Personalized Medicine: Genetic Test Reveals Mutation That Causes Antibiotic-Induced Deafness - Bark Sedov

Personalized Medicine: Genetic Test Reveals Mutation That Causes Antibiotic-Induced Deafness

A genetic test gives results in half an hour to show if a person can go deaf in response to certain antibiotics, so they can be used for babies with suspected sepsis who need treatment quickly


March 31, 2022

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A newborn baby in a hospital bed

Shutterstock / Sopotniki

Occasionally, children become deaf as a result of antibiotic treatment. A rapid test has now been launched to identify those susceptible to such ear damage so that alternative antibiotics can be administered.

The genetic test provides a result in 26 minutes, meaning it can be done quickly enough to guide treatment for babies with suspected sepsis who need treatment as soon as possible.

About one in 500 people has a genetic mutation, which means the antibiotic gentamicin kills cells in their ear. This is believed to cause around 14,000 people worldwide to become permanently deaf each year.

Despite its rare effect, gentamicin is the recommended treatment for sepsis — a life-threatening immune system overreaction to infection — because it works against the bacteria most likely to be the cause.

People known to have the mutation can be treated with another antibiotic called a cephalosporin, which kills a broader spectrum of bacteria. Because of this, cephalosporins are more prone to inducing antibiotic resistance and are therefore less commonly prescribed.

Currently, to check for the genetic mutation, most hospitals use PCR-based tests, the results of which can take days. Guidelines for treating babies with suspected sepsis in hospitals in England say antibiotics should be started within an hour of doctors realizing treatment is needed.

The new assay, which Manchester University hospitals will routinely use from next week, is faster because it uses a different genetic testing technique called RT-LAMP.

The test, manufactured by the British company Genedrive, was used in two British hospitals on 751 babies who were a few days old and required treatment for suspected sepsis. It identified three with the mutation that put them at risk of deafness, all of whom received the alternative antibiotic, according to a recently published study. “We have three people who will go through life with intact hearing who would otherwise be deaf [test]says David Budd of Genedrive.

Genetic testing like this should be more widely available, according to a report released this week by the British Pharmacological Society and the Royal College of Physicians. It turns out there are 40 commonly used drugs that genetic testing could help treat.

In the future, babies could have a panel of such tests done right after birth, so they wouldn’t have to wait for the results, says co-author Emma Magavern at Queen Mary University of London. “It would have an impact [their treatment] for the rest of your life.”

Magazine reference: JAMA PediatricsDOI: 10.1001/jamapediatrics.2022.0187

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