Episode Transcript
[00:00:00] Speaker A: When it comes to building a family, whether naturally or with the help of modern fertility care, genetics plays a much.
[00:00:06] Speaker B: Bigger role than most people realize.
[00:00:08] Speaker A: From the moment you begin thinking about egg or sperm quality, embryo health, or even your future child's potential risks, genetics is in the mix. But here's the thing. Most of us were never really taught what any of it means. Terms like carrier screening, pgt, or chromosomal abnormalities can feel confusing or. Or even overwhelming.
And yet these are the kinds of things that can impact big decisions, like choosing a donor, deciding whether to move forward with an embryo transfer, or understanding what questions to ask your clinic or your doctor.
Welcome to the Fertility Cafe, where we explore the beautiful complexity of modern family building. I'm your host, Eloise Drain, and this is a space for honest conversations about surrogacy, egg donation, and the journey to parenthood. With ecst, expert insights and real stories, we're here to guide you through the medical, legal, and emotional aspects of third party family building.
We believe that love has no limits, and neither should parenthood.
Welcome back to Fertility Cafe. I'm your host, Eloise Drain.
Genetics touches nearly every part of the family building process. Whether you're using your own genetic material or someone else's, from screening for inherited conditions to understanding embryo testing, it can be a lot to take in, and often we're left with more questions than answers.
That's why I'm sitting down with Gina Davis today.
Gina is a genetic counselor who's been working in reproductive medicine for over 20 years.
Along the way, she's also become an IVF patient and later a known embryo donor, an experience that shaped how she sees this work and the families it impacts.
She spent nearly a decade at UCSF's Reproductive Genetics Program before founding Advocate Genetics, a nationwide virtual counseling service supporting fertility patients, donors, and embryo recipients.
She's also the co founder of Empower with Moxie, a program focused on education, sex support, and matching in embryo donation. Gina brings both clinical insight and real life experience to the conversation.
And today, she's helping us explore what intended parents, donors, and professionals really need to understand when it comes to genetics.
All right, Gina, thank you for joining me. I appreciate it.
[00:02:42] Speaker C: Oh, it's always fun.
Happy to be here.
[00:02:46] Speaker B: Thank you so much. Okay, first, what led you into the world of genetics and reproductive health? Because, you know, that's not normally what you raise your hand when you're young and say, this is what I want to do with my life.
[00:02:58] Speaker C: Actually, it's funny because when I was a kid, they asked me when I was in third grade, what I wanted to do. And I wrote laborer because I thought that was what a labor and delivery doctor was called.
My teacher was like, maybe we could aim a little higher.
I was just a circle. It was like a multiple choice kind of thing. Yeah. Anyway. But I've always been fascinated by babies. Honestly, I've always been fascinated by just how we come into the world. I thought I wanted to be a doctor. And then once I got into undergrad and started really thinking through and shadowing doctors and stuff, I was like, I don't think this is for me. I don't like touching people in this way.
I like talking about the concepts. I like helping people, but I don't. It was not the actual physical stuff that I enjoyed. So I kind of found my way into. I was a pre med major or biology, but kind of aiming towards pre med. And then once I was in a genetics class, I heard about genetic counseling and the genetic class, it was like talking about embryo testing. And I thought, that's wild.
Oh, my gosh. Like, I want to be the person that helps people understand that, because it seems so interesting that we could do this. But that was back in, gosh, 1998 or 9, when I learned about it, and that seemed like science fiction.
Now it's like every day we talk about it. And, yeah, I just thought it was fascinating. I thought, that is an area I think I'll never be bored by.
I'm not.
[00:04:24] Speaker B: So good choice. And then fast forward all these years, and then you have your own IVF journey that kind of shaped the way you approach things today.
[00:04:36] Speaker C: Yeah. Yeah. I mean, and at the time when I was at. When I was first thinking about it, I was, like, really fascinated by the fertility world. I immediately was like, I want to be a genetic counselor that goes into fertility. I just thought that was so fascinating. Everything about it seemed fascinating. But then once I became a genetic counselor, was working at a fertility center. I was working at UCSF at the time.
I was newly married. We weren't trying for very. What? For very long?
Well, that's not true. We started trying, and then I was like, oh, my gosh. Maybe I am a fertility patient. For the longest time, I thought it was in my head. And I kept telling myself, like, don't believe every. You know, don't. Don't put yourself into this box right away. But turns out that I had a fertility issue, too. And so my husband and I went through IVF to have our kids. And yes, it taught me so much about the Patient experience. And I think I'm always been the kind of person that likes to learn things from my life. So to me I was like, this is meant to happen. I am meant to have this experience and learn firsthand. And it was really, I, I, I mean, most of the time I saw it as a positive thing that I was going through it, but there are a lot of things on the back end that I learned. You know, we made more embryos than we needed, and I ended up becoming an embryo donor.
And that whole experience of like, sharing genetics and what does this mean? And, and how do we, what is, you know, how do we make families? What are families like really? The philosophical foundations and like the origin stories we all have and how we talk about ourselves. It started to become much more, I don't know, it made me really stop and think. And it made me also think about my work as a genetic counselor and how do I really help other genetic counselors and how do I help other people in medicine to see the patient's perspective on how big and profound these questions are and be with them in those moments?
