Teresa Cacchione is a board-certified genetic counselor at RMA of New York who guides patients on several genetics-related concerns such as cytogenetic anomalies, carrier screening, family history concerns, and preimplantation genetic testing (PGT) of embryos, including single-gene disorders, aneuploidy, and structural rearrangements. In this episode, we take a deep dive into the topic of genetic testing, including the rapid evolution of the field over the last decade, and as you will hear from Tereasa, science has truly come a long way to help individuals optimize their chances of conceiving. She explains to listeners what PGT broadly involves and then gets into the different variations – PGT-A and PGT-M. She also discusses the advantages and disadvantages of 23andMe home testing, why eggs and sperm are near impossible to test for viability, the conditions that are typically screened for, the new research around mosaicism, and how testing science is impacting the world population.
Teresa Cacchione is a board-certified genetic counselor at RMA of New York who guides patients on several genetics-related concerns such as cytogenetic anomalies, carrier screening, family history concerns, and preimplantation genetic testing (PGT) of embryos, including single-gene disorders, aneuploidy, and structural rearrangements. In this episode, we take a deep dive into the topic of genetic testing, including the rapid evolution of the field over the last decade, and as you will hear from Tereasa, science has truly come a long way to help individuals optimize their chances of conceiving. She explains to listeners what PGT broadly involves and then gets into the different variations – PGT-A and PGT-M. She also discusses the advantages and disadvantages of 23andMe home testing, why eggs and sperm are near impossible to test for viability, the conditions that are typically screened for, the new research around mosaicism, and how testing science is impacting the world population.
spk_1: 0:14
everyone, We're green and era and welcome to fertility. Ford were part of the wellness team at Army of New York, a fertility clinic affiliated with Mount Sinai Hospital in New York
spk_0: 0:23
City. Our fertility for a podcast brings together advice for medical professionals, mental health specialists, wellness experts
spk_1: 0:31
and patients because knowledge is power and you're your own best advocate.
spk_0: 0:36
Theresa Cascione is a board certified genetic counselor here in Army of New York, where she provides guidance to patients on a number of genetics related concerns, said just psychogenic anomalies, carrier screening, family history concerns and preimplantation genetic testing of embryos, including single gene disorders and employees and structural rearrangements. We are so happy to have Theresa Kashi owned today in the house, just ah, couple doors down from us to your ex. She is our genetic counselor here at R. M. A. And I've known personally Theresa here for probably 56 years. You didn't start in genetics where they will start out.
spk_2: 1:18
It started as a IVF court, bigger at our made back in 2011. So, almost a
spk_1: 1:24
decade ago, on there about on I only know you as a genetics cancer. Yeah, I was
spk_2: 1:30
a coordinator for Dr Government for five years from 2011 to almost 2016. And during my time here, That was when I realized I wanted to go back to school to be a genetic counselor. And so I did that 2015 to 2017. And when I graduated, just so happens that Army was ready to start having someone in house. So they approached me, and I was super excited to come back and sort of consider are made to be my home. It's where I sort of grew up in my first job outside of college. So I was really excited to come back and love putting all of my previous fertility knowledge to use now in this sort of set instead.
spk_0: 2:05
And you already probably felt comfortable at our Yes,
spk_2: 2:08
I consider my home for
spk_1: 2:09
so lucky to have you here. Such a grand asset. I'm having your source, um, so much knowledge and always still impressed by how much you know
spk_0: 2:17
it was the impetus of going back to school for genetics was just out of interest. You felt like there was something lacking in the world of fertility or was it just a medicine
spk_2: 2:26
general Genetics in general. And I think, actually, as I sort of went through the program, realised that there, even now there are not very many genetic counselors in this particular area of medicine. It's just starting to grow. I think most unique counselors were guys were in prenatal. Someone's individuals are already pregnant or in cancer. Some cardiac and narrow genetics is starting to him are common. But there were not premonition encounters in the fertility setting at all. I would find that as you know, we were going through classes and talk about topics in my program. I wouldn't be the only person that sort of knew this area specialty and was realizing that that was maybe a need to have that more representative. So I was excited when this possibility came up, sort of being what there are a couple of other fertility show and counselors in New York City and a few on the West Coast, but that's about it. So I was excited to sort of join that small population and maybe start to grow it a little bit
spk_0: 3:17
and in house to which I think it's great, Yeah, because you know,
spk_2: 3:21
I think every fertility clinic operates a little differently. Every clinic has their own sort of group in their own philosophy. Is it being able to tailor all of the genetic principles that are obviously a same across the board to that particular clinics? You know, way of practicing medicine is really important. Say has been
spk_1: 3:38
That was wild. I didn't realize it was such a small field because just because of my own personal experience, then of course, being here where we have such amazing genetics resource is I kind of thought it came in the territory. I don't really understand. You know, the gas has been out a genetics purse, a lot of time. I know
spk_2: 3:54
a lot of other places will work for out to genetics clinics, which has fabulous, wonderful. You know, that's what I believe we used to do before I was on staff. We refer out to the gym aesthetic about side eye, which is great. But, you know, I would say usually those clinics are a little bit more focused on the prenatal setting, and there are some things that are pretty special and specific to this particular field of medicine that unless you're in it, you may be may not be able to appreciate quite as much or no as many details about, so I feel like being in house. I could give patients in that particular view instead of being marched over list,
spk_0: 4:28
even like I don't know, I could attest to this. I think it's great to have an integrative approach, looking at the big picture and looking at the different parts and how it all connects. You know, the importance of wellness. So meeting with three NA meetings myself meeting with you, I think it's it's nice to have the big picture all in one house s so we could all better understand that patient or each individual.
