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Genetics is nobody’s baby—or at least this week’s guest seems to think so.
Dr. Mili Thakur, an REI, geneticist, and consultant through Genome Ally, joins us to break down the gaps in genetic testing, the impact on patient care, and why ASRM and others must step up to set industry-wide standards.
Tune in to hear:
The risks inconsistent genetic testing poses to patients and clinics.
How the lack of standardization creates unnecessary workflow burdens.
Why genetic discrepancies hurt patient retention and third-party treatment conversion.
The missing tools needed to improve third-party IVF programs.
Dr. Thakur’s call to action for genetics companies to step up and lead the charge.
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Dr. Mili Thakur (00:03) An amazing opportunity for the field would be to recognize that genetics is here to stay, that we should address these risks, that we should train young professionals, that we should provide more investment in that space and provide support to our labs. Like all the labs, whether they be PGT labs or carrier screening labs or product of conception labs, they should be supported. They're industry, but they do need our support. in terms of guidelines. Griffin Jones (00:40) Genetics is nobody's baby. My guest sometimes feels like that from her bird's eye view, yet so much of the future of third party IVF and IVF at large depend on genomics. Dr. Mili Thakur is an REI, she's a geneticist, she practices at the fertility center in Grand Rapids, Michigan, and she's a consultant on complex cases for fertility centers across the country through her consultancy Genome Ally Dr. Thakur says all of the PGT labs, carrier screening labs, gamete banks have different standards, tests, and definitions. She gives examples of the risks that these discrepancies bring to patients and consequently clinics. She shows how the lack of a common standard increases workflow for providers and patients. And you can see how these examples negatively affect patient retention and conversion to third-party treatment. Dr. Thakur calls on ASRM and others to set standards and guidelines for genetic testing in IVF and third-party IVF, and she shares the missing tools needed for fertility centers to be able to increase their third-party IVF programs, increase the quality of care, and improve the patient experience. Will you be involved in this center of excellence that Dr. Thakur calls for? I'm glad My Egg Bank made this interview possible, even though they didn't have control over its contents because they're committed to the field. They're invested in quality in their genetic screening, but I'm calling out the PGT labs here and the carrier screening labs here. Genetics companies, you all have been awfully quiet the last two or three years. You've been playing defense. The current state of genetics is a barrier to scaling IVF. Go back on offense, show your commitment. to the field, show us what you're doing to make it safer and better and give a platform to professionals like Dr. Mili Thakur. Griffin Jones (02:46) Dr. Thakur, welcome very pleasantly back to the Inside Reproductive Health Podcast. Dr. Mili Thakur (02:51) Thank you, Griffin. I'm excited to be here. Griffin Jones (02:54) It's great to have you back, Mili. I want to say this is your third time. What are the issues that clinics are facing today regarding genetic testing for third party? Dr. Mili Thakur (03:06) I think we have a few ongoing issues that we've had from the beginning of this whole portion of third party reproduction. The first one is I think the discrepancy in the different type of carrier screening panels that are being used for screening of donors, whether it be like sperm donors, egg donors, different clinics and different banks are using different carrier screening panels. And what it does is from time to time, you would have recipients who would need to be retested based on what the donor was tested for, because the clinics that are using the carrier screening for the GEMI donor, or the bank that is using it, they are using different panels. And I think that adds to the workflow, it adds to the frustration. And then the second issue that I think is very core of what donor conceived persons are looking for is there is no standardized way right now for us to have medical updates be communicated, whether it be communication of a health issue that came to a donor or whether it was like one of the children or offspring that was conceived through the use of that donor gamete, if there was an update, if there was a medical illness or some sort of a family history that arises from that conception, we don't have a standardized way of informing the banks and then also a standardized way of how the banks communicated back to the donor and also the sensitivity of the matter of like how multiple families can be affected if there is like a a medical update that comes from a genetic condition that arises from a child that was conceived using a donor. So those are your primary two main crux issues. I think another issue is also we need guidance and ASLMS provided some guidance, but of how or which conditions in genetics that we are screening these donors for, which conditions are... contraindications or exclusions for the donor in a very strong sense of a way, and then which conditions are to be dealt with case by case. And every bank, every clinic is right now dealing with those issues on their own internal levels. And every bank is deciding what they're going to be doing. So we don't have a standardized way of how or what constitutes an additional medical risk. How do we provide that safety to the recipients? that we all agree on those guidelines of like these conditions are an exclusion. You know, there is some guidance from ESRM, but I don't think we have like stringent guidelines. And then another thing that I would like to bring, which is like being brought up a lot from the donor conceived persons is that they are looking for open identity donors. Like what that means is at least one option of contact when the donor conceived person is 18 or more, they're looking for one contact or one phone call or one email with the donor so they can get some sort of medical update from the donor and have that connection. And I don't think there is a standardized way of how we are taking care of that at the current time. Griffin Jones (06:28) Tell me about every bank and every clinic deciding what they're going to do, know, assessing if there's an additional medical risk. What are the implications