Bedside Pharmacogenomic Test Prevents Deafness in Newborns by Detecting Genetic Risk for Abnormal Response to Common Antibiotic

Focus on precision medicine in Britain grows as new rapid point-of-care genetic test for preventing deafness in babies begins clinical use

Identifying genetic risk for abnormal reactions to pharmaceutical treatments in individuals or certain healthcare populations is a key element of precision medicine. And what healthcare population is more important for identifying genetic risk than newborn babies?

Toward that goal, a British genetic-testing start-up called Genedrive Plc. has developed a new pharmacogenomic test to prevent deafness in babies. The rapid point-of-care genotyping technology is designed for use at the point of care. The bedside test detects a rare genetic variant in the baby that can cause gentamicin, a commonly used antibiotic, to become toxic to inner structures of the ear.

The Genedrive System builds on a broader goal of the UK’s National Health Service (NHS) to routinely test for genetic variants prior to prescribing new medications. The technology platform proved its clinical viability during the recent Pharmacogenetics to Avoid Loss of Hearing (PALOH) trial study.

HS national medical director Stephen Powis, MD, PhD, quote on bedside pharmacogenomic test for babies at risk for losing their hearing.
“The successful trial of [the Genedrive] bedside test is fantastic news for the hundreds of babies … who would otherwise lose their hearing when given this common antibiotic in intensive care situations,” said NHS national medical director Stephen Powis, MD, PhD (above), in the NHS news release. “Through world-class innovation, the NHS is delivering cutting edge treatments to save and improve patients’ lives as well as delivering on the commitments of the NHS Long Term Plan.” (Photo: The Times)

Determining Genetic Risk in Minutes, Rather than Days

The genetic variant being tested for is only found in one in 500 newborns; however, it leads to permanent deafness in newborns who are given gentamicin, a common antibiotic used to treat about 100,000 babies each year.

While the genetic risk for deafness associated with gentamicin has been previously understood, testing for the specific gene using traditional medical laboratory methods takes too long to return results. To be effective, the antibiotic needs to be administered within hours of birth, making previously used genetic testing methods impractical.

A trial study published in JAMA Pediatrics, titled, Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care, highlights the benefits of the new Genedrive genetic test. This trial showed that accurate bedside results can be obtained in less than half an hour.

Clinical geneticist Bill Newman, PhD, a consultant in genomic medicine at Manchester University NHS Foundation Trust and Professor of Translational Genomic Medicine at the University of Manchester, led the PALOH trial study.

“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,” Newman explained in an NHS news release.

The Genedrive System is currently being implemented clinically at Saint Mary’s Hospital, Wythenshawe Hospital, and North Manchester General Hospital in England. The rapid genetic test is being integrated into routine use in the hospitals’ neonatal units. Funding for the test’s development came from the National Institute for Health Research (NIHR), and the cost to administer the test is expected to be £80 (US100.71) per test.

UK Increases Focus on Precision Medicine

The development of this new test comes at a time when Britain’s NHS is increasing its focus on the benefits of pharmacogenetic testing. A recent report, titled, “Personalized Prescribing: Using Pharmacogenomics to Improve Patient Outcomes,” developed jointly by the Royal College of Physicians and the British Pharmacological Society, called for more attention to the benefits that pharmacogenetic testing offers.

“The ultimate goal is to make pharmacogenomic-based prescribing a reality for all in the UK NHS,” the authors wrote in the report. “This will empower healthcare professionals to deliver better, more personalized care, and in turn improve outcomes for patients and reduce costs to the NHS.”

The authors of the report emphasized the global opportunities for pharmacogenetic testing. “Although we focus on the UK, many of the issues discussed in the report are also relevant to other global healthcare systems, and learning from each other will be important in optimizing medicines used around the world,” they wrote.

“A small number of pharmacogenomic tests are available in the NHS, but this needs to be expanded,” said clinical pharmacologist and geneticist Sir Munir Pirmohamed, PhD, in an NHS statement announcing release of the report. Pirmohamed is NHS Chair of Pharmacogenetics at University of Liverpool.

“Today we are calling on government and the health service to ensure that patients across the UK are offered these tests where there is evidence to show their utility,” he said. “For patients, this will mean the medicines they take are more likely to work and be safer.

“In the 21st century, we need to move away from the paradigm of ‘one drug and one dose fits all’ to a more personalized approach where patients are given the right drug at the right dose to improve the effectiveness and safety of medicines,” Pirmohamed concluded.

Making Medications Safer Through Personalization

New genetic tests will enable healthcare organizations to take another step toward safer medication prescribing.

“Genomic medicine is transforming healthcare, and [the Genedrive System] 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 Dame Sue Hill, PhD, England’s Chief Scientific Officer. “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.”

As new pharmacogenetic tests continue to be developed for use at the point of care, healthcare leaders should expect genetic testing to become a routine procedure prior to prescribing any medication. By leveraging the benefits of pharmacogenetic testing, clinicians can avoid preventable medication complications that harm patients. 

—Caleb Williams

Related Information:

Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care

NHS Develops World-First Bedside Genetic Test to Prevent Babies Going Deaf

Personalized Prescribing: Using Pharmacogenomics to Improve Patient Outcomes

New Report Finds Personalized Testing of Common Medicines Must Be Offered Throughout the NHS

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