The Test that Unlocks the Chance for Genetic Harmony

Dr. Amber Klimczak and Dr. Beverly Reed discuss genetic carrier screening- the test they recommend for all patients looking to conceive. They discuss what it tests for, why you should have it done, and the options on how to complete the testing. They discuss insurance coverage and cost. They discuss what to do with the results and the treatments available.

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Transcript

0:06

Hi, I am Dr. Beverly Reed. And I'm Dr. Amber Kza. And we are two peaks in a pod. Well, hi everybody. Welcome back. Today we're gonna be doing an episode that we actually hope to share with all of our patients at our practice Peak Fertility. And the reason is, and if you guys have seen your own fertility doctor. You guys may have been offered a test called Genetic Carrier screening. We offer this test for all of our patients, but everyone feels very confused as to should I get this test done? And it is a bit of a complex topic, so we thought it might be helpful if we could break everything down step by step so our patients can decide, is this the right test for them? Yes, there are so many different types of genetic testing when you get into the field of fertility, and I think that can lead to a lot of confusion. Yeah, so the tests we're talking about is screening for whether you carry a recessive or a hidden gene, so this is genetic carrier screening. Yes, absolutely. So this test gets offered to all of our patients, but I'll say one of the first things patients will say sometimes is, oh, well I don't have anyone in my family with a genetic problem, so do I still need this test? Do you hear that from patients too? Yes. All the time. And the answer is. Still need it, right? So, as I said, these are genes that are hidden, meaning you might have no family history of this condition or disease popping up. It does not mean that you don't potentially carry one bad copy of this gene the way genes work. Remember, if you have one bad copy, you are okay'cause you have another good copy that's covering you. You only get the disease if you have two bad copies. Exactly, and so you don't wanna be the first person in your family who discovers, oh wait, we do have a genetic problem, and it just wasn't uncovered. When you have your partner, if they coincidentally happen to carry the same gene that you carry and you have a child together, in that case, typically there's about a 25% chance that you could have an affected child, even though neither of you guys knew that you carried this in your family. Right. So very important to understand that if you and your partner both carry the same matching bad copy to a particular gene disorder, that your baby can get one bad copy from each of you and only get those bad copies. Absolutely. So here at our practice Peak Fertility, this testing is optional because we believe in shared decision making. We don't want our patients to be forced to do any kind of testing. But in terms of do we recommend this testing, I would say from both of us, you would hear a resounding yes, but it's not just us. Our national organizations for ob gyn and fertility are also recommending. Some of the test on the fertility panel. Right. Um, and so I think one of the common questions I get is, why do you recommend it? Mm-hmm. Why is it important for me to get this test done? Right. And we just talked about you would have a risk of potentially having an infected child. Right. And I do have couples that say, well, we're okay with that. We're okay with, um, knowing that we were gonna have a sick child. We would still wanna get pregnant and move forward in the future. However, I still think it's important information for you. If you are going to have a one in four chance of having a very sick child, you probably wanna do some planning in advance of delivering that baby. You might wanna deliver at a high risk hospital. Financially that can be very expensive to have a sick child. So you wanna financially plan, you might need to plan for extra child care. Um, so I do think that it is important information regardless of what you utilize it for. Absolutely. But although some people may feel like that, I do feel that most of my patients that I see, if they find out that they both carry the same copy of a gene that could be passed on their child that would cause a disorder, instead they're asking me, Hey, are there any treatments that can be done to prevent us from having a child affected with this condition? And there are treatments that, um, are available and we're gonna get that, get to that end the episode. Um. I do wanna say that our national organizations are recommending screening for certain genes such as cystic fibrosis or spinal muscular atrophy. But these days the hard part is. You can actually screen for way more than that. And so at some point it becomes a question of what are all the genes that could be screened for beyond even just the standard recommendation? So for some people, they may choose to just screen for a couple of genes, or other people may say, gosh. Can I screen for anything possible? And so I do think as providers sometimes it's