of that? How does that look specifically in the real world? Dr. Mili Thakur (06:41) So I think if you look back at the guidance that ASRM has provided, there are certain things that we all agree on that should be looked at in a donor. So most banks and most clinics are obtaining at least a three-generation family history, and there is clear guidance about infectious diseases because FDA has the oversight on that, and there is guidelines of which conditions have to be tested. Those guidelines get updated pretty quickly, so most labs are doing a pretty good job. But when it comes to like genetic testing, if you look at the guidelines, the three conditions that the ASRM mentions that every donor has to be looked at and has to be excluded for like cystic fibrosis, spinal muscular atrophy, hemoglobinopathies, and then for egg donors, fragile eggs, you know, should be tested and they should be excluded. But in the real world, that is very less conditions. when this is like a... situation involving donors, even for like other couples who are trying with their own gametes, we use panels that are now ranging between 100 to 600 or 700 disorders. So in terms of like donors, when these expanded panels are being used, different clinics and different banks are deciding which panel they are going to use it for. And if the... GEMI donors, that means the sperm source and the donor or the egg donor and the sperm source are going to be tested by different panels, then you really need genetic professionals to be able to match those panels correctly, because there is conditions that they may not match for, you know, or there might be some conditions that are one panel and not the other. So because there is no standardized way or guidelines as to which panel we agree on. ACMG has done an amazing job and come up with 113 conditions that they think should be on all panels. However, in IVF clinics, most of us are using panels that are larger than those. And it just depends on what the clinic or the network has decided to use the panel, those panels would be bigger. And the same thing between different banks, they use different kind of panels. So, you know, there is a huge issue with this not matching up and either the recipient needs to be retested, which is most likely what we end up doing, you know, or there is additional workflows that needs to happen. Plus also there is a chance of missing some sort of a safety risk. if the person who is matching those panels for that individual is going to be a non-genetic professional. Griffin Jones (09:31) So what do REIs typically do in that situation? Do they just kind of go with whatever the lab says to them? Who do they defer to? And then what do they do next? Dr. Mili Thakur (09:44) So I think for most of the REIs who are working in a practice or a network will have a donor coordinator or a donor coordination team. so in those practices where there is a donor coordinator, I think it is one of the job description in their center to be able to pick up that risk and then address it with an appropriate, either a genetic counselor that works on that network or bring it up to the REIs attention that, you know, the donor is tested by a smaller panel than the recipient was tested, right? So most of us would like in an ideal way to be able to only work with one egg bank and one sperm bank and we match the panel in our clinic, but that doesn't happen in reality. When you're looking for a donor of a certain ethnic background or some sort of like additional things, then you have to go to multiple other banks, also from the recipients. You know, they're also doing financial calculation at the back end and they might not want to work with just one choice of an egg in a sperm bag. So if you're going to work with multiple banks, either we come together as a field and define that standardized panel that we all agree on that these are the few hundred conditions that should be tested for in everybody. And in an ideal world, make that happen. Otherwise we strengthen our donor coordinator. teams, you know, there should be a genetic professional that should be available to them, whether it's like an in-house genetic counselor, whether you rope in, you know, outside genetic counseling services or work with somebody like me, you know, who has the know-how of being able to tackle those kinds of issues. Griffin Jones (11:28) You talked a bit about how that adds to the workflow. For example, the recipient needing to be retested. What other additional workflow it comes about from this sort of thing and what does that do to the provider and support staff? Dr. Mili Thakur (11:44) Yeah, so I would like to highlight that with the patient story. So recently I saw a patient who was going to be using an egg donor. And the reason of them using an egg donor was that both of the partners are carrier of mutation in one of the genes, right? So they first tried to do a PGTM with their own eggs, but the woman has diminished ovarian reserve, so they only made two or three embryos. All of them were affected or raneuploid. So they couldn't transfer those embryos. Now they were looking for an egg donor and this male partner was tested by a big panel. He came back as a carrier of the condition that was already known. But when the female partner looked at the test report, it looks like that that particular lab has actually has like some sort of a deficiency in looking at that particular gene. every... carrier testing lab has its limitation technologically. So this gene actually was listed as a limitation and they basically wanted to make sure that I test the egg donor now with a diagnostic test instead of a carrier screening test that matches the panel. So the fine print of these carrier screening panels have to be understood. What I mean by that is it's not just the number of conditions on the balance which we are requesting should be matched, but also we have to understand that not all genes on those panels are done with the same amount of technological, you know, accuracy. There are some genes that have pseudo genes associated with them or can have other limitations. And in those cases, you know, you can miss some sort of genetic risk. So the workflow around that is having enough support in that workflow, we should have processes in place where we can pick up those issues in a more streamlined way. So the intake history of the donor, the intake history of the recipient, making sure that there is... no areas that are going to be missed just because different sorts of like questionnaires were used or there was a questionnaire that was