Eugene’s genetic carrier screening is a convenient saliva-based test that can be completed from home. It's the test that checks to see if you or your partner carry a gene variant that could cause a serious genetic disease in your child.
Close to 300 genetic conditions are screened for, including more common conditions including Cystic Fibrosis, Spinal Muscular Atrophy and Tay-Sachs Disease.
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What can I expect from the results?
You get peace of mind, or life changing information.
Most people get peace of mind.
7 out of 10 people find out they are healthy carriers of at least one condition. However, most genetic conditions can only be passed on to your child if you and your partner are carriers of the same condition.
The good thing is, most couples who have this test find out that they are not carriers of the same condition. Knowing this in advance can give you confidence, reassurance and peace of mind that you have significantly reduced your risk of having a child born with one of these conditions.
Others get life changing information.
1 out of 40 couples find out that they are carriers of the same condition.For these couples, there’s a 25% (1 in 4) chance that they could have a child that is affected by the condition.
This can be overwhelming, but honestly, it’s really important to know. Knowing your risk can help you make empowered choices about how you plan your pregnancy, or even significantly reduce the risk of having a child affected by the condition.
Call in the care team?
Send this to the people you trust to speak to about your health — whether that’s your partner, parent, doctor or friend.
Genetic counsellors guide people in making important decisions around how genetics influences their health. They are not doctors, but are genetic specialists that are trained to identify, explore and explain genetic risk.
Our counsellors take the time to help you understand how your genetic identity intersects with your personal, family and medical history. They embrace all aspects of your experience with compassion and translate complex genetic information into language that’s meaningful to you.
Our counsellors help you make informed choices that feel right to you — whenever, wherever.
Despite popular belief, 80% of babies born with an inherited genetic condition have no family history of it. That’s why genetic carrier screening is relevant to all people who are planning a pregnancy or early in a pregnancy. Your family background or history can be important predictors in what gene variations you may carry – but its only a small part of the puzzle. While these conditions are rare, and most of us haven’t even heard of them – the combined risk of having a child with an inherited genetic condition is greater than the risk of having a child with Down syndrome.
Finally, these conditions won’t be detected by routine tests in early pregnancy like NIPT, CVS or Amnio. That’s why this test is relevant to everyone who is family planning or is currently pregnant.
Generally speaking, before or early in pregnancy. Many people consider their carrier status as important health information just before trying to get pregnant or early in their pregnancy to make informed reproductive choices for their family.
So in essence, before you’re pregnant or within the first 12 weeks of pregnancy is perfect timing.
The 3 gene screen includes Cystic fibrosis (CF), Spinal muscular atrophy (SMA) and Fragile X. By screening for these 3 conditions the chance of picking up a couple at-risk is approximately 1 in 250. These conditions are mainly common in the Caucasian community, but to be honest it’s 2021 and we are all a lot more mixed than we think we are.
Using an expanded panel is much more inclusive to risks faced by everyone, and has much higher detections rates. 7 out of 10 people who do the test are identified as healthy carriers of at least one conditions on the test. Additionally, 1 in 40 couples are also found to be at an increased risk of passing on a condition on the test. Knowing this info in advance is really important because it can open up reproductive options and even significantly reduce the chance of passing the specific condition.
We also acknowledge that the more you screen for the more potential findings there will be – that’s why we think genetic counselling before and after the test is so important!
The purpose of genetic carrier screening is NOT to diagnose you with the conditions on the panel – rather to identify if you and your partner carry gene variations that, if passed on to a child, could result in them being affected by certain conditions.
So the implications are more likely to be related to difficult choices you may need to make regarding your pregnancy plans or management. But as they say, information is power. That being said, in rare cases, testing may reveal that you are more susceptible to some manageable adult onset conditions.
Many people who had had testing with Eugene describe feeling informed, empowered and aware and we believe that is as important as the results themselves.
Carrier screening is not used to identify personal risks, and is generally used by individuals planning a family to know their risk of passing on serious inherited disorders to their children. Life insurance companies generally use genetic test results that do identify personal risk in deciding whether or not to offer someone life insurance cover and at what premiums to do so.
Because of that, the risk of your carrier screening results affecting your ability to get life insurance or the premium you’re charged is very low.
From the moment we receive your saliva sample, the turnaround time to get your results are 3 to 6 weeks.
Absolutely! Each test comes with a post test genetic counselling session. Your Eugene genetic counsellors are all trained and have practiced across a number of specialties in addition to carrier screening and together with our consultant geneticists and widespread network of healthcare professionals, we make sure you’re always connected and supported.
As a healthcare company, we comply with the most stringent local and inernational privacy and security regulations. We take incredible care to use technical, process and physical safeguards to secure your personal information and protect it against misuse, loss or alteration.
Finally, Eugene doesn’t share any your data with anyone but you and (with your express permission) your doctor.
Despite popular belief, 80% of babies born with an inherited genetic condition had no family history of it. That’s why the Eugene test is relevant regardless of your family background or history.
Your saliva sample is destroyed after 30 days. In unusual cases when testing takes longer than 30 days, the specimen will be retained until the report is delivered.