[00:06:32] Speaker B: Yeah, for sure. So is that how or why you decided to start Advocate Genetics and kind of seeing where a gap was that you were trying to fill?
[00:06:43] Speaker C: Yeah, I mean, the gap was so it was part necessity at some, at some level, I had had my son and it was just impossible to commute to ucsf, but, but forever I had been thinking, why don't we have this role everywhere patients go for fertility treatment? At the time I was really only thinking, I'm going to be a solo provider at Advocate Genetics and I'm just going to work with clinics that I know and I'm going to be available in any state that I'm licensed in. It was really a simple goal at first, was just to be a solo provider.
But I also saw there was a lot of other gaps. Number one, there just were not, there was not enough of me. Like, I was very busy from the get go.
But also I was starting to see, like, gosh, I can't deliver my best experience with me every single day and be this busy the rest of my life. I need to find a way to avoid burnout and pass on what I know to other genetic counselors and pass on the, I like some of the model that I had created. I needed to find a way to, to pass that on in a different way. So Advocate Genetics, like, we started growing and so now we have the entire team of genetic counselors and genetic counseling assistants to help people and In a way that we don't. We're not going to burn out, that we're going to always be able to be there and available for patients.
[00:08:06] Speaker B: So who typically are your patients, though?
[00:08:08] Speaker A: Who do you support?
[00:08:09] Speaker B: Is it intended parents? Is it donors? Is it clinic? Is it everybody? Like, what does that look like?
[00:08:15] Speaker C: It's diverse. I would say that the vast majority are fertility patients or people that are thinking about donating their eggs, embryos, or sperm. So we do work with a lot of egg donors for genetic egg donors and sperm donors and embryo donors for genetic risk assessments and counseling around it.
And so usually we're contracting with like the, the donor agency or the, or the clinic in those cases.
But occasionally somebody has a direct donation and they ask that we do a donor genetic risk assessment for their donor. And, but we, but we also work with the intended parents. So if there's somebody working with an E donor, sperm donor or embryo donor, we also work with the intended parents and go through what we call a match consultation to talk about what do we know about the donors, genetics, their family history, genetic testing results, all the things that kind of can play a role in genetic risk. We'll talk to the intended parents to make sure that they're comfortable with all the information that they have and that they have a solid plan for any testing that they want to do in pregnancy or before pregnancy.
[00:09:20] Speaker B: So can you explain that a little bit like genetic testing versus speaking to a geneticist that kind of explains how that mapping and how all of that interconnects.
[00:09:35] Speaker C: Yeah, well, I'll clarify one thing first, which is sometimes people hear the word geneticist and genetic counselor are not sure of the difference. So geneticists usually are people that are trained in medical genetics or doctors that go and get additional training in, in genetics. They're typically people that you're seeing when there's a really complex issue.
So genetics. I don't really, I don't think of myself as a geneticist. I think of myself as a genetic counselor. But genetic testing itself is like the actual testing. So maybe it's a saliva sample, maybe it's a blood sample, what have you. And you're looking for specific genetic traits. A lot of times genetic testing can be very generic and we all could consider it like before pregnancy, sometimes it's carrier screening. This is what we're looking for if to see if us and our reproductive partner are carriers of the same conditions.
Most of these are recessive conditions. So we can all be hidden carriers of things. We all are hidden carriers of things. But if you and your reproductive partner, if you're, if you're the egg provider and you have got a reproductive partner and you're both carriers of the same thing and you pass it on to an embryo, then there's, you know, there's, there's a chance that that could be a serious condition.
So there is a host of tests that we can do, kind of more common ones that are recessive in nature that we can look for to see if two people in a reproductive partnership are carriers of the same thing or similar things that can interact and cause a very significant disease in a baby. There's also a few that are just X linked. So it's more important for the female, the egg provider, essentially, to have testing. I don't want to get into the nuances of that. It's not really that important for this overarching conversation. But I'll say that most of the carrier screening panels that are out there, you do them on one partner to start and then the other partner, or both at the same time, and you just get a better accurate risk prediction. But they're limited. They're not like they're not testing for everything under the sun. Now if you actually have a specific genetic issue and you're looking at your family history and saying, I have this specific thing, talking to a genetic counselor is really important or somebody that understands genetics. So it may be a geneticist, if you're really have a very complex medical issue and you're meeting with a geneticist. But either one of those people can likely help point you in the right direction to see is there specific testing for me. So it's not going to be necessarily included on those carrier screening panels that are just much more generic. They're just for everybody that are thinking about reproductive, you know, risks.
But there might be something very specific that you can do. And it could be, as far as you kind of mentioned, genetic mapping. There are a lot of advanced tools now where we might be even doing something like whole genome sequencing, where we're looking at every letter along the length of all the genes. It's pretty rare, though. We don't have a lot of. We're not doing that across the board yet because there's so much data and it's like trying to unpack all that for every single person if there's no health conditions. Doesn't make a lot of sense yet. Maybe in the future, you know, we have a lot of technologies now that are AI and stuff will be able to unpack a lot of that data.
