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Genetic counselling

5-minute read

Genetic counsellors can review your family and medical history to help you learn about how certain conditions are inherited. They can give you information about genetic tests and provide advice on support services.

What is genetic counselling?

Genetic counselling involves talking about a genetic condition with a health professional who has qualifications in both genetics and counselling.

Genetic conditions are caused by changes or mistakes in genes. These conditions may be inherited (passed down) from one or both parents.

Genetic counselling can help you understand more about an inherited condition and what causes it.

A genetic counsellor can talk you through genetic testing. They can also help you and your family adjust to living with a genetic condition and plan for the future.

Some of the genetic conditions (sometimes referred to as ‘hereditary disorders’) people talk to a genetic counsellor about are:

Genetic counselling can also be helpful for some hereditary forms of conditions like cancer, diabetes and epilepsy.

What is genetic testing?

If you have symptoms or a family history of a genetic condition, your doctor may recommend genetic testing.

Genetic testing can diagnose a genetic condition.

Genetic testing can also tell you about the chance of passing a genetic condition on to your children. This type of testing is called reproductive genetic carrier screening.

Prenatal testing

Pregnancy checkups and scans, including prenatal screening and testing, are available to check the health of your baby during pregnancy. Sometimes the screening tests find an increased risk of a health problem. If the tests detect an increased risk of a chromosomal condition, such as Down syndrome, further testing may be recommended.

The tests may include:

How will I know if I need genetic counselling?

There are many reasons to see a genetic counsellor. You might consider genetic counselling for the following reasons.

  • If you have a genetic condition.
  • If there is a chance you have an genetic condition because it runs in your family.
  • If you have a family history of young-onset cancers like bowel, breast, or ovarian cancer.
  • If you have a child that is showing signs of a genetic disorder.
  • If you are planning a pregnancy and you want to understand the likelihood of your baby having an inherited condition.
  • If you are pregnant and have a prenatal test that shows an abnormality or risk of a health problem with your baby.
  • If you are thinking of having a child with a blood relative.

What can I expect in a genetic counselling session?

Genetic counselling sessions usually combine many different elements:

  • Talking about your family and any conditions that are common in your family.
  • Learning about specific conditions and how they are inherited.
  • Finding out what tests are available.
  • Talking about how to manage and prevent conditions.
  • Learning what support and resources exist.
  • Organising genetic tests.

Genetic counselling aims to increase your understanding of genetic conditions. These may be conditions that you have, or that run in your family.

How can I find a genetic counsellor?

Genetic counsellors are available in many hospitals and health clinics throughout Australia. The best way to find a genetic counsellor is to speak to your doctor. They can refer you for genetic counselling.

The Human Genetics Society of Australasia also has a Find a Genetic Counsellor service. It can help you find a registered counsellor in your area.

FIND A HEALTH SERVICE — The Service Finder can help you find doctors, pharmacies, hospitals and other health services.

Speak to a maternal child health nurse

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Last reviewed: June 2022


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Need more information?

Genetic carrier screening

Screening for carrier status is a blood test to see if you carry genes that are linked to certain health conditions. Learn more about this test here.

Read more on Pregnancy, Birth & Baby website

Genetic counselling: a guide for parents | Raising Children Network

If your child is diagnosed with a disability or genetic condition, your doctor might suggest genetic counselling. Read how genetic counselling can help you.

Read more on raisingchildren.net.au website

Genetic testing for inherited cancer - Better Health Channel

A predisposition to certain cancers can be inherited via altered genes.

Read more on Better Health Channel website

Prenatal Screening for Chromosomal and Genetic Conditions

Read more on RANZCOG - Royal Australian and New Zealand College of Obstetricians and Gynaecologists website

Genetic counsellor: family guide | Raising Children Network

If there’s a genetic condition in your family, a genetic counsellor can help you understand the condition and make informed decisions about managing it.

Read more on raisingchildren.net.au website

Screening for Down syndrome

Down syndrome is a chromosomal disorder that affects 1 in 1,00 babies. Find out about the screening and diagnostic tests that can detect the condition.

Read more on Pregnancy, Birth & Baby website

Amniocentesis

Amniocentesis is a diagnostic test, done during pregnancy, to assess whether the baby has an abnormality or serious health condition. Find out what’s involved.

Read more on Pregnancy, Birth & Baby website

Fragile X syndrome

People with Fragile X syndrome have intellectual disability, behavioural and learning challenges as well as certain physical characteristics.

Read more on Pregnancy, Birth & Baby website

Family history and cancer | Cancer Council

Find out how family history can impact your risk of cancer, including what you can expect from genetic testing and family cancer clinics

Read more on Cancer Council Australia website

Fragile X syndrome - Better Health Channel

The facts about fragile X syndrome are complicated, and parents and family members are invited to ask their doctor to refer them to a genetics clinic.

Read more on Better Health Channel website

Call us and speak to a Maternal Child Health Nurse for personal advice and guidance.

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