Transcript
Speaker: When people hear the words genetic screening, it can immediately feel intimidating. Like there's suddenly a whole new language to learn while you're already trying to navigate so much in the world of assisted reproductive technology.
Speaker: But what I loved about this conversation is that it really brings things back down to earth. But it's really more meant for empowerment and really education and to have information to help you make the best decisions for you.
Speaker: In today's episode, I'm joined by genetic counselor, Sarah Stuber from Natera to break down what genetic carrier screening actually is, what these tests are actually screening for, and how this information helps intended parents, as well as egg donors, make more informed decisions moving forward.
Speaker: We also talk about misconceptions, family history, donor screening, quote, designer baby myths, and how to approach this process without getting overwhelmed by information overload.
Speaker: Enjoy.
Speaker: I feel like when people hear genetic screening, it can kind of feel intimidating, overwhelming, and honestly like a little scary. So, okay, can we just first start, can you just ground us? What are we actually looking at whenever we are talking about genetic screening?
Speaker: Yeah, so when we're talking about carrier screening, um i definitely understand that it can feel overwhelming to a lot of people. sure um And I feel like it sometimes is the forgotten screening. i feel like so many people think about chromosome screening or think about you know when when they do become pregnant, they talk about the test that will determine the fetal sex. But very rarely do we hear people talk about carrier screening. So when you hear it for the first time or you start to read about it for the first time, it can feel intimidating. But it's really more meant for empowerment and really education and to have information to help you make the best decisions for you. So when we talk about carrier screening, we're talking about looking to see if an individual could carry a genetic change that might be passed down to a child or to that offspring. So many times we would not know that we're a carrier. We often won't have a family history. So we all carry something. You know, when depending on what study you read, literature suggests you could carry between two to six different mutations and have absolutely no idea. It many times doesn't cause any issues for us.
Speaker: The point of the carrier screening is really to see what are you carrying and could this be something that you could pass down to future generations that we would want to know about. Okay. And when you say like carrying, what are maybe some of like the typical things that people might read about?
Speaker: Yeah, I would say the most common genetic diseases or conditions that we would hear about are things like cystic fibrosis is one that most people have probably heard about. Spinal muscular atrophy is another one we may have heard about. Duchenne muscular dystrophy. So those are sickle cell disease. Sure. maia yeah Those are some of the more common um genetic conditions that we talk about with carrier screening or may have heard about. But really, we can screen for hundreds now. Depending on which laboratory you're working with, which panel you're looking at, there's wow a lot of genetic genetic screening out there.
Speaker: Oh my gosh, that's amazing. When we're saying genetic screening in the context of egg donation, what are actually what are you actually testing for? Or is it the same?
Speaker: it is going to be different depending on which bank or donor site you're working with. So everybody's a little bit different. That's where it's you know so helpful as intended parents to better understand and talk to wherever, whichever source you're getting your eggs from, to understand what what is their screening protocol, what are they doing, right? There's some basic guidelines that are out there from the FDA from the American Society of Reproductive Medicine that tell us, you know, at a minimum, here's what we should be doing. But every donor location is going to be a little bit different. And are they doing, you know, that minimum of what's required with the guidelines? Are they doing a little bit more? Are they going above and beyond? So really understanding what what each location, each site is doing is helpful to intended parents. um I would say that the bare minimum that we see from a genetics perspective would be looking for what we call a small panel, looking for cystic fibrosis,
Speaker: spinal muscular atrophy, what we call the hemoglobinopathies. Those are genetic conditions that affect our red blood cells. So they're called alpha thalassemia, beta thalassemia, and sickle cell.
Speaker: Fragile X, which is something that's carried on the X chromosome. That's kind of our bare minimum that we would look for. But I would say nowadays, most egg donor sites and locations are doing larger panels, looking for hundreds of conditions, just because it's It's helpful, it's informative, and and we really want as much information for these families as possible.
Speaker: No, 100%. When you say sites and locations, you're really mostly talking about like egg banks or like an in-house donor program. In terms of like a fresh cycle, so what we do here at Egg Donor and Surrogate Solutions where we're actually matching a donor with a family,
Speaker: what would Is there anything that changes about that genetic screening since it's, I guess, testing that actual sperm with that actual egg?
