We talked to Zoë from Eugene labs to ask her what they think are the 10 questions to ask before doing genetic carrier screening.
Thinking of doing genetic carrier screening? Eugene have put together the ten most frequently asked questions (and their answers) to help you with the decision making process.
1.) Who is Eugene?
Eugene Labs are a team of clinicians, technologists and developers who are working to create the sort of healthcare service they would want for themselves and their loved ones. Eugene offers all-inclusive clinical genetic services offering access to genetic testing and genetic counselling. They are absolutely passionate about ensuring that everyone, everywhere has access to genetic specialists and the world-leading technology so that they can make timely and informed pregnancy decisions.
2.) What is genetic carrier screening?
Carrier screening is like a check-up for your genes. It tests the DNA of you & your reproductive partner for variations that could cause a serious genetic condition in your children. Common conditions screened for include Cystic Fibrosis, Spinal Muscular Atrophy, Thalassemia, Fragile X syndrome and Tay-Sachs disease – but, there’s a total of 288 conditions on the Eugene carrier test panel.
It's really important to know that most people get reassurance that that their reproductive risk of having a child with one of these conditions is low. But if there is an increased risk, there are options that can help people make empowered reproductive choices or even avoid passing on the condition all together.
A few things we think everyone should know about carrier screening:
Everyone carries gene variations: These variations can influence 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 children: If these variations are shared by both partners, there is a 1 in 4 (25%) chance that their children will be born with a serious genetic condition.
It’s about reducing risks, not eliminating risk: Genetic carrier screening is about reducing your risk as much as possible, but not eliminating it completely — because tbh it’s not even possible to do that.
3.) Why should I consider having genetic carrier screening?
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 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: 90% of children born with an inherited genetic condition don’t have a family history of it. Obviously this often feels completely ‘out of the blue’ for the parents.
Genetic diseases don’t discriminate: Our test includes many serious conditions that prevalent across the world and also targets specific conditions that are more frequent in different ethnic communities too.
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.
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.) I don’t have a family history of any genetic conditions — 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 conditions, 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!
We also acknowledge that when you and your partner have a child it’s the first time that your shared genetic identities have been tested out. 90% of babies born with an inherited genetic condition have no family history of it. That’s because carrier of most gene variations are healthy and only ~2% of couple share a variation in the same gene.
5.) What will the test tell me?
Eugene's carrier screening results will let you know your risk of passing on a genetic condition on to your child - it can provide peace-of-mind or life changing, medically-actionable information.
The test only includes genes that can have a significant affect on the health outcomes and quality of life of children and their families. In most cases, the conditions are progressive and have limited treatment options.
6.) Am I ready to deal with the results?
Before making the decision to go ahead with genetic carrier screening, it is important to ask yourself the question “What will the results mean for me/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 have options available to you to help reduce the risk of having a child affected by one of these conditions.
You also will be able to gain support if you choose not to test for these risks during pregnancy, knowing who can support you is equally as important.
Your results may be important to share with other members of your family who are also family planning – this is most relevant to blood relatives like your siblings and first cousins who are also more likely to be carriers.
7.) 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 will be 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.
8.) How reliable are the results?
Eugene works with internationally accredited diagnostic laboratories. 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.
Why would I choose Eugene to be part of my carrier screening journey?
Having supported over 1000 couples in the last 12 months, we've learned a lot about what matters to you, so-
Eugene is simple - we offer an all-inclusive service all from the comfort and safety of your home. Testing, genetic counselling and of course shipping and handling are included. The cost for couples is $749AUD and $549AUD for individuals.
Eugene is inclusive and the results are actionable - We provide access to screening of up to 288 genetic conditions that are relevant to people of all ethnic backgrounds and use the latest technology to ensure the highest sensitivity of results - which means you get the action-focussed answers to help you make informed pregnancy choices.
We've developed lots of helpful information to support you to learn at your own pace and the first version of our app can help you keep track of your journey too.
We know how important your personal health information and genetic data is - so we've built our own security systems to ensure it stays private!
We take the time to listen to your story so that we can support you and your individual needs while giving you access to the best technology on your terms.