Daniela - Certified Genetic Counselor Part 1

[00:00:01] Welcome to Season 3 of You and Me, Kid, a podcast about starting and raising a family on your own. Where I speak with other single moms, those still considering, and experts in relevant fields to give you a real sense of what the day-to-day experience of solo parenting looks and feels like. So wherever you are in the process, I hope this podcast provides some support, helpful info, and most importantly, humor. Thanks so much for listening. Now let's get to it.

[00:00:32] So I think we should start at the beginning. So this episode really is, for the most part, focused on mamas who are looking to go through the facility process or in the IVF process and who are starting to navigate the world of genetic testing. What is it? Should I do it? What's the benefit of it? And not really knowing where to start. So, Daniela, thank you so much for being on the podcast.

[00:01:00] You are a certified genetic counselor with Seattle Sperm Bank, of course, the sponsor of the third season of the podcast. I'm also a Seattle Sperm Bank client, as are many of the folks that I interview on the podcast. Can't say enough good things about SSB. But thank you so much for being on. I so appreciate it. You're welcome. Thank you for having me. It's my pleasure. Can you just really go down to the one-on-one of what is a certified genetic counselor? What's your background?

[00:01:28] And what's your day-to-day actually look like? Great questions. Genetic counselors are healthcare professionals. And we are masters trained, and we utilize our training that is both in human genetics and also psychosocial counseling to essentially help patients and families who are dealing with genetic diagnoses or decision-making around genetics. So we do a lot of teaching.

[00:01:56] We teach patients about genetics, genetics 101. We help them understand genetic testing options. We do a lot of risk calculation, calculating risks for inherited conditions and families. And we assist patients in making informed decisions, ultimately, that are their decisions, but decisions that they can make in a really supported and safe environment with all of the education and the information that they need.

[00:02:22] Not many people out there have this specialty in training in genetics. And so when you're presented with needing to make really big life decisions, health decisions, reproductive decisions around the topic or through the lens of genetics, it's really helpful to have a genetic counselor who's got your back to teach you about it and help you understand all the information so that you can make a decision that's best for you or for your family. So that's what we do as genetic counselors.

[00:02:49] But like any type of medical profession, we can work in any sort of subspecialty. So there's a lot of genetic counselors who work exclusively in the cancer field. So there are cancer genetic counselors working with families who have inherited cancer syndromes. Or ocular genetics is a big field in genetics. So only working with patients who have eye finding and genetic diseases where there's eye disease. I specifically work in reproductive genetics.

[00:03:15] So I've worked for almost 20 years in the reproductive space, mainly clinically as a genetic counselor working with patients doing IVF and genetic testing on their embryos. But in the last four or five years, I made the transition here to Seattle Sperm Bank, which was always a joke.

[00:03:34] And when I left the clinical setting, so many of my single moms by choice or same-sex female couples or couples whose husbands did not produce sperm would utilize a sperm bank to achieve a pregnancy. And we had a plethora from which to choose.

[00:03:49] And just witnessing my patients' experiences through their interactions with the different banks and my professional interactions with the different banks, I was quickly aware of the fact that Seattle Sperm Bank rose to the top as ethically and efficiently, cost-wise. Sort of checked all the boxes as my favorite sperm bank, which is the joke that once I left the clinic and decided I wanted to get back into reproductive genetics.

[00:04:19] But on the bank side, I wanted to contact Seattle Sperm Bank to see if I could work with them because they were my favorite of all sperm banks. It's funny. It's a phrase you never think you're going to say all the time, which is like, my favorite sperm bank. But I also say the same thing about them. One of the questions I get all the time from women who are going through this process is, did you do this test? Did you do this test? Is the money I'm going to spend on this actually worth it? And I don't feel like in the moment, I don't know if I knew enough.

[00:04:48] I made the best guess that I could at that time. I really wish I'd known that you existed or some of the folks at Conceptions as well that talked through it. But it's a confusing part of the process and one that not a lot of people have the basic knowledge to understand, I think, in terms of genetics. Do we want to start with a little genetics 101? Yeah, I think that's a good idea. And the questions that you have are so important. And remember, it takes two to tango here. So there's always going to be genetic testing completed on the sperm donor.

[00:05:17] And so the question of do I, as an egg source, also complete genetic testing, it's an important one knowing that you're going to come to the table having some results on the donor. And most of the time, if you want to go into a pregnancy with as much knowledge as possible about potential reproductive risks, he's going to be a carrier for some genetic condition. And therefore, if you want that information, testing on yourself is going to ensue.

[00:05:44] But before we get through genetic testing and the different options and what's available to people who are in this process and on this journey, I think you're right. I think it's a good idea that we just back up a little bit and do a little genetics 101.