Speaker: Yeah. um If we have, you know, ah a matched center and we're going to do a fresh cycle, um really it it would depend again on the policies of that center. Sure. But I would say the bigger thing, you got it. The bigger thing would be we wouldn't know in advance um what what the carrier status would be. So if we say, okay, this is the egg donor we want to use, but we haven't done the carrier screening yet, it usually takes about two to three weeks to get results back. then we also have to test the sperm source, right? That takes about two to three weeks. And so if we were trying to do a fresh cycle, it may change timing of what we do. And again, that depends on on the center. Some centers would say, okay, this genetic condition is more mild. We're okay to still proceed and get you pregnant. And other centers would say,
Speaker: if there's a match and there's this now known genetic risk factor, we're not going to go forward because we we don't feel comfortable getting you pregnant knowing what this genetic condition is and what it could lead to, such as like a shortened life expectancy with no treatment or therapy. Those would be things where where a fertility center may say, I don't feel comfortable getting you pregnant now knowing this genetic risk factor.
Speaker: Yeah, no, that makes a ton of sense. What does this screening not tell us? Many things. Let's be honest. and Many things. I feel like it's um it's it can be confusing sometimes when you wander into the world of genetics. i mean, obviously, as a genetic counselor, I'm a little bit biased, but I think genetics is fascinating and such a wonderful area. and Oh, 100%. It is like the coolest puzzle ever. I think so. i recognize not everyone agrees with me, but I think so. um But you know what we can screen for is really such a small snapshot of what is out there and what exists versus you know what we're not screening for. yeah so really what we what we see and what's recommended for when we're screening a donor, when we're trying to pick either an egg donor or a sperm donor, it's recommended that we do both genetic screening, but also a family history assessment.
Speaker: So we really want to talk to that donor and understand, you know, for three generations back, who's in your family? What does that family structure look like? Right? How many brothers and sisters, aunts and uncles? Were they healthy? Did they have any health concerns? Did they pass away at early ages, unknown causes? To really understand, is there anything else out there beyond just, you know, this kind of common, we'll call it carrier screening panel? looking for a few hundred conditions, it's not going to capture all of our risks for things like cancer or what we call dominant conditions. Carrier screening is really meant to look for recessive conditions, which is where both the male and female would have to be a carrier to have a chance to have an affected child, or X-linked, where just the female has to be a carrier and could pass that down.
Speaker: Autosomal dominant can impact males and females equally, but we just require one genetic change. And then there's a 50% risk to children. That's not part of carrier screening. So we're not routinely looking for these dominant conditions.
Speaker: We also aren't routinely looking for what we call multifactorial. conditions. So things like multiple sclerosis or diabetes, things like that are not included in routine genetic carrier screening, which is where having that family history can be super helpful to say, okay, beyond just this routine blood test that I can do for genetics,
Speaker: Here are some other things to consider that we know exist in the family that we know that maybe we may have an increased risk for being predisposed to, but there's really no way for us to test for those. Yeah. Yeah.
Speaker: That's a lot. How... How is the information actually used when intended parents or clinics are kind of making a decision as they move forward?
Speaker: Yeah, I think really the goal of this carrier screening that we do is to try and make sure that we are giving intended parents the best opportunity to say, hey, I want to maximize my chances for a healthy outcome. I don't want to be surprised by something.
Speaker: i don't want to, if I can, avoid you know having a child that may require lifelong interventions and treatments and therapies when we we could screen against that. So it's really meant to inform and give intended parents and families the opportunity to choose the you know maximum chance for a healthy outcome. So if we find out that an egg donor is a carrier for cystic fibrosis, for example, and then we find out that the sperm source is also a carrier for cystic fibrosis, we now know that that combination is going to have a 25% chance to have cystic fibrosis. And so we can have that conversation with the family of, hey, here's what this means, here's what this looks like. While there are treatments and therapies out there right now for certain genetic conditions, including cystic fibrosis, which is amazing, it still doesn't take away the fact that that would be an individual with cystic fibrosis. And so now that those intended parents can have a thoughtful conversation about what does this look like, talk to their center, right, and decide,
Speaker: is this the best combination for us? right for For some kind conditions, um it would be, a yeah, this is not a good fit because this is a severe genetic condition. For other genetic conditions, they tend to be a little bit more mild, things like biotinidase deficiency, where ASRM says, hey, that center could make a decision on a case-by-case basis on whether or not we would allow that couple to proceed and get pregnant. But it allows the intended parents to, again, have that conversation of this is our risk, this is what's known. And ideally pick an egg donor and a sperm source that do not match up, do not carry the same things, do not have the same risk factors so that we know we're going forward with decreasing chances for some of these really kind of scary genetic conditions.
