ASRM Today: Genetics Bonus Episode - Inclusive Family History Project

Did you know some of your patients may have been conceived with donor gametes and that you may have an inaccurate family history from them putting them at risk for inappropriate medical care? This episode covers what every provider needs to know about donor conception, so you can provide safe and effective health care. The Inclusive Family History Project is working to raise awareness, remove stigmas from donor conception and ensure providers have the information they need to provide the right medical care for their patients.

Website: Inclusive Family History — Lori Metz | LCWS, CCMR, BC, TMH 

Serena Chen: Twitter, Instagram @DrSerenaHChen; email DrSerenaHChen@gmail.com 

Joseph Cody: @joecody5 & @grain_fertility; email joe@grainfertility.com

Lori Metz: Instagram, Facebook, LinkedIn:  @lorimetzlcsw; email lorimetz@ymail.com 

Welcome to ASRM Today, a podcast that takes a deeper dive into the current topics in reproductive medicine. I'm Jeffrey Hayes, and today on the show, we have some returning guests to give us an update on the Inclusive Family History Initiative. Joining me is Lori Metz, Serena Chen, and Joseph Cody.

Thank you all for coming on the show today. Thanks for having us. Thank you.

Yeah. Thank you. Lori, I want to start by asking you, what was the impetus for this initiative? Well, first of all, thank you again for having us back because we're so excited to give you this update.

I like can't even tell you. So it's really exciting to see something grow. In 2019, I was having a support group and the recipient parents, and they were talking about how they weren't sharing their children's medical information with the doctor for a variety of reasons or the healthcare professionals in general.

And this was alarming, right? Because some of the children had different conditions that were being associated with the parent who was presenting, and they were going down paths that weren't necessarily optimal in the delivery of healthcare. And probably even at times, which we've later found out, treating conditions that may not have been there or thinking it was something that it wasn't. And so I started to do a little bit of investigation and reaching out to people.

And Serena was actually the first person who I contacted, and she was just, yes, we have to do this. So we started on this journey of trying to change in a two-prong approach, capturing information for donor conceived people and for adoption, thinking that in both instances, this information is necessary and people forget to mention it. People are sometimes have variety of emotional reasons or grief that they don't want to mention it.

It's got stigma to it, which hopefully is changing these days. And so that's how this was born. And then shortly after I was introduced to Joe, which was a blessing and we were able to get systems in place.

And today the initiative is now grown to a global level where systemically, it's global and educationally. We have issued the first provider training pieces that has been recognized here and with the global minds that we've been working with. So it's very exciting.

Serena, I want to ask you, can you talk to me a little bit about the medical impact? So I think it can be profound and we are finding out more and now that our genetic knowledge is exploding and people are finding out just how important genetics are, understanding your genetics is super important. And for a lot of, for donor conceived and adopted people, their access to this information obviously can be much, much, much more challenging to the point where sometimes they have no information at all. They can be tested individually, but it can be literally a life or death situation.

Because if you have a certain family history or certain gene, we might do one set of tests. But if you have a different set of genes, we might do a completely different treatment plan or have a completely different diagnostic algorithm and then potentially end up giving people the wrong drugs or the wrong treatment or the wrong approach. And as we start personalizing medicine more and more and seeing how personalization of medicine is more and more effective to be without those tools or to be given or to be giving, inputting the wrong information can, could be potentially disastrous.

And in the heat of the moment, when you're like in the emergency room or somebody is having like a serious medical crisis or something like that, people do, you know, they do forget. This is not right at the top of their list that, okay, my family history is not the same, is a little bit, is complicated. I have donor conception.

I have adoption. That's a factor. Even when people don't have donor conception or adoption in their history, I still see people forgetting about things like their history, which can make, make a big difference in their treatment plan.

So, you know, I think the importance of this is profound for patients and for physicians and providers. Thank you. I want to turn to Joe, who was not with us last time that we met and had a chat about this, but can you tell me a little bit about what are some of the system updates? Yeah, I think when you're looking at this and a lot of what Serena was just talking about that often in an emergent situation, or if someone may not have documented medical history, it's really hard for someone to remember to tell these type of things to their providers.

And so, when Lori started talking with me about this initiative as a IVF dad to a daughter who was conceived using third-party reproduction, this immediately spoke to me because my background being in health policy, specifically in health IT and digital health, I knew that the documentation of my daughter's medical history and having that information accessible was incredibly important, yet there wasn't really an apparatus to do so. When we started to dig into what electronic health records capture, there weren't really standardized data fields that allowed for this information to be encoded into the medical record in an interoperable way. So, we started to reach out to medical associations, to the EHR Association, eventually got linked up to GA4GH, which is a global standards development organization that's specifically working to develop the standards for documenting family history, looking at the genomic, phenotypic, and clinical data representation of this, and how do EHR systems and other computable services allow for this information to be captured in a standardized way.

