10 questions to ask before doing a Reproductive Carrier Screening.

Thinking of doing a preconception carrier test? We've compiled the ten most frequently asked questions (and their answers) to help you with decision-making.

1. What is carrier screening?

Preconception carrier screening is a test to see if you or your partner carry a gene variant that could cause a serious genetic condition in your child. The common diseases usually screened for include Cystic Fibrosis, Spinal Muscular Atrophy, Thalassemia, and Tay-Sachs disease, but more than 500 genes are screened for in Eugene's Reproductive Carrier Screening.

Here are a few things everyone should know about carrier screening:

• Everyone carries gene variations: which can affect how our bodies grow, develop and function.
• Carrying these gene variations is completely normal: We’re all different and carry these genes; most times, we just don’t know about them.
• Some gene variations can affect our kids: If these variations are shared by both partners, it can cause a serious genetic condition in their child.
• It's about reducing risks, not eliminating risk: Preconception carrier screening is about reducing your risk as much as possible but not eliminating it completely — because, it's not even possible to do that.

2. Why should I do a preconception carrier screen?

If you’re trying to get pregnant or even just starting to think about it, you’re probably doing everything to increase your chances of having a healthy pregnancy and baby. Advances in genetic testing now mean testing is more accessible, and an increasing number of individuals and couples are choosing carrier screening as part of this preparation.

Why we think you should think about doing a preconception carrier screen:

• Family history isn't everything: Most children born with an inherited genetic disease never had a family history. This often feels completely 'out of the blue' for the parents.
• Genetics diseases don't discriminate: Our test includes many serious diseases that are more frequent in different ethnic communities and are often excluded in industry-standard tests.
• The conditions screened for are individually rare but collectively common: When combined, the average risk of having a child with one of these diseases is higher than the risk of having a child with Down syndrome.

3. When should I do the test?

Ideally, carrier screening should be done before or early in pregnancy. That's because knowing of any risks in advance can help you make more informed pregnancy choices, and can significantly reduce your risk of passing on the disease if necessary.

4. What will the test tell me?

Eugene's carrier screening is an ethical test that only includes serious and actionable diseases. Test results will let you know if you are unknowingly at risk of passing a genetic condition on to your child. All conditions tested for are serious and actionable. This information can provide peace of mind or provide life-changing information.

5. Am I ready to deal with the results?

Before deciding to proceed with a preconception screen, it is important to ask yourself, “What will the results mean for us, and what would I do if my partner and I were carriers of the same condition?” This would only happen to 2-3% of couples, but it's something to consider. It isn’t something that can necessarily be answered overnight and might take some time. We recommend you and your partner find 15-30 minutes of no-technology, no-distraction time to discuss this important question.

Important things to remember:

• If you and your partner are both found to be carriers, there is a 1 in 4 (25%) chance that you will have an affected child.
• You are always supported by your personal care team at Eugene.

6. Who's going to help me understand my results?

Access to empathic and expert genetic professionals should be a priority with any healthcare genetic test. Genetics can often be confusing and complex, and people often worry about their results. That's where genetic counsellors come in — trained professionals who guide people in making important decisions about how genetics influences their health.

At Eugene, each member is assigned a personal genetic counsellor who's with you every step of the way to support you through understanding what the test is all about and what the results mean for you and your family.

7. How reliable are the results?

Eugene’s carrier test is diagnostic and clinical grade. You and your doctor can use these results to make important medical choices. However, it’s important to remember no genetic test is ever going to be 100% — that’s just how the science works!

The way that this plays out in real life is that if someone is identified as not a carrier, there is still a very small and unlikely chance that they may still be a carrier. This is called the residual risk. And that’s because no genetic test can detect with 100% certainty.

8. Are my results and personal information protected?

Eugene is committed to protecting the privacy and rights of individuals with their personal information. That means that:

• Any data we capture, analyse and store from you is yours and yours alone, to use solely at your discretion.
• Eugene won’t and can’t claim any ownership or use your personal information or results for anything except the particular purpose for which they were collected.
• We will not use or disclose the information for another purpose without your consent unless you would reasonably expect us to use it for a secondary purpose or it is required by law.

You can also check out our privacy policy.

9. I don’t have a family history of the disease — should I still do it?

In the same way, you’ve got your mum’s eyes and your dad’s nose; we’ve been passing on genes from parent to the child forever. Sometimes we can also randomly pass on less nice things like genetic diseases, even if we’ve never heard of them or do not have any family history — this is the case for about 70% of people who have a test and come back as a carrier of a condition they have never heard of or knew about!

10. What happens to my sample once the test is complete?

Your DNA analysis is performed in internationally certified and accredited labs to perform genetic tests for healthcare services.

Once the lab completes the analysis of your sample, your extracted DNA will be stored in a secure cold storage facility on the laboratory premises for six weeks. This allows the laboratory to re-examine your sample if there are any queries about your results.

Still, wondering if this test is right for you? Book a free consultation to speak to a genetic counsellor.