[00:05:56] And while we prep for that, the one thing I wanted to add is, and we were talking about this the other day, if you're just in the dating world and you're trying to have a baby or you have a partner, unless you go through the fertility process or if you meet somebody at a bar, you're not really going to have this information about somebody.

[00:06:14] So I see this as one of the huge benefits of choosing this path to creating a family because you're getting a lot more information about your own genetics, about the donor genetics, and I think strengthening your ability to start a family in a healthy way with this. And you wouldn't have had that if you were just like dating around and trying to meet somebody. Like you're not going to ask them to do genetic testing before you have sex. That is exactly right. This is one of the benefits, I feel like.

[00:06:43] Not only are we doing a lot of genetic testing on donors before we deem them eligible to be a donor here at Seattle Sperm Bank and at other sperm banks as well, we also thoroughly look through their family history. And this typically is not something that comes up on a first date. Let's talk about your family history. What sort of inherited genetic conditions are in your family? Because I'm using this as a qualifying factor for whether or not a second date is going to happen. Sure. But that is what happens here at Seattle Sperm Bank.

[00:07:12] And what we can do is maybe go through some genetics 101 just to get that out of the way so that when I'm using terms or you're using terms like chromosomes and genes and DNA, we all remember what those mean. Right.

[00:07:25] And then we can talk about what we do as genetic counselors on the day-to-day basis here at Seattle Sperm Bank and how our job is really to be that first line of defense for you all in making sure that when we're allowing donors to be a part of our program, we're doing so very carefully, knowing that we're doing our best to look through their family history, to perform genetic testing,

[00:07:50] and to choose donors who don't have a very noticeable high risk of an inherited genetic condition that could impact significantly the health of your babies. Yeah. Great. Okay, cool. Let's do genetics 101. Okay. Take me back to class. All right. Yeah, let's go back to eighth grade. So you might remember the term DNA and maybe you're thinking in your brain the picture of the double helix of DNA.

[00:08:12] So our DNA is really like our blueprint for who we are going to become, what we're going to look like, how our bodies are going to be constructed and made. It consists of about 20,000 genes, which is a lot of genetic information. And that information, this is the blueprint. These are the instructions for life. They have to be packed, that information, inside of every one of our nucleated cells, every cell of our body. And so cells are microscopic.

[00:08:40] And this is a lot of genetic information. So it has to be compacted and organized inside of each cell so that cellular machinery can utilize the information, decode it, create proteins, go through cell replication, and create us. So these 20,000 genes, importantly, have to be organized and constructed in a way that the cellular machinery can quickly go in and utilize it.

[00:09:07] So it's organized through these little containers that are called chromosomes. Okay. We as human species have a total of 46 chromosomes that exist in every cell of our body. And I like to think of the chromosomes like books. They're full of information. They're full of genes. So if you imagine a bookshelf and you have 46 books on that shelf, you actually have two copies of what we'll call book number one.

[00:09:37] And you have two copies of the second volume, number two. Two copies of book number three. On and on until you get to 22. We have 22 pairs of books that are numbered. And these are our chromosomes. So 22 pairs of chromosomes that are numbered. And then the last two books on the shelf or the last two chromosomes are called the sex chromosomes. And the sex chromosomes are called X or Y. Anyone who's born male at birth has one X and one Y chromosome.

[00:10:04] And those of us who are female at birth have two X chromosomes. That's what those books are. And this is one of the many beautiful things about genetics in our genome is that it exists in duplicate. So you have two copies of chromosome one, two copies of chromosome two, etc. One of those books or one of those copies came from the sperm cell that created you. The other copy of that same chromosome pair came from the egg cell.

[00:10:33] So we get half of our genetic information from the egg source or our mother's, the other half of the genetic information from the sperm source. If you were to look inside of those, let's say copy number one, look inside of chromosome one or book number one, chapter one is going to be basically the same in the mom inherited book as it is the sperm inherited book. There's only a tiny difference between each of the chapters and all of these books,

[00:11:01] all of these 20,000 genes written within the genome. It's pretty remarkable that we as humans are greater than 99.9% genetically the same. And it is just that 0.1% difference that makes us all unique and different. So this is a global picture looking at this bookshelf of our genetic information. We've got 46 chromosomes, half came from the egg source, half came from the sperm source. And when we do genetic testing on donors,

[00:11:30] the first line of defense is just to look at the bookshelf and give a count. Do we have two copies of every single chromosome? And do we see an X and a Y chromosome? Is this someone who was male at birth? Are there any arrangements, rearrangements of the books? Is there a big chunk of one of the books that's been removed and swapped with another chunk of another book? This is our first line of defense to make sure organizationally the chromosomes are intact.