And so, with input from experts like Serena and Lori from the Donor Conceived community, we started to put together documents and definitions that would allow for this information to be encoded in EHRs in a standardized way to make it interoperable so it can be accessible at the point of care for different providers, regardless of where they are, and you're not dependent on that patient to be delivering that information. I would just like to ask Joe to just go through what GA4GH is, because I think it's like an incredible organization. I'm so impressed, but I bet a lot of the audience might not know about them.

No, thanks. It's a good point. So, GA4GH is the Global Alliance for Genomics and Health.

And so, this is one of a multitude of organizations that works to develop the definitions and standards that are utilized by systems globally. And so, what they do is they bring together experts from across the globe to be able to discuss these different definitions, ensure that there's a commonality between those, and then they will work to develop something that's called an Implementation Guide, which is a program that allows EHR systems and other computable systems to standardize these definitions and encode them into the daily practice. That way, everyone's using the same terminology across the globe.

And this really is a big step in this direction, because no one was developing these before. When Lori and I first met with the staff for them, you know, they were like, oh, we did not think of this perspective, and we were actually providing input on different scenarios because they were using IVF as a very broad definition. And we were trying to say there's lots of specific scenarios and journeys that individuals and patients, intended parents, and children conceived using third-party reproduction or those that are children via adoption, you know, have.

And we need to have that nuance appropriately encoded, but also use the terminology that patients and providers are using at the point of care to ensure that information is accurately represented and captured. So, Jeff, from a provider perspective, I just found this kind of mind-blowing because I realized when Joe said these things, and he connected us with the Global Alliance and put forth this idea of encoding this into EHR standards, is that we can literally change how patients and providers view this, that how they think, and we can, you know, by making it routine, like it's just as routine as always asking for your age, always asking for your allergy, asking about donor conception, that occurs if you bake it into the EHR, it's then baked into every single patient encounter everywhere, kind of all over the world, and you are then removing, you're educating, you're raising awareness, and you are removing stigma and secrecy and shame, which has been a huge issue surrounding donor conception and adoption. So, it's just very powerful to think like what just changing the standards for, you know, a questionnaire in electronic medical records could be.

So, I just wanted to emphasize that. I just thought that was such a cool aspect of what Joe is bringing to the table. Well, it's so far-reaching, right, because you want to improve the quality of healthcare, the delivery of healthcare, and you want to optimize, you know, every component of it.

So, there's so much strain that goes on physically, emotionally, and financially to this, and we don't want to go down that path. One of the things that we did was we started to look at medical records and medical errors, and we started to survey some of the And so, we sent out a survey to everybody. We tried to get as many as we could to answer it, but there were some huge medical errors going on that were devastating and, you know, really life-altering for some people based on their medical condition being, you know, attributed to the person who was raising them and not necessarily who was biologically connected to them.

And so, what we actually look at when you look at the research, you find that poor communication is one of the key indicators when it comes to medical errors. And yet, it can be so medicine and delivering care and giving an accurate history can be complicated and burdensome, and making it automated and easy for everybody is huge. Like, just take, you know, just making it automatic, huge.

Yeah, and what Serena said, I just want to echo with just one quick example. I was talking to somebody about the initiative, and she said her husband is 55 years old. He went to the emergency room, and they were in crisis, and he totally forgot to mention that he was adopted when they asked about family history.

It just didn't enter his mind, and it was never a secret. He was raised knowing he was adopted, but he was in medical crisis. And so, it just didn't come up, but had it been prompted on the system, it would have been evident it would have been there.

He would have said, oh, yeah, I'm adopted. So, Joe, do you want to weigh in a little bit on why engaging the provider community is important? Yeah, I think when you are looking at engaging the provider community, I think there's a couple things that you have to do and do this. One, we want to ensure by developing these standards and including new things into the EMR system, we're not adding additional burdens.

We don't want to continue to add additional questions that make it longer when someone's doing that thing. But a lot of times, these providers are the ones who are going to have best insights into the patient care, and we want to be able to develop questions and prompts that help that provider understand that patient's history and allow them to have all the information accessible so they can make a correct diagnosis. As Lori has said, we really started to see data that different health care providers, especially specialists who are working on treating different diseases, may have considered family history, but that was incorrect family history, and the patient never was necessarily prompted to correct them, nor did they know the incorrect or missing information was or was not there.

So, there really are two sides to this. The patient side is obviously incredibly important, but we shouldn't expect the patients to necessarily be the ones who are delivering this information to the table every single time. Most of the time, they may not even have that information.

