Reproductive Carrier Screening

 

Eugene’s carrier test is an at-home genetic test to see if you or your partner carry a gene variant that could cause a serious genetic condition in your child.

All carrier screening panels include 3 common conditions, including Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X syndrome. While genetic conditions are individually rare, when combined, they can have a significant impact on the health outcomes of our children. In fact, larger panels include several hundred genetic conditions and find that approximately 2-3% (1 in 35) of couples have an increased risk of having a child with a serious genetic condition. Reproductive carrier screening includes autosomal recessive and x-linked genetic conditions and is not meant to diagnose a health condition in the person(s) being tested but to allow you to understand the chance of passing on an inherited condition to your children. For couples found to be at increased risk, there is a 25% (1 in 4) chance of any pregnancy being affected by that specific condition.

It lets you consider different options, like:

• Using IVF to get pregnant
• Having diagnostic testing during pregnancy to understand if the baby is affected.

What does being a carrier mean?

We all carry variations in our genes. These variants can affect how our bodies grow, develop, and function.

Being a carrier is entirely normal. Most people carry 2-5 recessive genetic variations in their DNA. These can be influenced by our ethnic background. However, we usually don’t know about them as they do not impact our health and are not normally picked up by other routine checkups.

Some variants can affect our children. If both partners are carriers of the same genetic condition, there is an increased chance (25%) that it can cause a serious genetic condition in their child.

If you are a healthy carrier of a genetic condition, this means that:

• You don’t have the health condition yourself.
• There is a 50% chance that you can pass on your copy of the gene to any children you have.

If you and your reproductive partner are both carriers for the same condition:

• There’s a 1 in 4 chance (25%) that your children would be affected by this condition.
• Every child you have will have a 2 in 3 chance of being a carrier.

Carrier testing helps you understand these risks — if any.

 

Are there different types of carrier tests?

Yes. At Eugene, there are three screening options available:

1. Core carrier screening — screens for 3 genes: cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS).
2. Couples carrier screening— screens for +620 genes.
3. Comprehensive carrier screening — screens for +780 genes.

Research shows that 1 in 20 people in Australia carry the gene for:

• Cystic fibrosis
• Spinal muscular atrophy
• Fragile X syndrome
• Research also shows that approximately 80% of individuals will be a carrier of at least one condition when screened for 780+ genes.
  It is estimated that 20% of couples with an increased chance of having a child with an inherited genetic condition will be picked up with the Core carrier screening test and that greater than 90% of couples will be picked up by a carrier screening panel that includes 780+ genes.

Who should have carrier status screening?

Honestly, it’s for everyone who wants to have a family one day. Australian medical guidelines recommend that the following people consider carrier screening:

• People planning a family.
• People in their first trimester of pregnancy.

It’s important to know that carrier screening is a choice. It doesn’t mean you have to have the test, but it is an option you can discuss with your doctor.

Here are some things to consider:

1. Family history isn’t everything. Most children born with an inherited genetic condition never had a family history. This often feels completely ‘out of the blue’ for the parents.
2. Genetic conditions don’t discriminate. Our tests include serious conditions more frequent in different ethnic communities and are often excluded from industry-standard tests.
3. Individually rare, collectively common. When combined, the average risk of having a child with one of these conditions is higher than the risk of having a child with Down syndrome.
4. You can discover your chance of having a baby with a genetic condition. However, genetic carrier screening does not pick up every health condition. It doesn’t guarantee that you will have a healthy baby.

5. Genetic carrier screening does not replace other tests that can be done during pregnancy, such as:

• Non-invasive prenatal testing (NIPT)
• Combined first-trimester screening (CFTS)

Non-invasive prenatal testing and combined first-trimester screening are usually completed in the first 12 weeks of pregnancy.

6. Knowing your risk in advance can help you make more informed pregnancy choices and can significantly reduce your risk of passing on a condition.

 

How can I arrange genetic carrier screening?