hard for us to find the just right for most people. And so we have chosen a panel, um, that. The logic as to why we use this panel is it covers genetic conditions that we know would cause major medical issues. There are some panels that check for conditions that maybe aren't as serious, and it's hard because yes, sometimes information is powered, but also if you find those things out, it can also be more stressful. Um, and so I discussion between you, your. A panel panel that covers about 2 74 genes is a pretty good size panel, right? Yeah, absolutely. And again, these are recessive conditions and so when you get your panel, whatever your doctor has recommended or whatever you agreed upon, you can actually see the conditions that you're gonna be tested for. I get asked a lot of time about other diseases that people maybe have heard of before that are not what we call. Single gene disorders or recessive inherited diseases, and those will not be screened. Yeah. So one of the common things that I get asked about, for example, would be something like autism, right? Mm-hmm. Autism is multifactorial. There's not one single gene that causes it, so we can't screen for it with a genetic. Carrier panel. Yes, absolutely. And um, I think I even beyond that, there's kind of chromosomal disorders. Um, we know that we all have 46 chromosomes where we get half from our mom and half from our dad, but sometimes when the egg and the sperm come to nature can make a mistake and give the embryo too many chromosomes or not enough. This wouldn't really be able to predict for us what your rate of making chromosomally abnormal embryos would be. So this is only checking the genes on the chromosomes and we're not checking all the genes. Just a panel of the genes as well. And this is where it does get confusing. Sometimes people even are not sure, have they had this testing before? Some sort of genetic testing and they just don't know what all they've been tested for. Um, and so I think that's why, um, you know, some, sometimes just talking through it with us, sometimes we can kind of, um, get more information about it and then guide you in, in whichever direction. Mm-hmm. Yeah. And when you're looking at how many diseases you wanna be screened for and when you're discussing with this. With your doctor, some of the important considerations would be, how common is it to carry that particular disease? So the panels are kind of built often on, um, what the carrier frequency is in the population. So certain diseases, which you'll hear us give the example of cystic fibrosis, are much more commonly carried in certain populations versus other diseases are more rare. Right? So if it's a more commonly carried disease, then you're more at risk of having overlap with your partner. Yeah, absolutely. I also like to make it clear to my patients too, because they're all getting offered this test is it's not because they have infertility that they're being offered this test. It's people looking to conceive should be offered this test not to you at know about you. Wanna before you. So let's kind of talk more about how this test can be performed because prior to being here, I kind of thought there was only one way to do it, and I'll say it's your favorite way to do it. Blood. Yes. Dr. K loves this. Yeah. So, um, the more traditional way is you can get a blood draw then. And the reason Dr. K likes to do it is she loves to tell me your what? Impatient. Impatient. Oh yeah, that's true. I'm like, what am I? Yes, you're in a hurry. Yes. Yeah. Blood results come back a lot more quickly than the other screening techniques, so it's just a simple blood draw. Now, I admittedly don't love needles either, but it's fast and it's reliable, so I will see results come back quicker when we do the blood screen and I don't get as many. Um. Inquiries back with the blood because the other method that we can utilize is a saliva kit, which is much nicer. Right. You don't have to get a needle stick. I think that's my preferred way because less needles, and I do feel like it's more convenient too, because they can get the kit to their house. Mm-hmm. You know how it's hard get guys in sometimes do. So just be like, yes, here's your kit. Yes, your house. If you're gonna opt to do the SVA kits, which is totally fine, know that it takes a little bit longer in my. Yeah, maybe three to four weeks. Um, and you have to really be diligent about doing it. It's in your own hands, so you can't eat, drink, smoke prior to doing it'cause it can affect things. And then you have to collect enough saliva. Sometimes I'll get them back where they had insufficient saliva to run the test. So that's one of the things that will happen with it. Um, and then you just have to make sure you address it. Properly. Sometimes the packaging can be complex. Now there's two strategies on how you can do your testing. So one strategy is that you can start with just one of you, and if that initial person is negative for everything, really you could say maybe you don't need to test your partner, right? Because this is typically checking again for those recessive conditions where you would both need to have a copy of it to have an