Point-of-care genetic testing to prevent hearing loss in new-borns
Neonatal sepsis is a systemic inflammatory response to infection and is a time dependent condition which places a significant demand on the Neonatal Intensive Care Units (NICU).
In the UK approximately 100,000 babies each year will require specialist neonatal care of which approximately 80-90% will be treated for suspected sepsis using aminoglycosides antibiotics.
Gentamicin is an aminoglycoside antibiotic that is routinely used to treat or protect against infection in babies admitted to NICU. National Institute for Health and Care Excellence (NICE)guidelines recommend this intervention occurs within one hour of arrival as the first line of treatment.
Some individuals have a gene variant that means they will suffer severe hearing loss or total deafness even after a single dose of gentamicin. Approximately 1 in 500 people have this genetic variant and the current available test takes at least three days for results and is therefore unsuitable in this acute scenario. Therefore, there was the need to identify a more immediate way of checking genetic susceptibility.
The Pharmacogenetics to Avoid Loss of Hearing (PALOH) study between Manchester University NHS Foundation Trust, The University of Manchester and Genedrive PLC developed and trialled a new point of care test for this genetic variant which gives a reliable result in under 30 minutes. The test involves a simple cheek swab and can be performed quickly at the bedside by the baby’s nursing team. If the genetic variant is identified through the test, an alternative antibiotic can be prescribed and avoid the risk of hearing loss. It is estimated that each year in the UK, 200 babies could be spared profound hearing loss as a result of this test.
This project aims to blueprint and rollout the point of care testing from St Mary’s Hospital to all Greater Manchester neonatal sites. There is also strong interest nationally to widen the adoption and spread of the test.