Have you ever had genetic testing done?
Yes I have
No I haven't
Not yet - I want to
I had a full circle moment (I'll explain more in a minute) when I had the opportunity to speak with Eugene's genetic counseller Ellie Greenberg, abour the benefits and often underated importance of Preconception genetic testing - A subject im passionate about!
I don't know much about. I'm not an expert at all, hence why you're here. So (Ellie) tell us a little bit about yourself, what you do.
Guest Speaker: Ellie Greenberg (01:29)
My name is Ellie. I'm a genetic counselor at Eugene. Eugene is an online based digital healthcare company. So we help make people make empowered health care decisions, especially around their pregnancy or reproductive journeys. We are based in Melbourne, and we offer the first medical grade at home genetic testing service to anybody across Australia and New Zealand. We do this through sending Silva based genetic testing kits. So it's non invasive, it's accredited, it's backed up and got support by ongoing genetic counselors in house like myself. There are no waiting rooms, no referrals, no need to have a blood test and wait around at the doctor's office or a path center. So it's really convenient and really easily accessible across Australia and New Zealand. We're really excited to be able to support people across Australia and New Zealand, accessing this type of health care in the comfort of their own homes.
Would you like to just elaborate on why it's important?
Guest Speaker: Ellie Greenberg (03:19)
Reproductive genetic carrier spreading, or in other words, preconception genetic carrier spreading, is really important, essentially, for anybody who is thinking about starting a family or growing their family in the future. So that's anybody who is thinking about conceiving soon or in the near future, anybody who's actively going through IVF or maybe they're in their first trimester of pregnancy. And the reason why we feel it's really important and why it's recommended by doctors and the Royal College of Australian Obstetricians and Gynecologists (RANZCOG) is because we know that it's really common in the population to be what we call a healthy carrier of a genetic condition. And that's when we're not necessarily affected or at risk ourselves, so we don't know about it, and it doesn't necessarily come up in our family history or those health conversations. But when coming to testing, it's possible to find that two people are both carriers of the same condition and therefore have an increased chance of having a child affected with one of those really life threatening and life limiting conditions. So the idea is that we want to be able to offer this testing to anybody who wants it, and that's usually in the preconception or the early pregnancy stage.
So people just jump online. They can order their test. As I said, they don't need a doctor's referral, so that makes things a little bit easier. But they can tell us who their doctor is so that we can make sure that we have them on their file and we can send them the results when they're available and just kind of loop them in to make sure that they're aware of the results and that testing has been completed. We do test for lots of common conditions that people might have heard about before. So cystic fibrosis, spinal muscular atrophy, dylcemia, which are blood related conditions that are quite common to be carriers of and Tay-Sachs disease, but we do test now for 556 conditions is our biggest, which is really exciting. It's actually a relatively new test that's come out in the last couple of months. And this is our most comprehensive reproductive carrier screening test. So really good opportunity for people who are wanting to get as much peace of mind as possible.
How do you think it (Human Design) could help in the loss space?
Tayla (06:37)
My personal story - So we lost our son in 2020 and he turns out it was a rare gene mutation. But in the early days, we weren't sure what had happened. We weren't sure what had gone wrong in him and why he was the way that he was, why he was so sick, why he wasn't going to make it. So we opted for the autopsy and in the meantime, obviously there was a long wait to get those results. So we were kind of left blind for a while. And in that time that happened, we took off on an East Coast trip just to get out. We just needed to get out and get in touch with nature and sort of give us some space to grieve. And in that process, the doctors came and said, look, we just want to rule out everything, so we recommend that you go and get some recessive carrier testing screening done. And they recommend to go through you guys. So we did. We had never heard of it before and we kind of were like, if we hadn't known this was a thing, we would have done this before we tried starting for a family. But anyway, we didn't know. So here we were, we went and we actually on the road when we did the testing, so that's how easy it was and we sent it off and it didn't take very long. And then I actually had a lady from Eugene who we did a zoom and she went through our results. And I know that she said that everybody has carriers of something. It just depends on whether or not you and your partner carries for the same thing where there's an increased chance that your child could be affected. So in our case, there was nothing that we were both carriers of. And even if we were, in this case, our son, it wasn't relevant because it was a random gene mutation, but we didn't know that at the time. So I remember getting off the phone to her and feeling like a sense of relief that we had kind of crossed that off the list.
