Genetic Counselling and Testing: A Guide to Understanding and Managing Genetic Conditions

Highlights

Genetic counselling can help you understand more about a genetic condition and what causes it.
Genetic counsellors are health professionals who have qualifications in both genetics and counselling.
Genetic counselling may involve talking about genetic testing.
It can also help you adjust to living with a genetic condition or plan for the future.

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.
Organizing genetic tests.
Understanding test results.
Giving advice on support services.

When to See a Genetic Counsellor

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 and Its Applications

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.

Finding a Genetic Counsellor

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

Tools and Assistance

Genetic Condition Education: Numerous online resources and educational tools are available to help individuals understand genetic conditions, their inheritance patterns, and potential treatments. Many organizations and health professionals provide brochures, videos, and other materials to educate families and individuals about genetic disorders, helping them make well-informed decisions regarding their health and family planning.

Genetic Counselling Services: Genetic counselling services provide guidance and emotional support for individuals and families considering genetic testing or living with genetic conditions. Healthcare professionals such as doctors, genetic counsellors, and clinical geneticists can help assess personal and family health history and offer advice on available testing options. These services help individuals understand the implications of genetic conditions and make informed decisions regarding their health and reproductive plans.

Genetic Testing: Genetic testing can help diagnose genetic conditions, including those that may be inherited. It can also assess whether a person is a carrier for certain genetic disorders. There are various types of genetic tests available, such as diagnostic testing, prenatal screening, and carrier screening, which can provide critical information about the health of an individual or their baby. A healthcare provider can assist in selecting the appropriate genetic test based on specific needs and circumstances.

Genetic Testing Kits: Home testing kits are available for some genetic conditions and carrier screening tests. These kits allow individuals to collect their own samples, such as saliva or cheek swabs, and send them to a laboratory for analysis. While these kits may provide preliminary information, it is important to follow up with a healthcare professional for a thorough interpretation of the results and further advice.

Support Services for Genetic Conditions: There are various support services available for individuals living with genetic conditions, including local and national support groups, online forums, and specialized counselling services. These resources offer emotional support, educational materials, and practical advice for managing genetic conditions. Connecting with others in similar situations can be an invaluable source of comfort and guidance.

Need more information?

Genetic carrier screeningScreening 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 NetworkIf your child is diagnosed with a disability or genetic condition, genetic counselling helps you learn how the condition might affect your child and family.Read more on raisingchildren.net.au website Prenatal Screening for Chromosomal and Genetic ConditionsOur 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 ChannelA 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 ResearchInheritance 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 ResearchA 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 NetworkIf 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 syndromeDown 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 ResearchRead more on Garvan Institute of Medical Research website AmniocentesisAmniocentesis 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

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