Please take your seats. The event is about to begin. Hi, everyone. My name is Andrea Skelhas, and our group was very much hoping that the people in the audience would come a bit more forward, so we were a bit more of a cohesive unit. If you are comfortable or able to come up to some of the more forward chairs, we'd love that. Thank you to everyone who is moving. This hall is huge. Please come in, fill in the spaces. If you're just joining us, we've asked people to come into some of the tables and some of the closer spaces, just so we're all a little bit more together. It is so awesome to see everyone here. I see so many familiar or friendly faces. Great. So as I mentioned, my name is Andrea Skelhas. I am a genetic counselor. I also have achondroplasia. I work in the skeletal dysplasia world and have been working there for about four years. One of the things that I realized when I first went into my genetic counseling program, and I am very fortunate to have my previous program director in the front row, Quinstein, so I'm just thrilled, was that there was such a lack of representation of individuals with disabilities and genetic conditions in the genetics and genetic counseling space. And for those of you who are involved in programs, it can be a really isolating and daunting world for students with physical, visible disabilities, or those that are invisible, to start their training. And so we're hoping that the information today is just a starting point for different conversations. Oftentimes, in addition to a lack of representation, these conversations are not done justice within the genetic counseling and medical school training. Many times it's just either not included or there's single viewpoints. And so really, really encouraging those people involved in training to push forward and to continue asking questions and to seek support of people involved in this sort of movement. Something that was really important to me is to describe the bios of our amazing presenters today, just so you have some context, not only of their personal experiences, but also their training and their current work. And so I'm going to take a minute for each member on the stage to go ahead and review their bios. So Kara Ayers is a passionate advocate for disability rights, a trailblazer in promoting health equity. She is an associate professor and associate director at the University of Cincinnati Center of Excellence in Developmental Disabilities. Her work spans research on health equity, the portrayal of disabilities in the media, and the unique challenges faced by disabled parents. Dedicated to breaking down barriers in health care with an anti-ableist approach, Dr. Ayers is committed to creating a world where everyone receives equitable treatment and celebrates the strength and diversity. I'm sorry, Stephanie, I had put yours in a different order. Stephanie Meredith is the director of the Lettercase Center for the National Prenatal and Postnatal Resources at the University of Kentucky Human Development Institute, where she develops resources for new and expectant parents, conducts research about prenatal diagnosis experiences, and develops training programs for medical professionals on disability cultural competency. She's also the mom of a 24-year-old with Down syndrome. Dr. Kevin Mintz is a T32 postdoctoral fellow in ethical, legal, and social implications of genetics and genomics at the Stanford Center for Biomedical Ethics. He holds a PhD in political science from Stanford. Before pursuing his postdoctoral fellowship, he trained at the NIH Department of Bioethics. His work has appeared in a variety of venues, including Genetics and Medicine, the Hastings Center Report, and the Los Angeles Times. He also lives with cerebral palsy. And Dr. Joe Stromondo is an associate professor of philosophy and humanities, the director of the Institute for Ethics and Public Affairs, and the chair of the Department of Classics and Humanities at San Diego State University. During the 2022-23 academic year, he was a visiting professor in bioethics at St. Louis University. His research is primarily concentrated on how bioethics can be reframed by centering the lived experiences of disability as a crucial source of moral knowledge that should guide clinical practice, biomedical research, and health policy. He has published scholarship on topics ranging from informed consent procedures to reproductive ethics to pandemic triage protocols to assistive neurotechnology. He devotes most of his present research to developing a book manuscript titled The Ethics of Choosing Disability, which is under contract with the Oxford University Press. All right. All right. I'm Dr. Stephanie Meredith, and I'm the director of the National Center for Prenatal and Postnatal Resources at the University of Kentucky's Human Development Institute, as Andrea mentioned. I receive grant funding from PCORI and HHS in the capacity of my university. I serve on the board of directors of the Genetic Support Foundation, and I occasionally receive speaker stipends from nonprofit medical and advocacy organizations. I'm also, as mentioned as well, the mother of a 24-year-old with Down syndrome, which definitely informs my perspective. Oh, I didn't show the cute picture. I forgot the slides. That's my family. All right. So research shows that the way disability is presented during screening and diagnosis can have a profound impact on the parents of children with disabilities. In fact, recent studies have shown that the moment of diagnosis constitutes a flashbulb memory, which is a memory that we remember with perfect clarity for decades afterwards. It also has a strong emotional significance, and the attitudes conveyed about conditions during that and the information provided during that moment can either empower patients and give them access to supports and services that are essential to them, or it can cause some deep emotional wounds. The moment of diagnosis is the first point on the life course that has long-term impacts on patient and provider trust. That means negative diagnosis experiences are particularly damaging when a medically vulnerable population loses trust in the advice of medical professionals about critical care, ranging from vaccinations to spinal repair in babies with spina bifida. And research has shown that negative diagnosis experiences particularly damage trust among parents of color. In addition, people with disabilities comprise