Speaker: We'll get right back to the show, but real quick, if you're dreaming of growing your family through egg donation or surrogacy, we'd love to help. At Egg Donor & Surrogate Solutions, we've spent 18 years guiding hopeful parents with compassion, expertise, and personal experience.
Speaker: Our team includes people who have been intended parents, surrogates, egg donors, and even nurses. So when we say we understand, we truly do. You can schedule a free 15 minute call with our team at create a happy family.com to get your questions answered and explore your next steps.
Speaker: You don't have to navigate this journey alone. We're here to walk it with you. All right, let's get back to the show. Yeah. Well, and also, I mean, even if it's not just, you know, discussing the outcome, there is just the higher risk of not, of of having a preterm or miscarriage delivery. So it's even an issue of just chance of of pregnancy, right?
Speaker: For some of the conditions, yes. um For some of them, not all. um that's you know When we look across what we see for live births, we definitely see way more of these what we call Mendelian or recessive genetic conditions versus some of our chromosomal conditions like Down syndrome or something like that.
Speaker: um you know, there's not necessarily an increased risk for miscarriage or loss for a lot of these. For some of them, there absolutely are. And there is actually a really interesting burgeoning area of medical literature and research about what we call lethal recessive conditions or these lethal conditions where it may actually be causing recurrent pregnancy loss. So we're looking into that, investigating that and learning lots more. But for a lot of these,
Speaker: we actually would never see anything on ultrasound and it wouldn't necessarily lead to um a loss in pregnancy. our Our first really kind of warning sign would be when we had symptoms after birth, if we didn't do carrier screening. So that's another really important factor about carrier screening is we can learn ahead of time, right? And and we can choose and select not to to proceed with that when we know there would be this risk factor out there.
Speaker: Yeah. What would you say are maybe some of the biggest misconceptions when it does come to a carrier screening? Yeah, I, oof.
Speaker: There's a lot out there. um I would say one of the biggest ones that I've heard in clinic and from patients is, okay, well, if we don't match up, everything's totally fine, right? Like if if there's you know negative for the egg donor and negative for the sperm source, then it's totally fine, healthy outcome. And and no, that's unfortunately not our answer. But I feel like you know the negative and the non-matching can unfortunately sometimes lead to this false reassurance. And like we talked about earlier, there's a whole world of things that we're not screening for with that, that we just can't comment on or can't rule out. So we unfortunately say, oh, no, it doesn't doesn't mean everything. Also with the carrier screening itself, it is screening. so it's So it's so helpful. It's such a great tool. It's really good. And it has really high detection rates, but it is still just screening. And in rare cases, it's going to miss something.
Speaker: right so you'll you'll occasionally hear about those cases you know in the news or in patient stories or blogs where they're like hey it was negative but somehow i still had a child that had this condition and this was a really terrible experience um and that's you know can be for a couple of different reasons one is the the screening is still evolving our understanding of genetics is still evolving um we have what we call variant classification where when we look at the carrier screening, we say, okay, is someone positive? Meaning that they have a genetic change that we think would cause disease. Are they negative? Meaning we didn't see any genetic changes anywhere that would cause disease.
Speaker: Or do we have what we call a variant of unknown significance, which means we found a genetic change, but we don't know if it would cause disease or not. And currently those VUSs do not get reported out on carrier screening.
Speaker: Guidelines say that we should not notify or report those out. So the only thing that gets reported out on carrier screening is when we find that likely disease causing or pathogenic, meaning we found this genetic change and we think it's going to cause disease, that's what we notify patients and families about.
Speaker: Anything else does not get reported, but our, again, understanding of genetics is changing. And so what we understand to be VUS or this unknown change today could be totally different a year or two years from now.
Speaker: We may get more data, we may learn more about genetics and say, actually, that is disease causing. And if you would have had carrier screening two years later, you'd get a different result. You'd get a positive result. So it's a low, low, low, low low chance of that happening. Sure. It does happen occasionally. And so my only kind of cautionary tale that I give to families when I work with them in clinic is this is screening.