screened one place in a paper chart or in an electronic medical record, but the whole picture doesn't come together. So there should be, we should be using tools and we should be using, you know, resources to be able to pick up those risks and be able to address the risk for every single condition that is of concern. Griffin Jones (14:11) As genomics and third party IVF become further woven together, clinicians need the confidence of working with egg banks that are maintaining the highest industry standards in genetic screening, an area that My Egg Bank is very proud of. In other words, from people that are very familiar with the issues that Dr. Thakur is describing, not just because they're reading about them, but because they're going through these same issues themselves. My Egg Bank requires all egg donors to undergo genetic carrier screening in accordance with guidelines from ACOG, ACMG, and ASRM. My Egg Bank mandates a genetic risk assessments by a certified genetic counselor for all egg donors, incorporating minimum three generation family history review. The donors reported personal and family histories encompassing medical, developmental, and psychological factors are summarized in a detailed report for a clinical review. Donors may be excluded if their history suggests an elevated risk for serious conditions beyond standard background risk. If your clinic is looking to do more third-party IVF, check out the resources that MyEgg Bank has for you. Go to myeggbank.com/clinics. That's myeggbank.com. You mentioned limitations for carrier screening, specifically technological limitations. My uneducated view would have been everybody's got the same technology and you wouldn't expect some people to have certain limitations more than others. Tell me about why that isn't the case. Dr. Mili Thakur (15:41) So there's a few things that go into the technological limitation. One of them is the methodology that is being used and what is the assessment of that particular gene. So what I mean by that is, for example, most labs are going to be able to, most carrier screening labs are going to be able to sequence for most all the genes. But when there are specific genes that have nuances about their testing, different labs may have limitations about reporting out on that particular gene. And also, is like different labs will have different ways of confirming that test result. So for example, we all know that cystic fibrosis is an important gene. they will be able to sequence the whole gene. most every lab is able to do it. But when it comes to reporting out the 5T variant or the AGG reflex testing, different labs are taking different times because either they have the capacity to do it themselves or they send it out and then report it back. The same thing with like for your AGG interruptions with fragile X gene. Most of the labs are sending it out to a third party and it takes some time to get those reports back. for that particular variant to be tested. Then you have internal databases. All of these labs, the way they report out the analysis of that genetic test is the databases that they go back and reference the mutation that they are finding out. And right now a big issue in our field is that the carrier screening reps are using different types of terminology to report out those test results. So if you look and compare head to head these different carrier screening labs, some of them will report out the C dot, which is the DNA change. They will report out the P dot, which is the protein change. And then some of them will give you the common name of the mutation. There are some famous common names that we all know about, and they will report it out a certain way. Other labs will just give you the C dot and the P dot. And then if you go a few pages down is where they will explain what the variation is. Another thing that we have kind of found an issue is that some of these labs, because of their databases not being up to speed to what it should be for like diagnostic testing labs, will actually report out inconclusive test results. Like they would say, we found this variant is usually associated with autosomal dominant or recessive form of state of condition like Alcadine phosphatase deficiency, right? But they will say in our database or according to us, the results is inconclusive. So when that happens and that's reported out, if it's going to be used by any other individual for risk assessment, you need to do more testing or you need to do more investigation to assess that risk. So even though we are all feeling pretty good that carrier screening labs are doing a good job, they have certain limitations in certain genes or the way they have their databases and then the way they report back results. So sometimes when there is a risk of cystic fibrosis or any other condition, I would like them to unmask the variant of uncertain significance because say the partner already has cystic fibrosis, they have congenital bilateral absence of vast difference, they have two mutations for cystic fibrosis. Now I want to unmask the variants of uncertain significance in the woman. And there are some labs that are very easy about it. You submit a variant of uncertain significance form, they will update it in a week and you get the test results. And there are other labs that just don't report out radiance of uncertain significance. So because there is no standard guidelines of which disorders should be tested for, whether or not there is good mutation detection rate for that particular gene, whether or not we have good phenotype for those conditions, and whether or not we have like a good... risk assessment for that condition, these conditions are now being added to the panel. So there are some panels that can be over 600 conditions or more. When you start to go into the less frequently found conditions, the mutation detection rate goes down, you know, because we don't have data from those rare conditions. Plus also your rate of like phenotype, like for us as a genetic professional who has to counsel on those positive test results. Sometimes the mutation that is being picked up in these rare condition is not even well defined. There's only like a few people that have been reported with those mutations. So when you're faced with that kind of situation, because the either the donor bank use that panel or the clinic use that panel, that condition was on there. And now we have to counsel as to whether or not the patient needs PGTM or whether or not they should not use this donor. You know, there's going to be expertise that's required and