Genetic carrier screening is now more accessible than ever. Everything at Eugene happens online so you can do it all from home. Decide which test is right for you here, and we’ll mail your kits within two business days. All other steps are accessible online via our member portal, and we'll also send you emails with instructions as you go.

Reproductive carrier screening can raise questions of ethics and choice that may require time to consider. If you are unsure, you can ask your doctor for more information.

How much does genetic carrier screening cost?

In Australia, genetic carrier screening can cost from $0 to more than $1,399 depending on the test you have.

Can I get a Medicare rebate?

Yes, as of 1st November 2023, Medicare will provide coverage for the Core Carrier Test only, designed to screen for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS). This test is available once in a lifetime and is billed directly through Medicare. A rebate of up to $400 will be available to offset the associated costs.

To qualify for the Medicare rebate, the following eligibility criteria must be met:

• Valid & current Medicare number.
• Chromosomally female (genetically female at birth).
• Pregnant or planning a pregnancy.
• Australian citizen or permanent resident.
• There is no previous benefit for this test.
• Our registered medical practitioners determine if the test is right for you.

The Couples carrier test also includes a bulk billed Core test. All other genetic tests available on eugenelabs.com are not eligible for a Medicare rebate.

 

What happens after the screening?

Depending on the test you purchase, you will normally get your test results back in 3 to 9 weeks.

If a risk is found, you can look at other ways to get pregnant, such as IVF.

If you’re already pregnant, you can talk to your genetic counsellor about choices right for you. This might involve:

• More tests.
• Consider a referral to a specialist.
• Chorionic villus sampling (CVS).
• Amniocentesis.

How do I receive my results?

We will send you an SMS notification to let you know when your results are available, with a link to schedule a video chat call with your genetic counsellor. During this call, we discuss results, what they mean, how they may be used to inform your future health care, and how you can share these results.

Once you have had your call, we will email a copy of your reports, which you can access whenever it feels right. We can also send a copy to any doctors who might need to know your results.

We know that your genetic results are also important to share with blood relatives, so we help you create a de-identified risk report email template that you can share with your family.

 

My test result was ‘positive’.

You will likely have many questions about what this means for you when planning a baby. About 1 in 40 people who chose to do an expanded reproductive carrier screening find out that they have an increased likelihood of having a child with a genetic condition. In this case, there would be a 25% chance that they could have a child affected by the condition. Having this knowledge before or early in pregnancy opens up your options.

For example, in pre-pregnancy, some couples may consider:

• Using IVF technology (preimplantation genetic testing) to reduce the chance of having a child impacted by a genetic condition.
• Conceive naturally and use the information from a carrier screening test to prepare for the baby’s birth.
• Having a test during pregnancy (CVS or amniocentesis) to see if the pregnancy is impacted by a genetic condition and make informed pregnancy choices.
• Using a donor egg, sperm, or embryo that does not carry the same genetic condition.
• Adopt or foster a child.

If you are already pregnant, there may be the option of testing a pregnancy to see if the baby has inherited the associated genetic condition.

Eugene’s experienced genetic counselors are here to provide the support you need to understand your results and explore the potential next steps.

 

My test result was ‘negative’.

It is important to understand that there are limitations in any genetic testing technology. No genetic test can translate and interpret all genetic information. A result where no variants are found does not eliminate the chance of a person carrying a variant that may have personal or reproductive implications. Instead, a ‘no variants found’ or ‘negative’ result means they have a reduced chance of carrying a variant in the tested genes. For example, in the case of an extended carrier screening result with no variants, it is still possible to have a child with a genetic condition. However, the risk is significantly reduced below the population risk statistics.

 

Do I need to have this test every time I have a baby?

No, you only need to have this test once in your lifetime. However, if you are a genetic carrier and have a new partner, they may need to be tested. In some cases you may like to consider retesting if the first test you took only included a small number of genes. 

 

Which test is right for me?

If you have any specific questions about our test, you can book a free chat with one of our friendly genetic counsellors at a time that suits you. We take the time to listen to your story, which will help us best support you and your needs while giving you access to the best technology on your terms.