About clinical geneticists

Clinical geneticists are medical doctors with special training and skills in genetics, which is the study of genetic conditions. Clinical geneticists also often have a background in child health.

Clinical geneticists can:

• help you understand genetic conditions and how genetic conditions are passed on
• give you information about the risk of you or your child having a genetic condition
• help you work out how to manage a genetic condition if you have one
• support you and your family.

Depending on your situation, some clinical geneticists might work with you one on one. Others work in teams with genetic counsellors and social workers. If you’re pregnant, clinical geneticists often work with doctors with special skills in diagnosing genetic conditions during pregnancy.

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 might see a clinical geneticist

You might see a clinical geneticist if you think you have a genetic condition or if 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 risk of getting the conditions or passing 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
• muscular dystrophy
• Down syndrome
• Fragile X syndrome
• haemochromatosis
• haemophilia
• Huntington's disease
• neural tube defects.

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

For children who are born with structural problems like cleft palate or a heart defect, or children with developmental problems or short stature, 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. Your GP can help you decide about seeing a clinical geneticist and help you find someone who’s right for you. 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 some information about the following:

• Why you’re going to the clinical geneticist: 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?
• 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 with the clinical geneticist?
• Costs: how much will the appointment with the clinical geneticist cost? It might be expensive, so you could check whether you’re eligible for Medicare or private health insurance rebates or whether you can get some other kind of financial help.
• Locations: find out where you have to go to see the clinical geneticist – for example, a public or private hospital, or consulting rooms. You might have to travel further than you expect, depending on your needs.

You can ask your GP these and any other questions before you go to the clinical geneticist or ask the genetics clinic when you contact them to make an appointment.