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What can genetics referral offer my family?


The genetic counselling service sees anyone who has questions about a condition in themselves, their child(ren) or other family members which they think may be inherited. Some people may want information simply to understand their own situation better. Sometimes information may influence decisions about management. For other people, they may want to know their own chance of either inheriting or passing on a condition.

Some conditions are caused by changes in the genes or instructions carried within our cells. These changes may or may not have been inherited from further back in the family. Clinical geneticists specialise in diagnosing these conditions, many of which are rare. Genetics professionals can give people information about these conditions in straightforward everyday language. They can explain how these conditions are inherited and how likely they are to happen in a family. If appropriate, they can also discuss the medical management and what choices members of the family have in facing this situation.

The aim of genetic counselling is to help people make well-informed decisions for the future. Many people assume that the genetics professionals will tell or advise them what to do. Instead, they concentrate on providing information and discussing options to help people make the best decisions for themselves. Genetic counselling is not the same as other counselling services: although the diagnosis and information is sometimes difficult or upsetting for families so the genetics professionals do aim to discuss this in a sensitive and supportive way, there is no pressure to discuss anything in more depth than the individual wishes. Genetic counselling usually has quite a different focus from other counselling services in that an important part of genetic counselling is giving people factual information and relating this to their own family situation.

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What about genetic counselling for deafness?

Many parents of a deaf child and many deaf adults are simply interested in more information about the cause of the deafness. Genetics professionals recognise that families vary greatly in how they feel about deafness and will be led by the family’s questions and concerns rather than make assumptions about how the family feel. Many parents, particularly those with no previous experience of deafness, find the diagnosis of deafness in their child extremely difficult. Some families with a history of deafness feel differently: they may see their deafness as a positive difference and identity and, especially if they use sign language, may feel that having a deaf child will pose no difficulties for communication within their family.

If it is possible to give information about the chance of future children being deaf or hearing then it can help people plan for the future, for example in planning their family or in planning education for their children.

Finding out more about the cause in the family may help with medical management decisions. For example, although most people with deafness have no other related medical problems, a proportion have a ‘syndromal’ cause (syndrome is a medical term meaning a collection of signs or symptoms that doctors recognise as being related and/or having a common cause). This means that follow-up checks may be needed long-term to monitor, for example, the kidneys or the heart. Individual syndromes are rare.

Another benefit of knowing the cause is that it may be able to predict whether someone’s hearing is likely to change or stay the same. Knowing the cause can give more information about which part of the ear is not working and this may help predict whether particular options e.g. a cochlear implant, are more or less likely to be of benefit.

Clinical genetics services aim to work in a multidisciplinary way by linking up with other services for people with deafness. This means that who first discusses possible causes for the deafness in your family and explains the tests that can be offered may vary from state to state. There are a number of tests which may be carried out to find the cause of your child’s hearing loss. Sometimes your doctor may arrange all these tests before referring you to the genetics service and sometimes families are referred before any or most tests are done. If you are not referred to the genetics service, you can ask your doctor to do this. If they do not think this will give you helpful information in your family’s specific situation, they can explain why.

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What happens when I am referred to a clinical genetics service?

You will see a genetic counsellor and/or clinical geneticist at the genetics clinic. If you need an interpreter, please let the clinic know when you make your appointment. Before you attend your genetic counselling session, find out as much as you can about your family’s medical history.

What family details are helpful?
For as many close relatives as possible and for any other people in your family with the condition, it is helpful to know:

  • the diagnosis they were given
  • when and where they were diagnosed, followed up or treated

And if appropriate:

  • their full name
  • their date of birth
  • their address

Genetics departments will not ask for any medical records for any relative without permission. They will also not contact any of your relatives unless you specifically asked them to do so.

What happens when I come to the clinic?

Your partner or another relative or friend is welcome to come with you – genetics clinics often see several family members together, but it would be worth discussing this in advance as different family members may have different concerns and often a further separate appointment can easily be made.

The genetics professionals will discuss your concerns with you. If appropriate, the doctor may want to examine the person/ people with deafness. Sometimes it is necessary for the professionals to gather more information and/or arrange tests before the full picture can be discussed with you.

If a definite or likely genetic cause to the deafness is identified in the family, the genetics professionals will try and help you understand the facts in everyday, common sense terms. They are particularly experienced in explaining complicated genetic tests in an understandable way.

Genetic counselling appointments are often longer than most medical appointments. This is to allow plenty of time to discuss all the information and all your questions so they should not feel rushed. However, if you are unable to come, it is therefore very important that you let the department know as soon as possible so the appointment can be given to someone else.

Afterwards, you may be offered a follow-up appointment. You will also be sent a letter to summarise what has been discussed. If you agree, the genetics professional will send a copy of this to your GP and any other specialists who are looking after your family. Genetic files are kept for many years, longer than for most medical specialties, so you can choose to recontact the department years in the future if your situation changes or if, for example, your children are grown up and want to ask questions in their own right. Sometimes it may be suggested that a family member or members have infrequent but regular follow-up appointments to keep a check on, for example, other features associated with the deafness if a syndromal cause has been identified.


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Information provided bythe National Deaf Children's Society. Reproduced with permission.

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08-Dec-2015 5:30 AM (AEST)