But I would say there's kind of buckets of genetic testing right now. There's carrier screening that's just super generic, looking for a host of conditions that again, are recessive in nature.
Now, it's not everything under the sun, so you could be missing something that's, That's a real risk. But everybody has to kind of, we, the, the labs create these panels to be the most, to make the most sense based on how severe the conditions are, how common they are, that kind of thing.
And you have some options about, like what kind of panel you want, but that would be the most, the most typical one we see. But then other things are like, based on your family history and based on what, what's in your family, what are your risks? Is there some specific genetic testing you might want to do?
[00:13:23] Speaker B: So is this something that they would be doing just if they're using their own genetic materials, their eggs or sperm, or is it where most likely they would only be doing it if they were working with an egg donor or a sperm donor or even getting embryo donation? Like just trying to get people to understand the basic role of gen when it comes to fertility treatment and when and how and all of the specifics.
[00:13:54] Speaker C: Yeah, yeah, yeah. So, yeah, it's very common to do it when you're using your own eggs and sperm. It's also very, very common to do when you're working with an egg donor and a sperm donor or an embryo donor. So it's like anytime you switch the genetics, you have to rethink that question. I, I was in a case once where the intended parents were initially using the, the, the woman's eggs and the husband's sperm, and they, the they. The husband was identified as an SMA carrier. Very serious condition. But the woman was not care. Not a carrier of it. So they just moved on. And this was lots of years ago, before SMA was common on the panels.
But he knew.
And then they moved to egg donor and just didn't think about it. And it wasn't brought up because it wasn't part of the genetic testing platform and it wasn't something. And it.
They never came to me. They didn't come to me, but they went to one of my colleagues that was a mental health professional, and she was like, wait a second, isn't that a recessive thing? Doesn't that mean we should probably test egg donor? And she herself was like, hey, she stopped me in the hallway. Hey, we have this new situation.
Thank goodness she knew her genetics because the donor was a carrier and she stopped these people from having probably a world of heartache over having, you know, they identified it early, could choose a different egg donor. It's not the worst thing in the world to have a donor that's a carrier or something, but you just want to see, do we have the other. Is the other reproductive partner a carrier for the same thing or similar things that can interact in that way? And it's totally fine to work with a carrier for various genetic diseases as long as you know what your risks are on the other side. And there's a lot of, we all are carriers of things. So I just don't, I think it's just important to understand, like if we switch, if we switch genetic contributors, let's rethink this and make sure that we've look through the pieces. And that's why we do match consultations and advocate is that we, we, you know, we'll look it through the, through the information we have for the donor and we'll look through the information we have for the other reproductive partner that's going to be providing their genetic material. And we'll say, do we have, like, is everything good to go here? Have we checked on the same panels? Is there some red flag that we, that we might have missed or somebody else might have missed?
And then we also look at the family histories for family histories. It's not just about carrier screening. Family history outside of carrier screening also plays a role that, you know, even if it's not something that we have a specific genetic test for or we didn't have it on the carrier screening panel, there's lots of stuff that have a genetic basis or somewhat of a genetic basis, some environmental basis. And we just want to explain it to people so they understand and they can actively take part in our child's medical management down the line that they can know this family history, share it with the child's pediatrician, and it can impact, you know, their medical decision making down the line in a way that's really optimizing their health.
[00:16:44] Speaker B: Well, and I think too, at this point, the majority of donor programs, whether it's bank or fresh donors, sperm donor, whatever, majority of them are now doing genetic screening on the donor.
So majority of intended parents are coming in at least with some kind of understanding of what that donor, you know, may have as far as genetics. But is it also where you can have the genetic testing and not the mapping and just not have maybe a full picture?
[00:17:22] Speaker C: Ah, I think I know what you're talking about when you talk about mapping Now, I think I was thinking about something else, but I think you're talking about our pedigrees, right? Our family trees that we create. Yeah. Okay. So, yeah, you can. You really need to have both pieces.
They are. I think they are both incredibly important.
Carrier screening identifies sort of hidden risks.
The family tree that genetic counselors will do in our genetic risk assessments with the donors is where we go through their family medical history and we draw out a family tree and we talk about each individual and we're looking for patterns. We're looking for specific, specific things that we know are featured with genetic syndromes. They probably won't come up on that recessive carrier screening because they have different kinds of genetic contributions. Contribute contributions. Apologize things like, you know, you've got. You might have heard of BRCA or breast cancer. Breast cancer gene. Essentially, we're looking for, you know, substantial family histories that suggest an increased genetic risk for, like, more dominant things.
And we all have things. I'm never. I'm never trying to look out and say, oh my gosh, like, let's try, just try to find the healthiest donor, because she doesn't exist. There's no family history. That's perfect. It's about understanding what the impacts of a family history are in terms of your child's medical management. So that if you see something and it concerns you, you can understand what is the actual chance of that piece and what can we do about it? Because again, like many of these things, we've come a long way. And now if we know about a genetic risk, we can do a lot of things. We can optimize our child's life. Our child can optimize their life throughout their, you know, their whole adult lifespan and say, okay, I know I have this family history, so probably should check for this thing. Their doctor will take that information and use it to, you know, use for their algorithms to make sure that they're under the right screening platforms and that they take action when they need to.