effect. Child. But when you do that strategy, and I bet you don't like that strategy, it's very slow. Right? It's slow and I think it can be anxiety provoking, which are both things that I like to avoid. Yeah. Okay. I think that makes sense. Didn't really think about the part, but, but yeah, imagine the partner number one, does their test. Let's say it takes. Three weeks to come back and let's say they carry something and now they're worried, does their partner carry the same thing? Well then their partner does the test. You wait another three weeks, then you just lost six weeks. Um, and so another strategy is you can do tandem testing, meaning you and your partner both do the testing at the exact same time so that you get your results back at the same time. And then that way you've got all that immediate information to help guide you on next steps too. Um, now why would anybody do one at a time? Well, I'll say sometimes it can help you save on cost. So if cost is really important to you, then I can understand the logic in starting with one partner first and hoping everything's negative, because then you could save on the cost of having the second partner have to do the test. But one of the really good things is I've seen insurance helping a lot cover this task as well. Now that is something that is so important to me is transparency with cost with these genetic carrier screening companies. And I'll have to share some of my prior experiences. This is when I worked at another place, um, where some of these companies can be a little shady. So I want you guys to know about this. Okay? So, um, I had a sales rep come in and she told me, Dr. Reed. Is great, and we promise you your patient will not have to pay any more than 49 to have this test done. Wow.$49 for this huge panel. That's a great deal. And so, um, ordered the testing and it's true, patients didn't have to pay any more than 49. Um, but then I had a patient tell me, oh my goodness, I got my EOB, that's kind of the insurance side of things. And she said, this genetic insurance a. Oh my gosh, I didn't even, this doesn't even seem legal to do this. Um, and it was true. My patient didn't have to pay anything, but the insurance company was having to pay an amount that just honestly wasn't even reasonable. And I'm all for your insurance. You know, paying for the things that needs to, but they were ways overcharging the insurance company. And you have to be really careful because you don't want that to eat into your benefit that you could otherwise use for other medical issues or other fertility issues or things like that. And so one of the things I love about the company that we use is, um, and if you're a patient, you'll get a message about this, is you can call and talk to the genetic carrier company to say, does my insurance cover this? How much am I expected to pay? And if you don't wanna pay, um, through your insurance company, then you have a self-pay price that is discounted as well. So I love having all those options and getting to know before you do the test. Yeah, absolutely. You kinda have to be your own advocate for it and investigate it, but if you're diligent, you should not get stuck with a big bill. Yeah. And I remember talking to another genetic carrier, screening rep, and I was really trying to pin her down. How much does your test cost? How much would you bill the patient's insurance and everything? And, and she said, oh. Just don't worry about it, just just order the test. They'll find out later, and I'm like, this is insane to me. In what other field is it okay for somebody to do something without knowing the price? This should be upfront and transparent, and it drives me crazy that honestly, many of those companies are not. So when you go into it, make sure that your own advocate and understand the pricing of it ahead of time. Personally, I think the cost is very reasonable, even for people that don't have any insurance. Um. I think for our patients it's roughly about two 50, um, for each partner to do the test. That's if they have no insurance coverage at all. So if they do have insurance coverage, sometimes they can be even more affordable, but you always wanna know that beforehand as well. Okay, so I wanna ask you a question. So let's say I had the genetic carrier screening done and it comes back normal. Am I good? Am I in the clear? Yeah, no. So this is actually really important. So whenever I review my patient's results, I never say your. Test results were normal. Yeah. Because that's not actually what it's showing. It's saying we were not able to detect that you carry any of the genes that are screened for on this panel. Mm-hmm. There's two things that you should understand. One we just told you, we're not screening for everything that's out there. Right. So it's whatever your panel is actually screening for. And then there is a concept of something called residual risk. So even if you screen negative, there is a small chance that you could still be a carrier for one of these particular diseases for a lot of reasons. Perhaps it could be different gene variants that they're not capable of picking up on. Right? So you're never a zero risk when