It wasn't that, that we're looking at, but it was also good to know peace of mind for future family planning, to know that it wasn't something that my husband and I were carriers of. And obviously that opened up my eyes then from the topic. And I often speak to people about it and they've also never heard of it. And some people have heard of it and some people have gone down that track, down that avenue and done their testing, which is amazing. But it just took me back to when I did sit down with my doctors before we started trying, when I said to them, is there anything I can do? And some obviously do recommend it, but my doctor didn't. And I wish they had because I would have absolutely invested in it if I had known that it was available. So I remember getting off the phone when I was on the phone to the lady who I was speaking to, and I said to her, I want to raise awareness of this. And that's why I feel like this is like a full circle moment for me because I'm sitting here now, speaking to yourself, doing a little bit to try and raise awareness for it
Guest Speaker: Ellie Greenberg (09:43)
Thank you so much, Tayla. I'm so sorry about the loss and the hardship that you and your partner have experienced and that journey that you've gone on. I can imagine it really difficult to talk about. So thank you for sharing that with me and LIVE as well. You're right in terms of the awareness of it, and it's something that I'm also very passionate about. I think that comes from being a genetic counselor and trained in the field, but also as being a human being who is a female who is also of reproductive age. And I've also gone to my doctors that it's not something that they mention, and that's hard. It's really hard. And then you have people like yourself who come through for testing and for yourself. As you said, the results of your test wasn't necessarily an explanation for your loss, but it was also something that could help you move forward with your future family planning and have that, I guess, sense of peace of mind and reassure it there wasn't anything else that you needed to be looking at. And I think that's what's really quite amazing about the test and information that we get from it.
Because as I say, for some people who come through, they are coming through after a loss or after a diagnosis has already been made. And I often say, look, it's not something that is necessarily going to give us an explanation for what's happened. But you're here because you also want to continue building your family and growing your family. And that's where this test can be really helpful. And we know that, as you said, and as the genetic counsellor so rightly said to you in your session, everyone is a carrier of something. And that's really common. And the hard thing is we don't know because when we're a carrier of these conditions, we're not affected ourselves. So we have one healthy copy of the gene and one affected copy of the gene. And the way that most recessive conditions work, which comprise most of the conditions we're testing for, is when there's at least one healthy copy of the gene. That's all we need to be healthy. And it kind of overrides the one that doesn't work. And allows it to protect the body and allow the body to thrive in the environment and be healthy.
And so that's why we say family history is a good indicator generally of health concerns. But when it comes to recessive genetic testing, it's not going to necessarily come up in a family, in a family and family members. And we can't use that as a factor to really rule out that risk. And that's why testing is the best way to really understand and clarify that risk. And coming back to what you mentioned about your doctors and the awareness, I absolutely agree. And it's so hard, I think, in today's age with social media as well. And social media is so amazing for so many reasons. I mean, it's connecting us right now, which is beautiful, but there's so much information out there and it can be really hard for people, including myself, even though I'm trained in this profession. There are lots of elements of reproductive health and fertility and preconception that are really overwhelming and I think it's really hard to decipher what you need to do and what is just extra. I think that's when we go to our doctors and we trust our doctors to tell us what to do, but we're still in this process of educating and raising awareness, as you said. And so that's really one of our missions, is to help really raise awareness, to make sure GPS know about this. Because often obstetricians do know about it and they do suggest the testing and refer people for testing. But at that point people are usually already twelve weeks pregnant, which is absolutely amazing. But it means that if you take into consideration how long testing takes, those options can be a little bit more limited. So what we really want to also focus on, as well as the awareness across obstetricians and facility specialists, is our GP's, because they're usually the first point of contact a lot of people before they start trying actively. They'll go to their GP and they'll say like, look, I want to start trying, what should I do? And the GP, well, first let's say your contraception, okay, let's plan when to come off that prenatal supplements like go get some elevator or go get your iodine and folic acid. But sometimes they don't know about the comprehensive carrier screening that we offer. They know about the three gene test a lot, which is just those three common conditions which I mentioned before fibrosis, spinal musculatrophy and fragile X.
it's not about making everybody have testing. It's about making sure people KNOW that it exists so that they can make a decision about whether or not they want to do that themselves.
But a lot of people don't know or just aren't aware of the most comprehensive place to get testing. And that's where Eugene comes in because they don't even need to write a referral. It's so easy for them, they can just say your name or they can give a brochure. But absolutely, really, I'm on your page and on that fight to raise awareness and on this journey with you to make sure that everybody knows about it and that it's not about making everybody have testing. It's about making sure people know that it exists so that they can make a decision about whether or not they want to do that themselves. In those moments, what will this information give me? What would I do with that information? And is that something that I want? Is that something that's going to help me and my partner?