[00:19:17] Speaker B: What's something most people misunderstand or overlook when it comes to carrier screening?
[00:19:25] Speaker C: Well, I think sometimes. I think sometimes people see report and they're just totally freaked out by it. They don't. It's. It also off. It oftentimes will spell out some horrible disease in their minds, like, oh, this sounds like a horrible disease. The risks are probably really low because if you have the other partner screen and they're negative, they're incredibly low. It's never zero because the reason it's never zero is because there's Always like these, what we call residual risk. Can we. Do we know everything about this gene? Could there be other things that could pop up? But we give you a residual risk, and generally it's like, okay, we made you hypersensitive about this one thing, but the risk is really, really, really low. It's like, you know, and I think that's what I hear a lot, is that people just don't know what this means. And I mean, now with Google and everything, people can oftentimes, you know, get more information, but if they aren't getting that in the. In the same context and have professional advice, sometimes they are thinking it's much more serious than it really is.
So that's one thing that I think I see another thing. Sometimes people think, well, I did. She did carrier screening. The donor did carrier screening. Everything looked great. So we're fine. Everything's fine. Well, there's limitations to technology. We do not have every single. There's, you know, we have 20,000 genes. Like, we're not screening 20,000 genes. We're screening a handful, maybe a few hundred, and that's helpful, but it's not everything. And so we can't say we have a clean genetic picture, because we can't. We're human. We're all human, and there's always going to be something. And we. We have to go into parenthood kind of knowing that there still could be some surprises, that somebody could have a health issue.
[00:21:09] Speaker B: Mm.
What are some of the biggest gaps you think or have you seen in how genetics is handled in fertility care? Because, again, kind of to your point, you know, you hear this one thing you have, you're a carrier of this. And now everybody is freaking out and is just like, oh, my God, I can't, you know, work with this person because she's a carrier of. Carrier of whatever. And so, you know, we can't do that.
[00:21:36] Speaker C: Yeah, I. I have seen a lot of gaps in the sense that there's not a lot of genetics. There's not necessarily a genetics professional on staff at a fertility clinic. And when that happens, doctors can say, oh, we can't use those embryos. We can't use those eggs. We can't. Oh, that one's not going to work. And it's like, sometimes it's a super mild issue. I actually had a case just this week where embryos were going to be like, the embryos were at risk for hemochromatosis, which is.
It's a condition that causes iron overload and iron overload. If you don't know about it can cause organ damage. So 50 years ago, when we didn't know what was causing iron overload or we didn't know what was the iron overload was there. People were going through organ damage and, you know, having early, you know, problems with their organs. But now we know about it, we also know the genetic basis of it. Super, super common. And it really is easily treatable. All you need to do is a blood draw. Like, if your iron levels get too high, then you need to get routine phlebotomy. You have to get your blood drawn. Every once in a while, they throw out the blood. I mean, like, instead of getting your blood drawn and sending it to a lab, they get. Take the blood and throw it out. Your iron levels come down. So it's a treatable condition. You kind of like, there's not really a risk. And these days, so many people are found to be carriers of it, and they're like, oh, that's helpful information for my child. But sometimes the clinics are just like, oh, oh my gosh, there's this risk. And oh, we can't use these. We can't use these embryos. And it's like, well, would we even do genetic testing on these embryos for this condition that is completely treatable in adulthood? Like, there's not. It's not one of those conditions that's like, you know, there's nothing to do here.
And we have to ask ourselves, like, we don't want to get too vigilant. Like, we are human. We are not, you know, made on a. And made on a factory floor. There are things about us, but many of these things are just about optimizing our lives and knowing what the right. How, the way to. How to interpret it is all you need, essentially. So those are the gaps I see is that a lot of times clinics are making, sometimes making decisions without a genetic professional involved. And, you know, sometimes they. Sometimes the doctors have a little bit of more training and they. They're making great decisions, and they don't need a specific genetics professional involved. But I still think that having a genetics professional is super helpful to the patients because then they have the. Everything interpreted and made sense to them. We spent a lot of time in genetic counseling. We are trained in patient communication, talking to people through this, assessing their values, helping them make decisions that are right for them. So that's why we call it advocate genetics actually is because we're advocates for the patient's values, their needs, and we are not biased about this. We're not Telling them, oh, you can't use this, you can't do this. No, it's about like, hey, let's, let's talk about what your goals are. What are you, you know, do you have fears?
What have your experience has been with medical care? You know, what do you know about the genetics and like trying to understand their values so that we can help them make decisions that are in line with that.
[00:24:30] Speaker B: And they don't actually have to go wait for their fertility clinic in order to go and get this done.