spk_1: 4:50
And that's something I
spk_2: 4:51
integrate into my sessions. I'll look at the notes of sort of what the doc, what was discussed with the patient, the doctor, all the fertility testing they have done. You know, when we're making decisions about how to proceed and sort of what the patient wants to do in terms of preconception and prenatal testing options, I usually take into account. What treatment are you already talking about doing with the doctor? One of your results showed What is your prognosis? What makes sense for you? I'm to really try toe help individualize it. Which is something that if you're not familiar with fertility testing and prognosis and what we're doing a house, you may not be able to do so
spk_1: 5:23
right. And I think it's so much easier to and you know the team, right? And the people. You ready? Oh, yeah. Much easier. Yeah,
spk_0: 5:29
that's true. And they know you too. You know how you operate, how they work. I think it's also great collaboratively. I see you often go to the meetings.
spk_2: 5:37
Oh, yeah, I love to try it and honestly elected. Don't go to the meetings just even if it's not a topic that I'm actively involved in just a sort of cross strait and find out what's going on in other areas of the practice. What are our patients experiencing what's going on in the field in general to try to make sure that when I talk to them, I can have, like you said that holistic approaches sort of know was going on in their treatment in general, integrated that into our discussions?
spk_1: 5:59
I think it's wonderful. So I think so. Let's jump right into it. I think the big question everyone always wants to know is let's talk about what you guys here for you, J T E Labs and all the nuances that you know, go into those
spk_0: 6:14
and also how I know it's come a long way. And I'm sure you came. I think I figured I was gonna last so much changed. What was it like way back when was genetic testing I to be? Honestly, I always thought it was. If you're Jewish, you need to get genetic screening. And I thought that was only for a small group of people, and it's not
spk_2: 6:36
so. There have been big changes in the last decade, you know, in terms of both genetic testing, which you're referring to, Darrin terms of carriers treating and in terms of embryo testing, the P G. T. So we could talk about them both. You know, both very a lot of changes. It's something about the carrier screening first, so I would say back in the day when she was 10 years ago, just really isn't that long of a time. But in terms of genetics, that's actually a very long time things change really quickly. We really Each condition that we tested for was it was expensive to do testing because it took a lot of resource is, and each test was an individual test in the laboratory. So if you were testing five conditions, those were five separate tests with five separate processes for that individual person. So doing DNA testing is a lot of work. So what we would have to do back then as we would have to tailor it to okay, Based on what you know, to be your ethnicity based on your family history, What are the most common things in that ethnicity that we see pop up? What diseases do you want to be testing for? And so we were tailor it that way. So people of Jewish ancestry do have a lot of conditions of their best, for for a number of reasons. But they're also specific conditions that individuals who are Caucasian in general are at risk for people of African American and Mediterranean descent have other conditions. So we used to do it that way. Okay. Okay. And
spk_0: 7:50
what a lot of work. Yeah,
spk_2: 7:51
And what we will be looking for Just start clarified. For anyone listening, who's not in this world is automatically know what we're looking for. Our recesses to conditions. So
spk_1: 8:00
going back to high school by taking everyone back
spk_2: 8:03
for a second. If you remember as humans, we have two copies of every G one that we inherit from Mom. Well, that we have heard from Dad and genes are basically the instructions that make our bodies work properly. Every gene is a different job, and there are genes that you know, help our heart to beat and tell us that a judge just food and tell her our body said it carry oxygen, Don't ever change, has a job, And recessive genetic conditions are conditions where both copies of that gene so the one inherited from Mom and the one and heard from Dad have to both not be working properly anymore or be broken or mutated in order for someone to actually show symptoms of that disease. Okay, carriers are people who have one working copy of the gene. One non working coffee is a G, and that remaining working copy gives their body everything that it meets, so they would never know that their carrier they don't show any symptoms, and they're usually is no family history of the disease. So a lot of people will walk in and say, Oh, why did I mention it? Kept testing. I don't have any family history of the disease for recess. If conditions we wouldn't expect there. Ruby, they're usually visit.
spk_0: 9:04
System will never
spk_1: 9:05
throw for a lot of people say that this is a big surprise, right? They have no idea. Then along here, on them in their life, that they could be a carrier for something. Exactly.
spk_2: 9:13
And so the problem is in two people. So to gammy sources, I get sperm are both carriers for the same condition. That's when we conceived the disease show up. And, like I said, they would never know. Usually just But they be healthy. They'd be walking around that have no family history. Everybody carries something. There are thousands of recess. It conditions out there.
spk_0: 9:32
Wow, Yeah, that everyone carry something. But then there's also I'm sure if you even our carrier So if you're a carrier, that doesn't mean it's gonna be expressed. Unless you have both mother fall. Exactly. But if you have both mother, father that also doesn't necessarily
spk_2: 9:48
guarantee it's a 25% chance
spk_0: 9:50
settle bendable. So basically turned on.
spk_2: 9:52
Exactly. So, basically, if both parents but biological parents are a carrier for the disease, the same disease, then there's a each time they have a child 25% chance the child will have the disease. So that child inherits. Then now working copy from each parent, someone from each of them a 50% chance that child's going to be a carrier and not show any symptoms, just like the parents. So get a working copy from one parent, a nonworking copy from the other and then a 25% chance being completely negative. So getting a fully working copy from each parents so again, some ways something probably carrier couples out there who just happens. So sort of rolled the dice luckily, and when they had Children and just never showed up. But you know, when we're thinking about, you know, fertility treatments because, you know, in this setting, there are which we'll talk about our options to intervene. You know, the average couple may in many cases, this is changing luckily, but in many cases may not think about that carrier screening before their, you know, sort of trying naturally. But when we're already talking about options and we have a way to intervenes, which is PG tea and we'll talk about more in a little bit, I'm in the fertility setting. We need to know up front whether or not those there are those risks because we know about them, there are things you can do.