the frustration to the recipients or the families that are using these donors is the essence of time. They now need an additional step to address that risk. They have to either do diagnostic testing or we need to look at the literature and we have to provide appropriate cancelling and then they have to move forward. And I think another important thing that needs to be addressed is pre-test counseling. Pre-test counseling, both for the donors and for the recipients as to like, what are they being tested for? What are we going to be finding? Because with these, some of the larger panels, some of these over 600 gene panels, there are about 60 to 70 X-linked conditions on there. We all know about Fragile X and everybody tests for Fragile X, but then there are these very rare X-link conditions that are on those panels. And if you're gonna use an egg donor and the egg donor comes back for one of these rare conditions, then a case by case analysis has to happen of whether the risk is something that should exclude that donor from the bank or whether they can be kept in the pool. And I think this is something for the field and everybody in this current time to decide because if you use screening criteria, right, that are very wide, then you're going to go down on your donor pool. Like if you're looking for certain minorities and ethnic backgrounds and you put a big panel, you know, there will be something or the other that will come back as a positive risk and then you won't be able to use those donors. And it would be fine in an ideal sort of the way if we had like unlimited genetic professionals in the field. But when there are these bottlenecks about how that risk is being addressed and the next time you can see somebody is going to be a couple of weeks, then they're gonna order the testing. So imagine somebody who wants to have a baby as soon as possible, it adds to that whole workflow. Griffin Jones (22:39) You mentioned the C dot and P dot, the differences in terminology. How familiar are REIs with the differences in those terminology? it the same thing of like, there was PGD and PGS and now we say PGTA and PGTM. Is it that familiar to people and all they have to do is code switch in their mind or is the difference in terminology, can it really be confusing for an REI. Dr. Mili Thakur (23:06) So just to give you an example, So Delta F508 is a variation or a pathogenic mutation that is in the cystic fibrosis. We have all known it for Delta F508, right? If that's written somewhere, I know it's a classic cystic fibrosis mutation. If the female partner is also a carrier of that terminology or the common name for that gene, you know, but when we try to look at the C dot and the P dot, which is some labs are now just reporting at that and they don't put in the parentheses the old name of that mutation, the one face the famous name, then every REI and their team will have to go back and like look back at that information and say, what does this mean? Because for most of us, even the genetic professionals in the field, we don't remember or like try to remember the C dot and P dot for every single mutation that's out there because that C dot will have a number at the beginning. and then they will have some letters in there. So I think my personal preference is for them to be stringent, report out the C dot and the P dot, but in the parentheses, say, AKA, or like earlier name was this, because then at a glance I can tell, this is our classic cystic fibrosis mutation, or for like biotinase deficiency, there is a very famous mutation that doesn't cause any phenotype. But now with some of the labs just reporting out, the exact medical terminology, the C-dot and the P-dot, you have to go back and double check what they're talking about. I think, again, we need guidelines. Like anything else, we should have a consensus among us as to which are the conditions, how are they going to be reported, and then where on that carrier screening test result, if you look at the average carrier screening results, it's like seven to 10 pages long. And sometimes the description of the positive gene is going to be three pages down. And unless you've trained your team or you work with a genetic professional, sometimes, you know, things can get missed. So. Griffin Jones (25:08) You say that we need guidelines. You've also said that we need tools. Does the need for guidelines precede the need for tools in your view? Dr. Mili Thakur (25:19) Yeah, I think first of all, we have to agree as to in the current time, what are the conditions that we all feel should be tested for? That should be the exclusionary if somebody is a positive carrier for those X-linked conditions. Like even if we sorted out the X-linked conditions and had guidelines of like, this is how many conditions we all should be testing for. And then. I think the guidelines precede the tools because the tools. Once you build them, you know every iteration of them, you can add different things. But to be able to first have the field come together right now, if you as many practices out there as many networks are there, they are deciding their panels on multitude of things and you know multitude of things as clinical utility is one of them, you know, but also the cost to the. to the recipient is one thing. Then the ease of ordering the test is another thing. Can you order it through the EMR? Can the results come back to the EMR? Can the patient go any place to get this blood draw done or is a kit supposed to be shipped? So what clinics are trying to do, because they are trying to serve a lot of families, they are also looking at their logistics and the logistics and the clinical utility of the panel may not match. At the end of it, we should keep our patients in the center of this and see what is going to be the safest option for them, yet it should be the best experience for them. So they don't feel the back end work that we are doing. Right. So if a patient walks in, they have no business of like what they are going to be tested for. They're just banking on the medical team to try and make sure that everything's going to be fine. Right. So Griffin Jones (27:04) Who should the guidelines come from? Should they come from ACOG or should they come from ASRM or ACMG or because you would like to think that all three of those bodies would share the same guidelines, but maybe they would have different views. Who do you see as being the source of truth for setting the guidelines? Dr. Mili Thakur (27:22) I think for the fertility industry, for IVF and those who are on family building, the guidelines