Genetic Appointments
- Your GP or specialist may offer you (and your child) a genetic appointment if they suspect an underlying genetic cause for your child’s condition.
- Identifying a genetic cause may have implications for the health and management of your child and for their siblings or future children.
- A genetic appointment can help better understand the implications of a genetic diagnosis
- A genetic appointment may provide detailed information to help you decide whether or not you wish to proceed with genetic testing for your child.
Who will you see?
- You will be seen by a clinical geneticist and/or a genetic counsellor.
- A clinical geneticist is usually a children’s doctor (paediatrician) with special training in genetic conditions that affect children and their impact on family members.
- A genetic counsellor is an allied health professional with specific training and skills in counselling and genetics.
What’s involved?
- The genetic counsellor may contact you by telephone before your appointment to discuss your family’s medical history and to gather family history.
- At the appointment, your family history will be discussed and your child’s history will be gathered.
- A full examination will be undertaken.
- With permission, photographs may be taken and the doctor may wish to arrange other tests after discussion with you.
- The appointment lasts about 1 hour and usually takes place in a public Outpatient Clinic.
Topics of discussion
The genetic counsellor will likely discuss with you some of the following:
- the options for different types of testing
- the limitations and timeframe
- Which sample is most appropriate (e.g. blood, skin, saliva)
- How long will the testing take (e.g. 1 week, 3 months, 6 months)
- Organisation of sample collection
- Possible outcomes of testing (e.g. a diagnosis, no answer, a complex result)
- Consent.
Access to private services
There are private clinical geneticists and genetic counselling services in NSW and the rest of Australia. Services are evolving, but at the time of writing, some services include (but not limited to):
- New South Wales
- Victoria
- Queensland
- Western Australia
Other private genetic counselling services are available but provide specialist services such as prenatal (pregnancy)/reproductive or cancer testing only.