spk_0: 11:04
So carrier screen is down across the board at this fertility clinic.
spk_2: 11:08
Yes, that are just recommended for everyone. Of course, it was always optional. You know, not everyone wants that information. Not everyone wants to sort of dig into genetics, and that's fine. It's always optional, but it is highly recommended. We find that usually nationwide, approximately 1 to 2% of couples or carriers for the same thing when you which doesn't sound like a lot. But when you think about the many millions of people in this country, that's actually quite a large number of people, and we see in our patient population at our may about 3% of couples or carriers for the same thing, well, likely because we have a couple of large populations that are at increased risk for genetic conditions. So it is. That is a significant number of people when you think about how many patients are my has. So we do recommend that everyone do that screening before, as part of their initial fertility look workout before they decide What treatment do
spk_0: 11:55
I think all that oncologist should be recommending? You know, you go see your kind before you're thinking of exact starting a family. That should be. In my opinion, it should be one of those things I graph about the checklist starting.
spk_2: 12:08
Yeah, we're start seeing that to be more common, like I have to say, you know, personally that my overdue, you know, recommended it, obviously, but they recommended it. That's exactly so. The over Julian's within sports the Sinai system that are familiar with our May and that have a lot of genetic counselors sort of giving them little pushes. You know, we're seeing that happen more frequently in major metropolitan areas in general. I think it's becoming more common, hopefully will filter down to other areas of the country as well soon and the reason why I think just to sort of circle back to what we were initially talking about. The reasons become more common now is like I said, back in the day. Each dead test was a separate testing laboratory. Now, a couple of years ago, a new technology called the Next Generation sequencing combat came out, or we can run multiple conditions at the same time. It's part of the same test on the same blood,
spk_0: 12:58
so extreme one,
spk_2: 12:59
It's streamlined. It's so basically before each test was a separate tested, each one was about $1000 on. Now we can run as part. We can run at this 10000.283 conditions at the same time as one test. Yes, simple blood test. Or you can even in some cases, do saliva. So, for example, if some patients, you know, partners or spouses who travel weren't always around because give us alive a kid if they're away or accessible, affordable, yes, that usually a various person to person in terms of insurance. But these days, you never seeing it down to a couple $100 instead of $1000 in her condition. So it became a lot more accessible, and now that it is much more accessible and easy to run and easy to interpret and sort of running it on a larger mass scale. We are, at this point, you know, recommending it more for everyone instead of just based on high risk scenarios. And we're seeing that a lot of the conditions that we thought were maybe isolated to certain ethnicity. There actually may be a little more common across or more panna Nick that we thought that the other factor that is, that it's also possible that, you know, we're not always each of us 100% certain about our ethnic backgrounds. And sometimes there's more crossover than we knew their WAAS. So it actually adds that we're, I think, in the future will be sort of thinking about more of a hat, ethnic approaches, screening for the same things across all ethnicities instead of, you know, sort of segmenting it into different conditions of different ethnicities.
spk_0: 14:24
You think that toe like because of 23 in your ancestry dot com. Maybe. I
spk_2: 14:30
think, honestly, the biggest factor it was just being able to run this screening at this larger scale on more people, you know, Like I said before, we were doing just a handful of conditions. And as I said earlier, there are thousands of recess of conditions. But most of them are so rare that it would be astronomically unlikely for two individuals, unless they're being related was, there's constant windy and their family really unlikely for them to both be carries at the same site. But there are a couple 100 conditions, which are the ones that are currently screen for that are seen at a common frequency for us to want to be screening the general
spk_0: 15:01
behind hundreds. So the had Apple 100? Yes,
spk_2: 15:05
right now the panel is 283 conditions that were able to scream for We use a lad called Semaphore for that. But the most of the genetic carrier screening labs are between 203 100 diseases right now, and that will expand overtime. As the technology gets better and us we can scream for more more conditions.
spk_1: 15:23
And as this and I said, say you years to 91 are using those at home. It's like they just have it. Is this something that that screens for, or that's totally sex. So ancestry, I
spk_2: 15:32
believe, only looks for obviously your ancestral markers, and you know that super fun. I tell people you don't enjoy go for it because I was stunned to find out what's going on there. 23. Me does also have a health component that includes carrier screening, but and when, say, it does not replace doing a medical, a clinical carrier, ST Jude Wyatt or through a genetics department for a couple different reasons. First reason is it only looks for, I believe, 20 condition. The last time I tracked at grammar is now with the pet excreting we're doing. Like I said, the tweet 203 100 depending on what genetics lab you're over Joanna for Tell Dixon accuses. 2nd 23 of me is designed to really only look for a couple of mutations at each gene. So when it looks for the most common eyes, the gene could change your brake. Whereas the clinical version of the testing that we do here looks at the entire D, so it is much has a much higher detection rate. In addition, 23 me. The reason why it is allowed to be done at home is that it doesn't take the final step that we do clinically, which is if we find it abnormality. We do a second tape of testing to confirm it on, and they don't do that, which is why it's some cheap and accessible. So we do see a rape of both false positives and false negatives that is much higher than what would be acceptable. Authentically so. I think it's super fun for alerting more about yourself and learning more about your health markers and ancestry and all of that. But we typically say not to use that to replace political testing after we've had a lot of people get false reassurances through that, and we want them to make sure they've sort of done thorough testing clinically. If we're thinking about planning for, you know, conception, all of that, it's
spk_1: 17:17
just old in a screening at a doctor,
spk_0: 17:19
Exactly 23 means for fun. Yes, because you don't have a counselor.
