What is genetic counselling?

You may be referred to a clinical genetics service by your child’s audiology clinician. This may be for more specialised expertise and testing to investigate the causes of your child’s deafness. Or, you may be referred after you receive the results of genetic testing for a more detailed discussion on what the results mean. Genetic counselling is the name for the whole process of what may happen while you’re contact with this service.

Clinical genetics services have a team of clinical geneticists (specialist genetics doctors) and genetic counsellors (not medical doctors, but clinicians with training in genetics and counselling). The doctors and genetic counsellors overlap quite a lot in the aspects of genetic counselling they provide. The doctors are more involved in diagnosing and managing medical aspects of a genetic condition. The genetic counsellors are more involved in supporting families through decision-making and providing information in a clear way so that you can 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, and finding out the results of genetic testing can sometimes be difficult or upsetting for families. If you’re referred, the doctor or genetic counsellor can discuss this with you 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 might have.

After your appointment, you’ll be sent a letter to summarise what was discussed. With your permission, a copy of this letter can be sent to the other professionals looking after your child. A copy should 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 has been referred to further investigate the cause of their deafness, you may be more likely to see a clinical geneticist (doctor), though sometimes you will see a genetic counsellor as well or instead.

Although your audiology clinician may have gathered some of the following information already and sent it through with the referral, the genetics clinician will usually gather more background information about your child and your family’s medical history. They will also discuss any existing results and further investigation or testing options with you.

• Family history - Either 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 relatives ready for your appointment, particularly if any of them have deafness or similar signs to your child. You may also bring along other 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, they 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 to 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'.

After a genetic diagnosis is made, 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.