[00:24:36] Speaker C: No. Yeah, they can self refer for genetic counseling and provide. If they have testing already done, they can share it with us and we can talk to them about what the results tell us. We can talk to them about what their choices might be. But they, you know, a lot of times clinics, I mean, yeah, basically anybody can self refer. They do not need their, their, their doctor to do it. But there are some specific treatment points where the doctor might say, hey, I think a genetic counselor would be useful here so you can understand what your options are.
[00:25:04] Speaker B: Yeah.
So let's talk about embryo testing, specifically PGT A. Can you explain to what it is in like in plain terms?
[00:25:14] Speaker C: Sure. So it's just looking for extra or missing chromosomes essentially. And we have, you know, it's mostly in the egg that these abnormalities occur. We're born with all our eggs. As women or as people that have eggs, we're born with all of them. And then they wait until the men bit, basically until puberty. And then they wait till that menstrual cycle to release those eggs. And so sometimes they get kind of stuck. And as we get older and we make, you know, as we're making our eggs, they, they, they have to go through the final maturation step. Sometimes they just don't do it properly. So we have a little bit. There's always a chance that you have an extra or missing chromosome because it didn't happen. The separation or the division didn't happen properly.
It can come from sperm too, but it's a little bit less common. So when you look at your embryos, humans are just not that, not super efficient. So sometimes we have these abnormal embryos. We have an abnormal egg or abnormal sperm that led to that embryo.
The PGTA is really looking for extra missing chromosomes. Is this particular embryo, does it have the wrong number of chromosomes? And wrong is probably not the right word. I mean it's not the typical number of chromosomes. So does this embryo have the typical number of chromosomes? There are some chromosomal conditions that can, you know, be Viable things like down syndrome is an extra copy of chromosome 21. And there are a few others that are viable, some more serious, typically more serious than down syndrome. But there's a lot of other things. Sometimes when you have an embryo that doesn't have the typical number of chromosomes, it can lead to a miscarriage or a failed transfer. So it's really about optimizing the chances of a healthy pregnancy. So testing embryo can help you to kind of like winnow down the decision making. If you have a pool of embryos, which ones do you prioritize? But the testing itself is not perfect. Sometimes they can make fault. There's false positives, sometimes there's false negatives. False negatives are pretty rare.
False positives are not that rare. And particularly, I think you're probably going to be curious about mosaicism. There's this other thing that happens is that that first cell that makes that that embryo, the thought was for years that it was a very easy process. You went that first cell that created the embryo and then that copied itself, divided into two. And those two cells copied themselves and divided into two. And so you'd have this progression. It was always exactly the same.
But what we've learned is that in early embryo development, it's so fast, there's a lot of things going on, is that maybe there's early errors that are in some of the cells that are not throughout the entire embryo. So if you're testing just a piece of the embryo, you may get what we call mosaic results, where you have some embryo, you have some cells from the embryo that are abnormal and some that are normal. When this, I mean, and we didn't actually have a lot of insight into this when PGT testing first came out. But the reason that we're seeing it more now is because the testing has gotten so high resolution.
So it's like, you know, going from like an old school to set television to like these huge wall size with these huge, you know, I don't know, the technology, OLED TVs or whatever. And you have all this high definition. You can see like blemishes on people's faces and stuff. Does it make a difference to us? Probably not. But now we know our newscaster, you know, has a blemish.
That's the kind of thing we're seeing with PGT is that we have high resolution. So we're seeing all these things and we're like, what does that mean? We see it's not quite exactly perfect. What does that mean?
What we've learned is that a lot of those embryos have maybe a cell line that kind of got a little bit out of control in the early part, but maybe the entire embryo still has a chance at developing.
So it's complicated.
We would consider these. Some of the things. This is a screening test. If you have a bunch of embryos and you can prioritize all your ones that look just a plus, look great, no concern, that's awesome. But if you're talking about just a few embryos and you get a mosaic result, it can really throw you for a. Throw you through the ringer because you're like, well, what do I do with this information?
And so we spend a lot of time looking at PGT results with people that have mosaic embryos that want to know, what do I do with this embryo? Does it still have a chance to become a healthy baby?
What are the chances? And we can go through all the details of those things with people based on the data that we have.
[00:29:39] Speaker B: So right now, I think a lot of clinics, I mean, clinics for the most part, recommend getting some form of testing for a lot of people, not for everybody, but a lot of them do recommend getting testing. But there's lately been some controversial issues with the testing or the results.
Do you have any thoughts on what's behind that shift?
[00:30:08] Speaker C: I think it's mostly interpretation. I think it depends on how you're seeing it. Are you looking to optimize the chance of pregnancy across a cohort of embryos? Like, sometimes, if you think about, from the clinician's perspective, they're like, I know how to get you into an optimal situation, but a patient is like, I want to use every last one of my embryos that might be viable, and I want to know all the details before I make those big black and white decisions. I think it's just perspective, and we do. I saw this coming. Like, I saw this. This. This controversial thing happening, and I was like, oh, yeah, that's a big deal. Because it's. We have different perspectives. The doctors are saying, I'm treating a whole bunch of people. And is this useful as a whole to my patients?