spk_1: 17:25
So Okay, so say they come and they okay, so they don't talk about sort of p j t moving today. Yes. So first let's talk about maybe what is PT and PTT and then
spk_2: 17:36
who? What? Do you go to those
spk_0: 17:38
tests? Yeah, and When did it start? Because I know the names even changed over the years when I, uh, with a patient 2010
spk_2: 17:45
it was called Something else announced its evolved. Yes, the terminology is constantly changing because we like to keep
spk_0: 17:50
everyone on their toes are
spk_2: 17:52
confused. So the last couple of years, I believe, was 2017. The terminology was updated to PG cheese, which he isn't. Tom Preimplantation genetic test. So that is sort of an umbrella term for multiple different types or indications to test Rembrandts. So just back up for a second. For anyone who doesn't know it was listening in on my talk about preimplantation genetic testing, We're talking about testing on embryos that have been created through IVF. So an individual, a patient or a couple of what goes through IVF, where the female wouldn't take injections to make her body's produce more eggs than usual. Those eggs are retrieved and then fertilised, using this firm source that the fertilized eggs or Moby refers to as embryos. And then we grow them in the lab for 5 to 7 days so that they reach a particular stage of development where it's safe for us to take a small biopsy of a couple of cells from the embryo. Freeze all of the embryos right after we take that biopsy because we don't want them to keep growing in the laboratory. Much past that day, 5 to 7 point just called the blastocyst stage. And then we send those biopsies that we took from each embryo off to a genetics lab for testing. Just find out some more information about each embryo before deciding which ones to use to attempt pregnancy and which ones to avoid and not use. Because we can't tell just by looking at the embryos anything about their genetics, that chromosomes, which we'll talk more about in a second. You know, a lot of people will see or read that weaken grade embryos, and they get her quality ratings, which they do.
spk_1: 19:23
And I got that. Yeah, you thought Donna
spk_2: 19:25
here, right? I'm sure. On the grating is important and helping us assess the metabolic potential of the overall health of Anna Maria with this ability to influence in the uterus. But it doesn't tell us much about its ability in terms of genetics or chromosomes to become a healthy, viable
spk_0: 19:41
time. That's good for human Daniel. I held
spk_2: 19:43
out just by looking at the embryos so the p g t helps give us more information in that regard.
spk_0: 19:49
I didn't realize that you this is something new for me, that you just take a part of themselves surrounding it so that I might my old I was like, Oh, you cut part of the embryo on I thought it was very invasive and it's actually quite gentle,
spk_2: 20:02
correct So And this is why it's become, I think, a little bit more prevalent. P g t. Now I say in the last five years, because previously, back when you were a patient, we could not grow m bruise, too. That day 5 to 7 stage, we can only grow the party right here on Day three and taking a biopsy on Day three. At that point, that embryo was only eight cells and size, or so taking a couple of cells that would actually be very hardball on base into the embryo. So back in the day, we used to only do PT T for very some beers specific circumstances. Now, by growing that embryo to day 5 to 7 at that phase, the embryo starts to actually split into two different areas of cells. So all of the cells that are eventually going to become the fetus if it's a healthy embryo, I tell patients to think about a tennis ball. If you were to cut a tennis ball in half and there's the phone part on the inside and the fuzzy part on the outside, the cells that are gonna become the fetus are the part on the inside. So they all pulled to the center of the embryos, sort of income packed tightly together, and we can't touch them or see them, actually, just by looking, unless we cut the embryo open. So those cells, they're sort of protecting themselves. It's the embryo, say, these are the cells that are really important. Don't touch these. And then the cells at all migrate to the outside of the embryo, which, using the same analogy, is sort of like the fuzzy part on the outside of the tennis ball, those air, all of the cells that are going to become the placenta and the supporting structures of the pregnancy in between days five and seven. Some of them actually start to hatch out of the embryo so we can do is we can capture a little biopsy of that part that's hatching out and send that off for genetic testing, and those cells are really regenerative. You know, taking that little biopsy is not and issue. They've done many, many studies that have shown up that there's no damage to the embryo at all. And that part that's going to come to the fetus, all those really important sells its remaining untouched since prevented. Yeah, so that's why the now it's much more safe for us to do this sort of testing worse. And that the maid impotence, um, that was the development of that being ableto culture embryos in the lab today, 5 to 7, as opposed to previously. We really only had that, you know, Day three option. That was a lot more dangerous. So now you know what we see. We see people do PDT for a couple of different reasons, and there's one reason that's pretty much universal. Tow everyone's That's the one. I guess I'll talk about first instance of most of our patients. Are people listening probably will be recommended to do pretty implantation genetic testing for and including so p g t A. As in Apple. That is what we pretty much at least that arm and and a lot of clinics. They're getting to the face where they're doing this. We pretty much recommend that across the board for anyone who's doing IVF, because an employee is the fancy word for chromosome abnormalities and Carlos member maladies can happen to anyone, it's not something that is inherited. It's not really based on family history, for the most part, so again, to take us back to his school bio. When our bodies are creating eggs and sperm, we go from having through a process called bio sis. We go from having 46 chromosomes and that are split into 23 pairs. If you guys remember, are you making create eggs and sperm and go down to having only 23 from themselves or one of each picture? Those pears basically get cut in half, and then we go back up to the not normal number 46 which humans need to be so, you know, healthy and functional. We go back up to the normal number 46 when the egg and less bird come together. They each have 23 or 1/2 of each pair that comes together to make those 23 pairs. So when our bodies air cutting those pears and happened, creating our ice and sperm as humans, we're actually awful at that, and we make errors all the time. So we make eggs and sperm that have the incorrect number of chromosomes. So extra missing chromosomes missing from someone having an extra chromosome 20 all the time, and so that results in the creation of an embryo was extra missing chromosomes and usually is not compatible with a healthy pregnancy. In the majority of cases,
spk_0: 23:56
I want to interrupt you quick. It wasn't a random question, but in the environment affect the quality of those chromosomes.