should come through the physicians, the stakeholders in the field along with ASRM. And the reason why I say that is when ACMG is coming out with guidelines, which they already did, there is 113 conditions in there, their primary focus is that we should have enough risk reduction, right? That means that there should be risk reduction of a genetic condition happening to the family, but they have to balance those risks against the cost of the test, against the anxiety that's brought on by a positive test. And most of the times they also have to balance against utilization of resources perfectly fine. Now we are expecting new guidelines to come from ACOG. ACOG is due for a guideline to come for the carrier screening here soon. In my mind, feel like ACOG has to balance the risk of carrier screening during and preconception. So during conception, during a pregnancy, if you use a very big panel, there's going to be unnecessary anxiety that's going to come through to the patient. Because the patient's already pregnant, there's not going to be much that you can do at that point, right? For us in the preconception space, in the fertility practices. Our patients are looking for the best option so they can have the risk in front of us. Many of our patients would rather have a bigger panel, be able to pick the best scenario for themselves or if they're using a donor. And the mindset that a patient who's going to be doing IVF is much different than a mindset of a patient who's already pregnant. So I think Even though we should cross check the guidelines with what ACMG is saying and ACOG is saying, they have to be limited in those panels because, you know, the pregnancy is already there. A lot of OBGYNs that I work with and I give talks on a regular basis as part of my role at genome ally, they're doing panels that are 14 disorders. There are even OBGYNs in some areas that are doing only four conditions and they're fine with it. Right? But for us, are used to like hundreds of disorder panels. We already have developed workflows for those panels. Our panels are not going to be as small as four or 14. I don't think anybody in the whole United States is using 14 conditions in an IVF setting, you know. So our guidelines are going to be a little bit broader and it should come from the stakeholders. Stakeholders, I mean, is a large percentage of the business of practices is now through networks. And, you know, I think it would be a great idea for, for, ASRM to organize some sort of a brainstorming panel. And I know these, this type of stuff has happened before for other guidelines that we come out with, there should be like a brainstorming panel where stakeholders are in there. And then we come up with clinical utility of those, those panels. and then also the logistics of those panels. And then, you know, those guidelines should be broad enough to be able to cater to a fertility patient who's doing this in a preconception setting and not doing it during pregnancy, which is more limiting. Griffin Jones (30:41) Is that in motion at all? Is there anything that you know of ASRM putting this together? Have you proposed the idea to them? Dr. Mili Thakur (30:44) you No, I haven't proposed it, but like in my dreaming, you know, there's multiple things that I dream about and this is one of those things. You know, I would, I would like a few things. One of them is, you know, we come up with a panel that most everybody agrees to use. Most labs agree to do it. Most labs have the expertise to do it so they can have like a comparison. It doesn't matter if you were tested by X panel versus Y panel, you're tested for those conditions, right? And then another thing is like, the way these tests are being reported out. Like if there was some sort of a standardized way of how carrier screening reports should look like, one after the other, this is how we are gonna call these mutations, this is how we are gonna report these mutations, and then this is how we are gonna give a joint test report, that would be best. Because right now what is happening is the joint test report, if the physician, some REI practices have not set up a joint test report, they don't even know about a joint test report that comes out at the end of it. And if they haven't set it up, then they have two separate test results. And then their teams are trying to address the risk in a very manual way. So if I can walk you through a scenario, some practices have both male and female partner get tested at the same time, blood work gets done, and then their test reports come back. But right now, depending on practice to practice, some practices are still testing the female partner first. Then you find out she's positive, then you test the male partner. First, you have to track down the male partner, have them come back for a blood draw or a saliva sample, and then you have to kind of get the test results. the test results are coming in two separate... time zones, right? They're coming at two different times. Then you have to put them together. Then somebody has to look at the risk and then somebody has to address that risk. So each practice right now is, is the challenge is to make that workflow internally and address that risk. Griffin Jones (32:47) Hopefully we can make your dreams come true. There are a lot of docs and officers from ASRM that listen. Jared, a lot of the committee chairs and others listen. So hopefully that idea could come to fruition. you foresee any resistance? If you were to take a counter view, could you make any sort of argument? from either someone at ASRM or any of these bodies that would say, that isn't a good idea and here's why it isn't a good idea. Dr. Mili Thakur (33:19) No, I think like every lab that I work with, and I work with most every lab that does genetics in the reproductive space, has the good of the patient at the center. They would like to be able to help the patient, the family, and then the physicians. They definitely want to make it easier for the physicians to take care of the patient, to address the risk, to be able to give that information. So I think we just need the time and space you know, to be able to think about it. There's been so much talk about regulations and standardization in the reproductive genetics field, you know, and I hope that we will get that time to be able to organize some sort of a brainstorming session, trying to get all the stakeholders on one table and for a few days they can like discuss about what sort of testing should be that they want. And hopefully what that will do is for the future generations, for the