you get your panel back. It just means that they screened you and are not able to detect any of the ones that they can test for. Yes, absolutely. And I think the other part about being normal too is, you know, sometimes people will say, oh, well, you know, does that mean I'm low risk for getting cancer? Mm-hmm. Or things like that, right? Because they may have heard of people getting tested for cancer genes or things like that. And remember, no, this is a panel that is more so focused on fertility and kind of passing genes onto a child. Cancer, there is a cancer panel, but that is more so a panel that you get done if you have a known family history of cancer genes or if you have a, you know, if you've personally been diagnosed with cancer at a younger age than you would've thought or something like that. Um, so yes, even if you were negative for those genes, it doesn't mean you couldn't be positive for some other gene that we did not test for. Mm-hmm. Okay. So let's say I'm your patient and my partner hasn't done the testing yet, but. I came back abnormal, not just even for one thing. Let's say I'm, I'm abnormal for five things and I'm panicking. Okay? What would you tell me? So reassure yourself, this is usually not anything to worry about. If you just carry one bad copy for these diseases, usually that means that nothing bad is gonna come for you, right? But we do need to screen your partner to make sure that. They don't carry one of these five genes that you carry. So next step would be testing your partner and then seeing where we go from there. Most of the time they're not gonna carry the same one. When you look at these rates, depending on the disease, it's about a one in 50 chance that you both might carry the same disease. Okay. And what if I was abnormal but my partner came back as normal? Do I just kind of forget that I was ev ever abnormal? Does it not matter? Do I need to tell my kids any of this? Yeah, I think it's useful information to pass on to family members especially, um, relatives. Siblings that you might have who share a lot of your same, um, genetic material. I think it's really useful information because they may be having a partner in the future. Yeah, and I would tell patients too, you know, here's the thing, when you're testing for 2 74 things. You're gonna have something, right? Yeah. So never feel bad about it. I'm actually more surprised mm-hmm. When I get a negative handle, right. Where you don't carry anything because it's so common that you're gonna carry something. So don't let it stress you out. Now, very rarely, um, sometimes even if you only carry one copy of it, you can be mildly affected. And so we would, if that's why. If you were abnormal for something and your partner was normal, I still like you to call the genetic carrier company. Oftentimes, they offer free genetic counseling so you can just understand what you were abnormal for and if this could have any mild implications for your health. And I do agree with Dr. K. I really like my patients to be empowered with that information so that if you comfortable opening up. Course your children one day, um, that you could say, Hey guys, maybe we didn't realize this, but we carry this abnormal gene in our family and let's just kind of let everybody know so that they can have testing too, if they, if they wanna. Absolutely. So important. Yes. Okay. Perfect. Alright, now here's the big one. What if I'm your patient? I'm abnormal and my partner's abnormal for the same gene. Yeah. What do I do? So this is not the end of the world. This is really why we fertility doctors are especially thoughtful about offering this screening to our patients.'cause you have some options if you're in this circumstance. So the first thing to consider is you could. Still try and conceive on your own, conceive naturally, and know that you might be interested in doing some first trimester screening options to learn whether your child might be affected with one of these diseases that you're at risk of getting. So you could undergo natural conception and undergo screening once you're actually pregnant. The other option is maybe you wanna proceed with getting pregnant with donor gametes, so you could replace either sperm or egg, and that would eliminate the risk because as long as. One of the gamuts doesn't carry that gene, then you wouldn't have an affected child. So you could get pregnant through IVF if you wanna do donor egg or maybe even donor sperm insemination. So you can look into some options there. Um, the other option is you could potentially adopt if that is something that's important to you and you wanna avoid it all together. Um, the reason why we, IVF doctors are really interested in this information is because we'll then offer you, I VF with something called PG tm, and this is a specific type of genetic testing of the embryo itself. Once you go through IVF where we check for that monogenic or single gene disorder that we are. Already aware of being a potential issue in the embryos. So you go through IVF just like you would normally, except for when we send off the testing for the embryos itself. They're screening to tell you, okay, this embryo carries