platelet medication, and therefore have significantly worse outcomes.
Models suggest a similar test could prevent thousands of the 100,000 strokes suffered by people each year in the UK.
The Genedrive® test that’s being traialed on newborns costs around £80 per baby at the moment and was developed by the Manchester-based medical equipment company genedrive plc, in collaboration with Newman’s team. The research received £900,000 in funding from The National Institute for Health Research (NIHR) and support from the charity Royal National institute for Deaf People (RNID). It builds on work undertaken through the NIHR Manchester Biomedical Research Centre. Earlier pilots included Liverpool Women’s Hospital.
It is a test that has changed Khobi’s life, and her family’s. “Khobi is cheeky and she has just started to talk,” says her mother. “I would not have that if she had not had the test.”