[00:12:00] And so that's one test that we do on a donor. That test is called a karyotype. A lot of patients, maybe who will be listening to the podcast, may have completed a karyotype on themselves. Particularly, you did one too. Okay, particularly if you've had recurrent miscarriages, sometimes rearrangements of the books could lead to a genetic imbalance in a pregnancy that could cause a miscarriage. It's called a translocation. So that's our first line of defense, is to look at all of those books on the shelf

[00:12:27] or to count the total number of chromosomes through this test called a karyotype. Now remember, deep within every book, once you open the cover, there's a ton of information inside. This is our 20,000 plus genes encoded by our DNA. And the books are not all the same size. So chromosome 1 is the biggest chromosome. And the last number, chromosome 22, is essentially the smallest. So to give some context there, chromosome 22 has about 800 genes.

[00:12:57] But chromosome 1, if you were to look in that book, it has over 2,000. So all of those 20,000 genes are spread out throughout the chromosomes and organized and contained within them. The second type of genetic test that we perform on all of our donors who come through is a test called a carrier screen. The carrier screening test is to look inside of the books, to look inside of the chromosomes at specific genes that we know

[00:13:27] are associated with inherited genetic syndromes that could present in a baby. And these generally are pretty severe inherited conditions. And what we do is we run this test. We look at over 500 different genes, so 500 different conditions, genetic conditions, within the donor's genome from a blood test. And we identify in that test of all of those genes, which conditions he may be a carrier for.

[00:13:55] And I use the word carrier because this is an important distinction in a type of inheritance for genetic disease that's called autosomal recessive disease. You might remember that from eighth grade biology, maybe drawing the pundit square. It's like a little square, little boxes, and you're calculating a risk for a baby to be affected with some sort of genetic disease. These types of conditions that are inherited in this recessive fashion,

[00:14:23] what happens is in order for a child to be affected with the disease, they have to have a carrier mom or egg source and a carrier dad or sperm source in order to have the disease. Because remember, this beautiful protective effect of our genome is that we get not one, but two copies of all of our genes. And so to use another metaphor, if you think about your two copies of a specific gene

[00:14:52] being like two lamps sitting on your desk at your work, and you have no other light source in the room, you have two lamps. And one of them, the bulb goes out. You are still able to sit and write and type and work just fine because you have this other lamp working. It's shedding enough light onto your space for you to be able to work just fine. You don't actually need both lamps. It's the same with recessive diseases. For recessive diseases, we have two copies of a gene.

[00:15:21] And if one of them has a genetic variation in it such that it burns out, it's not working or it's not working to its full capacity. It's okay because we have a second copy of that same gene that's working just fine. It's like the lamp, the second lamp that's working just fine. So much so that most of us would just live our whole life being carriers of these severe genetic conditions and we never know it because we're not actually exhibiting symptoms of the disease itself.

[00:15:49] The only time you really learn that you're a carrier of these recessively inherited diseases is if A, you happen to have a child with someone who also has a broken lamp, who also is a carrier of that same exact genetic variant or same exact condition, and you both pass on the gene that's not working. Or you do something like what we do with the donors, which is go through a carrier screen.

[00:16:14] I think it's important to recognize that it is normal to do a carrier screen and for it to come back, quote unquote, positive. For it to come back and say, we screened you for 500 conditions and you are a carrier of these three. And this really is like what you said before. This is knowledge is power. So you're coming in and you're selecting a donor based on a lot of criteria. How tall is he? What's his level of education? What's his ethnicity?

[00:16:41] And do we have a match when it comes to looking at inherited genetic conditions? You're unlikely going to select a donor who happens to be a carrier of the same recessive disease for which you're a carrier. That's the beauty of being able to choose a sperm donor. That's not necessarily the case, let's say, for a married couple. Who's trying to achieve a pregnancy naturally at home. They're not going to say, oh, one of you is a carrier of the same condition for which I'm a carrier.

[00:17:09] And therefore, we're going to have to switch our egg or sperm source, which is certainly a possibility, but a little trickier when you're in relationship. Okay. So Daniela, one of the screens that I've been asked about a lot, and I don't actually really remember what I knew about it or the decision I made, but I do remember very clearly when I was searching for donors through the profiles, there was a box that said CMV negative or positive. Talk to me about CMV. What is it? What do folks need to be thinking about as they're making that decision?

[00:17:38] Yeah, CMV is so interesting. This is a virus. It really doesn't have much to do with genetics, but it somehow continues to land in our lap. So I'm happy to talk about cytomegalovirus and how it could relate to people who are choosing a donor and preparing to undergo this journey of parenthood with a donor sperm. So CMV is short for cytomegalovirus. It's a common virus. It's a herpes family virus, and there's no vaccine for it.

[00:18:05] In developed countries like the USA, we know that 50 to 85% of adults will have had this virus in their lifetime by the time they reach 40. It's a really common virus. It basically presents itself as a cold. So if you have CMV, you feel like you have a fever, you have sore throat, fatigue, maybe some achy muscles, and you're better in a week or two. So really, you're not being tested for it. You just say, I have a cold. I'm kind of laid out for a week or two.