a population that desperately needs to be connected with supports and services in order to address social determinants of health, like supplemental security income and Medicaid. So that's a really important component in making those connections. In our recent study of 242 parents of children with Down syndrome who received a diagnosis between 2016 and 2021, so really recent, we found that only 29% reported receiving any information about supports and services like early intervention from their OBs, while 64% received information about medical issues. Regarding the information provided to patients, these data show a strong tendency to prioritize information about the medical aspects of disability over the supports and services, which are also vital to those social determinants of health. And that still leaves a third of the patients indicating that they didn't receive any information about either the medical or the social supports and services, which leaves those patients feeling really alone and confused as they're kind of dropped the bomb of the genetic information but not given the support to understand it. Regarding bias, we found that 61% of OBs delivered a Down syndrome diagnosis as bad news or said, I'm sorry. And we used this as a measure for implicit bias. And when we separated the biased and the unbiased obstetricians into two separate buckets, what we found is that those who demonstrated implicit bias were significantly less likely to provide information about Down syndrome, life outcomes, advocacy organizations, available supports and services, and most significantly less likely to provide more comprehensive prenatal care. I'm happy to share with you that we also had results specifically for geneticists and genetic counselors, which should be published soon. And fortunately, those results were better for this discipline. But there's still room for improvement. When we evaluated the qualitative responses from the families, specifically looking for both implicit and explicit bias, about 9% of parents described explicit bias. This doesn't sound so bad until you realize that this amounts to about 1 in 10 OBs providing blatantly discriminatory and incorrect information, such as telling parents, and this is in the past eight years, that their child with Down syndrome will be a burden with a low quality of life or ultimately end up living in an institution. Now, the good news is that we have measures we can take to address these issues. We have free condition-specific resources, which we have available to you, informed by experts from the major medical, genetics, and disability advocacy organizations, including ACMG, to better frame those diagnosis experiences, as well as free evidence-based training modules about how to discuss disabilities, which are available for free CEUs. We have resources that are available We have resources, tools, and training to improve these critical diagnosis experiences, particularly at the delicate intersection of reproductive and disability rights, where clinicians need to be both non-directive and non-discriminatory with patients who are emotionally vulnerable. In doing this work, we need to recognize that people with disabilities are officially a health disparity population, according to NIH, that faces inequities in health care, inequities in social determinants of health, and discrimination based on their identity. Therefore, as genetics and health professionals, it's important that we intentionally apply the disability social justice lens, starting at the first point on the life course and across the lifespan, which my friends on the panel will discuss. Thank you. I brought it back. So, I'm Dr. Kara Ayers. I'm going to speak a bit about the evolution of language about disability and also the ways that we make sense of disability in our world. I'm a salaried faculty member at Cincinnati Children's, as well as grant funded with a few different mechanisms, and I'm a Board of Governors member at PCORI, but I do not foresee any conflict of interest with these roles today. I've compiled a list of resources and references that are available via this QR code, and I encourage this to be kind of a living document, so it should be available to edit as well if there are resources that you'd like to add, and I'll share this one more time at the end of my talk as well, but as I'm going to discuss, I think the obligation to unlearn ableism is one that we all share, and it's an ongoing obligation, and so some of these materials are directed towards that goal in mind. So I have specific positionality with these issues, and some of that positionality relates to my academic position where I'm an associate professor, and I have the privilege to be able to research and teach about these issues, but some of that positionality also relates to the fact that I'm a disabled woman who has a disabled partner, and is mother to children with and without disabilities, and those roles have definitely taught me different lessons and continue to teach me different lessons as we all evolve. So this is a photo of my family. My husband and I both have osteogenesis imperfecta, and we have three children. Our oldest, our son, is Eli. He has achondroplasia, and then we have Hannah and Riley as well who do not have disabilities, and our service dog, Rocky. So these issues are deeply personal to me, and I think that, so I was trained as a clinical psychologist, and I think that one of the points of difference that I have now when I look back upon my training, which wasn't that long ago, is that we were very much taught, don't study anything that's too close to you because you'll have this bias that you won't be able to kind of untangle, and I'm glad that at some point I kind of went against that advice because while I think it's critical that we're aware of our bias and perspective, I also know that the richness of experiences that I have the opportunity to explore and to bring to the work that I do as well definitely informs it in different ways than some of my colleagues, and so I think we need to revisit that idea that we don't want to explore and research and work too close to ourselves because I think we're all interconnected, and we definitely need those voices, especially the people most impacted by these decisions that we're making at the table. It's not without its challenges. It definitely is much harder to kind of disconnect and to not feel things as very deeply