two bad copies and will be affected by that disease. This one only carries one copy. It's a carrier just like you. Or maybe this one doesn't carry any copies at all. I feel like great preferentially, if you have one that doesn't carry any copies at all, that'd probably be your ideal embryo, um, to transfer first. But, um, I love how you mentioned donor gat and I did wanna just touch on that too because as we're talking through this, we've been talking about partners. And remember, some of our patients are, um, in a same sex couple where they're gonna be using donor. Um. Sperm. Usually when we uh, have same sex lesbian couples and some of our patients are single mothers by choice too, in which they're gonna be using donor sperm. And what is amazing is these days, most sperm banks, in fact, all that I know of, in order for the man to donate sperm, they have to have already undergone a genetic carrier screening panel, which I think is great. That is why, especially in those patients, we recommend getting. Screen yourself so that when you are shopping for sperm at the sperm bank, you can find a donor that matches up with you in terms of what you guys both carry. But one thing you do have to be careful with is sometimes they may have a different size genetic carrier screening panel than you got, and so you just wanna make sure that if he, for example, carries something that you have been tested and are negative for that same thing. Yeah, that is really tough. Sometimes it's, that's right, because the more things they start to test for, the more likely you're to carry something, but then you wanna make sure you have been tested for, and that you're negative for that too. Mm-hmm. Um, but again, outta all those options, we um, kind of just discuss the vast majority of people are gonna wanna do ivf, right? Because they don't wanna have that risk of having an affected child. I'll say unfortunately. One kind of frequency of when I'm seeing people both carrying the same gene is when they've already had a child who was affected, and it always just breaks my heart so much. So there are a good number of patients that come to see us who don't have infertility. They have no trouble getting pregnant. Reminds me of this sweet patient that I had. She was at my loss clinic where she was in the waiting room. She comes in to see me and she looks a little bit tearful and I said, what? What's wrong? And she said, well, one of your other patients was in the waiting room and your other patient said to me, why are you here? You look too young. You shouldn't have fertility problems. Now don't get me started on why that patient said that to her. That's so, oh my gosh. But the patient was like, she's right. You know, I'm young and I don't have infertility. I'm here because I lost my baby. My baby died from a genetic disorder and that's why I'm doing, you know, and I'm just like, oh, that's just the worst. Um, but you know, in those cases, when they've gone through that loss, and of course their baby means so much to them, they just say, gosh, I wish I could have known this, um, beforehand, because it's such a shock to have that happen. They don't want it to happen again. And so they will present to us and say, Hey, we know because of this having happened, that we both carry the same gene and now we wanna do a V testing so we can keep this from happening again. Um, and so having seen many cases of that, that's why whenever we see a new couple that's never seen this before and they say, well, I dunno if I should do this. And we're always like, please do it. Because we've seen, we've seen the really hard cases mm-hmm. As well. Um. Now, that being said, I am curious, have you done it genetic care training? Yeah. Yeah. Okay. I did it, um, gosh, 15 years ago. Okay. When I first went through IVF, so I Are you a carrier? I didn't carry anything, but now I don't have my testing. I think that my panel was pretty small. Yeah. Like, I'm sure. Mm-hmm. Because Steven, they did not have to test him. Mm-hmm. Mm-hmm. And then I made him do it years later when I was convinced he had bad jeans. He came back clean. You know, I, this is because I'm ancient. Um, they weren't really doing these panels back when, when I was younger. Um, so I'm curious sometimes maybe I'll just do it now. I'm not trying to get pregnant or have any more kids, but sometimes I'm just curious to see what, you know, what I curious anything, uh, in my genetics too. Mm-hmm. So, um, so we'll have to see. Okay. Um. Now I wanted to kind of talk about, uh, how we can distinguish for a patient if they've had this done before, because that is what probably comes up so frequently is I'll see them with a new patient, um, consultant. They'll say, well, I think I, I think I had that. I, I had my chromosomes checked, or, you know. So, um, let's kind of just talk about the broad categories of the different types of genetic testing that patients may have had that aren't this. Mm-hmm. Yeah. I think one of the first things that would be misinterpreted mm-hmm. As genetic carrier screening is what Dr. Rita was just saying, something called a karyotype. Mm-hmm. Right. So a lot of people will get a chromosome