How to Get Genetic Testing Now

How to Get Genetic Testing Now

Reproductive Genetic Carrier Screening

You can find out if you are a carrier of a recessive genetic disorder through a simple genetic test (the test is on you not on your baby). It is a simple blood or saliva test.

The test is best to get done before you get pregnant. That way it is easier to make decisions around how to conceive if you come up as being an at risk couple. However, it can also be done in early pregnancy, the first trimester. This is good because I believe around 50% of pregnancies in Australia are unplanned. 

In my opinion it is the most important test to do when preparing to have a child. It allows you to make sure you are not passing on something to a child, something that could make the child’s life painful, unfair and,  in some circumstances, kill them. 

Even if you already have a child who is healthy it does not mean you might not still be a carrier and could pass on a genetic disorder to future children, given there is a one in four chance that a child is afflicted. Some people have had three healthy children before having one who is affected. 

There are a few genetic tests within Australia and hopefully more coming soon, including Mackenzie’s Mission

I will outline the steps in getting the easiest test but will also provide a list of the other tests I know about for people to look into:

Company: Victorian Clinical Genetic Services (VCGS)

Test name: Prepair

This test is $385 and tests for the ‘top’ three devastating genetic conditions being SMA, Cystic Fibrosis and Fragile X.  To make testing cheaper you can start with just testing the woman as Fragile X is only passed on by the biological mother. If she is a carrier for any of the three, then you would test the man. Although if the test is being done when you are already pregnant it is best (in my opinion) to test both parents at the same time. This allows you to have  time to look at your options if you are both carriers of the same disorder. The clinic is based in Victoria, Australia and is actually very easy to do (although most doctors don't know about it and may dismiss your request).

  1. Simply go to your doctor;

  2. Give them the name of the VCGS;

  3. Get your GP to fill out the referral form;

  4. You send VCGS your referral;

  5. They will send you a saliva kit in the mail;

  6. You send back your kit; and

  7. They will send the results to your GP.

Other Known Tests

The Family Prep Test by Counsyl

Preconception Genetic Screening by Virtus Diagnostics Preconception Genetic  Screen

Reproductive Carrier Screening by Sonics Genetics

Gene Access Carrier Screen by Australian Clinical Labs



These tests are not done routinely by GPs yet and you will need to ask for them for it.

I’ll be honest, in some cases you may need to be assertive with your GP, insisting that you want the test and refer them to the VCGS website. I have many examples of people approaching GPs for this test and are persuaded not to do it if you have no family history. Please persevere. Again I mean not offence to any GPs but we have had this happen to almost every friend who have tried to get the testing.  As I’ve said before, we did not have a family history either.

These tests are not currently covered by the Government. In a few years Mackenzie’s Mission pilot (if you don’t know what I am talking about here go to the page on my website called Mackenzie’s Mission) will finish and hopefully lead to a genetic test being available Australia wide for free for all who want it. In the meantime now we do have to pay but it is worth it.

We also need to raise awareness where we can because in the three years Mackenzie’s Mission takes to pilot approximately 600,000 babies will be born in Australia. Without us raising our voices and telling people about it those babies are exposed.

Medical Backing

The American College of Gynecology and Obstetricians last year releases a paper to the Government recommending genetic testing be offered to all potential parents

Australia has now followed suit:

The Royal Australian and New Zealand College of Obstetricians and Gynecologists have recently developed a standalone statement on carrier testing to provide medical professionals with more guidance.

“Information on carrier screening for the more common genetic conditions that affect children (e.g. cystic fibrosis, spinal muscular atrophy, fragile X syndrome) should be offered to all women planning a pregnancy or in the first trimester of pregnancy. Woman wanting more information about carrier screening should be given the opportunity to have a more detailed discussion about carrier screening with an informed clinician. The benefits and limitations of testing, and any associated costs should be discussed.”

Options if You are Carriers


If you come back as being carrier/s of a genetic disorder and are at risk of passing on a genetic disorder to your children there are options. The first things you will discuss with your doctor or genetic counselor is what the genetic disorder is, what the treatment options are and its severity. It may be a 'lesser' genetic condition which as a family you decide you can live with. In which case you may proceed to get pregnant naturally. 

If however it is a severe genetic disorder or you want to be reassured that your child has no genetic condition passed on to them you can look at IVF, which is what we are doing. In IVF they can test the embryos to check they don't have your genetic condition before they implant an embryo, this is called pre-implantation genetic diagnosis (PGD). 

If you are already pregnant when you find out, it will be your own personal decision with whether you proceed with the pregnancy or not. This will be your decision and yours alone! No one can tell you what to do and it will depend on a number of circumstances including genetic disorder, treatment options, life expectancy, culture, religion, finances etc.  A tough decision but better than no decision. 

This test gives you information. 

Mackenzie's 2nd Birthday

Mackenzie's 2nd Birthday

What is a Genetic Condition?

What is a Genetic Condition?