future clinics, they will not have to go case by case on deciding what has to happen. Like if we all agreed on these kind of regulations, the same thing about medical updates. I talked about the medical update and right now we don't have a standardized way of getting an update. If we got an update manually, the genetic counselors working at the banks have to call the donor. you know, are they able to reach the donor and what sort of like consent process has happened at the donor bank? And I am told by those who work in the banks, it's not the same everywhere. Every bank has a different way of consenting the donor and whether or not the bank will be able to reach them back. you know, another sensitive topic is how to disclose that medical update if say a child was conceived using donor egg or donor sperm. and they had a medical condition that happened to them. Now, when that information comes back to the bank, most of the time the family will reach out and let them know that, you know, our child was diagnosed with a certain condition. An example is an X-linked condition, right? If an X-linked condition is there, then it would be good to be able to test the egg donor. And, you know, right now we don't have a standardized way of how that update comes to the bank, how that information is given to the rest of the persons conceived through that same donor. So I think it would be good to address those issues as we move along. Every time we talk about these things and raise awareness, it improves the process. Griffin Jones (35:46) For fertility practices seeking to enhance their donor egg programs, My Egg Bank offers key advantages as it continues to adapt with the merging fields of third party IVF and genomics. First, you gain access to a shared platform, allowing you to house and display donor profiles directly, serving your internal patient population efficiently. Second, the network's reach is significant. So as you're looking for an egg bank that does have a multitude of donors that can afford to increase the standard of their screening. That's MyEgg Bank with over 225 affiliate clinics in North America. MyEgg Bank provides unparalleled visibility for your donor profiles, expanding your program's reach to a wider audience of aspiring parents. Finally, MyEgg Bank prioritizes clinical excellence, employing state-of-the-art protocols developed by leading embryologists and clinicians. So when there's a variance of standards, you wanna go with people that have the highest of those standards and that have that clinical and embryology background caked throughout their DNA as an organization. This ensures the highest standards of health and safety, giving you confidence in the quality of available donor eggs. In short, partnering with My Egg Bank offers enhanced in-house capabilities, expanded market reach, and the assurance of top tier clinical standards. If your clinic is looking to do more third-party IVF, check out the resources that My Egg Bank has for you. go to myeggbank.com/clinics. That's myeggbank.com/clinics. We talked about guidelines. Tell me about tools. What additional tools do clinicians need? Dr. Mili Thakur (37:25) I think clinicians need a really good tool of... putting everything together in one place. So what I mean by that is depending on their EMR system, being able to access the reported three generation history of the patient, right? The medical questionnaire that's reported out for the donor and the recipient, and also be able to keep all the genetic test reports inside one portal per se would be an amazing thing. Because right now what is happening is the different types of questionnaires or test reports are scattered in different parts of the EMR. So if somebody wanted to quickly reference them, they would have to manually do it in their own system. Like mostly donor coordinators are great on doing that. Like they have kind of make a made shift way of how they keep track of all of these information. But right now, you know, at the grassroots level in the clinic, That is one of the important things to be able to keep that. Another tool I think that we need is to be able to double check some of the history. So sometimes what I worry about is when there is self-reported history that is being obtained from a donor, many important conditions can be missed. So there's clear guidelines from like ASRM about what constitutes an exclusion in a family history. So one of those conditions is autism and autism spectrum disorder. So if the donor themselves or a first degree family member has autism or autism spectrum disorder, they will be excluded. The same thing for cerebral palsy, the same thing for severe mental health conditions like bipolar disorder or schizoaffective disorder or mania. But when we are taking that self-reported history, depending on how the donor is feeling about reporting them that day, they may not be reporting it out. either the clinic can take the onus of it, or we could have tools that are already built where the donor can report out the history. Somebody can double check that portion and then. you know, ask the donor again and make sure that there is no children in your family or your first degree relatives, brothers or sisters who had intellectual disability or autism spectrum disorder, like make sure because as a consulting physician, right, I consult for a lot of practices in the US and I have had consults with cases where there was actually a known risk. It's just that the egg donor just did not report it out at that time. When the history was being taken, it's a self-reported history. They're reporting it out and somehow it got missed. then come to find out the child conceived from that donor actually had the genetic change. When we looked back and tested the donor, there was a genetic change. And then there was an affected family member that could have triggered that exclusion from the get-go. So what I'm trying to say is that Every practice, any practice that does egg donor, cycles egg donors inside of their practice, right? Should have the same tools that is being used by the donor egg banks, right? The stringency should not go down just because somebody used anonymous local donor versus the stringency that's being at these banks. And then from one bank to another bank, those tools are different. And you would be surprised that many of the banks and many of the practices are not utilizing a genetic counselor in their workflow. know, genetic counselors are very good at picking up that risk and assessment of that risk and addressing it. know, so to keep our standards high for