spk_2: 24:03
So no. So the chromosome issue is usually just rid of errors that occur. You know, when our bodies air creating eggs and sperm you're thinking about epigenetic sits just hurting genes on and off on chromosome. So that would be, I think, a separate process after the embryo has already been created. This is really thinking more before any of that is possible, creating that initial egg and sperm that could come together to become
spk_0: 24:26
so there's no way thio stream on it or make those chromosomes that much better. Or that at
spk_2: 24:32
this phase we have been so much research because this is the one thing that seems to be sort of one of those biological mechanisms of nature that we can't semester ruins it all. Yeah, and so those errors, you know, that what we see is they occur in the Christian of sperm cells at about the same rate, approximately across a man's lifetime as he's creating spur, we see maybe like 10 to 20% of the sperm er abnormal. That is not as much the case when they're in much later age 60 seventies, eighties, but the majority of reproductive life it's about the same, whereas women we start off in our twenties and thirties, with about 10 to 2030% of our eggs abnormal. So even if that thing yeah, and then by the time we're in our mid early to mid forties, it's my personal admirable, and that number starts to really accelerate after around age 37 or so.
spk_1: 25:25
So harsh reality is really have thio spying a patient and it just and I just for myself, to it 34 You know, a violin is really, really huge. Is that I think I
spk_2: 25:40
always feel like when I'm explaining this, I'm sort of playing into that, you know,
spk_1: 25:43
saying I hate it, but I hated high. But all the information You
spk_2: 25:46
are society and has advanced in many wonderful ways. In terms of you know, women have being able to think about having many, many aspects of their life outside of having Children, including myself included. But that piece that biological clock has not caught up. The biology is not married. Yeah, whoever unlocks the secret to stopping our eggs aging and and all that will be, you know, a gazillionaire, but that it is not something that has been figured out yet. So we d'oh you know, means that when we're doing IVF, remember trying to conceive. You know, each, for example, someone who's in there. Eventually thirties, each egg or embryo has about a 15% chance of being horrible and a 50% chance of being admirable and those abnormal ones. If we were to put them back into the body attempts pregnancy, they would either just not implant. So it would be a failed transfer cycle or in someone who's trying to actually, honestly, the months where everything's been timed correctly. But we don't get pregnant. That's the reason a lot of the time
spk_1: 26:50
crime rats in this carriage, right? Exactly.
spk_2: 26:52
That's the other possibility is that could, in flint and result in a early pregnancy loss having extra missing chromosome. So chromosomes are the structures that hold all of those genes that we were talking about, each from so much hundreds to thousands of genes on it. So if you're suddenly having extra or missing of hundreds to thousands of genes that your body needs is the body's really sensitive to that, you know they want STO have exactly two of each Jew, and if so, having that many missing is usually in combat, okay, compatible with life in the body knows that that's why we see pregnancy failing to occur or early losses week. There are a couple of crimson abnormalities that can make it further into pregnancy, though Down syndrome is the one that most people have heard of. We can also see two different conditions called trisomy 13 and 18 that could make it a live birth. But those are usually very severe individuals to pass away shortly after birth with those. So you know what we're What we can do now is if we have embryos in the lab. So let's say again, state patient was talking about earlier. You know, mid to late thirties, we have six embryos from them sitting in the lab in front of us. We could say, Okay, these three are the ones that we should avoid and for pregnancy. And these are the 50% better at normal, and these through the ones that are from suddenly normal, they could become Bible pregnancies. These are the ones to use for embryo transfers
spk_0: 28:08
by saying the word normal. Does that mean that they still may have some things, but overall, it's still So we're talking sandwich desire.
spk_2: 28:14
Thank you, yes. So when I'm talking about normal and saying chromosomally normal, that process P g T. A. Does not zoom in to look at the jeans on the chromosomes was like that in a second. That's different type mpg tea. So it's overall just looking and chromosomes. Obviously, any pregnancy still has. There's been anybody, regardless of how much scrutiny we've got ahead of time. There's always a risk of random birth defects. Autism, intellectuals of disabilities. A lot of those things don't have specific genetic causes, and you can't screen for them ahead of time. But by doing the P g T A. Were significantly reducing the chance of failed implantation, pregnancy loss or the birth of a child with a chromosomal abnormality.