[00:18:34] It's contagious while you're infected, and it can spread through bodily fluids. So urine, saliva, this is why it's rampant in kids' daycares, blood, tears, breast milk, it can pass through, and it also can pass through semen, which is why it comes into our category. So once you've recovered from the condition, you're no longer contagious, the virus lies dormant in your body for the rest of your life.

[00:19:02] And there's very little risk that you would have an active infection again, that you would have that same cold, that same symptoms of CMV again. If the first time someone is exposed to CMV is during a pregnancy, so I've never had CMV my whole life, I'm now pregnant, and I go pick up my kindergartner at school, and she's got some sickness. I now am sick, and I realize it's a CMV virus that's giving me these symptoms.

[00:19:31] I can pass the virus onto the pregnancy, onto my baby while I'm pregnant. That likelihood is about 30% to 40% of mom's viral infection passing to baby in pregnancy. Now, the baby, as a fetus now growing in my body, has CMV like me. Most of the time, those babies will go on to be healthy babies at delivery. The majority of babies who experience a CMV infection before birth are healthy and developed

[00:20:01] However, 10% to 15% of those babies who had that first CMV infection in utero, they will be born with birth defects or experience other health problems as a result of the virus in pregnancy. And some of those things include something called microcephaly, which is a small head, hearing loss is big, developmental delay, vision loss, low birth rate, etc.

[00:20:26] So these are all preventable if mom didn't get the infection in pregnancy, which is really tricky to do. And a lot of pressure for us women when we're pregnant to say, don't get sick. Yeah. But remember, this can be passed through bodily fluids like semen. So to reduce the risk as much as we actually have control over, many of our clients, they have their CMV status tested with their doctor.

[00:20:54] Have I ever been infected with this in my life or not? Most are going to be CMV positive. They've had this at some point in their life. It's lying dormant in them. And therefore, the likelihood of getting it again is really low. If you test and you're CMV negative, you're at risk of getting this virus. And so the one big thing to think about is during pregnancy, I should do my due diligence about washing my hands and trying to stay away from people who are actively sick and are contagious.

[00:21:23] Another thing that you can do is avoid a donor who's CMV positive. So a lot of people who are CMV negative looking for a donor are also going to look for a CMV negative donor. Now, all that being said, when donors come to our clinic to become donors, they're given an initial CMV screen to determine their CMV status.

[00:21:50] If the donor happens to have an active infection, remember, you only can spread it if you're actively infected, then we throw away all vials that we have. And the donor has to come back and be retested and not have an active infection in order for us to keep vials. OK, so the vials we have, even for donors who are CMV positive, are not actively positive with CMV.

[00:22:18] So they're deferred for donating until they no longer have active disease. Then they can resume donating. They are continually tested every three to six months for their CMV status. That falls within the FDA requirement, quarantine period. But just as an extra caution, even though our donors who are CMV positive don't have active disease, just as an extra caution, a lot of clinics will say, if you're CMV negative, just

[00:22:46] avoid a donor who is CMV positive and utilize only the donors who are CMV negative. It will narrow the pool of those you have to choose from because remember, most of us are CMV positive because we've been exposed to this virus at some point in our life. Got it. So almost in the opposite of what we were talking about before, most likely you will be positive and a lot of the donors are going to be positive. So in this case, a positive and a positive is a good thing. Yeah, exactly.

[00:23:13] It's really a double carrier is a good thing on this front. But if you are CMV negative, you should look for a donor that is also CMV negative. Got it. Okay. Great work. Great work. Thank you so much. Different clinics will have different recommendations. You know, some may say that's overkill. It's okay if you found a donor who's CMV positive. We know he didn't have an active infection at the time of his donation and we're okay with that. So talk to your doctor because each clinic is different.

[00:23:39] But in general, that's a good overview of CMV and how it will relate to helping people select a donor. That's right for them. Perfect. I want to just repeat a couple of things I just heard you say. First of all, I don't really have a memory of learning genetics in whatever that high school or middle school, but I assure you it was not as clear as that. So kudos to you at the age of 43. I feel like I'm just learning. So that's amazing.

[00:24:07] Season three of You and Me Kid is brought to you by Seattle Sperm Bank. If you're planning to become a single parent by choice, you know this journey can be both exciting and daunting. That's where Seattle Sperm Bank comes in. They've got an amazing selection of donors and a super supportive team ready to help you find the right match. They were so warm, helpful, and kind to me as I picked my donor. I cannot recommend them enough. From the screening process to all the resources they offer, I really felt like I had an expert partner through the whole process.

