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Genetics and deafness

If you’ve just found out your child is deaf, you may be feeling shocked, especially if there’s no history of deafness in your family. You may want to know why your child is deaf. For many children, a single clear cause is not immediately obvious.

There are a series of investigations that can look for both genetic and non-genetic causes of your child’s deafness. These are called ‘aetiological investigations’ and may involve a mixture of blood tests, scans and other tests. Your child’s doctor or other health professional (such as an audiologist or genetic counsellor) can consider and discuss these with you. You can also find out more about these investigations in Chapter 8 of our resource, ‘Understanding your child’s hearing tests’.

In the past, genetic testing was a much smaller part of these investigations as only one gene (called Connexin 26 or GJB2) could be tested routinely. Since 2021, it has become possible to routinely offer testing for many more genes. Families can now discuss these tests with their paediatrician or audiology specialist, rather than needing to be referred to a specialist clinical genetics service.

Different families will have their own feelings about genetics and genetic testing, and no two genetic testing journeys are the same. Some families find it useful to know the cause of their child’s deafness, particularly if it’s linked to other health conditions so these can be monitored. For other families, the genetic testing journey can be difficult or upsetting. Some undergo genetic testing only to be told that current tests couldn’t identify a cause of their child’s deafness. Others might find out information about their family health situation that could not be predicted in advance.

We’ve included more information about genetics in these pages to help answer some of your questions. For most people, it will be necessary to have further discussion with your child’s specialists to understand how this information relates to your family’s own situation. If you’d like more support or can’t find the information you’re looking for, please contact our Helpline for free independent advice, or make an appointment with your child’s doctor.