It's a different conversation, I think, about the donor-conceived community and the information they have access to, but until those days are here, we want to be able to afford the patients with the information and also to ensure the providers have access to it. As there have been changes in the EHR systems in the United States and globally over the last 10-15 years, we really do have access to a lot more information, and it's something that is taking place as we see these kind of global queries that are accessible where providers can start to find information about patients at a national scale. We're no longer looking at these simple systems based on one hospital, etc.

So, by having this information encoded and standardized, we may be able to start to make this information more accessible at the point of care in a much easier way than having to have a patient carrying around their records to every doctor's appointment, which is unfortunately something that my wife and I are very accustomed to having done and having these paper-based records and ensuring that information is accessible. It's 2025. We should not be doing that anymore, and so this is the first step for us to be able to get to that process.

Right, and it should carry through in the records, so this won't just be in the intake, but it'll carry through for the patient's history. So, it's, you know, it's crucial, really, but the only thing I would add is, you know, we have to remember also not every person is going to be comfortable answering the question. So, even if we give the question, some people may not be comfortable answering it, and the hope is, or at least, you know, I think you would all agree, but my hope would be that as people see it on the forum and it becomes de-stigmatized, more and more people will become comfortable in answering the question because, you know, somebody who knows nothing at all about donor conception will be looking at the forum and seeing it as another way to bring a child into the world and build a family, and that will help in itself.

How do you then, you can talk a little bit about the educational aspect to providers of this and also to patients. I mean, what about that? Is there a plan? Is there not a curriculum in quotes, you know, but how does that happen? Well, we started that. So, the first educational piece has been developed, and it's been issued, and so far it's gotten really positive feedback, I'm happy to say, and it's for pediatricians, and so it's called the Pediatrician Toolkit for Conversational Tools and Best Practices in Supporting Donor-Conceived Families, and the purpose of this is several, right? We don't want to ask a provider community to gather information without giving them some tools in order to be able to, you know, take them in and know what to do with them because a lot of people aren't sure how to communicate with the donor-conceived population, and so we want to make it a little bit more comfortable, and so in doing that, we put together a toolkit, and it's available.

There's no charge for it at all, and if anybody wanted more information than what's available in the toolkit, I'm happy to fill them in on it, but what we started with is an overview of donor conception, why we need it. There's been a lot of different people that have weighed in on it. Jamie Spears, who's donor-conceived, and I spearheaded this effort, and then we got reviewers who were comprised of reproductive endocrinologists, pediatricians, lawyers, donor-conceived people, donor-conceived organizations, LBGTQ community.

I know people who are members of ASRM, so we've gotten a wide range of people involved in reviewing this because we wanted to be sure that it was representative of what people might need and what they might want, and so these tools not only give some insight and overview about speaking with people who are donor-conceived and guidelines that you might want to keep in mind and prompts to help you in terms of questions you may want to ask to open up a conversation, but also answers as to maybe how to refer somebody to a good resource or if somebody asks you a question and you're not sure where to go with it. Tips and tools kind of like keeping an open mind, not assuming that you know what the answer is going to be if somebody wants to say something to you, but just letting them talk and receiving it with an open mind, open door. I did hear one person say recently that when he was 15, he went to the doctor for the first time by himself, and he was so happy to go by himself, but he was so nervous because he wanted to speak to the doctor about his genetic history, but wasn't sure how to even start the conversation, and he said he got there and he was fumbling and he was trying to talk to the doctor about it, and had the doctor been able to just say, do you have any questions for me? That would have at least allowed him to open up the conversation to, I'd like some information or I have some concern about my health, and so we really just want to empower the doctor, the nurse practitioner, even the nurse in the office, the intake person, to be able to feel comfortable and confident in having the conversations.

So the first one was for the pediatricians, the second one will be for general practitioners, which is in draft right now, and then the third one that we'll issue is for OBGYNs, and then after that we'll see, but we're hoping that they get adopted because if we think about when the electronic prescribing project first started, there were some really major medical errors because the human intervention wasn't trained. So without the two-pronged approach of, you know, it being in the system and then the human knowing how to deal with it and accepting it into the system and then understanding how to work with it in the system, it just won't work. Yeah, and I don't want our audience to just feel overloaded.

We will be providing a link information in our show notes so that you can click on it and sort of refresh yourself about our conversation today. Joe, I want to ask you real quick because you have a unique perspective. Can you give us the recipient-parent perspective? Yeah, I think, you know, having providers who are understanding and educated on the realities of donor-conceived children, people who are in families via adoption, and then also for intended parents and parents like myself who have children conceived via third-party reproduction, having that sensitivity and knowing what to ask them and how to talk to them is incredibly important.