[00:24:35] For my listeners who want to check them out, head to seattlespermbank.com and grab a free all-access pass using the code YOUANDMEKID to start your search today. Okay. What I heard you say a couple things that are really important because I think folks are going to see carrier screening on the donor profiles, right? And they're going to hear that phrase a lot. One, you, if you get a karyotype and you are a carrier for something, that is not necessarily a bad thing at all.

[00:25:04] If the donor is a carrier for something, that is not necessarily a bad thing at all. In fact, it is normal for both of you to have that. What you're really looking at is that match going to have an impact on the potential embryo. So don't be scared if you see positive on your end or their end. What you're looking for is how they pair up. Am I hearing that right? That's exactly right. The only thing I'll correct there is that you had said a karyotype. Remember the karyotype is the picture of the books. The carrier screen is looking deep within the books at the genes.

[00:25:33] So you're exactly right is that if you undergo a carrier screen and you are determined to be a carrier of cystic fibrosis, for example, which is one of the most common recessively inherited diseases, then when you're going to find a donor, you want to ensure that the donor is not also a carrier of cystic fibrosis. Because if he is a carrier of CF, cystic fibrosis, as are you, and you achieve a pregnancy with

[00:25:59] that donor, the risk that your baby would have that disease is one in four or 25%. Wow. And so to avoid that risk, you just choose a donor who's not a carrier for the same condition for which you're a carrier. And Seattle Sperm Bank, and I'm sure most or all other sperm banks have an option when you're sorting through and narrowing down your list of donors to filter for donors who are not carriers of the same diseases for which you've been identified as a carrier.

[00:26:29] You could click a box that says, I want to see all donors who are not carriers of cystic fibrosis, for example. Oh, wow. From the get-go, you could see that. That's amazing. You don't even have to wait until you go through the screening. When you all decide who is eligible to be a donor, and Courtney Maddox from SSB and I spoke, I believe in season one, at length about eligibility of donors. And I think there is absolutely a misconception that it is easy to be a sperm donor. Anyone can do it.

[00:26:58] And you're just picking from this list of whoever, whatever, and what's their motivation. I think there's just this very negative story around sperm donors and who they are. And I feel very differently about the truth of that. And Courtney did a great job of explaining how difficult it actually is to become a sperm donor. Can you talk about even further into that, how you all decide who can be eligible based on the genetic component?

[00:27:22] Yeah, that's a really good myth for us to break apart here because I'm constantly finding myself saying to donors almost daily, thank you so much for your interest and for all of your time. Please know that less than 1% of men who try to be a donor here at Seattle Sperm Bank are going to make the final cut. And that's just because we have such stringent policies that we adhere by to make sure that

[00:27:47] we really have the cream of the crop and that we have really healthy, great rounded donors who are doing it for the right reasons, have a clear family history, don't have genetic screens that we know impart a significantly elevated risk for children to have lifelong complications and chronic medical diseases. And so I think that's an important thing to highlight. I'm glad you brought it up. From the genetic lens, I'll give you a few examples of how we would, there are situations

[00:28:16] in which we would need to decline a donor. One of which I just did a few days ago where a donor had made it through family history review, had started to go through medical tests at the same time we ordered a karyotype and carrier screen on him. And then remember the carrier screen, it's a reproductive screen, mainly looking at these recessively inherited diseases. But this is genetic, so it's complicated.

[00:28:41] And occasionally there's a recessive condition for which only having one lamp on the desk work, it's not quite enough light. So you can actually have some symptoms, albeit more mild, if you're just a carrier of a condition. So this donor had come through, was a wonderful donor, great guy. And we noticed first that he had slightly elevated cholesterol on a cholesterol panel for otherwise being a young and very healthy individual.

[00:29:10] Then his carrier screen came back. And on his carrier screen, it noted that he was a carrier of a genetic variant in a specific gene called the LDLR gene. This gene is important in metabolism of cholesterol. And it is associated with hypercholesterolemia, familial hypercholesterolemia. And that means inherited form of high cholesterol. And this isn't just mildly high cholesterol.

[00:29:37] It's high enough cholesterol that there's an elevated risk of coronary artery disease, early heart attack, et cetera. And so it was already evidenced, despite his young age, in his medical exams that we were doing, his high cholesterol level. And we knew why he had a high cholesterol level, because we had seen this on his report. And he did not have two genetic variants. He only had one. Only one of the two lamps wasn't working. But it was enough that he was clinically symptomatic.

[00:30:04] We don't allow donors to donate who are LDLR carriers, because just being a carrier is enough to be symptomatic and imparts a lifetime risk, higher risk of serious disease, like a fatal heart attack. And we had to call him and explain it, refer him to a cardiology, to a cardiologist, and then ultimately deque him, disqualify him from the program. So that's one small example of how we would decline a donor just from looking at the carrier screens.