Guest Speaker: Ellie Greenberg (16:11)
For a lot of people it does provide peace of mind and reassurance. We know that about 70% of people will be a healthy carrier for at least one condition. So that just shows how common it is to be a carrier. And then when talking about the couple as a reproductive couple, we know about three to 5% of couples will have an increased chance of having a child affected. But with that I'm trained, I'm there to support people, make those and understand that information. So whether that means people will decide that they want to do further testing on a pregnancy, such as an amniocentesis or a CBS, where they actually test the pregnancy directly and see if it's affected so that they can make informed decisions. Or perhaps they're not yet pregnant and they want to consider IVF with a special technology to actually test the embryos before implantation and checking to see if those embryos are affected by the condition or not. Some people will decide that they want to take the chance and conceive naturally, maybe do some testing during the pregnancy, but maybe waiting to birth to see what the situation is and organizing support around that, making each other they're linked in with specific doctors or hospitals.
We know that about 70% of people will be a healthy carrier for at least one condition. So that just shows how common it is to be a carrier. And then when talking about the couple as a reproductive couple, we know about three to 5% of couples will have an increased chance of having a child affected.
And some people might decide to use an egg or swim donor or adopt or foster a child. And really there are so many options and those options is not one option fits all sort of thing as I'm sure you can appreciate. Everybody will be on their own journey, just like you, just like me. We're all on our own journeys. This testing helps people in different ways. Even though it's the same test, it will mean something different to everybody, and everybody will make a slightly different decision or they'll do different things with that information. And that's why I think it's quite beautiful, because it helps and empowers people to be on their own journey and to be on their own, I guess, have their own experience and make those decisions with them and their partner and their family as well.
This testing helps people in different ways. Even though it's the same test, it will mean something different to everybody, and everybody will make a slightly different decision or they'll do different things with that information. And that's why I think it's quite beautiful, because it helps and empowers people to be on their own journey and to be on their own, I guess, have their own experience and make those decisions with them and their partner and their family as well.
And how wonderful is that? We live in a world where we have choices like that.
Guest Speaker: Ellie Greenberg (18:23)
A decision to make is a choice and then a decision know the information is a choice. And a decision to not do anything with the information or to do something with the information is a choice. Those are all informed choices. And that's why I'm so passionate as well about coming on here and chatting to you. And also, you might have seen lots of our videos on Instagram on our page. Because just knowing about Eugene and just knowing about reproductive testing and that it exists, that's a choice and that's a decision. And then what you do from there continues into lots more decision making. And so, yeah, apart from the mission that we obviously stand for, which is being able to provide accessible genetic testing is also to raise awareness and support people on their journey.
If somebody wants to get tested, how would they go about that?
Guest Speaker: Ellie Greenberg (20:33)
I reckon the easiest way is to jump on our website, Eugenelabs.com, and you can order your test. There are a couple of different options now, so if you have any questions, best test to do or to opt for, you are more than welcome to reach out and we can help support you with that decision. But otherwise it's really straightforward. Jumping online, ordering your test. You pay and we send you a kit in the mail via express post, so it shouldn't take more than a few days to get to you. It's a saliva sample as we discussed before. So just spitting into a tube and doing that with your partner or on your own, however you decided to proceed with testing, sending that back to us once we have the samples and once we have the results. Rather, we'll let you know when the results are ready and schedule a zoom video call to discuss the results. In the meantime, people have the opportunity to contact us with questions and stuff. Depending on their situation and their family history, we might have an additional conversation with them just before we proceed with testing, just to go through a little bit about their family history, if they have any relevant conditions that might be on the test as well, and just making sure that we're all on the same page.
You can also find us through Instagram, so we have lots of educational videos on our page by yours truly, and you can have a look at those and the content that I covered there. We also are always available to chat and to help support people. So if anybody has any questions about what they want to do in terms of testing, what the best test is for them, and any other questions, just you can SMS, email, call DM us on Instagram and will absolutely be able to help you. The other things that Eugene also offers, and this is more relevant for those who are interested, I suppose, is other tests that aren't related to pregnancies. So proactive cancer risk testing and heart disease test. So that's about understanding the chance of having or developing later in life or at any stage in life as well as heart disease. And that can be quite empowering for people, especially experienced loss or people in their family or friendship circle who have been affected.
Is there anything else you want to add?
Guest Speaker: Ellie Greenberg (23:42)
Is just that if anyone's watching this either live or replay and you have any questions, we do have a team of really genetic counselors who are happy to help support you. So just feel free to reach out to us. We do also offer a free genetic counseling chat or appointment online on Zoom. So if you have any questions that you'd like to discuss in more detail with you or your partner about any of the tests, please feel free to reach out. And that's a really good opportunity to also make sure that you feel it's the right test for you before, I guess.
You can watch the entire conversation with Ellie here - Episode #21, you can check out their website here, you can follow them over on IG here
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As a Virtual Pregnancy Loss Coach, Tayla supports heartbroken loss moms by assisting them to cope with their grief & ease the overwhelm that comes with life after loss. With her lived experience, sense of humour, & realistic approach to living a meaningful life after loss, she has earned a world-wide following & a passion unlike any other. Learn more here