Genetic counselling

Genetic counselling is when you talk with a trained genetic counsellor about genetic conditions (Opens in new tab). Genetic counselling can help you:

• understand more about a genetic condition and what causes it
• understand the chance of you or your family member having a genetic condition (Opens in new tab)
• work out if you should have genetic testing

What are genetic conditions?

Genetic conditions are caused by changes in your genes. Your genes are made up of DNA, and you get one copy of a gene from each parent.

Some genetic conditions can be inherited (passed down) from one or both parents. Genetic conditions can also be caused by changes in the number of your chromosomes (the structures that carry your genes).

Some of the genetic or chromosomal conditions people may talk to a genetic counsellor about are:

• cri du chat syndrome (Opens in new tab)
• cystic fibrosis
• Down syndrome (trisomy 21)
• Edwards syndrome (trisomy 18) (Opens in new tab)
• fragile X syndrome
• haemophilia (Opens in new tab)
• muscular dystrophy (Opens in new tab)

Genetic counsellors are health professionals who are qualified in genetics and counselling (Opens in new tab). They have special skills in health communication.

A genetic counsellor can:

• talk you through genetic testing
• help you understand your test results and what they mean for you and your family
• give you information about how a genetic condition might affect you and your family
• give emotional and practical support if you have (or are at risk of) a genetic condition
• help you and your family adjust to living with a genetic condition and plan for the future

Genetic counsellors often work closely with clinical geneticists (doctors who specialise in treating genetic disorders).

What can I expect in a genetic counselling session?

Genetic counselling sessions usually involve:

• Talking about your family and any conditions that are common in your family (Opens in new tab).
• Learning about certain conditions and how they are passed down in families.
• Finding out what tests are available.
• Talking about how to manage and prevent conditions.
• Learning what support and resources are available.
• Organising genetic tests.
• Understanding test results.

There are many reasons to see a genetic counsellor.

Planning for pregnancy

If you are planning a pregnancy, you may want to see a genetic counsellor if:

• you have a genetic condition
• a genetic condition runs in your family 
• you want to understand the chance of your baby having a genetic condition

During pregnancy

There are screening tests that you can do during pregnancy. These tests are called prenatal screening tests, or genetic screening. They can tell your doctor if your baby might have a higher chance of certain genetic or chromosomal conditions.

If prenatal screening tests show your baby has an increased risk or a genetic condition, your doctor may recommend you:

• see a genetic counsellor to discuss your options
• have further tests to diagnose or help exclude a condition

Genetic counselling can help you decide if you want to have further tests.

Diagnostic tests that can confirm if your baby has certain genetic conditions include:

• amniocentesis
• chorionic villus sampling (CVS)

A genetic counsellor can also support you if a genetic condition is diagnosed during pregnancy.

Caring for your child

Your doctor may recommend you see a genetic counsellor if your child has symptoms of a genetic disorder. 

They can provide information on testing, diagnosis and support. You might also want to know about the chance any future children you may have could also have the condition.

Genetic carrier screening tests find out your chance of passing a genetic condition on to your children. This can also be done before you try to get pregnant.

Genetic testing (Opens in new tab) can be done to diagnose some genetic conditions. There are several different types of genetic tests.

Testing can be done:

• if you have symptoms of a genetic condition
• if you have a family history of a genetic condition
• during pregnancy, to check your baby for certain conditions (if they are at increased risk)

Genetic counsellors work in many hospitals and health clinics in Australia. Speak to your doctor and they can refer you for genetic counselling.

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

The Centre for Genetics Education has a helpful factsheet about genetic counselling and how to prepare for your appointment (Opens in new tab).