Speaker: You know, here's the chance. that you could still be a carrier for certain conditions. We have residual risk, we call it, especially if, you know, one, like let's say the egg donor's a carrier for cystic fibrosis, the sperm source is not, we could say, okay, here's the chance that we could have missed something, that you could still have a child with cystic fibrosis, that residual risk. But we know that overall carrier screening reduces risk dramatically, just we can never say never.
Speaker: Right. Is it worth a patient asking about those VUSs or is it just, no, it's not? No, it's definitely not because if you ask about a VUS, we...
Speaker: I should back it up and say, in most cases. In most cases. Yeah, course. Nothing is absolute. We operate in the gray. Yes. In most cases, no. um Because in most cases, if we find a VUS, what would we do with that? How would we change it? Because if we have you know one one source, the egg is a carrier, the sperm is not, but we find a VUS,
Speaker: it may ah never actually lead to disease, right? That VUS could be totally benign forever and always. And if that was our desired combination of egg donor and sperm, you know we we know that the greatest chance is if we proceed, it's probably okay. And and would we wanna open that can of worms or that Pandora's box? sure The only time it's really, and most labs won't actually give you VUS information unless you sign additional consent forms or request it And usually we want to have a clinical reason for it. It just kind of leads to this gray zone for families of what do I do now? Right? What do I do with this information of not really knowing? The only time in genetics we would request that VUS information is if we have someone who has disease in the family. So let's say we have a muscular dystrophy and we have a child in the family or, you know, a teenager in the family who has this and we've found one variant or one genetic change that's disease causing, but we haven't been able to find the other yet. We may ask for VUS unmasking, we call it, or we may say, hey, you know what, actually, I'd like to know about the variants of unknown significance. Because then sometimes if we find that variant of unknown significance or a second change, we can have a conversation with the laboratory or the genetics clinic and say, okay, we have someone who actually has disease they're presenting.
Speaker: They have these two genetic changes. One has been documented and known to cause disease. The other, we weren't sure, but now that we do know that this person actually is symptomatic, it probably is disease causing and should we reclassify it? That's really the only time we may request a VUS or it's helpful.
Speaker: Okay. All of this is, I should say, for carrier screening in the setting of other genetic testing, like hereditary cancer testing, totally different. But for carrier screening, these are the rules for for pathogenic variant and benign.
Speaker: Yeah. I was about to ask. Okay. So when you when you say hereditary, I was about to ask about, um and it's purely selfish on my part, about the BRCA gene. My husband has a family history of it.
Speaker: His father was tested as an adult when we found out I was pregnant with a girl. He's a carrier. So then my husband got tested for it and he's not.
Speaker: Yeah. So with hereditary cancer testing, it's totally different because typically we're doing hereditary cancer testing when we have a known family history. So there's an indication or we have an individual who's had cancer. And in that situation, it is actually helpful to know about these variants of unknown significance because we are evaluating those variants constantly in laboratories and they may get reclassified more frequently. And it would benefit us to tell that adult individual that we've done the testing for who we know has a risk factor already, hey, this has been either downgraded to benign, we know this is not the the disease cause in the family or
Speaker: This has been upgraded. We now actually think this is disease causing. We need to change your medical management based on this. so We do report out those VUSs for hereditary cancer. um you did say one thing that actually is a very common misconception in genetics. So, oh okay yeah, with um these hereditary cancer genes, especially like the BRCA1 and BRCA2 gene, um we actually want to test males and females. So, so many people are like, oh my gosh, like I'm having a daughter or my sister or, you know, a male who had a cancer is like, I need to talk to my daughters, both males and females, like, as you know, since your husband's father can have risks. So if we do, have someone in the family who is a carrier or has that genetic change, we actually want to test males and females because there's different cancer risks for each. So like males can have a risk, for example, of male breast cancer, right prostate cancer. We do not want to skip on testing them.
Speaker: So many patients just hear that BRCA 1 and 2 and think breast and ovarian, and then really just focus on females in the family. And unfortunately, male males don't always proceed with the testing. So we really like to clarify, hey, no, it's everybody. If there's a risk, if we identify a change, everybody who's at risk needs to be tested.
