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specialist genetic advice australia wide

FAQ

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What is genetic counselling?

Genetic counselling helps individuals and families understand how genetic conditions may affect their health or the health of their children and relatives. It combines specialist genetic information with supportive counselling, helping you understand your options and make informed decisions that reflect your circumstances and values.

People who may benefit from genetic counselling include:

  • individuals or couples planning a pregnancy

  • people considering reproductive genetic carrier screening

  • pregnant women with a high-chance screening result or a fetal difference identified on ultrasound

  • children or adults who have, or may have, a genetic condition

  • people concerned about a personal or family history of cancer

  • relatives of someone with a known or suspected genetic condition

A clinical geneticist is a specialist medical doctor. Clinical geneticists can assess symptoms, perform a physical examination, make or clarify a diagnosis, request genetic testing and provide medical management advice.

A genetic counsellor is an allied health professional with specialist training in genetics and counselling. Genetic counsellors assess personal and family histories, explain inheritance and genetic testing, help people understand their results and provide support with the medical, emotional and family implications.

Clinical geneticists and genetic counsellors often work together. Whether you need an appointment with a genetic counsellor, a clinical geneticist or both will depend on the reason for your referral.

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Do I need a referral?

Whether you need a referral depends on the reason for your appointment and whether you will see a genetic counsellor or a clinical geneticist. Our reception team will advise you when you book.

A referral is generally not required for genetic counselling relating to:

  • preconception carrier screening
  • a known genetic diagnosis
  • a family history of a known genetic condition

A named referral will generally be required when you need assessment by a clinical geneticist, including for:

  • investigation of a possible genetic diagnosis
  • a fetal difference or other concern identified during pregnancy

Please contact our reception team if you are unsure. We can advise what is required before confirming your appointment.

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What will happen in my appointment?

You will meet with a genetic counsellor or clinical geneticist by telehealth. They will discuss the reason for your appointment and ask about your medical and family history. This information will help them assess your circumstances and provide advice tailored to your healthcare needs, values and goals.

If genetic testing may be helpful, your clinician will explain:

  • what the test looks for

  • what the possible results may mean

  • the limitations of the test

  • how the test is performed

  • any associated costs

  • approximately how long results may take

You will have the opportunity to ask questions, and there is no obligation to proceed with testing. A follow-up appointment may be recommended to explain your results and discuss any implications for your healthcare or family.

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Will I have a genetic test?

Not every consultation leads to genetic testing, and testing is always your choice.

If genetic testing may be helpful, your genetic counsellor or clinical geneticist will explain the recommended test, its potential benefits and limitations, and what the possible results could mean for you and your family. You can then decide whether you would like to proceed.

The type and cost of testing will depend on your circumstances. Some tests may be eligible for funding, while others require payment directly to the testing laboratory. Any costs will be discussed with you before testing is arranged.

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What will I need to provide before my appointment?

Before your appointment, we will ask you to complete a patient questionnaire and provide any relevant medical information, including:

  • specialist or clinic letters

  • imaging and pathology reports

  • previous genetic test results

  • information about genetic conditions or relevant health concerns in your family

  • pregnancy ultrasound reports and prenatal screening or testing results, if applicable

It is helpful to gather as much relevant family history as you can for yourself, your partner or your child. This may include information about parents, grandparents, siblings, children, aunts, uncles and cousins.

Do not worry if your family history is incomplete or some records are unavailable. Please provide whatever information you can.

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Payment Policy

Consultation fees vary depending on the type of appointment and the clinician you see. We will explain the applicable fee when you book.

You may be eligible for a Medicare rebate for some consultations. Our reception team can advise whether a referral is required and whether a rebate may apply to your appointment.

Payment is required in full at the time of your consultation. Please contact our reception team if you have any questions about fees, rebates or payment arrangements.