personal, but I think that there are mechanisms to explore that can help us with those processes as well. So first I wanted to start with some level setting with some language around disability. I'm a little bit of a language nerd. I've published an article. It's referenced in the list as the first article there around evolution of language about disability, and so in part we talk about the two general kind of approaches that are most frequently discussed are person-first language and identity-first language, and each of them have their own rich, interesting history, and just as a spoiler alert because I'm sure you're eagerly pulling up this article, I'll give you the quick cliff note is that both approaches to language are very valid. They both have their own reasons and preferences and groups, and so really our takeaway from that article is that you should listen to the way people are talking about their disabilities, follow their lead, ask them if you're not clear, and just having that conversation can be so helpful in kind of informing you about where a person may be sitting in their perspectives on disability and their identity development, and all of this matters so much more than I think just the quote words when we just argue about, well, fine, but just tell me the right way to say it. So a quick summary of the history is that person-first language is usually accredited to Kathy Snow. She is a non-disabled parent of a now adult child with a disability, and so her kind of marketing message was disability is natural. She had a really great website that had gardens and fruits and stuff, and the whole idea was that disability is in our animal world, it's in our plant world, and disability is natural, and so we need to talk about it in a way that brings us to a place of comfort, and her stance was that you do that with a formula of kind of person-with diagnosis, and so most of us probably in our training have either been explicitly taught that or we've noticed, if we have noticed, we've been modeled that by those around us, but it's not the only way to talk about disability. So largely led by the autistic self-advocacy movement, people came forward and said, you know, this doesn't quite explain me. Like, I'm not a person who's carrying my autism in a suitcase. I had a mentor of mine, when she questioned why I was identifying with person-first language, she said, you would never say you're a person who is a woman, would you? And so I thought about it more, and I thought, no, you know, I'm proud of my disability, and so I tend to volley back and forth because I work in a lot of different spaces with students that are at different kind of stages of their learning, and so both approaches are valid, but it is important for you to know that there are different approaches and there are reasons behind those. Not everybody has maybe thought as deeply about them as I have, because not everybody is quite the word nerd, but there are definitely reasons. If you aren't sure, I think, you know, again, asking, listening is where you can land back on, and I do think that with some of the criticism that the disability movement has fairly, you know, raised with the person-first movement, I do think it is important to remember that part of that campaign of sorts was to move past some really outdated and derogatory terms, so that's definitely valuable among the many contributions. So I hope that among your goals today that you'll think about where does disability reside and who gets to decide the meaning of disability, and really thinking about who has decided that meaning for you to this point and that you can pivot to this point as well and ensure that you're informed about the disability, the meaning of disability by different stakeholders and different voices than you may have had a chance to learn from before, and we also need to start with our thinking about what are truly the main barriers for disabled people, and usually when we look at theories around disability, we divide these approaches. There's multiple models of disability, but I've distilled them down to just two when we think about where do the barriers related to disability come from, and so the medical model of disability would view that disability is a deficit within the individual, so when we look at a list of symptoms to try to understand disability, that's a medical model approach, whereas the social model of disability acknowledges society's role in disability, and through my own identity development, I definitely have very vivid memories of in college where I was for the first time surrounded by a lot of other disabled people having this realization that it wasn't so much my OI that was making it challenging for me to do X, Y, Z, but instead it was barriers that were put forth or left forth by society, and so for me and for many others, that's a really fork in the road for how you view disability and what you view as needs to be, quote, fixed, and I think that it's valuable to help assist people to get to that point with their disability because living with the idea that you need to be fixed has an entirely different effect on your identity and even what you pursue in life with that in mind, so there are multiple different examples to help you kind of unlearn this medical model only approach that you've almost certainly been taught, but really it gets to the idea of thinking about when you encounter a barrier related to disability, how do you think about it and how do you talk about it, so this image has some ideas about medical model gives the idea that I need to be fixed in society, social model gives the idea that society needs to change so I can fit in, and then there are some examples like I can't go to the cinema because I'm deaf versus social model would teach the cinema hasn't provided closed captions, so it's a different way of looking at disability and understanding how it functions in society, another example might be an individual can't work here because they can't go upstairs and in contrast to that, the building doesn't have a lift or a ramp, so for me, I think also when you start to see these differences, you can't kind of unsee them, you start to realize the way that our media portrayals fail to recognize social model, a few weeks ago, there was yet another viral clip, you may have seen it of a dad at a subway station that the elevator was broken and the dad was carrying the young man in a wheelchair up the