the families that we are taking care of, I think we should have a good tool that is able to assess for reported family history and then easy way for the donor coordinator or the team to go back and like reassess. Because right now I'm not sure how many practices have it on an electronic form. They usually have it in a paper that paper goes in a big file and it's kept someplace else. And then when we are looking at like genetic carrier screening, it's in one portion of the EMR. The physical exam is another portion of the EMR. So I think combining those information in a very easy profile. would be the ideal way and you we need investment in that field like Griffin Jones (41:44) Do you use any tools for that right now or are you just using it on your own? Dr. Mili Thakur (41:49) Yeah, so so right now what I've done for myself and again it's like very manual. It's like on my desktop I have my different portals. I kid you not. There's 15 different portals that I have to enter every day and exit, so there's like four or five carrier screening labs that I order test from, right? Or the REIs that are referring to be will order through them and then there's like 8 PGT labs or 9 PGT labs in the US. And each one of them has a different way of how they either have a portal or you send them a test requisition form through email and then it comes back through email and then you have to store it someplace to make sure you make sense of it. So what I've done manually right now is I have a system of how we take care of this, but you I've talked to some of the founders like Jeff from Engaged MD. Like I was trying to tell him. that we need a portal, like one portal. You enter that portal and everything genetic portal is inside of that. To facilitate all these genetic testing labs, like if for a clinic or for a network, you should have one login where you enter. And then you have these eight PGT labs that show up in a circle and you click on them, it takes them to their login there, right? And then your carrier screening labs are on one side and your products of conception labs are in there. So, In that way, what can happen is we have a centralized system of how things are ordered and where they come back. But I think it's many levels down from the priorities right now. I think clinical utility is where we are at right now. then physician experience comes multitudes of levels down. Right now, in a physician or team experience or what the staff has to go through is kind of suffering because you You can barely get the male partner to come and do the carrier screening and make sure the panels match up and make sure all of the clinical workflow happens. know, the portals, I don't think somebody has it at the forefront of their mind right now. It's like, these doctors have to go into all these different areas and submit cases all different ways. Griffin Jones (43:56) Yeah, I don't think that it's that small of an issue in my view. If I'm looking at it from a business perspective, it's I'm seeing a much larger market to serve, meaning a much larger patient population that either isn't being served now or will need to serve more of them in the future or we're serving them but in ways that cause them to drop out of treatment. or because it's extending their treatment and they weren't pre-counseled and a whole host of other things. And so you were the first person to really get me thinking like this, that we talk about IVF and we talk about genomics and we talk about them as sort of in two different buckets. And between you and David Sable and some others, I really do not see them as... as different verticals and especially as we move forward into the future, think genomics and IVF are just, they're two of the same. And do you think that's more, less or the same true for third party IVF? Dr. Mili Thakur (45:05) I think it's like the same true as your regular IVF practice. And the reason being that, you know, genomics, as you already mentioned, has become integrated into IVF so much. And, you know, the risk reduction that the genetic testing brings is everybody wants that. The family wants that, the doctors want it. They don't want that genetic risk to happen to the children, right? But traditionally, you know, a lot of interest was taken in the IVF field and the embryology field, but we haven't invested as much in our genetic counselors. We haven't invested as much in addressing the genetic risks inside the practice. And if you had a good pre-test counseling done for a patient and no matter what test you order for it, they can understand it. You just have to give that pre-test counseling. I'm not talking about pretest counseling where they're given a pamphlet and that's considered as a consent or they're like had to sign a paperwork that's not, you know, pretest counseling for me or even some people have shown me programs where you can click, you have to watch the video and then you have to click. But having done that as myself for some of the things that I do and I'm trying to like get to Netflix for a particular movie, it doesn't matter what you make me click through. I'm just going to the. want to watch the movie right now. Like I'm not listening to their little video if I had to watch it, right? I just need to get to the next step. So what I'm trying to say is a true pre-test counseling. And I order all sorts of clients test in my practice. I even ordered the whole genome sequencing, which is the biggest test that there is. If you've actually given a good test counseling by a genetic professional, whether it be a genetic counselor or a geneticist or an REI who feels well-worshed in addressing that pre-test counseling. Griffin Jones (46:30) Mm-hmm. Dr. Mili Thakur (46:53) or a team member in that team that you have trained to address that, they will have a good experience. are already, patients are already very well versed in what is gonna be positive, what is the timeline, how or why their partner needs to be tested, and whether or not we might need additional testing if the donor is tested by a different panel. You just have to tell the patient ahead of time. that we are going to try our very best to match to the panel that is being used in these labs. But if you choose to use another donor bank for some reason, then we might have to do additional testing. And if you set those expectations for those patients, they're going to have a good experience. The issue that we are facing in the field right now is with the volume of the patients and the lopsidedness of that with the amount of professionals available. You know, the doctors are