Genetic carrier screening is a simple test that can provide important insights into your reproductive health, specifically your chance of having a baby with genetic condition.

What is Genetic Carrier Screening?

Genetic carrier screening is a test that identifies whether you carry specific genes linked to inherited conditions. It’s particularly useful when planning a pregnancy or undergoing fertility treatment as it helps assess the risk of passing genetic conditions to your child.

Genetic carrier screening is important because

• Many people are carriers without being aware of it
• It empowers you to make informed reproductive decisions
• If both partners are carriers, options like IVF with genetic testing may be considered

In Australia, the most commonly inherited conditions include:

• Cystic fibrosis (CF)
• Spinal muscular atrophy (SMA)
• Fragile X syndrome (FXS)

Should I have Genetic Carrier Screening?

If you’re planning a pregnancy or undergoing fertility treatment, genetic carrier screening is strongly recommended, even if you have no family history of genetic conditions.

Most people are unaware that they are carriers of a genetic condition. In fact, up to 1 in 20 people carry a gene change that can cause an inherited condition.

The ideal time to undertake this genetic testing is before pregnancy. This allows you and your fertility specialist to consider the results and explore options as part of your fertility treatment.

If you are using a donor, City Fertility strongly recommends all patients complete either expanded carrier screening that looks at hundreds of genes or genetic counselling to understand their selected donor’s carrier status. This can be organised through your treating fertility specialist once a donor has been selected.

With a Medicare rebate, this test is available to all Medicare card holders.

Genetic carrier screening is a simple and safe process that can be completed at home or in clinic.

Here’s how it typically works:

1. Sample collection
   A saliva test kit is used to collect a sample from one partner first – usually the partner providing the egg. This can be done at home with guidance.
2. Laboratory testing
   Your sample is sent to a specialist laboratory where your DNA is analysed for gene variants linked to serious inherited conditions, including cystic fibrosis, spinal muscular atrophy, and fragile X syndrome.
3. Results and follow-up
   • If no variants are detected, further testing is generally not required.
   • If you are identified as a carrier, your partner (or sperm/egg donor) may be tested to assess the chance of passing on the condition.
   • From there, your fertility specialist will review your results and, if both partners are identified as carriers, may recommend a consultation with a Genetic Health Professional to discuss your options and guide your next steps.

Most carriers are healthy and have no symptoms, which is why screening is recommended even if you have no known family history of genetic conditions.

What does the Genetic Carrier Screening Medicare Rebate include?

A Medicare rebate is available for reproductive genetic carrier screening, helping to make this important test more accessible and affordable for people planning a pregnancy or undergoing fertility treatment.

The rebate fully covers testing of three of the most commonly inherited conditions in Australia:

• Cystic fibrosis (CF)
• Spinal muscular atrophy (SMA)
• Fragile X syndrome (FXS)

If you choose to undergo expanded carrier screening for a wider range of conditions, this will involve an out-of-pocket cost not covered by Medicare.

To be eligible for the rebate, you must:

• Be planning a pregnancy or currently pregnant; and
• Not have previously had carrier screening testing

Your fertility specialist can help determine which type of screening is the most appropriate for you.

How to arrange a Genetic Screening Test

To get started, book an appointment with a City Fertility’s fertility specialist. They’ll help you decide which type of genetic screening is right for you, then arrange the test and guide you through the next steps.