stairs, and to me, the obvious headline for that article is, oh my gosh, what a problem that our elevators are broken so often across subways, but the more obvious to media headline was this man is a hero that he carried his son up these steps, which to me doesn't lead us to a solution that betters it for the rest of us or for his son the next time, but we really have to actively work to unlearn the medical model, because it is so strongly embedded in the way that we think, we also have to work to unlearn ableism, there are many different definitions of ableism, my favorite that I go back to over and over again is one by the scholar pictured here known as T.L. Lewis, and I'm gonna read it for accessibility as well, so ableism is a system that places value on people's bodies and minds based on societally constructed ideas of normalcy, intelligence, excellence, and productivity, these constructed ideas are deeply rooted in anti-blackness, eugenics, colonialism, and capitalism, this form of systemic oppression leads to people and society determining who is valuable and worthy based on a person's appearance and or their ability to satisfactorily reproduce, excel, and quote behave, you do not have to be disabled to experience ableism, and I think that last point is one that really hinges about why this is a critical area that we all need to commit to in terms of anti-ableism to move forward our goals related to health equity, and that I think too often we think about these issues as impacting just a few, and even if we find them important and we wanna help, we're still basing our motivations on this idea that these issues are just impacting a few, and it's not the case, ableism is impeding all of our outcomes, all of our healthcare systems, and so hopefully that provides some additional motivation for various levels of systems to address it as well. When I teach about ableism to different groups, I use this ominous image of smog coming out of like a factory maybe, and I do it for a couple of different reasons, one reason is that some ableism is explicit, as Dr. Meredith discussed, in that we would probably all agree that a statement made during a prenatal diagnosis appointment, we look at it and we say, okay, that was ableist, but there is so much more ableism that is what might the smog look like a mile or so from this area, where we might have more of a debate, and so that implicit ableism is just as poisonous, literally, to our health as we breathe that in, and in some ways, more harmful when you discuss it with disabled people because they're not believed, they're dismissed, it feels like that it's quote, in their head, and so this image helps me remember that there are different types of ableism and that they're all harmful for our health. It also reminds me that, you know, despite I was born with my disability, my parents had a child with a disability, but none of us were given smog masks to protect ourselves from ableism itself, and so we all have to work to unlearn ableism. Internalized ableism is a term that we give when people with disabilities have internalized these messages of being less worthy of a healthy, full, productive life, messages that our lives are automatically presumed to be lower quality because we have a disability, rather than listening to us about our quality of life and how we actually experience it, so unfortunately, we never get that smog mask at any point in our life, so what that means is that we have to continue to work to unlearn these messages, identify these messages, and I think this is critically important. You know, I'm also a parent of a child with a disability, and as he traverses his own identity development, I'm reminded over and over again, as teenagers will do for us, that, you know, it's an ongoing journey. You never get through it. I do think I'm given a little bit of a leg up as somebody who also grew up with skeletal dysplasia, but, you know, he reminds me often, you know, that I'm as clueless of a mom of a 16-year-old as any other mom, so, but I think we do a real disservice with some of the messages that we send about parents of children with disabilities when we give this idea that the moment that you have this child, you know, a light switch turns off and you've somehow magically unlearned all of your ableism. It's just not reality, and we are, you know, foregoing opportunities to learn that would better not only these children, but the families and our society as a whole. The outcomes of ableism are really serious. There's less access to quality healthcare, which is, you know, which is amplified by distrust that often grows over time. There's higher chances of misdiagnosis, less healthcare services used, and also miscommunication, which can have the ultimate worst outcomes when we look deeper into that. You know, the good news is is that we can reverse ableism, and we can work to untangle it and work towards anti-ableism within our systems and within our interpersonal connections with patients and families as well. Ableism is caused and maintained by an inability of leadership to design and develop appropriate systems that will end oppression. So I think in some ways that is a frustrating realization, but to me it's also a call to action and a realization that this is not hopeless, that we, you know, we can move the needle towards anti-ableist approaches. There are so many intersections of disability and reproductive rights that fall under this umbrella as well that I think it was worth pointing out these intersections as I close out. And so just some of the many kind of concepts to think about are bodily autonomy, the idea of self-determination, equality and equity, and inclusion. And we see that from every point in reproductive rights, from starting with sexual education and the deficits that many students with disabilities, children with disabilities face, and even getting what is, you know, very minimal but important education in our school systems, all the way up through genetic counseling that pregnant people with disabilities may experience. And so I think it's critical if you kind of wanna take these like large ambiguous theories or concepts and apply it to issues in the field, I thought this was a helpful example to end on. And I think it's critical to realize that there are many reasons and ways that disabled people are denied reproductive rights, or I should say reasons given, and that this is not something that happened in