Genetic counselling

Genetic counselling is when you talk with a trained genetic counsellor about genetic conditions. Genetic counselling can help you:

• understand more about a genetic condition and what causes it
• understand the risk of you or your family member having a genetic condition
• work out whether to have genetic testing

What are genetic conditions?

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

Some genetic conditions may 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
• cystic fibrosis
• Down syndrome (trisomy 21)
• Edwards syndrome (trisomy 18)
• fragile X syndrome
• haemophilia
• muscular dystrophy

Genetic counsellors are health professionals who have qualifications in both genetics and counselling. 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 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.
• 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.
• Understanding test results.
• Giving advice on support services.

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
• there is a chance you have a genetic condition because it runs in your family
• you want to understand the likelihood of your baby having a genetic condition

During pregnancy

There are screening tests that are offered during pregnancy. These tests are called prenatal screening tests, or genetic screening in pregnancy tests. They can tell you whether your baby may be at increased risk of certain genetic or chromosomal conditions.

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

• see a genetic counsellor to discuss your options
• have further tests

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

• amniocentesis
• chorionic villus sampling (CVS)

Genetic counselling can help you make an informed decision about whether to have additional testing.

A genetic counsellor can also support you and give you information 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 signs of a genetic disorder.

This can provide you with information on testing and diagnosis, as well as support. You may also want information on the risks to potential future children.

Genetic testing 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 carrier screening tests are tests to find out your chance of passing a genetic condition on to your children.

Genetic counsellors are available in many hospitals and health clinics in 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.