barely able to finish their consultation, do the IVF counseling, and then the genetics piece is smaller, right? So if they are not able to address that thing, most patients will not have any understanding of what is being tested for. That is the same issue with how we do carrier screening. Like they don't know what the disorders are on those panels. The same issue with PGT. They just think, they hear the word genetic, somehow they will just think that all of my genes are being tested for when the results come back, their assumption is I'm good to go. The doctor said I'm fine. There is no concept of like risk reduction. That means we are not eliminating the risk. There's still going to be a risk after we do this testing. This is the limitation of this test. This is the number of disorders we are testing. So I think we should invest as a field in nurturing young professionals who are coming out of genetic counseling schools, being able to create jobs for them at this point. And I said this in a podcast two years ago with you, like if we create those positions inside of our networks and inside of our labs and you know, many labs are adding more genetic counselors, but doing it to young professionals. Like instead of those that have multiple years of experience, is what everybody wants to keep when you try to take somebody who has multiple experience, then you're actually having them just change jobs from one position to another position in the field. You're not adding to the workforce. What we need to do is as you've done an incredible job of like showing us in your last newsletter of where the REI fellows went, which network are they going, right? So it's like. are we able to bring new professionals right out of genetic counseling school, take them and then nurture them for the next five years because we see the value in what they are going to provide in the long run. In that case, we are not going to take our professionals from the clinic and then industries trying to take them. Or like somebody who's like a medical science liaison in a lab is going to a VP position someplace else, right? It's like, if you keep changing. job descriptions within the field, then we stay the same amount of workforce. But if we recruit new people coming into the field, then the workflow will increase. Griffin Jones (50:04) If you were talking to a business person and they're considering that there's potential tools and automation and investing in the workforce, how would you describe to them how much more third party with genetic testing could be done versus how much is being done currently? Dr. Mili Thakur (50:22) I feel like genetics is nobody's baby. We're just getting by. We're just getting through every day and making sure that, okay, we don't, you know, don't miss out on doing something for the patient. But it's not like the patient walks into a room and the first thing they're hearing about carrier screening. I think carrier screening is six or seven down in the list. And by the time you're talking about six or seven thing, the patient's already talking about their insurance and medicine. So they have a lot on their mind. But if there was a team that, you know, after the doctor has given the plan, everything's been all done and said with the IVF nurse, your medications are fixated, you you figured out that. Then you had a genetics team that said, you're welcome to my office. Let's talk and talk about these five different things. Then the patient's attention is right there instead of like a flyer or a video that they have to click through or, you know, take care of it. So I think. An amazing opportunity for the field would be to recognize that genetics is here to stay, that we should address these risks, that we should train young professionals, that we should provide more investment in that space and provide support to our labs. Like all the labs, whether they be PGT labs or carrier screening labs or product of conception labs, they should be supported. They're industry, but they do need our support. in terms of guidelines. If the doctor said, I need to see your clinical validity paper. I need you to address how you report out these mutations. The labs will then have to cater to the physician. But if it's the other way around that the lab develops a test and then the physicians are like trying to take care of whatever the lab developed, then it is difficult. If we take the lead as the clinical team of the patient and say, patients are wanting a certain workflow. know, our doctors are wanting a certain type of workflow, then the labs are here to listen. I don't think they would ever say no. It's just that, you know, the lab's job is to serve the test, right? They're developing the test. Their job is to be able to send the kits to the doctor, get the kits back and report the results out. Their job is not to take care of the patient. It's our job. as the clinicians, as the clinical team to take care of the patients. We are answerable to the patients and we should be the ones that should be the gatekeeper of that system, not the other way around. We should say, you know, this test serves our patients and this is what we need and they will be happy to comply. I'm sure they want the best for our patients. Griffin Jones (52:59) Genetics is your baby. And that's why you've been on this program multiple times that and each time we talk, I think there's four potential topics for the next conversation that I want to invite Dr. That core for but you're the person that I think of that is is drawing attention in the public square to genomics and I Dr. Mili Thakur (53:01) Okay. Griffin Jones (53:24) want to give you a platform. I'm happy that MyEgg Bank sponsored this conversation because genomics is important to them. But I want these genetic labs being more active. think there's a dearth right now and I want those companies to figure out a way to get involved and participate in the public conversations and more and elevate you and elevate your peers because I think you're seeing the forest for the trees. We might be in a dearth of what's happened to genetics companies in the last couple of years economically, but there's no way that this field doesn't totally overlap with genomics. And we can see how it's limiting us right now in third party IVF, in other IVF. And I really look forward to having you back on and to continue to give you. Dr. Thakur, thank you very much for coming back on the Inside Reproductive Health podcast. Dr. Mili Thakur (54:25) Thank you, Griffin. I enjoyed the show.
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