Speaker: Yeah, yeah, for sure. No, that's so um that's so interesting and that it is so helpful because, I mean, yes, for egg donation, yeah Obviously one of the you know screening factors is you you can't really, you you can't have a history of of cancer in your family as as part of that. And this is an obvious reason why, but that doesn't mean that the the sperm, if it's the intended father, doesn't have that history. And so that is still important and and part of that process. yeah So you always want to choose somewhere that's doing that three generation screening, I think, to get as much information as possible. Because even if we're not testing for it, right, that we know,
Speaker: what does the family structure look like? Who's there? And then someone has thoughtfully asked, is there anybody else in the family, right? Is there significant heart disease? Is there significant cancer that we should be thinking of? Just so that we know as much information as possible to, again, have the healthiest outcomes possible for future children.
Speaker: Yeah. Okay. Can you walk us through that testing process from sample to results in a way that we don't have to have your beautiful medical background?
Speaker: Everybody's a little bit different in how they approach it. yeah But typically what happens is we would do what we call a pretest consent first, right? We would talk to the individual about carrier screening, just what is this, right? This is genetic testing that's looking at your genetic material to see if you could be a carrier for what we call recessive or X-linked conditions, right? Going through the inheritance briefly of recessive, meaning both male and female have to be a carrier to have a chance to have a gen-infected child.
Speaker: X-linked only female has to be a carrier to have a chance to have an affected child. It can be done with a blood draw or saliva sample. um So wow I know saliva is a very exciting option for a lot of patients. It used to always crack me up when patients were like, well, if I can avoid a needle, I'm like, oh, this whole process is to lot of needles actually. So like, We'll just we'll get that out of the way. But saliva sometimes can feel nice or convenient, right? If the clinic is farther away and you're like, oh, I don't want to drive like an hour or two hours.
Speaker: Saliva is great. You can mail it to the house and and get that sent in. So we can do this testing via blood or saliva. Saliva is just as accurate as long as we have enough DNA. That's another common question patients ask is if I do...
Speaker: this testing with saliva instead of blood, is it less accurate? And the answer is no. As long as we get enough DNA from whichever source we get, totally the same, totally accurate.
Speaker: um So blood or saliva, it typically takes about two to three weeks to get results back, depending on which laboratory you're working with and depending on which size panel has been ordered.
Speaker: It's like that smaller panel of like less than 10 genes. Usually it comes back a little quicker because there's a little bit less to look for. If we're looking for these big panels of like 400 to 800 genes, may take an extra couple of days because there's a few more conditions to sort through and things to look for. But it typically takes about two to three weeks. Once the results come back, again, it would depend on the center.
Speaker: Some centers will call the individual and say, okay, let's walk through your results together. um Some will have them meet with a third party genetic counselor, which is job security for people like myself, which is great because we love talking through these results.
Speaker: um When some will just say, hey, it's it's in your portal. If you have questions, let me know. So it's a little bit different how everybody handles that for results disclosure. I would say for anyone going through the process, that's important to ask about. is how will I get this information back? right How will we talk about it? And if I have more questions, who do I have access to? Who do I have access to talk to? um Again, personally, I think it's so important to have access to a genetic counselor just because our job is to talk to individuals about their results, break things, complex things down in a way that feels digestible, understandable, and useful, and answer any questions about, you kind of now what?
Speaker: Now that I have this information, what does it mean? What are those residual risks? What can we move forward with? What does what does this look like? um And then once we have the results, we kind of go from there with decision-making of,
Speaker: is this a good match between egg and sperm or no, there's actually going to be a risk for a genetic condition and it's not a good match. Let's let's go back to the drawing board and try and select again. Yeah, yeah.
Speaker: You, I mean, you've already highlighted how just the genetic counseling aspect of this, especially, you know, post the lab is so important. um And obviously this part can bring, it does bring so much anxiety. How do you help patients navigate that, especially as you're kind of going over those results?
Speaker: Yeah, I think, um you know, checking in a lot of just yeah first starting with how are you and what's your understanding, right? Just patients where they're at. Some patients will come in and have a really good understanding of of what the carrier screening is. And other patients are like, I don't know, I had my blood drawn or I don't know, I just I was told that this is a good idea or I should do this. And so first understanding where is the patient at and let me meet you where you're at and then have a conversation. And then also checking in to make sure we've got understanding. So some patients are going to understand and pick up right away. Others like myself in a medical scenario, when you're getting information, maybe a little bit more anxious and it may like,
Speaker: say, okay, hold on, pause, go through that one more time because this does feel anxiety inducing and I want to hear it again. and so really just making sure that we are using language that makes sense to the patient and that we're meeting them where they're at, their understanding. um If someone is early in the process and feeling really overwhelmed, what actually matters most for them to understand about this genetic screening?