the past. This is still ongoing. Sometimes I think we learn about like the history of sterilization, and we think that this is ended or it's over, and that is unfortunately not the case. We still continue to see sterilization be requested, asked for, granted, with minimal to no other efforts invested in looking at, you know, alternatives or supporting these families in other ways. One example of that is menstruation suppression without consent or without informed consent or discussing it with the individual and what that means. We also too often hear of denial of assisted reproductive services, and sometimes some of the families that contact me, that relates to the way that IVF clinics deem a successful outcome, in that even if their baby is born healthy and happy, but with achondroplasia, or and with achondroplasia, I should more accurately say, that that's not deemed a successful outcome, so they're denied services at those clinics. And then explicitly denial of parental rights, often right from the hospital. Unfortunately, it still continues that many babies are removed from their families on the presumption of abuse and neglect, despite just enormous amounts of research that have shown time and time again that disabled parents are not more likely to abuse or neglect their children. So this continues on the basis of ableism. Another kind of turn in the road that I've worked with, with some of my genetic counseling students who I have the opportunity to guide in their work, is wondering, you know, what will the impact of the Dobbs decision be for disabled people specifically? And what we've already realized is that the impact is immense, and we're just beginning to understand it as the community learns about this fragmented access to services across the country as well. I always want to leave on some strategies, things that you can do, things that you can work on in your everyday life. And one of those things is flipping your scripts about disability. In one way, I mean actually what you say, and what your words that you're using to talk about disability, but maybe even more importantly, the ways that you're thinking about disability. And this was an example of an intentional choice that I started making when my first child was young, when we would encounter a building or a place that we couldn't go because of inaccessibility. I wanted her to clearly understand that it wasn't because of me, her mom or her dad, but it was because of the lack of accessibility in that building. And so instead of saying we can't get into that building because I'm in a wheelchair, we say and we think we can't get into that building because it's not accessible. And really this can apply to so many different facets of life. And so that's one strategy that I hope you'll consider. And I also have a little note there that you can tweet examples if you don't mind and tag me. I would love to see those together. I'm at Dr. Cara Ayers of other scripts that you could flip about disability. Another strategy that I want you to take home is questioning scarcity. A lot of times when we step up and we suggest some anti-ableist efforts, we're met with the idea of that's a good idea, but we don't have enough of staff, bedding, money, time, the list goes on of shortages, right? And I want you to ask if when you're met with that response, whether this is an absolute scarcity, like the tank is actually zero, there is actually zero, or are we talking about a relative scarcity? Both actually have room for advocacy and leveraging and negotiating and changing, but the approaches you use will be a bit different. But I want you to ask that question to clarify. And lastly, because you may have figured out by now I'm a fan of images and the way that we think about disability and the way that we think about ableism and working towards an anti-ableist approach. And so, I do see ableism as a weed that has deep roots embedded in our system. Sometimes we say things like, the system is broken for disabled people, but actually, unfortunately, the system is working exactly how it was intended to work. And so, we need to weed out and uproot those pieces of the system that are actively harming large sectors of our communities and our families and our loved ones. And so, if you've ever pulled out a root, it can be very satisfying. And I experienced the same. When we finally are able to dismantle ableism at its roots, it takes a bit more work and thought because it's not just about making things prettier by removing kind of the ugly explicit parts of ableism, but it's going a bit deeper than that as well. And lastly, I would love to collaborate on this work further. I'm director of the National Center for Disability Equity and Intersectionality where we bring together a lot of these different topics. And lastly, if you have any disabled researchers that you work with, point them towards our disability research lab. Kevin and I are both kind of founding members of that and that's a place to build up capacity for disabled researchers. So, thank you very much. Thank you. Hi everyone. I'm going to talk more broadly about disability and the ethical, legal, and social implications of genetics and genomics. Next slide. I have no pre-mental disclosures, but as you can see on this slide, I do come at this from a particular perspective. I am a bioethicist trained as a political scientist, and it continues to amaze me that I am here not only because of my disciplinary training, but just by nature of the barriers I have faced in my career as someone who has a speech impediment and can't independently write or type. I love telling the story about my neurologist that's on this slide because I think it's so indicative of what families of children with disabilities share. And thankfully I was born to parents who never believed they had the resources and determination to defy that prediction. And again, I am only here right now because of my parents and because of mentors at the NIH and at Stanford who envisioned that a political scientist who cannot type independently and speaks a little more slowly than the average person can grow in our field, and that is both humbling and challenging for ways we'll talk about in this talk. Next slide. So Cara kind of laid the groundwork for me here, but I think it's important to recognize the two major models of disability, and the one thing I would like to add to what Cara said is that I think particularly for those