spk_1: 28:54
So it seems like, and I think it sounds like these days is recommended. To most people that walk through the storage is that, yes,
spk_2: 29:00
every person has a chance of creating chromosomally abnormal embryos. And if we could, you know, have you do fewer transfer cycles because we're only using chromosomally normal embryos. That's it. We'll do it. Like I said, even people in their twenties and thirties we will see in the member is a handful of once that are abnormal. We want to make sure we're avoiding,
spk_1: 29:18
and I think also back when I did it, it was different. It was extremely extended. It wasn't recommended to everyone, and I think the costs for this to be done
spk_2: 29:27
a lot for rent. That was also that next generation sequencing technology that I've talked about for carrier shooting also impacted P g T very positively. So now the technology is much, much cheaper. It varies based on which lab that your particular fertility clinic is using. But I know that for us, for our patients is you between 102 $100 an embryo. They think
spk_1: 29:48
so much. So much. Yeah, and that actually too. So a lot of times locations ask, May I see kind of in the space people always talk about?
spk_2: 29:55
Well, what lab To use,
spk_1: 29:57
what lab is the best they use this lab. That time is good. Can you speak to kind of the different labs What that's about? So the difference in
spk_2: 30:06
the labs, I would say, You know, there are a lot of different reasons in New York state. New York sickness, Very special credentialing. So we actually, if you were a clinic, look it in your state, you are limited. So only using labs that are New York State license. So for us actually limits us to a particular poll that so we're not a ton of p g. T labs in the country is very specialized type testing for K g t a. For the an employee screening. They all use that and the next generation sequencing technology. There's in small differences lab to lab, but I personally would not have a lot of concerns using one lab or another. All of them of this stage have similar accuracies, and again, they're all using that same technology. So I have a very high degree of trust in all of them. I would say the lab to lab think, and sometimes more come into play when we're talking about the different type of picture. T just kind of a goods like What? So pg ti m so preimplantation? Genetic testing for mono genic disease on Emma's unmarried? That is the new terminology for P. G. D.
spk_1: 31:08
So on. Genetic diagnosis, as it used to be called that we're not calling in Fiji anything anymore. I have a terminal time
spk_2: 31:17
T m. Yeah, so that's it is a mouthful, but you're one of the reasons they updated the terminology. Was that peachy d the diagnosis? It's not my test. Embryos were not really diagnosing them where, you know, it's not sort of actually to circle back to what you were saying earlier area testing embryos is not can do with 100% accuracy. It's usually 97 to 99% accuracy. So diagnosis really wasn't an appropriate word. Diagnosis reflects sort of a 100% accuracy, so the it's preimplantation genetic testing. Like I said in these different types of different letters or some types of a was the chromosome screening.
spk_1: 31:53
And that's kind of the basin. Exactly
spk_2: 31:55
the basic and M, as in Mary, is testing for specific conditions.
spk_0: 31:59
I'm not done by all are not necessarily recommended, So they're not as
spk_2: 32:03
yet we do pg tm if we know that there is a specific genetic condition that that family is at risk and
spk_1: 32:12
that this is the new PGA of the also that this I mean, this
spk_2: 32:15
is what you built a probe for Exactly. So exactly. So when we test embryos not for Ambu flooded offer chromosome stuff but for specific genetic conditions, so again zooming and she'll look at the individual genes on those chromosomes, we have to build specialized technology because testing embryos works a little bit differently than testing people so that everyone biopsy that we talked about earlier that we're taking from the outer part of the embryo that becomes the placenta is also called the true affected or that area of the embryo. That biopsy has about 5 to 8 cells worth of DNA in it. Where is when you take a blood or a saliva sample from someone to get millions and millions of cells? That's what most dynamic technology that NGS the next generation sequencing technology we're talking about. It's usedto having that much DNA. So when you suddenly go down to 5 to 8 cells, if you were to use the regular technology, there's a very high chance we would not get correct results. So what we have to do instead is being billed customized technology, which we refer to as a pro. That sort of outdated term because it implies that there's a physical.
spk_1: 33:21
I think I really oh, my vision just like city ship, more of a computer entity
spk_2: 33:35
at this point. But it's basically identifying unique genetic markers to that particular couple or pairing if it's a patient using donor sperm or something like that. That particular pairings combination of DNA marker so is unique to every egg and sperm, Harry, So one couple, even of two different couples are testing for the same condition. Their probes will be different.
spk_1: 33:56
And so this pass, it stinks quite awhile, right, because sometimes exactly,
spk_2: 34:00
because it's so individualized and because they're only like I said, a handful of lives in the country that do this sort of testing it usually takes about two months or so to build a probe
spk_1: 34:09
on very frustrated people are I be
spk_2: 34:15
frustrated myself. I always feel awful feeling. I have to hold off two months to build the probe, but in many cases it's important. You know that for if it was a situation where that two months is really going to change prognosis, we
spk_1: 34:27
all would have that discussion. It was two months, first of the lifetime, for two months
spk_2: 34:33
of delaying versus a lifetime of potentially at having a child with a severe genetic disorder. While those two months are excruciating and there's no sort of getting around that, and I had met that that is tough. In the end, it's usually worth
spk_1: 34:45
it and building a promise of one time thing. You
spk_2: 34:46
do it used exactly, so you build it once at the very beginning, before she used to build it before you start your IVF cycle, because you want to make sure that it's done before we have any embryos in the lab to test, and once it's built, it's there forever. And see if you need to do. If you sure IVF cycles, you're more than what you don't have to take time to build the program. Once it's done, it's done. The only time that we've ever had to read all this, it's someone switched. Partners is
spk_1: 35:13
different. Just appearing Hubble exile yet, and then for this I hate to ask, but is this one much more expensive than it does? Tend to
spk_2: 35:20
be Much more expensive usually runs a couple $1000 I would say, but I have seen lately and particularly the major insurance companies be actually there. If there is a genetic indications of their that family is at risk to have a child delusional disorder and it's a defining will rest. We know it's there. I am seeing a lot of insurance company start to cover it.