Speaker: Yeah. I think um it's really, really easy to get overwhelmed with this process in general, right? There's There's so many steps, there's so many moving pieces, parts, and this is just one small aspect of it. um But this small aspect of it is really meant to be informative. It's really meant to help someone who's going through this process understand what is my risk factor? And is this the best match for me? Is this the best possible choice to have a healthy outcome? Right? Because I think, you know, most most of us who go through this process or most people who go through this process think,
Speaker: the goal is to have a family and to build a family. And if we could screen for something that would prevent, you know um unfortunately, a shortened life expectancy that we wouldn't know about or prevent an individual who's going to have significant complications and requirements for medical intervention that would change things long term, that would be really helpful to know about. right And it's really helpful for those families to say, OK, this is not going to be the best match because I don't want to deal with, you know, this, this childhood cancer risk or whichever condition it is that they're looking for. So I think not getting bogged down in the leads, right? do Don't, don't pull up the panel and read all like 500 genetic conditions and Google them. Sure. There's no need. Don't do that. um I used to tell my patients, you know, here's kind of just generally what we're looking for.
Speaker: do now get Dr. Google right now, if we find something, we will talk about it in great detail then. But the greatest chance is that we're not going to have a match, we're not going to find something and it's going to be totally fine. And then you do not ever need to be an expert in a lot of these really scary things. So I would say just understanding that it's a powerful and helpful tool meant to try and give us the best and healthiest outcome possible.
Speaker: Do not get bogged down. Do not Google everything in detail. Really rely on your providers um and and access to resources like genetic counselors. If you have questions, sneak out someone to give you answers and and help talk through that versus, I know like AI can be very tempting using AI or Google to to really like look into resources. each of these things in great detail. um They don't think it's super helpful to say like, okay, well, would I want to know about each of these genetic conditions? Yeah. Your question is, you know, would you want to know if there was going to be something that would cause early loss of life that there's nothing we could do about? And for most intended parents, the answer is yes, I would want to know that. And that's really the point of this screening.
Speaker: Yeah. Where do you see getting people getting caught in the details and missing the bigger picture? Yeah. um That's a good question. I think um the first, like I mentioned, is wanting to know every single thing that's going to be screened for. Sure. um you know there's Like I said, in this in this process, there's so many moving pieces, parts, and there's so much information. that patients and and families sort through that it can feel like you have to be your own expert um and you want all of the details and information. And what I've seen from patients and families is that like wanting to know, okay, well, like tell me everything that's going to be tested for.
Speaker: Well, we would be here for three weeks. So. We can't do that. um Or just wanting to know about each of these conditions in extreme detail or or thought, you know, before we even know if there's a risk factor, that's a detail we don't need to get bogged down in. I think, again, keeping it more broad and bigger picture of here's kind of generally what we're looking for.
Speaker: and here's what we might learn about your risk and risk to pregnancy. And just kind of keeping it broad of would I want that information? Yes or no. How does this information benefit an egg donor?
Speaker: Let's say, you know, we go through this and you do find out the intended parents that you were originally matched with. It's not a good fit per se, but maybe it's just for that one particular family. How does this, you know, kind of help just an egg donor aside from being a donor?
Speaker: Yeah. Well, there, there are certain genetic conditions. I think it would be important for anyone going through the egg donation process to know and understand There are certain conditions that we might find where you would be excluded from being a donor, where we would say, hey, this is actually a severe enough genetic condition that you carry um that that we would exclude you from donation. It doesn't mean that you can't have children of your own one day. if you want, right? Because there are other opportunities and options like that egg donor could go through the fertility process herself one day and use PGTM, right, to screen embryos for that condition and select against those. So there there are options for that, but important for these individuals to know, hey, ah a clinic or or a donor bank may say, actually, no, now Like, thank you so much for your interest, but we're not going to use your eggs. yeah um And I think also just understanding that it could, again, and inform them about their own risks. Like if we found one of these genetic conditions with what we call these carrier manifestations, like ATM, where they could have some symptoms saying, hey, by the way, we're doing this so that intended families and so we have information on risks and we can choose the best sperm to match up with the SAG to have the healthiest outcome, but we may inadvertently learn some information about your health where you actually need to change your plan of care with your doctor.
