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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.

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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.

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Prenatal Screening for Chromosomal and Genetic Conditions

Our genetic material, or DNA, is organised into 46 packages called chromosomes. Some people are born with too many or not enough chromosomes, which can affect their health and learning. Smaller changes in the DNA can also occur within a chromosome, resulting in a variety of genetic conditions.

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

Genomics explainer: genetic inheritance | Garvan Institute of Medical Research

Inheritance patterns describe how genetic variants are distributed in families. Understanding these patterns is crucial to predicting disease risk in family members of an affected individual.

Read more on Garvan Institute of Medical Research website

Genomics explainer: genotype and phenotype | Garvan Institute of Medical Research

A person’s genotype is their unique sequence of DNA. More specifically, this term is used to refer to the two forms a person has inherited from their mother and father, for a particular gene.

Read more on Garvan Institute of Medical Research 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 website

Screening for Down syndrome

Down syndrome is a common chromosomal disorder. Find out about the screening and diagnostic tests to detect the condition before your baby is born.

Read more on Pregnancy, Birth & Baby website

Genomics explainer: how DNA is passed between generations | Garvan Institute of Medical Research

Read more on Garvan Institute of Medical Research website


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.

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