spk_1: 35:39
Oh, no one, and it just makes sense because for them, a couple of $1000 versus then the layer for a person with issues, so you resorted
spk_2: 35:49
to see that happen all. And now that, for me at least, is often dictating what lab amusing? Because different insurance companies have different. He loves that they're a network with and for the majority of you know, genetic conditions have to be honest. It doesn't make a huge difference. There are a handful of conditions where I might recommend one lab over another, building them pro. You can use different. They're different approaches to that different technologies for most conditions on technology is as good as the other is just that last particular specialty. But there are certain conditions that I might recommend one lab over
spk_0: 36:20
on in terms of the major people that you tipping the suggest this for yes. Are there any common threads you see
spk_2: 36:28
yet? So going back to what we're talking about earlier Those recess of conditions. If a couple does come back, we're both the egg and the sperm source. Both members of that pairing are carriers for the same disease. That's when we can create a probe. So we know that couple has a risk of having a child with a specific condition. We could build a pro for that condition.
spk_1: 36:48
So what are some examples to destroy ours? You.
spk_2: 36:50
So I would say some of the Colin one cystic fibrosis sent to comment on for two members of a couple to be carriers for have sickle cell anemia. Tay Sachs. There's a couple of other ones that we're seeing more frequently at bursting of very high carrier frequency in the general population for something called non syndrome. Akira Gloss.
spk_1: 37:09
Yeah, I heard that, Yes, it
spk_2: 37:12
was now included on the carrier screening. So we're seeing it. You know, people be screwed for a lot more often. It's basically hearing loss in the absence of other you know, sort of any other ish bodily or issues. So we don't see typically an effect on life, spin or intelligence. But it does. Obviously it is a disability. It can be quite impactful. So we're seeing that pop up. A lot of single people teach you, too for that. What about Bracha? So Brock is not something that's typically screened on the carrier screenings. This is sort of a great question that ties in multiple things. So when we do that carrier student that we were talking about, we're only testing for recess and conditions, or things that you might be a reproductive risk for. That. You don't know about that art impacting your own health, Bracha and other conditions. And it saved category or what we call dominant conditions. So their conditions where a patient or partner could actually have that condition themselves. For Braca, that condition is hereditary, rested, very cancer. But there are other dominant conditions that we might see a couple walking, and one member of the couple has a dominant genetic condition. They can also use Page E. T to avoid passing that to the next generation. So I do see people use that for a number of different dominant conditions. Usually wants that are either associated with cancer symptoms or are later adult onset. So they may be in their reproductive years and not get the, you know, having it impacts their life. But wanting to make sure it doesn't get passed on to the next generation.
spk_1: 38:32
And for Braca to refer back to our episodes with Dr Matthew Letterman and Amy Switzer because in those episodes we really dug pretty deep attack specifically about how to go get tested for Bracha and who should get tested,
spk_2: 38:43
Doctor, let him in. Is the expert on that
spk_0: 38:46
And then, in terms of so people, sometimes you recommend generally carry risk reading No one for patients that do I V s. It is mentioned to do P g t a. Yes, and then for specifics.
spk_2: 39:00
Yet so for joint carrier couples on the carrier screen to all three. Exactly. Or people who have specific genetic conditions that they are either themselves affected with. There's also a category of conditions called excellent conditions, which are conditions that only women carry. Some of those are on that carrier screening panel. So we wouldn't do embryo testing in those scenarios as well.
spk_1: 39:20
And then Okay, so we talked about you could test Ember goes for these now what if you're a patient that comes in it and it's freezing eggs, then you test.
spk_2: 39:28
No, you do not wanna test IX. So there is a technology called polar body by up seeing which is a method of testing eggs for genetic conditions. But it is pretty invasive. You think about that egg is one cell inside. Remember I said even back in the day when we were doing an eight set tried to buy a seat. Eight. Cell embryo that was someone invasive. In addition, eggs have not fully completed their maturation process, so the exact and a compliment is not always such. So is usually a better, you know, bet to test at the embryo stage.
spk_1: 40:01
So now there's really no way to test. And so our individual exactly
spk_2: 40:06
is an individual. Eggs or sperm. Usually testing them is invasive enough that that that that your sperm is really usable. So you really have to wait until there's an embryo that's formed with multiple cells. Because remember, when the egg and the sperm come together, it goes from being one cell to over the course of the following days. Two cells for sells itself 16 cells against bigger and bigger and bigger, and not until it's reached that you know, 100 to 150 cells stage between days five and seven. Is it really safe for us to be taking away material to test
spk_1: 40:38
us all this Israeli Jesper angry of this?
