What is genetic counselling?

Your child's audiology clinician may refer you to a clinical genetics service to:

• investigate the cause of your child's deafness through more specialised expertise and testing
• discuss the results of any genetic testing your child has had.

Genetic counselling is the name for the whole process of what happens while you’re in contact with this service.

Clinical genetics services have a team of:

• clinical geneticists, who are specialist genetics doctors
• genetic counsellors, who are clinicians with training in genetics and counselling, but are not medical doctors.

The doctors and counsellors have many similar roles that overlap. The doctors are more involved in diagnosing and managing medical aspects of a genetic condition. The genetic counsellors are more involved in supporting families to make decisions. They will provide information in a clear way so that you feel well-informed about what this means for your family.

Genetic counselling after a genetic diagnosis has been made

Genetics can be a complicated topic. Finding out the results of genetic testing can sometimes be difficult or upsetting for families. If you’re referred to a clinical genetics service, the doctor or genetic counsellor can discuss the results with you. They will do this in a sensitive and supportive way, going into as much or as little detail as you want.

Genetic counselling appointments are usually longer than standard medical appointments. This means you’ll have plenty of time to discuss all the information and ask any questions you have.

After your appointment, the clinic will send you a letter summarising what was discussed. With your permission, they can send a copy of this letter to the other professionals looking after your child. A copy can also be sent to your GP so that your child has it on their medical record.

Genetic counselling to try and find a cause for your child’s deafness

If your child is referred to further investigate the cause of their deafness, you're more likely to see a clinical geneticist (doctor). In some cases, you may see a genetic counsellor as well or instead.

The genetics clinician will usually gather further information about your child and family’s medical history. They will also discuss any existing results and further investigation or testing options with you.

• Family history. Before or at the appointment, the clinician will ask you about your family’s medical history. It can be helpful to have medical details about your family members ready for your appointment, particularly if any of them have deafness or similar signs to your child. You may also bring along family members, if you wish, who may know more about your family history. The clinic may ask you to pass on a consent form to a relative to give permission to access their records. However, the clinic will not contact any relatives directly nor access any medical records without permission.
• Medical examination. The clinician may carry out a medical examination for your child. They will look for indications that your child’s deafness is part of a pattern of signs and symptoms (a syndromic cause).

At the end of the appointment, the doctor or genetic counsellor will make a plan with you for gathering further information, conducting testing, or making another appointment if needed. After the appointment, they’ll send you a letter with details of what was discussed. If anything is unclear, you should contact the clinic again.

Genetic counselling to offer a predictive or carrier genetic test

If a genetic diagnosis has been made in the family, then other family members may want to be seen by the clinical genetics service to discuss a genetic test for themselves.

• If this is for a condition where another family member might develop the condition in the future, this is known as a 'predictive genetic test'.
• If this is for a condition where another family member might carry a changed gene that they could pass on to a child, but they’re unlikely to be affected themselves, this is known as a 'carrier test'.

The genetics clinician can explain whether genetic testing may be relevant for other family members and how they can ask for a referral, if they wish.

Further information about genetic counselling

Genetic files are kept for longer than most medical records, so you can get in touch with the department in the future if your situation changes or if your child wants to ask questions when they’re older.

Further information about genetic counselling can be found on the British Society for Genetic Medicine website.