What To Know About At-Home Genetic Carrier Screening

ILLUSTRATED BY TWISHA PATNI

Pregnancy and uncertainty go hand in hand.

Experiencing some level of anxiety when trying to conceive, grow, birth and raise a tiny person is totally normal. With this in mind, arming yourself with the right knowledge and tools to remove some of the guesswork is key in giving yourself agency to make informed choices throughout your journey, whatever that looks like.

One such tool available to people either planning to conceive or in the early stages of pregnancy is genetic carrier screening. While many couples don't undergo screening at all, some opt for the 3-gene test which looks for cystic fibrosis, spinal muscular atrophy and Fragile X, while others choose expanded screening, which looks for nearly 300 genetic conditions.

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About 75% of Australians will be carriers of one or more of these conditions, and one in 40 couples will find out they are carriers of the same gene variant and therefore have a 25% chance of having a child affected by that condition.

While daunting, perhaps more so for couples who are already pregnant, genetic testing can be reassuring, empowering and greatly reduce the risk of having a child with a serious condition.

So why aren’t more people doing it? While carrier screening is a personal choice and certainly not for everyone, it comes with a hefty price tag attached. Traditionally accessed via a referral from a GP or OB-GYN, the test costs around $600 per person ($1,200 per couple!). That was the case, until now.

Kin Fertility and Eugene have partnered to make genetic screening more accessible for Australians with the launch of an at-home testing kit. It’s still not cheap — an individual kit will set you back $549, or $749 for the couples option — but it does alleviate some of the financial pressure, as well as offer you a less invasive testing experience from the comfort of your own home.

Here, Refinery29 Australia talks to Stephanie Groube, Genetic Counsellor at Eugene Labs, to ask all the big questions from what happens if you and your partner are carriers of the same condition, to how the results are delivered, and more.

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If you and your partner find out you are carriers of the same genetic condition before becoming pregnant, what are your options?

Groube: Some people will decide to pursue IVF with PGT-M, to test and select embryos that are not affected by the condition. Others will choose to use donor eggs, sperm or embryos. Some will conceive naturally and have a prenatal test to find out if the baby is affected — they would then need to decide whether or not to continue the pregnancy. Others will decide to conceive naturally but not do any testing on the pregnancy — they may test the baby soon after birth so appropriate therapies or early interventions can be implemented if they are affected. Finally, others might choose to foster or adopt to grow their family.

If you test while pregnant, and find that you and your partner/donor are carriers of the same condition, what are your options?

Groube: If you are already pregnant when you get the results, you have the option of doing a prenatal test — either a CVS (at 11-14 weeks) or amniocentesis (after 15 weeks). These will test the baby’s DNA to see if it is affected by the condition. If so, the couple may then decide to terminate the pregnancy. Or, they may use that information to prepare for early intervention once the baby is born.

What is the optimum time frame to complete the genetic screening once you are pregnant?

Groube: The earlier, the better! The testing takes some weeks to complete (usually three to six), so we recommend commencing the process during the first trimester to allow plenty of time for results to be available and any further testing and decisions to be made.

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Termination laws differ by state/territory, however in general they are available without restriction prior to 20 weeks, and after then require consultation with two — sometimes more — health professionals and must meet certain conditions. Whether a termination would be available after 20 weeks depends on the condition the couple carries and the requirements in their location.

Does the at-home carrier screening test for the same set of conditions that a genetic counsellor tests for?

Groube: All Kin x Eugene tests are overseen and ordered by a genetic counsellor. The key Eugene differences are how the test is collected — with saliva rather than blood, making it more convenient (no need to line up at your local pathology clinic) and less invasive (no needles!). 289 genes are tested for women and 268 for men, while other providers often only test for a handful of genes.

There’s an option to test individually or as a couple. What are the pros and cons of both?

Groube:

Individual:

If nothing is picked up on the woman’s test, there is no need to also test the partner/donor, so this can turn out to be a slightly cheaper option. Having said that, around 75% of people will be a carrier of at least one condition. In that case, testing of the partner/donor is recommended and they would need their own individual test, costing more in the long run and adding up to six weeks to receive the combined result, which can cause a lot of anxiety while waiting.

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If someone is using a donor who has already had testing, this is a good option for them; the donor doesn’t need to be tested again

Couple:

Since most people are found to carry at least one condition, doing testing together at the same time can save time and money in the long run, as well as less anxiety while waiting for results. This option is highly recommended for couples who are already pregnant, due to the faster turnaround time overall.

How are the test results shared with the individual or couple?

When results are ready, everyone sees a genetic counsellor via Zoom to talk through the report, then they are sent a copy of the results after the appointment. The results can also be sent directly to any healthcare practitioners the person would like as well, after the results appointment.