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