10 questions to ask before doing a carrier screen

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

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 disease in your child. The common diseases usually screened for include Cystic Fibrosis, Spinal Muscular Atrophy, Thalassemia, and Tay-Sachs disease but there’s over 300 diseases screened for on the Eugene carrier test.

A few things we think everyone should know about carrier screening:

  • Everyone carries gene variations: These variations can affect how our bodies grow, develop and function.
  • Carrying these gene variations is completely normal: We’re all different and we all carry these gene variations, 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 disease 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 tbh its 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 healthy baby. Advances in genetic testing now means testing is more accessible and an increasing number of individuals and couples are choosing to have 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 of it. Obviously 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 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 if necessary, significantly reduce your risk of passing on the disease.

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 may unknowingly be at risk of passing a genetic condition on to your child. All diseases 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 making the decision to go ahead with a preconception screen, it is important to ask yourself the question “What will the results mean for us and what would I do if my partner and I were found to be carriers of the same condition?” This would only happen to 2-3% of couples, but it’s something to think about. It isn’t something that can necessarily be answered overnight, and might take some time. We recommend that 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?

Simply put, having access to empathic and expert genetic professionals should be a priority with any healthcare genetic test. Genetics can often be a little confusing and complex, and people often worry about their results. That’s where genetic counsellors come in — they are trained professionals who guide people in making important decisions around 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. That means that 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 a 100% certainty.

8. Are my results and personal information protected?

Eugene is committed to protecting the privacy and rights of individuals in relation to 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 the secondary purpose, or it is required by law.

You can check out our privacy policy here.

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

In the same way that you’ve got your mum’s eyes and your dad’s nose, we’ve been passing on genes from parent to 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 labs that are internationally certified and accredited to perform genetic tests for healthcare services.

Once the lab complete 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.


We started Eugene to create a kinder, gentler and more affordable approach to health — to build the kind of healthcare service that we’d want for ourselves and our loved ones. So if you’re wondering why Eugene, here’s why we know you’ll love us:

  • Simple — It’s a saliva test you can do at home. Just mail the sample back to us.
  • Smart — Get counselling on a video call & reports in simple language.
  • Caring — Your personal genetic counsellor guides you through the whole process.
  • Ethical — No fear mongering. Just honest, actionable, clinical grade advice.

Still wondering if this test is right for you? Take this two minute quiz to find out. Or if you’re ready to order your test and get it delivered to your home,

Written by
Emma Harrison

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Starting a family?

Eugene's pre-pregnancy carrier test is like a checkup to see if you or your partner are carrying any genetic disease that could be passed on to your children.

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