Genetic Testing

What is genetic testing?

Genetic testing can helped you and your family understand how you inherited Alport syndrome and take preventative action against the disease through pregnancy planning.

There are many variations found in our genes, but only some of them are important in an Alport syndrome diagnosis, those being COL4A3, COL4A4 and Col4A5. A laboratory checks those genes for the variations or mutations that have caused you to have Alport syndrome. Identifying the genetic mutation can help identify the type of inheritance as thus medical professionals and patients are aware of the likelihood certain symptoms of the disease will develop in the future.

There are three different types of inheritance. These will often determine the age onset of symptoms and their severity, although it is now known that patient experiences vary and that several factors, such as lifestyle and other inherited traits, may influence how and when symptoms will occur.

The testing is only the first part. The important part is understanding what the test results mean. Consultations with your doctor are important and a genetic counsellor may be recommended.

What are the benefits of getting tested?

Genetic testing in Australia can help people understand their health, plan pregnancies, and take preventative action against disease. Some types of genetic testing include:

Pregnancy screening tests

These tests are best done in the first 16 weeks of pregnancy and can indicate whether there is a risk of having a baby with birth defects. Diagnostic tests can provide more specific information about a fetus.

DNA Screen

Participants provide a saliva sample at home, and those who test positive are offered genetic counseling and risk-reducing steps.

Genetic testing can help people understand their health, plan pregnancies, and take preventative action against disease.

How do I access genetic testing in Australia?

To access genetic testing in Australia, you typically need a referral from a healthcare professional like a general practitioner or specialist to a public genetic service, where you can undergo testing based on your medical history and family background; access to publicly funded genetic testing is usually dependent on meeting specific criteria and may require pre- and post-test genetic counselling.

Key points about accessing genetic testing in Australia:

Referral needed:

Most genetic testing requires a referral from a doctor to a genetic clinic.
Medicare eligibility:

Certain genetic tests may be covered by Medicare if you meet specific criteria like a family history of a genetic disease or previous diagnosis of a related condition.
Genetic counselling:

Pre- and post-test genetic counselling is often recommended to discuss the implications of the test and understand the results.
Direct-to-consumer testing:

While some direct-to-consumer genetic testing options exist, it's usually recommended to consult a healthcare professional before pursuing this route.

How to access genetic testing:

Talk to your doctor:

Discuss your concerns and family history with your GP to see if genetic testing is appropriate for you.
Get a referral:

If your doctor determines genetic testing is necessary, they will provide you with a referral to a genetic clinic.
Attend a genetic clinic:

At the clinic, you will discuss your medical history, undergo testing, and receive results with the support of a genetic counsellor.

Find a participating clinics in Australia (ref: KIDGEN):

https://www.kidgen.org/patients/clinics

What does genetic testing involve?

In Australia, genetic testing involves collecting a biological sample, usually a blood or saliva sample, to analyse a person's DNA for potential genetic mutations that could indicate an increased risk of developing a specific disease or inherited condition; this is typically done through a medical professional, with interpretation and counselling provided to understand the results and their implications for health decisions.

Key points about genetic testing in Australia:

Sample collection:

Most commonly done through a blood draw, but saliva samples or buccal swabs (from the inside of the cheek) are also used depending on the test.
Medical consultation:

Genetic testing is usually initiated through a doctor or genetic counselor who can discuss the potential risks and benefits of testing, as well as interpret the results.
Types of genetic tests:
- Carrier screening: Tests to identify if a person carries a gene mutation that could lead to a genetic disease in their children.
- Prenatal testing: Genetic analysis during pregnancy to check for potential chromosomal abnormalities.
- Cancer risk testing: Analyzing genes associated with an increased risk of certain cancers, such as BRCA1 and BRCA2.
- Pharmacogenetics: Examining genes to predict how a person might respond to certain medications.
Direct-to-consumer testing:

While available, there are concerns about the interpretation and potential implications of direct-to-consumer genetic tests without medical guidance.

Consultation with your doctor is always recommended.

or visit the IVF Australia website for more information.

The terms PGD (Preimplantation Genetic Diagnosis) and PGT (Preimplantation Genetic Testing) refer to the genetic testing of embryos.