Genetic testing and information

The science of genetics is advancing at pace. Families of deaf children now potentially have access to more information than ever before about the cause of their child’s deafness, particularly with the introduction of genome screening. There is also the possibility of new genetic treatments emerging in the future. 

With this in mind, we wanted to find out more about the information needs of families about genetics, genetic testing, and future technologies. We asked an external consultant to investigate. She surveyed nearly 500 families and carried out interviews and focus group with parents.  

The results were quite eye-opening. 65% families who responded said they had been offered genetic testing with 9 in 10 taking up the offer. However, more than half of families who took up the offer were unable to state what specific tests had been done.  

Whilst 70% of families stated they had talked to a professional after receiving the results, a considerable proportion (45%) felt they didn’t get enough information at this point. Often there was a lack of certainty about what the results meant and many parents were not prepared for being told that there was no clear cause for their child being deaf. 

“We were told he had no genetic conditions but I’m now realising I don’t know what they did and didn’t test for.” 

“They couldn’t clearly answer or tell me the cause.”  

It didn’t help that information is often provided at a stressful time when parents are still adapting to the news that they have a deaf child and can get confused between all the different professionals they have to meet: 

“There were just all these consultants and people in white coats telling us this is what will happen next, you need to see this person on this day. This was all new to us, so we just assumed it was all stuff we had to do. I honestly cannot tell you whether we were asked whether we wanted to go ahead with any of it, or whether we really understood what it was all about. I was in shock, we’d found it all, from the diagnosis, completely traumatic. I was out of my depth and all this information was flying in at me.” 

On future treatments for deafness that may be available in years to come, families expressed a desire to be informed. They understood that gene therapies were still in early stages of development but felt that information could be explained very factually so that they didn’t harbour ‘false hope’. We're conscious that treating deafness through gene therapy is a sensitive subject (and I write this blog as a proud deaf person with no interest in becoming hearing one day). However, we want to make sure families and young people have well-balanced and accurate info about what might be available in the future. We do not see it as our job to gatekeep what info families do or don’t have. 

We are now going to consider what information we can provide to parents before and after testing. There is a real gap in information that helps parents to understand what tests are available and what the advantages and disadvantages of testing may be. Additionally, a lack of information to aid understanding of what test results mean. It is not just parents that can benefit from information but deaf children and young people as well so we will explore what young people’s information could be produced too. 

Professionals working with deaf children have a role to play here too. This might be audiologists, genetic counsellors, and Teachers of the Deaf signposting to information that we produce and talking about deafness in a balanced way that supports families to make properly informed choices.