It could be. It is. It is in a lot of ways. But individually, we all come and we have, you know, we. We have, you know, our whole future on the line, and we might not have it in us to have another cycle. We might not have the finances or the mental, you know, ability to keep going or, you know, emotional reserves to keep going.
And so it can become a really. Can be a tenuous thing, is Somebody else making the decision about the viability of that embryo based on date, on science or data that is not as mature. Like we just didn't know as we didn't know what we didn't know back then, you know, and so it's like it's becoming, it's like, it's, it's like, you know, kind of 2020 vision. You're looking and you're going, okay, well, now we can see where, you know, some people might have thought the answers were more clear cut and they, they weren't clear cut. But maybe the doctor didn't know. Maybe the, the, you know, we just have to make the decisions we have to make as professionals based on the information we have. But I think it's, you know, testing. It's, it's gotta be values driven too. It's gotta be something that pat neck to do. I'm always hesitant if we're just testing everybody's embryos out the gates, because it can't always be, you know, a simple answer. You know, we. People need to make their decisions based on what they've got going on in their lives, what their values are, what they want to do with embryos that are. Don't have the typical number of chromosomes, all that stuff. It's really complicated. And so I'm always hesitant about just testing embryos and making decisions for patients. I want them to make the decision.
[00:32:25] Speaker B: Mm, yeah. I mean, I mean, what do you say to someone who's told all their embryos come back abnormal?
[00:32:33] Speaker C: I'd like to look at the report. Honestly, every single time that I hear that, I'm like, let me see that report. Did they report mosaicism?
Are there any mosaic embryos in here? What if we, if we have mosaic embryos, what are, what are we looking at? Some of them have a lower likelihood of being a problem, and so you might want to consider transferring those. If it's truly a bunch abnormal and we're looking at it and it's like, oh, like, let me see the types of abnormalities we're seeing. Is that something that's in line with, you know, just an age related thing? And is this something where you really do maybe want to start considering moving to egg donor? Or is it. Do we see like a repeat pattern that suggests that there's somebody has. This is less. This less common. But if somebody has a translocation, a piece of a chromosome that shifted to a different position, we can sometimes be healthy and be translocation carriers. Many of you know, many times translocation carriers are healthy, but they can lead to repeat kind of situations, repeat problems in the embryos. And so I would just like to look at the report and see if that's really true.
And I mean, if it's true and to what extent it's true and what are the, what are the likely causes? We can, based on all the information, it might help us point a patient in different directions.
But it's, it's not always true. Like, maybe there are some merit, maybe there are some potential embryos that they would consider transferring with informed consent.
[00:33:57] Speaker B: So once testing results are, are in, like, what's next? How should people process that information for, for embryos specifically?
[00:34:09] Speaker C: Yes. Yeah.
I mean, sometimes it's, I mean, a lot of times it's black and white. Like, okay, if we have a cohort of embryos and we know which ones are chromosomally normal, we're going to prioritize the transfer of those ones.
Sometimes they, they're looking for specific, like they're looking for a specific sex of the chrome of the embryos to transfer preferentially, like family balancing or just, just preference. So sometimes people are looking at saying, okay, on top of the chromosomal status, I also get to know like the predicted sex of the embryo. And so they might be prioritizing based on that. If the test results come back and there's, then usually they'll use that in conjunction with the embryo grading information that the professionals will look this and say, okay, based on this testing result and based on the grade this is embryo, we would recommend first. So I think most of the time there's some kind of just, you know, it's kind of an opportunity for you to like, figure out which ones do you want to prioritize.
But if there's some, a situation where there's no normals to transfer or there's, you know, there's some questions about what does this really mean? That's the time to stop and talk to a genetic counselor and say, like, maybe, maybe we can better understand this and see where we should go from here.
[00:35:23] Speaker B: So what would be your advice for people trying to decide whether to move forward with the transfer based on genetic findings?
[00:35:31] Speaker C: It's really about information and values.
So, you know, it depends on the genetic condition. Some there, many doctors will consider transferring a mosaic embryo or a, or an embryo that has a specific genetic profile. Like sometimes you're doing testing, what we call pgtm, which is testing for a specific genetic condition. If you know you're a carrier for something and your partner is a Carrier for something, for example, there's still a chance because only 25% of the embryos would be affected. You might just test for that condition and only transfer the embryos that are not affected. So there's a lot of use cases for that.
If you're in a situation where you're doing PGT for a single genetic condition or you're doing it for aneuploidy, which is why we call it PGT A for aneuploidy or chromosome problems, you would just look at what we have and say, okay, what do I know about this condition? What do I know about. I mean, sometimes it's about specific mutations and the. How likely they are to manifest and what are the severity things and all. There's lots of different pieces to it. And sometimes it's about knowing what the condition is and saying, what are my values here? You know, ideally I was trying to, you know, get into a situation where my child didn't have to deal with that condition.
Ideally, that was where I was at. But, you know, this might be my only genetically connected embryo, for instance, or something like that. And in those cases, people might start to really question and ask themselves the tougher questions of like, why do I value this information? What is it about being a parent that's important to me?
