About clinical geneticists

Clinical geneticists are medical doctors with additional training and skills in the area of genetic conditions. Paediatric clinical geneticists also have a background in child health.

Clinical geneticists can:

• help you understand genetic conditions and how these conditions are passed on
• give you information about the chance of genetic conditions occurring in your family
• help to diagnose genetic conditions during pregnancy
• help you work out how to manage a genetic condition if you have one or your child has one.

If your child has or might have health or development concerns, health professionals like clinical geneticists are there to care for your child and help you understand your child’s condition and treatment. With the support and expertise of these professionals, you can help your child thrive.

Why you or your child might see a clinical geneticist

You might see a clinical geneticist if you think you have a genetic condition or you have a family history of a genetic condition.

Some people see a clinical geneticist before they try to get pregnant to find out the risk of passing on a genetic condition to their baby. Others might see a clinical geneticist because they’re worried their child might have a genetic condition, or they might have recently found out they have a genetic condition and want to know more.

There are many different types of genetic conditions, which can affect different aspects of health and development in children and adults. Genetic conditions can start as a new genetic change in one person or can run through several generations of a family.

A clinical geneticist can try to work out exactly what genetic conditions are in your family. A clinical geneticist can tell you about the conditions and the possible genetic reasons for them.

They can also talk with you about the chance that you might get these conditions or pass them on to your children.

You’re likely to see a clinical geneticist if you have one of the following genetic conditions in your family:

• cystic fibrosis
• Down syndrome
• fragile X syndrome
• haemochromatosis
• haemophilia
• Huntington's disease
• muscular dystrophy
• neural tube defects.

You might also see a clinical geneticist if people in your family have epilepsy, heart disease, hearing conditions, intellectual disability, visual conditions, short stature syndromes or certain types of cancer.

For children who are born with structural anomalies like cleft palate or a heart defect, or children with developmental concerns or disability, clinical geneticists can help to work out whether a genetic condition is the underlying cause.

A clinical geneticist might suggest genetic testing to help answer your questions.

Your GP is always a good place to start if you’re worried about your health or your child’s health. Your GP can help you decide about seeing a clinical geneticist and help you find someone who’s right for you or your child. To see a clinical geneticist, you’ll need a referral from your GP or another medical specialist.

Before going to a clinical geneticist

Before seeing a clinical geneticist, it’s a good idea to find out about things like the following:

• Why you’re going – talk with your GP (or the health professional who referred you) about why you need to see a clinical geneticist.
• Appointments – do you need to make the appointment, or will the GP make it for you? Does the appointment need to be in person, or can it be via telehealth?
• Waiting lists – how long before you can get an appointment to see the clinical geneticist?
• Is there anything you can do while you’re waiting for the appointment?
• Costs – how much will the appointment with the clinical geneticist cost? Check whether you can get money back from Medicare or private health insurance.
• Locations – find out where you have to go to see the clinical geneticist – for example, public hospital, private hospital or clinic.
• Preparation – what do you need to bring to the appointment? For example, should you bring your child’s test results or their child health and development book?

You can ask your GP these and any other questions before you go to the clinical geneticist. You could also ask the clinical geneticist’s clinic when you make your appointment. Writing down your questions can help you remember them.