Speaker: and follow up differently. I want to go back just to the misconception aspect of this, because I think, and I don't think you see it much anymore. Maybe I just live under a rock, but I feel like when people think genetic screening, they almost think um like, okay, I'm going pull out blonde hair. I'm going pull out blue eyes. going pull out, you know, just all of these things. And they almost think, I hate to use the word designer baby, but I feel like that's what a lot of people think.
Speaker: Can you just dispel that please? Yeah. I would love to spell that. Yeah, but there's no designer babies happening. but but We are very much not looking for that on this carrier screening or any any of the screening we're doing for egg donors, sperm donors, or even, you know, patients going through this process. That's not something we're looking for. We can't tell if your kiddo is going to the Olympics or going to win a Nobel Peace Prize, like with IQ levels, things like that. can't determine eye color, hair color, any of that. It's really meant for what we call Mendelian diseases. So if you go back to thinking through like those fun little punnet squares that you did with the big A and little a, like known concrete diseases that are caused by these clear inheritance patterns of, okay, you know, if both egg and sperm carry it, there's a 25% risk.
Speaker: If egg carries it, there could be a 50% risk, things like that. So it's concrete, very well understood, well documented genetic diseases that we know the inheritance pattern for. And and we know what that would look like.
Speaker: We unfortunately are not, or fortunately, are not at a spot where someone could come in and say, hey, i would like, you know, a girl who's going to be model height at five foot 11 and have the muscle composition of an olympic athlete right but we'll also go and win the nobel peace prize exactly ah not not happening no i love it if someone is listening right now and they're in this they're just this part of the process again it can feel so intimidating What words of advice, wisdom, just words of peace that you would want to give to them?
Speaker: Yeah, that's a really good question. i think. um Knowing that first and foremost, yes, it can feel overwhelming and I totally get that the whole process can feel really overwhelming, yeah um but really rely on your resources, right? Nurses in your clinic, providers, any genetic counselor that you have access to. And knowing that this carrier screening is recommended for a reason. It's recommended because again, the goal is to improve chances for a healthy outcome, right? We really want to maximize the chances for that all intended parents going through this process. we are getting to that finish line and having the healthiest possible outcome.
Speaker: That's the goal of this screening. And every laboratory that's doing the screening also has that same goal, right? Of, hey, this is information that we are passionate about that families should have access to and and should have access to so that they can decide what's best for them and what they would want to do with this. So really using this as a tool to try and maximize chances for a healthy outcome versus getting bogged down by, oh my gosh, there are hundreds of different, you know, genetic conditions and it feels like a lot of information to receive. It's not a little bit of information to receive, but it's it's more about the end goal, which is really want to improve those chances for for that family.
Speaker: Yeah, no, I mean, the whole thing is just is so fascinating and amazing. um Seriously, Sarah, your job is so cool. Oh my gosh, I'm obsessed. Thank you so much for making something that can feel so complicated and puzzly and, you know, just overwhelming, um feel much more manageable and understanding. I have one last question for you. um And it's a fun one. Um, as you have seen me this entire time, just sipping on my lovely cup of coffee, I may be slightly dependent on her, but I always love to ask the question, what has filled your cup today? Literally or figuratively, what has been the thing that has filled your cup?
Speaker: Oh my gosh. Um, Like just in general in life or? general, in life. Oh my gosh. Oh, that's a hard question. I wasn't ready for that.
Speaker: I mean, I think one of the things that I just like probably sounds very cheesy, but I think one of the things that I do really like as a genetic counselor is knowing that there are additional resources and alternative resources out there. Like even, you know, this podcast, having somewhere you can send patients that they can hear from individuals who have gone through something similar to them or individuals and people that are working in the field as healthcare professionals to just say, Hey, I want to hear from a different source, or, you know, I don't want to read something on Google or even beyond, you know, a maybe support group that my healthcare care provider sent me to just ah other areas to get information and understand. i think that it's really cool. Um, how many things are out there and how we're broadening horizons. you know, when i graduated from grad school a few years ago, there were not all of these really cool places to send patients and all of these additional resources. And so i think it's really exciting to see how much is evolving and how many tools are out there now that didn't used to exist.
Speaker: No, I agree. i agree. And thank you so much for just being another resource in that way. Truly, it is just an absolute honor to be able to talk to you. And like I said, just break something down like this. And your passion is so contagious. And I know this is going to what you do make such a difference. And I know this is just going to be such a benefit to others. So thank you. Well, thank you for having me. i appreciate it.