[00:30:34] Although most of the carrier screens, when they come back, as long as the condition or conditions for which the donor is a carrier are not associated with symptoms, then those donors are allowed to continue to donate. Okay. This is, of course, Sarah, if they've already passed a family history inspection that we do before we order the extensive genetic tests on the donor. This is an interesting point that you brought up the other day that I didn't really realize.

[00:31:02] So before we talk about the big ones you guys are looking for and what would make someone ineligible, because I do want to talk about those, there's this component where the genetic testing of the donor and the family history start to pair up. And there are times where being eligible or ineligible is actually determinant upon a family having that genetic disease or component and it also coming up in the genetics.

[00:31:32] So tell me how those pair, because it's not just like we're doing this and we're doing this. They're not in silos. They work together for the profile. They definitely work together. So when we think as genetic counselors, when we think about genetic conditions, medical conditions being passed along in the family, so inherited in the family, there's different modes of inheritance. So we've already covered the recessive mode of inheritance, which if you look at a family

[00:31:56] history is actually a horizontal transmission of, or a horizontal appearance of disease in the family. My husband and I can both be carriers of the same disease, but we don't have the disease, but our children can have the disease. My daughter, my son, my other son, they could all have the same disease because of mom and dad's genetics. That's recessive inheritance. We generally do not see this in family histories. Again, going back to that protective effect of how we as humans get to have two copies of

[00:32:25] all of our genes. And so doing carrier screen is really the only way that we can get good insight into whether or not there's a risk of a recessive disease. Other forms of transmission of inherited genetic conditions are things like X-linked diseases passed just on the X chromosome or dominant diseases, meaning I have just one genetic variant of the two genes and it's enough to give me a disease.

[00:32:53] And I have a 50% risk of passing that variation onto my children. And then they will have a 50% risk of passing it onto their children. That's a vertical transmission of disease. And a lot of times we can have suspicion of these types of conditions by just elucidating a strong family history from the donor and looking through the family history, asking appropriate questions based on clues that they can give us, that the donors give us.

[00:33:18] So we get a three generation family history from every donor who applies to donate. And then we follow specific guidelines or guidance from the American Society of Reproductive Medicine or ASRM to determine the eligibility of specific donors based on their specific family history. For example, one of the eligibility criteria is that we do not have strong suspicion of a dominant disease in the family.

[00:33:48] And an example of this that came up fairly recently also is I had a donor who came through and said, I have my grandmother on my mom's side and my mom's sister, my maternal aunt, they both had breast cancer at young ages. And I think they actually have a gene change that has caused their breast cancer.

[00:34:13] Just hearing that information tells me his mom has a 50% risk to also have that same genetic change that elevates her lifetime risk of cancer. And if she had it, a 50% chance that the donor would have it. And then if the donor had it, there's a 50% chance that any child conceived from this donor could have this deleterious genetic change that would increase of life that would provide a lifetime increased risk of cancer.

[00:34:38] I could have automatically just DQ'd him based on that information, but he was really great. And I said, I really want to learn more because I think that you would be a great fit. You're a great donor. The rest of your family history is looking good. And if we could identify the genetic change in the family and then later learn that you did not inherit it, then there's not an elevated risk for your children to have this genetic change or have an increased risk for cancer.

[00:35:05] Through additional testing, conversations with grandma and aunt and mom, it actually turned into this beautiful scenario in which case the mom had always wanted to know her genetic status, but had no idea how to go about it, ended up getting tested, did not have the same genetic change that had been identified in the aunt once we were able to get grandma and aunt's reports.

[00:35:30] And then therefore the donor didn't even need to undergo testing himself because we know that the flip of a coin that happened at the time that his mom had been conceived landed in her favor. So he was able to be passed despite the fact that he did have a family history of an inherited cancer syndrome because we knew that it's not skipping generations. His mom did not have it and therefore did not have it to give to him. That's really good to know because I think when you, I'll speak for myself, when I was on the

[00:35:58] profiles and I'm pulling up family history, I'm like, how much can I really trust this? Is it someone just trying to remember if their great grandma had heart disease or something? And I don't know my family history that well. So I was just like, how much can I really trust this? But I'm a little bit blown away by the level of investigation that you guys are doing for each donor just to make sure they're eligible because I feel, I continue to feel better and better about having a donor as part of my fertility journey.

[00:36:26] And this conversation is making me feel even better about it. So. Oh, I'm so happy to hear that. Yeah. So there's a lot of criteria that we follow when we look through a family history to assess for eligibility. That's one example. There's many other examples we could go through. But just to give everyone an idea of what the criteria states and what we follow, things like a major malformation of complex cause in a donor.

[00:36:51] So a donor who reports that he himself was born with a cleft lip or had a neural tube defect or a major cardiac abnormality, a heart defect at birth. Most of those things are not caused by one single gene that we could target and test for or look for. It's a complex etiology or cause. Lots of genes involved, environment involved. But when we look at the empiric studies, we do know that there is an elevated risk for that same thing to happen in the offspring of that donor.