Am I willing to take a chance that my child has a genetic condition, whatever that case, whatever that kid's condition is? And sometimes they do deeper dives into what is it like to raise a child with that condition.
Sometimes they find themselves saying, you know what? I want to do this.
And we are completely unbiased about that. We want people to make the decisions that feel right to them. And sometimes this genetic stuff, it really throws us for a loop because ideally, as parents, we want our child to have, like, the best chances in life for everything.
But. And we slowly tick away at that as we get older and our children grow up and be like, oh, well, you're going to struggle with this thing or that thing. And that's just the way it is.
But when you start out, you want to. You want a clean slate for them. So I think. I think that people often come in and they start to ask themselves the tougher questions as they. As they have to. They don't start there usually.
[00:37:50] Speaker B: Yeah, definitely. What are some questions, you know, parents should be asking their clinic as they're researching fertility clinics and, you know, considering doing IVF or utilizing donors or even embryo donation? What are some questions that they, you know, should kind of be armed with before they walk into that fertility clinic.
[00:38:16] Speaker C: Yeah. I would ask them what they're. I mean, if. If in genetic testing is important to them, I would say, you know, like, what are your. What are your. What are your standard protocols for that? You know, if they do carrier screening, if that's already been something that they're. They're planning to do, what their PGT testing guidelines are, you do want to be in the driver's seat of that decision, ideally, and get the information and have your doctor walk you through what those choices are, rather than just saying, oh, yeah, we only, we only. We do test all the embryos and we discard anything that's not, you know, euploid. And we, you know, like, if they have very strict guidelines on that. And that's not. And that's something you don't want. I mean, not some people like that. Right. But if you don't, if you want to be in the driver's seat asking those questions and saying, how do you make these decisions? Who makes the decision about when to do genetic testing?
I think that's the only thing that I would really highlight when it comes to donor stuff. I would say, you know, you want to work with a clinic that has good understanding of, like, what working with the donor means.
So, you know, having the ability to, from a genetics perspective, do a good family history, share that family history with the, with the patient.
You know, do carrier screening, walk them through anything that they find, let the patient make the decisions about that. Those are the things that really are highlighted for me. I also, you know, I'm a big proponent of directed donation and starting to open up the idea of, you know, becoming more understanding of the children's needs here. So I'm like, I think we need to start with a. With an understanding that like, like, let's think about what the kids might need in 20 years.
They might want to have some connection or the ability to open that door and making sure that the donor understands that this could be a very likely possibility, that they have contact at some point with the children that are conceived with their gametes? And I think that's the piece that's kind of shifting now in, in IVF is just an understanding of those needs.
[00:40:29] Speaker B: Yeah.
[00:40:30] Speaker C: Are there red flags to look out.
[00:40:32] Speaker B: For when it comes to how a clinic presents explaining genetic testing?
[00:40:38] Speaker C: If they say, yeah, I don't. I mean, the ones that I see are just like, decision making, that the doctors just tell you how it's going to go, like, we're going to do this, we're Going to do this, we're going to do this. And I mean, some people like to be told what to do. I don't like to be told what to do. So I personally, I'm like, I want to know what we're going to be doing and understand a little bit. I'm not going to object most of the time because they're professionals. There's a reason that that's their standard. But I don't think we should be telling people what to do when it comes to genetics. It's just so personal.
And honestly, we have such different views on when does it make sense and what do we do? What is an embryo? What do we do with embryos when we have remaining embryos? I mean, that's.
It's so.
It's so confusing to people that they haven't often had a lot of time to process their own emotions about it. So just having the doctor just tell them how it's going to go sometimes is a shortcut to making that easier in some respects. But it's not. They're not in the driver's seat. And these are really important things for them.
[00:41:40] Speaker B: Yeah. Yeah, for sure.
So if someone feels overwhelmed by all the science, where do you suggest they start?
[00:41:50] Speaker C: I mean, honestly, meeting with a genetic counselor is not a scary thing. I would start there if. I mean, I honestly wish there was like, this profession was like across. I mean, not just this profession, but I wish that we had something like this in almost anything. Like, you want to know about this, you go to see a counselor in whatever. Like, because they can. We really are there for the patients. We're there to help, help guide them in their decision making. So we break it down where that's, that's what we're trained to do is to break it down and understand what the patient understands about it and then lead them to the next concept so that it's not a whole bunch of stuff thrown at them.
So I would say meeting with a genetic counselor can be a really great first step to knowing, like, what do we need to do? Is there anything that I need to be thinking about here? And then, so winnowing down, like, how much do I worry about. It can just. It can. You can usually tailor it to about this much, like, as opposed to the whole, the whole enchilada. You start to like, winnow it down to what you really probably need to be thinking about from a red flag perspective.
And it also gets the conversation started between two partners. For instance, a lot of times if you both attend, you get different things. You carry that conversation, you understand your values a little bit more, and you feel more confident in whatever that decision that you make is.
But if you're overwhelmed, I mean, honestly, there is. It's, it's. It doesn't have to be super overwhelming.