spk_0: 40:41
I also want to ask. I know you're quite involved here and army with the research aspect. Is there any new research that you kind of want to discuss or anything world, Another question of beef. Any research
spk_2: 40:53
that you would like to do in the future? Yeah. So I think one area that a lot of research is gonna be going into soon as the idea of Moses is, um so that's sort of a big a big topic that could honestly be a whole podcast in health. Yeah, exactly. Sort of summarize on P g t a. So on the chromosomes, treating it is possible to get embryos where their results show some normal cells of themselves with the right number of chromosomes and some abnormal cells, some with wrong number of chromosomes, so a mixture instead of just one of the other. We see that in approximately 7% of embryos. So it sort of is this gray area normal, but not abnormal. And not until that we had that new technology changed the next generation sync with a couple of years ago. Could we detect that? So there isn't a lot of data on the safety or reproductive viability of those embryos. You know, we don't really recommend attempting pregnancy with them unless you have no other option or no other choice. So you know, if it is possible to do another Abby of cycle cream or embryos to try to get fully normal and bruises, they do that first. But, you know, we are in some situations, maybe going forward, going to be considering transferring some of the nose. And for patients who have no other option, there are some clinics in the city that that started doing that. You know as well this is gonna be interesting to see in the next couple of years. Research is exactly so far, it seems like those embryos have a much lower reproductive potential that much lower chance and implanting much higher chance of resulting in a pregnancy loss. Then using a fully use later, fully normal, Andrea. But there are a handful of line birds that have been reported, so it'll be interesting. Now, those babies, they're still very young, really under two years old. This is a fairly new finding. So it's, you know, we really don't have much information until we see long term development and see a lot higher numbers. But it's gonna be interesting to see where that goes. That's something that we're feeling very cautious about right now, but we want to see where it goes in the future.
spk_1: 42:53
And I could make a big difference about to hope. Maybe they have diminished very reserved there. Really? They have that on those
spk_2: 43:00
were the cases that we want to get the answers for. For those people where their only option is most people who have you played embryos, you know, that we're gonna use that was right. But for those patients that were, that's their only you know, the only way that they could possibly go. We want to get more answers. So that's where the research I think it's gonna be going.
spk_1: 43:17
That's something I think something. I know this is a little existential, have anything but something I think about a lot kind of Just being in this space is and sort of seeing the shift and advent of new technology is Is all of this going to dramatically impact our population? You know, we're doing testing and screening, and we're now kind of shifting so that we're able Thio, you know, have healthy pregnancies on Children for him without defects that may have been born with, and so is all of the signs of technology, you know, are we really sort of changing our population? I think it's fascinating to think about it Is that I think
spk_2: 43:54
about that a lot myself. I think right now, No, because it is on you. Think about it. A very small percentage of the population does IVF. Still,
spk_1: 44:02
what percentage is doing idea? I don't think they have. I feel like every after and I
spk_2: 44:11
have only think about the numbers they think Was it last year? I think it is somewhere between one and 4% of babies and New York City
spk_1: 44:18
arrives. Yes, so it's actually a very small number. Yeah, and in New York City it's hired, right? So is that a
spk_2: 44:26
number of babies being born through IVF is actually is in aggregate. It's a large number, but in comparison to the whole population is actually still a fairly small mouth. And I think that, you know, when I see understandably how much difficulty a lot of our patients have with the idea of having to do IVF, and the only way we're ever gonna really be changing our evolutionary track as humans is if everyone is doing IVF and I fund. At least right now, based on my what? I've seen our patients experience so far and maybe especially given right now. How time and emotionally intensive IVF iss. I find it hard to believe that everyone would it would ever be doing IVF thing is really
spk_0: 45:07
not in our lifetime at least is that technology
spk_2: 45:10
changes were become so much simpler. And right now I don't think it's in enough Berries of people to be significantly impacting. But I think in the people who are doing it, you know, we're really, you know, increasing their chance of success by a lot. Having a healthy pregnancy
spk_1: 45:28
on that thing to think about. Yeah. Look at what
spk_0: 45:32
we've accomplished here nine years. Yeah, wait to see what's ahead. So how you usually end our podcast is we talk about gratitude, everyone what we're grateful for today. So, Theresa, what at this moment, what are you grateful for? I
spk_2: 45:48
am grateful for I think especially, you know, in the middle of the winter I feel like it's always a little bit of bubbly time, and I'm grateful to be working at arm in tow have such great coworker surrounding me like you guys. I truly think it's a place that I'm happy to come to every day that I've been happy to come through for almost a decade so that today I'm grateful for that.
spk_0: 46:07
Yeah, it's still nice. Yeah,
spk_1: 46:10
I just stand, baby. You know, I felt like I was here pretty late last night came back very early this morning. But I feel grateful for that because I almost prefer when you're the breathing work, because it is you love it. You know, it's like I was here because I wanted to be. I came early because I wanted to and I too much to do. And I love that feeling of doing so inspired and wanting to be, you know, truly loving what I d'oh. So I almost in life, everything. When I left, I got like, I live in my office that I love, that I really love that feeling. And I think I feel you agree so great wanna have it and have such amazing people here on such strong, smart women. You know, I let us
spk_2: 46:49
socialize for Lieber things about our meds.
spk_0: 46:51
Oh, a lot to be grateful for, but at this, But when I was thinking I was We were talking about, you know, talking about high school. I want to give a shout out to my teacher. Mr. Dawson really was one of the hardest courses ever. But he really challenged me and maybe excited. I really do think that was probably the first time I was like, Wow, I want to do something in the science room. And then also just I'm so excited for what the research could do and where we can take all of this information and what new information we can get. So just idea of learning continuously doing research? I don't know much about this whole process. And so for me, it just opened my eyes to another area that I kind of wanna being were involved in and just more educated on. Yeah. Thank you so much, Theresa. You're welcome. Such a pleasure
spk_1: 47:47
having me. Thank you.
spk_0: 47:50
Thank you so much for listening today. And always remember, practice gratitude. Give a little love to someone else and yourself. And remember, you are not alone. Find us on Instagram at fertility. Underscore forward. And if you're looking for more support, visit us at www dot r m a n y dot com and tune in next week for more fertility. Forward