[00:37:20] And that's enough for us to say it's not worth it to take them as a donor because that would put the babies conceived from him at risk. Then we give the donor counseling on this. We say, thank you for sharing this. You're not eligible because these are the boundaries at which we're practicing here at Seattle Sperm Bank, but also for you. When you're ready to have your own children, if you haven't yet already, these are things that you should be aware of. It may be that there's a reason, even through your own insurance, that you're going to get

[00:37:48] coverage for extra scans in pregnancy to look for heart development because we're worried about an elevated risk of a heart defect based on his personal history. So those types of things we will decline a donor for. Donors with a personal diagnosis of autism spectrum disorder or with a first degree relative, so a sibling, a child, or a parent who is on the autism spectrum are declined because

[00:38:14] we know, although there's complex ideologies also for autism, we do know that there is an elevated risk in close family members. And so we do have to decline those donors as well. Those with serious medical conditions, with signs that impact the quality of life significantly and do have a genetic component, so risk above baseline general population risk, things like

[00:38:39] epilepsy, type 1 diabetes that will require a lot of extensive medical care and cost throughout one's life will decline those donors as well because we do know the risk for their children to experience the same disease or have the same diseases elevated. I think you're on mute. Beyond medical diagnoses, you mentioned the other day that there's also this complementary

[00:39:08] area of mental health, alcoholism, things you're looking for that might not be genetic. How does that play into eligibility? Yes. So there's a whole section of the same guidance that we follow that is adhered to by our in-house psychologist. So all of our donors also meet with a psychologist to have a lengthy conversation really about their

[00:39:36] motivations of being a donor, to assess their maturity level and understanding what it means to become a donor, that at the end of this, there are going to be human, hopefully there will be human beings involved, and to assess their personal and family history of mental health conditions. And so the guidance does state that if the donor himself has a major psychiatric diagnosis,

[00:40:01] so major depression disorder, depressive disorder, bipolar disorder, schizophrenia, etc., they are not eligible to donate. If they have a first degree relative with any of those conditions, they are also declined. And we in genetics review family histories before we pass the donors onto evaluation by our psychologist. So when I see that in the family history or talk to a donor, I'll decline him before I even send him to the psych department.

[00:40:30] Substance use disorders are also reasons for declining. That is for two reasons. One, we do know that there is some genetics involved in substance abuse disorders, that there is an elevated risk for them to recur in families. It's complex. It's polygenic. So there's lots of genes involved, but it's also environmental. If you grow up in a family of substance abuse, there's a higher likelihood that you will experience it as well. That's your environment that was shown to you.

[00:40:58] But it's not always for certain. This isn't 100% inheritance. But because genetics plays a role, and also because it plays a role in the stability of the donor himself. If the donor himself has a diagnosis or a prior diagnosis of alcohol abuse disorder or substance abuse disorder, he's declined. If he has more than two first degree relatives with substance abuse disorders, so two or more.

[00:41:25] So let's say a sibling and a parent who have a diagnosis of alcohol abuse disorder or substance abuse disorder, he will be declined. And then there's a plethora of other reasons why a donor would not be suitable to donate with us. That is reviewed by the psychologist during the mental health screen. It seems like the combination of analysis, first of all, these guys are really signing on to

[00:41:54] quite a process, which I think just says a lot about the commitment. It's not something that they're just going to do to make some fast cash. This is very in-depth medical testing, psychiatric meetings and appointments. And it also seems like there's this combination of both data and qualitative information that you guys are getting and the quantitative information that you guys are getting. And then a lot of in-person interactions that are more qualitative and subjective of just,

[00:42:21] are we getting the right sense that this person has the right motivations? Are they ready? Are they able to really understand what this decision means? And that combination, I think, could potentially provide a lot of confidence for someone who's questioning what a sperm donor is thinking or who they are, if they want to bring that component into making an embryo. Yeah. And it's hard to get this point across unless you were really here in the office.

[00:42:48] If it was an hour ago, you would have seen the donut sitting on my desk, which is no longer because one of our donors brought us donuts this morning when he came in. We really develop relationships with these donors because you're right. It's not a one and done situation that they're signing up for. They're coming in frequently for their donations, for an update on a physical, for new blood work we need to have them complete. And even when they're retired or they stop donating, they're still essentially a part of

[00:43:16] our program forever because we reach out to them every year with medical update questionnaires and information that we need to update their profile and to keep in touch with them. Because once children conceived from our donors reach the age of 18, if they so desire, at some point after that age, they're allowed to contact the donor. And the donor has contractually agreed to have at least one interaction with any of his donor conceived children. And so we need to keep in touch with them. Yeah.