of us who came to college and learned about the social model, it was so liberating that in some ways it's easy to downplay the importance of medical model thinking. It's important, therefore, I think to recognize that you as clinicians have a role to play in the empowerment of disabled people, and that's often when we're viewing the medical model as discriminatory. It's because medicine, and dare I say clinical genetics, begins from the starting point that all disabilities have to be cured. This is something called the curative imperative, and in fact people like me do just fine with cerebral palsy, but we also have colds, have cholesterol, and all sorts of health-related issues that come up particularly as we age, and I want us to think about how clinical genetics and genomics can both separate itself from the curative imperative and make room for the possibility that you still need some degree of medical intervention to live your best life with a disability next life. So I like showing these statistics because it helps folks understand really clearly the extent of the problem that ableism presents in medicine. The one I love to emphasize is that nearly 40 years have passed since the age of 90, and almost 40% of providers were unaware of legal requirements, and more than 70% of them answered incorrectly about their legal obligations under the ADA. I think that shows you how far we actually have to go in getting the ADA on people's radar screens, and actually carefully educating people on what's actually in the law, because it's a rather complicated piece of legislation next life. And just to reiterate what Karen said, this is not simply a disability issue. Ableism intersects and cannot be separated from other forms of oppression, So when we look at a patient with a disability, we really need to be thoughtful about the other elements of their identity that get them to the clinical interaction you're working with, and tailor recommendations to things that are going to work for them. This is particularly relevant, I think, for socioeconomic status as well as racism, sexism, homophobia, and the like. Next slide. So, again, you're probably glued into this by now because you showed up today, but clinical genetics has a very broad history with the disability community, and I think the image on this slide points out the prevalent thinking that has contributed to this relationship, particularly when you're trained to identify the causes of disease. It's very easy to think of the genetic variants that cause diseases, mistakes, when really they're a form of natural variation, and it's our ethical responsibility, I think, to be more thoughtful about how those different variations will actually affect quality of life and cater what we do or recommend to maximizing quality of life. Now, I know there's going to be some skeptics in the room that point to some horrible, rare genetic life-limiting condition and say, well, shouldn't we cure that? And I will tell you that there's always room for cure, and we can't categorically say that cures are bad things, but we need to be more thoughtful about the circumstances under which we cure a condition, and how we treat it versus other sorts of things. I'm doing a study of folks with rare and undiagnosed disease, which is grappling with how they think about disability identity and what I have learned from my interviews is that disability is simultaneously a potential source of stigma for these families, and yet they spend half of their time with me talking about how wonderful their children are and how they don't want to deny their challenges or label them negatively. And I hope, as all of you, we can work to a place where disability is a conversation starter for optimal coordinated care and support across the lifespan and not a tragedy. Thank you to everyone who has gotten me on this stage and with this job. I told Dr. Meredith that I would kind of use the podium, too, so she didn't feel alone. So I am Joe Stramondo from the San Diego State University. And I am going to talk about storytelling today, which I think all of the panelists have already sort of done some of, and I think you can sort of use some of the stories they've told as examples. So philosophers don't get grants, so I have nothing to disclose. If you know of anyone who wants to give me money, then please point them my way. So there's supposed to be a picture on here. Sorry. So in 2002, there was this famous case of two women who were partnered, Sharon Deschanot and Candy McCullough, who were deaf and wanted to have a baby that was also deaf. And they refused service by their local sperm bank because they wanted to deliberately find a sperm donor with a genetic history of deafness. So they found a family friend instead and successfully had a child that was deaf. And so this is sort of the starting point to my talk because it is a story of choosing disability that is, of course, very controversial. Some quotes from the moms, Sharon said, a hearing baby would be a blessing, a deaf baby would be a special blessing. And Candy said, I would say that we wanted to increase our chances of having a baby who is deaf. And so notice how they're not saying that they only wanted to have a deaf child, right? But they just sort of had a preference for it. So a common response to this kind of desire to choose disability, which I think is sometimes leveled toward disabled people that are seeking out genetic interventions and reproductive technology, is that you should select against disability because if you select for disability, you are harming the future child in some way by restricting their options in life, right? And so, you know, it's the idea is that, well, it might not be bad to be disabled, but if you have a choice, you should choose against it because otherwise you would be restricting their options, okay? And so as a philosopher, I always try to turn everything into a formal argument with your premises and your conclusions. So here we have, you know, the gratuitous slide with the formal argument on it. Premise one saying having a disability leads to restriction in a person's life options. Premise two says that if somebody typically or if something typically leads to a restriction in a person's options, then it's bad for that person. And then the conclusion is that having a disability is bad for a person, and therefore there is reason to select against disability in future people. So pretty