Carrier screening is a simple concept, but just looking for hidden risk, then we have that. If you want to start there and say, what do I feel about that? Do I want to look for hidden risks? If I do, we can do testing for that. Then looking at my family history, is there anything in my family history that I'm concerned about or my reproductive partner's family history that I'm concerned about? Let's chase that down, see if there's anything to be really concerned about. If there is, you know, what kind of testing is available. And then also, like testing embryos, does that make sense to us? If we're doing ivf, do we want to do that testing, what is that going to involve? I think it's just about, like, making decisions that, you know, that are right for each person and they're going to be very diverse.
[00:43:48] Speaker B: I'm curious, just, like, a final question.
For people that are doing fertility preservation, should they do genetic screening?
[00:43:59] Speaker C: Hmm, that's a good question. I haven't, like, thought about it much.
Maybe. I mean, I. I guess, yes, if. Especially if they're planning to. If. So, for instance, fertility preservation for, like, egg retrieval, you know, and you're freezing eggs.
[00:44:16] Speaker B: Yes.
[00:44:17] Speaker C: Not a bad idea to do carrier screening just to see what you've got. But if you're not going to fertilize those eggs for a while, it.
Things can change in terms of the technology, not your genetics. Your genetics are going to basically stay the same. But your biology, I mean, but you're. But the technology, it's come a long way, like, so if it comes Even further in 10 years, you might have to redo the test to see if there's anything new technically. But it might help you get some insight. So if you find out you're a carrier for something pretty serious, and then you're like, okay, well, that's going to make a difference.
You might. If you're. If you're, you know, in a situation where you're dating and you find, you know, somebody that you're wanting to create embryo, you're going to, you know, fertilize those embryos with, then you, you might consider testing them, just knowing this on the. At the outset. But, I mean, you could still do that then. I don't know. That I would. I don't know if it's that important. Sometimes you might identify something. It might. Some people might. Just might stress them out more. I don't know.
But you definitely want to do it before you fertilize this.
Before you fertilize them. You want to think about, do I want this? Because if. If you do want this and you want to identify more hidden risks, you want to know that, and you'll want to know, like, that you tested the sperm provider, for instance. So I would say I don't think it's necessarily something you need to do right at the. At the front end unless it's, you know, meaningful for other reasons.
Yeah.
[00:45:41] Speaker B: So final question. Is there a one piece of advice you'd give to anyone navigating genetics as part of building their family?
[00:45:52] Speaker C: Oh, gosh, I don't know.
I think I could summarize my lessons in all this by saying that you never know what you're like when you're a parent. It all, like, you get what you get in some way. And I started to, like, really realize the beauty of diversity, the beauty of all unknowing. Oh, yeah. Yeah. It's like we're all perfectly imperfect. I. I think it's just more of, like, an acceptance over time that, like, we can't control everything.
It's great to feel like you have the agency, especially when you're on a fertility journey. Everything feels so out of control. You want to have some kind of, like, knowledge and agency and all this process. And I, I am all for that, but I think there's something about.
[00:46:40] Speaker B: Being.
[00:46:40] Speaker C: A parent for as long as I have been now, like, I feel like it's like, you know, you have this, like, feeling that no matter what, there's always something. They're always going to throw you for your loop. So I don't know. Just like that, just knowing that you can't control for everything, like, you can do what you can do, and then you have to take a big, deep breath and say, I've done what I can, and now I'm going to face parenthood, whatever that is.
I think that's what I would say is that, you know, there's just. Life is interesting, and it's a journey for a lot of people. And if genetics is some. It's something that touches you in some way, like some genetic risk thing. It's like a learning opportunity, and it can teach you a lot of stuff about yourself and about your values.
[00:47:19] Speaker B: Yeah, definitely.
[00:47:20] Speaker A: Well, Gina, thank you so much for joining me. I appreciate it.
[00:47:25] Speaker C: Pleasure. Thank you.
[00:47:27] Speaker B: So where can people find you?
[00:47:31] Speaker C: So we are at Advocate Genetics and that's just AdvocateGenetics.com is our website if patients want. People want to schedule appointments to talk to one of the genetic counselors on our team. I am not a big social media presence right now.
I've just decided I don't have the time for it. So our social media presence is not high. But I'm also a co founder at Empower with Moxie where we help facilitate embryo donation and just talk about education, support and logistics around embryo donation. So also Empower with Moxie, if you're looking for, if you're thinking about embryo donation, either as somebody that has remaining embryos or is thinking about building a family through embryo donation.
[00:48:13] Speaker B: Yep. And we'll make sure we have all of this information too in the show notes. So awesome.
[00:48:17] Speaker C: Thank you.
[00:48:18] Speaker B: Thank you so much for joining me.
[00:48:19] Speaker A: I appreciate it.
[00:48:21] Speaker C: My pleasure. Thank you.
[00:48:22] Speaker A: Elle, thanks so much for listening to Fertility Cafe. If you've enjoyed this episode, be sure to subscribe so you never miss an interview. Subscribe, leave us a review and connect with us on socials. We're ertilitycafe. You can also watch the full video version of today's conversation over on our YouTube channel. Until next time, remember, love has no limits. Neither should parenthood.
