Clinical geneticist

Clinical geneticist

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About clinical geneticists

Clinical geneticists are medical doctors with special training and skills in genetics (the study of conditions caused by changes in genes). They often have a background in child health.

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

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.

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 about their own or their child's health and want a check up, 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 dystrophies
  • 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 such as cleft palate or a heart problem, or children with developmental problems or short stature, clinical geneticists can help try to determine 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 and whether there's anything you can do while you're waiting for an appointment.
  • Waiting lists: how long before you can get an appointment to see the clinical geneticist?
  • Making an appointment: it might take you more than one phone call to make an appointment.
  • 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, private health insurance or another rebate.
  • 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 might want to talk about these things and any other questions you have with your GP before you go to the clinical geneticist or ask the genetics clinic when you contact them to make an appointment.


  1. Melwas

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