straightforward argument. What I want to do today is not actually challenge that argument, but instead talk about the assumptions baked into premise two and how those assumptions and narratives and stories that we tell about disability actually impact existing disabled people in the world and have a sort of unintended and almost paradoxical result, okay? So basically what I want to suggest is that assuming that disabled kids will have fewer life options is a kind of self-fulfilling prophecy, okay? And so by making the sort of restricted life options argument, what people are doing is in effect restricting people's options in life, okay? And the way this all works is that the stories we tell to ourselves and others about what disability means determines who disabled people can be and what we can do. And so if genetics professionals or really anyone, right, it's not just genetics professionals that sort of tell stories about what disability means. But if genetics professionals tell stories about disability equating to fewer life options, then it helps construct a world in which disabled people end up having fewer life options. So let me back up a minute and talk about identity construction and the way that stories or narratives come into identity construction, how we understand who we are and who others are. Okay. So the model of identity that I'm using is called the relational narrative model developed by Hilda Lindemann, and she says that it's relational because who we are is a function of what we believe about ourselves and about what others believe about us, okay? And it's narrative because all of the work of identity construction is done by storytelling. Who we are is constructed from shared stories. So let me unpack this a little bit. From the first person perspective, Lindemann says, identities are constructed from the first person perspective through the loosely connected stories we weave around the things about us that matter most to us, the acts, experiences, and characteristics we care most about and the roles, relationships, and values to which we are most deeply committed. So the stories that we tell about who we are, okay? Then we also have the third person stories, okay? And so she says equally necessary to our identities is the narrative activity that takes place from the third person perspective. Other people weave the things about us that most matter to them into stories that also constitute our identities. So the upshot of all of this theory is that identity is sort of at the intersection of stories that we tell about ourselves and stories that others tell about us. And so where the first and the third person narratives meet is where you find human identity, okay? And so to be a certain way, in other words, you need to self-identify in that way, but you also need uptake from others for that story to take hold. And so the story I tell about who I am must sort of agree with the stories other tell about who I am for it to actually be who I am, okay? We see this in all sorts of spheres right now, right? This is really big right now sort of in the politics around trans identity, right? And so, you know, to be trans, you need to have, you know, that identity that you put forth into the world, right, that you'd sell a story about who you are, but then you also need uptake from others to sort of allow you to be that in a sense. Now all of this doesn't happen in a vacuum, right? All of these stories that we tell about who we are and who others are happen in the context of what Lindemann calls master narratives, okay? And so master narratives do a lot of this work, and she refers to them as the stories found lying about in our culture that serve as summaries of socially shared understandings consisting of stock plots and readily recognizable character types. And so master narratives aren't always a bad thing. In fact, they're quite necessary for developing an understanding of the world and your place in it, right? They're just sort of the stories that we can draw upon to make sense of things, to make sense of who we are and who others are, okay? And so they help us tell the story of ourselves, and they also help us understand the stories that others are telling about who they are. So some examples would probably be helpful. This happens with the master narratives coming into play, both from the first and the third person perspective, okay? So from the first person perspective, we can draw on master narratives to tell our own stories. When I say that I'm a father or a collegiate sports fan or a philosophy professor or a disabled person, I'm constructing myself from these socially shared meanings, right? I say these words and they mean something to you. They draw up in your mind different stories about what I must be like, right? And we also interpret others and who they are and what we can expect from them by referencing these master narratives from the third person, right? And so I don't expect my student to show up to class in a clown suit, right? Or I don't expect my kid's kindergarten teacher to drive a Ferrari, because these actions don't fit with the master narratives of those identities, okay? So all of this is important to the broader theme of what we're here to talk about today because of the ways in which narrative identity impacts agency, impacts the kinds of choices and actions that someone can make, okay? In other words, it sort of really simply boils down to the idea that who you are determines what you can do, okay? I'm not a surgeon, so I'm not allowed to remove someone's gallbladder, thankfully. You are not professional philosophers, so you can't teach my introduction to ethics classes at San Diego State, okay? So who you are determines what you can do. Both the stories you tell about who you are and the stories that others tell about who you are determine what you can do. So this all comes back to the master narrative of disability, the stories we tell about who disabled people are and how that impacts their agency, that impacts what they can do, okay? So when medical professionals like geneticists and genetic counselors or OBGYNs or whomever, right, tell a story about disabled people having restricted options in life, then that storytelling contributes to disabled people having restricted options in life, okay? And so the master narrative that equates disability to fewer worse life options creates an identity for disabled people that ends up giving us fewer