And I tell this story often when my wife and I were—when my wife was pregnant and we were going to a cardiologist because we had to do a fetal echocardiogram on my daughter, you know, in 20 weeks, whatever it was, etc. We go to the cardiologist and they're doing the fetal echocardiogram and we knew, we were prompted, we knew to tell the cardiologist that our daughter was conceived using third-party reproduction and we're explaining the history. We're very lucky in that we had a known donor, so we have the information available to be able to provide to the doctor and, you know, have that medical history.

And the cardiologist made a comment in passing to my wife saying how excited the known donor must be that this known donor was going to have a daughter. And my wife and I were like, no, we're having a daughter. This is our child.

And the trauma that it brings up, you know, we had gone through four years of IVF. We had had multiple failed rounds. We had gone through all of this stuff.

And to have a doctor in passing say that to someone was an incredibly painful thing. And that's one of the reasons why this initiative is so powerful and important for me as a patient and an advocate because doctors mean well, but they may say things in ways that don't necessarily come off as the right way to a patient, especially someone like this who has had, you know, a very sensitive journey and, you know, is dealing with a lot emotionally on top of everything else that it goes with. So from the donor conceived community and from the parental perspective, it's incredibly important.

And we're lucky in a million ways that my daughter is incredibly healthy. But what if she had some type of disease? What if she had something that was genetically related? And we were searching for answers, going to all these specialists and going through all this stuff. And we didn't have access to this information.

We weren't informed advocates about our own health history, having documentation and ensuring that my daughter also had that stuff. It could cost months, if not years of trying to find answers for this. So as Lori and Serena have talked about, this is, this can be literally life or death for people if you have different diseases.

So having this information available and ensuring that it is accessible and the providers know how to answer these or ask these questions, how to access this information and ensuring that it's available at the point of care when it's needed is incredibly important. And I think this type of educational modules and talking with providers about how to talk to these individuals, the right questions to ask, how to ask those questions is incredibly important because we know people are more likely and more willing to give honest answers to their doctors when there is the appropriate sensitivities that are delivered through this. We know there's data that shows that patients who are working with doctors who look like them, who reflect their own socioeconomic, their own racial, their own, you know, backgrounds, they're more willing and likely to adhere to different treatments.

They're willing to come back to those types of doctors. The same thing is for this population as well. I will always remember that cardiologist saying that, and it will always be something that my wife and I have to think about as we go through this process.

So we want to ensure that everyone who is, you know, treating patients is aware that this is a large number of people who are conceived this way. I think Lori has said it's, it's one to 2% of individuals who are conceived using this and that number is growing. So this is something that's going to, people are going to encounter more and more.

So it's incredibly important for us, you know, to be working with the provider community to ensure that they have the information they need so they can make appropriate care with their patients. Thank you for sharing that. I just want to say I'm deeply touched by your story.

We're almost out of time. I just want to open the floor for everyone to give some final words. Well, it's been such a privilege to be able to work on this initiative because it's so important.

You know, we're really truly impacting a large percentage of people, even though it seems like such a small percentage, because it's something that's been such a secret for so long. And I think that all it will do is optimize healthcare on every level and destigmatize, and it will help people feel more comfortable and confident in their own skin. And it'll help the healthcare community in feeling more comfortable and confident in delivering care.

And I think that's very, very important. I really do, because after all, we all go into healthcare, or hopefully we all go into healthcare to have healthy people feel comfortable and, you know, and good. So that seems so simplistic, what I'm saying, but at the core of it, that's what we're looking for, or that's what I'm hoping for.

And if anybody has any questions or wants any additional information, they could absolutely reach out to me. There's no question about that. But it takes a village to do this.

And it takes everybody saying, you know what, I want to do this in my practice. And I want to accept these indices into my medical record. And I want to be able to at least get some basic information about how to talk to people in this group when they come into my office.

And again, we'll put some links in our show notes so that people can get in contact with people and all of this information. Lori Metz, Serena Chen, Joseph Cody, thank you so much for being able to come on the show today. Thank you for having us.

And as always, please rate, subscribe and comment on the show or on whatever your podcast platform is. We would appreciate that. And until next time, I'm Jeffrey Hayes and this is ASRM Today.

This concludes this episode of ASRM Today. For show notes, author information and discussions, go to ASRMToday.org. This material is copyrighted by the American Society for Reproductive Medicine and may not be reproduced or used without express consent from ASRM. ASRM Today series podcasts are supported in part by the ASRM Corporate Member Council.

The information and opinions expressed in this podcast do not necessarily reflect those of ASRM and its affiliates. These are provided as a source of general information and are not a substitute for consultation with a physician.