test. Done maybe with your ob gyn or your primary care doctor for various reasons. Maybe you had a pregnancy loss or something like that. A karyotype is a particular type of chromosome testing where they lay out your big pieces of genetic material called chromosomes to make sure that you have all of them in their located in the proper location. This is totally different than gene testing where we're. Obsessive inherited genes that cause diseases. Yeah. So a little bit different distinction there. Yeah. And most of the time if you've had that done, it's because you've had like recurrent miscarriages or something like that. So I'll say my average patient who has infertility, not pregnancy loss, wouldn't have had that done. But it does feel. Who've had that testing done before because they say, already have that. And I'm like, no, that's a different test. Mm-hmm. And then sometimes I get people who say, um, whenever we are, let's say, um, we're about to do idf, okay? And I say, okay, let's talk about whether you should do genetic testing on your embryos. And I'm referring to. PG looking for the number of chromosomes each embryo has, but they tell me, oh, I don't need to do that because I already did the genetic carrier screening. And it's negative. Correct. Right? Yes. So can you help us sort out the difference there? Yes. Get this question all the time. Yeah. So when we take a small sample or a biopsy of your embryo with. Standard genetic testing, PGTA for embryos. All we're looking for is we're trying to see does that embryo have all of its chromosomes, big pieces of genetic material present, or does it perhaps have an extra chromosome or a missing chromosome? That's what we're looking for. We are not looking at the specific genes or small pieces of genetic information that are on that bigger. Chromosome. So we're not looking at the same type of testing. If you have already undergone genetic carrier screening and we know you carry a bad copy of a gene, both of you carry it and we are looking for that gene, then we can employ that particular type of embryo testing. If we do not know ahead of time, we're not looking for those specific genes on the chromosomes'cause we don't know to look for them. And I think from a patient perspective, it seems like it would be so easy, right? Well, hey, while you're there, check for that gene, right? But it's actually very labor intensive. And so if we have a patient where we know they need to check for, for example, cystic fibrosis, they actually have to submit copies of their gene mutations to the genetic testing company. Then that company needs to see if they're willing to accept the case. They need to build a probe. And even building the probe can sometimes even take several months before we can then start their IVF process. Um, so it's definitely a much bigger and different process to do single gene testing when compared to just checking the number pros overall. So for most of my patients, who do IV? Most people will be opting to do PGT a to know the number of chromosomes each embryo has because regardless of whether you carry anything or not, you can make abnormal embryos, um, and that can rule that out. But my subset of patients who will choose PGT M are the ones where they've done the genetic carrier screening and they know they both carry an, um, effective copy of a gene that needs to be tested. Now, you know what's kind of cool is thinking about the future. Okay. So I do tell patients we don't do that now, but in the future, maybe even five years from now, it could be very different. Mm-hmm. So I just saw, I've actually been meaning to tell you, I just, um, saw some information about a company that is offering to do. Whole genome sequencing of an embryo. That means you would know all the chromosomes and all the genes, but admittedly, that's kind of hard because we don't even know what all the genes do right now. I know. Yeah. Right. That sounds overwhelming to me. It does. I think it could actually create a lot of stress for people. Right? Yeah. Because imagine we get these results back. Now, of course, if. It was positive for, you know, cystic fibrosis or something, we would know how to advise somebody on that. But sometimes you get a gene, you know, let's say it's LL gene and it's abnormal, and then the patient says, well, what does this gene do? And then we look up and we say, well, nobody's figured it out yet. Yeah, okay, well, should I use this embryo? Well, we dunno, right? Yeah. Yeah. So sometimes too much information can be stressful or can be a bad thing, so I'm interested to kind of watch and see how that goes. Um, but it seems to be happening very rapidly. Yeah, absolutely. I think the technology progresses really quickly, but our understanding and application of the technology is fairly slow. Yeah. So we'll see. Yeah. Yeah. Okay, perfect. Well, we're hoping that really just that intense discussion made it really clear for everybody who may be struggling with this. Um, if you're listening and you wanna have this testing done, whether you're our patient or a patient at another fertility practice, just reach out to your provider and get signed up. Okay. Thank you guys. Bye.