[00:43:46] That's incredible. I think as we transition a little bit to the embryo testing, I want to say a couple of things. One is if you are considering using donor sperm, the resources that exist at a lot of sperm banks, but specifically Seattle Sperm Bank are pretty incredible from helping pick a donor based on the characteristics that are on that profile to if you have a genetic condition that you know about, if you didn't know you had one and you maybe just had some genetic testing

[00:44:16] done and you need someone to really walk you through that and also help pair you with a donor. That is a safe choice for you. You guys can walk someone through all of that. So you don't need to just go online, look at pictures, Google what some of these genetic conditions mean and make a decision. There's a whole team of people that can really help walk you through it and make you feel like you're making an informed decision. Absolutely. Genetics is very complex. You can leave it to us.

[00:44:43] You've got a lot of other things that you need to do on your journey to parenthood. I want to say as we're wrapping up this conversation about family history and we went through carrier screening, which we could do ad nauseum, I want to just pull out a couple of highlights. One, we just spent some time talking about why and how we decline donors from family history. I want to just focus for a moment on those who we do accept.

[00:45:09] I get nervous if I see a family history and everyone is healthy because that is not reality. That's not the reality of my personal family history. It's not the reality of your personal family history. And it should not be the reality of any of our donors' family histories. When that happens, we dig a little deeper. We call the donor. We ask more questions. And a lot of times these are young donors. Their parents are young. Their aunts and uncles are young. So a lot of those adult onset conditions that generally are happening, 60s, 70s, and 80s,

[00:45:37] may just not have appeared yet in some of his close family members. But there will always be something. And so what we as genetic counselors will do once we decide that a donor's family history is passable, we'll write paragraphs about the things that did come up in the family history. So for example, if a donor himself has allergies, we know that there is a pretty high heritability of allergies. It's not enough for us to say, this guy can't be a donor.

[00:46:06] And so we'll put in the donor profile, the donor himself has seasonal allergies or he reports allergies to cats or to dogs, whatever it may be. And then we go through a description of what the recurrence risk will be in his children. So specifically in that example, the risk is up to 25%. So then you go into a pregnancy utilizing this donor, knowing your kiddo has about a one in four chance of having allergies, just like his biological father or her biological father.

[00:46:33] This is making me want to go back to the profile because none of this I read at the time. And all of the families that share my donor have a spreadsheet also that has a list of any medical conditions, allergies that all of them have or report. So the combination of that is helpful, but this is making me want to go back. Oh, we should just do it together. And read your report. I know we should do it together. I'm at work. We can pull them up. Yeah. And so we'll quote all of this information or quote the recurrence risks in the family history. So ADHD is a big one.

[00:47:03] The guidance does not say we need to exclude, but it's a case by case situation. Depending on the rest of the family history, what other neuropsychological conditions may or may not be present. If we have a donor who he himself has ADHD or has a sibling with ADHD, attention deficit hyperactivity disorder, we will put in there a recurrence risk. And there is a recurrence risk of about 20% in first degree relatives of people who have ADHD.

[00:47:32] So if he has ADHD and we've passed him, we will be transparent about that information and say the likelihood of this occurring and children can see from this donor is as high as 20%. And I bring all this up because we don't hold back in these paragraphs. We have lots of paragraphs for each donor. And I think this can be really helpful to know if you're coming to the table and you're trying to make a decision about a donor.

[00:47:59] And you remember only half of those books on the bookshelf are coming from the donor. The other half of the chromosomes or genetic information is coming from the egg source. So I have a lot of patients who look at the family history information and they say, clearly he's passable and clearly he's a great donor. But he does have a lot of family members with high blood pressure. And so do I. I have high blood pressures all over my family tree.

[00:48:24] And when I take my genetic information and the genetic information from the donor and create a child, I feel like that elevated risk of hypertension is going to be above what I'm comfortable with. Or I had a parent who died from cancer and there's no genetic testing that is revealed and inherited cancer syndrome, but I know my risk is higher. And the donor has some cancer in his family. I'm just going to stay away from donors who have a family history of cancer, diabetes,

[00:48:52] hypertension, whatever it may be, those multifactorial conditions that we all are going to have in our families. You can utilize that as maybe another tool to help choose a donor whose family history is as distinctly different than your own family history as possible. Yeah, use you guys to put as many of your concerns at ease as possible. Use the data. Use the folks who have interviewed and met these folks who are getting donuts from them. You guys really get to know these guys.

[00:49:21] And so I think really reaching out and sharing as many concerns, whether or not you feel like they're medical or just something you've been thinking about, I think is really valuable to help you get all of that peace of mind in what can be a very complex and confusing process. Thanks so much for listening to today's episode. I hope you enjoyed it. For more information about the podcast or me, go to youandmekidpod.com. See you soon.

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