A major advance in the diagnosis of inherited hearing loss has been made as a result of research funded by Action on Hearing Loss. A new genetic test has been piloted by scientists at the University of Antwerp that will ultimately make it possible to rapidly screen all known deafness genes to give a far more accurate diagnosis of the cause of a hearing loss.
The new test will help parents of a deaf child understand the chances of future siblings also being born deaf. Similar tests are also being developed at Great Ormond Street Hospital for Children, London and should be available to families by late 2013.
The findings, published today in the American Journal of Medical Genetics, show that by screening just 34 known deafness genes, an accurate diagnosis could be given in roughly half the cases. Ultimately, all known deafness genes could be screened for the same cost as it takes to test one or two genes today.
Professor Guy Van Camp, who led the project, said: “Using today’s technology only a few of the many deafness genes can be routinely tested, which means that an accurate diagnosis can typically only be given in 10-20% of cases. Our new test uses advanced DNA sequencing technology that can in principle screen all known deafness genes at the same time. It’s a major development from being able to test one or two genes today to being able to screen all known deafness genes in the future.”
Dr Ralph Holme, Action on Hearing Loss’s Head of Biomedical Research, said: “The majority of childhood deafness is inherited and knowing the gene responsible can be incredibly important for parents who want to know the likelihood of subsequent children inheriting deafness. Knowing the cause of a child’s deafness can also make it easier to predict how their hearing loss may change over time and help choose the most appropriate treatment or method of communication. This new test will also be very useful in providing a more accurate picture of the prevalence of different types of deafness affecting people across the UK.”
For information about how Action on Hearing Loss is funding biomedical research to develop treatments to improve the everyday lives of people with hearing loss, click here.
“A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing”, Isabelle Schrauwen et al.
American Journal of Medical Genetics published online: 3 DEC 2012, DOI: 10.1002/ajmg.a.35737
Source: Action on Hearing Loss