worse life options. So there's, you know, a proliferation of examples that I could draw on to sort of illustrate this idea of, you know, telling a story about disability equating to fewer life options resulting in a disabled person or disabled people having fewer life options. What I'm going to hone in on here is the stories that we tell around disability identity and marriage, okay? Because I think that's a, you know, while marriage, you know, I'm a philosopher and so there's philosophers that argue against marriage and say that marriage is terrible and that we shouldn't have marriage and we should do away with marriage and so on and so forth. But I'm not going to get into that. Instead I'm just going to sort of presume that the option to marry is something that lots of people want and that is good for many, many people. And so I'm just sort of going to take it at face value, okay? So there is this master narrative, though, that a future person with X disability, maybe Down syndrome, maybe muscular dystrophy, maybe spina bifida, will probably not be capable of ever marrying and having a family, right? And this is something that's told to a lot of new parents when they have a disabled child, right? We heard sort of similar kinds of narratives today from some of my fellow panelists. This was actually said about me when I was born not too long ago. I have some gray in my beard, but I was born in the 80s, and the OB that delivered me told my parents that they should institutionalize me right then and there and that I wouldn't ever be able to have a normal life and that I would be a burden and that I wouldn't have a future, presumably not having the option to marry. So this is a thing. This is a thing that's still said and still assumed. And so the result of that master narrative, right, the result of that master narrative of disability equating to a restricted life option that a lot of people do want is that the identity of current and future people with whatever disability it is often ends up precluding marriage and family from both the first and the third person perspective, okay? Again, a self-fulfilling prophecy. So from the first person perspective, person with X disability can internalize the master narrative, right? Kara was talking about internalized ableism. This is an example of it, right? They can internalize that master narrative that they cannot marry and have a family, and so they don't seek this out as a life option. It's not part of their self-identity, not part of what the story is that they tell about who they are or who they want to be, okay? And then it's also true that from the third person perspective, society organizes itself according to this master narrative that people with X disability cannot marry and have a family. And so structural ableism discourages or prevents this option because it isn't part of how people with X disability are identified by others, okay? So how does that actually happen from the third person? How does structural ableism sort of preclude the option to marry? Well, one thing that happens is that marriage penalties can drastically reduce or eliminate state assistance for disabled people if or when they marry, right? And so you can lose all sorts of benefits if you marry, right? And so these include things like income entitlements, SSI, SSDI, health insurance coverage, housing assistance, food assistance, home and community-based caregiving, right? People can be literally at risk of institutionalization by becoming married, okay? And so this is because, I think, the master narrative of disability says that if you are really disabled and deserving of state assistance, then you're also not the kind of person who would marry, right? It has to do with this self-fulfilling prophecy and this master narrative of how you are disabled by others, by being identified as such. Okay. Oops. Sorry. So what can we do about it? Why am I talking about all of this to all of you? Well, the good news is that, like Kara was saying, we're all a little ableist, right? It's not that it's just genetic counselors and genetic researchers and geneticists that are, you know, telling these master narratives. It's sort of everybody that's telling these master narratives in one way or another, right? And so medical professionals are not the only ones that perpetuate these kinds of oppressive or harmful master narratives that reduce life options for disabled people. But you all are in a position of power, right? You are all in a position of contributing to the stories that are told about disability that then sort of seep out into the rest of the world, right? Whether that's through your research or through your clinical practice or through whatever, you are sort of telling a story about disability as you do this work, right? And so the stories told by biomedicine, including genetic medicine, can and do function in this way, okay? And so the best, I think, that we can do is produce what Lindemann calls counter stories. And so counter stories are stories that are told about a marginalized identity, right, that do some of the work of challenging the oppressive master narratives, right? And so what you can do is learn about how structural labelism reduces the life options of disabled people and work to tell stories about disability, whether it's in your clinical practice or in your research or so on and so forth, that challenge rather than reinforce this kind of structural labelism, okay? And so there's, you know, a myriad of ways to do that work, to do that sort of process of learning. Just showing up here is a great start, right, to hear us all talk. There are so many different resources out there, some of which have been shared today already by Stephanie and Cara, but also there's lots of memoirs and there's lots of, you know, media representations that are positive around disability that can sort of give you the language and the narrative resources to be able to tell a better story about disabled people and who we are and what we can do. So thank you. APPLAUSE And we're really fortunate to have about 15 minutes for discussion and questions, so I would really encourage audience members to get up. Know that this is a safe space. And we also have some of the questions that have been posed online, so we can address those as well. So I'll give, I'll be happy to start with this first one for the panel. Do you think the definitions of bioethics principles change when it comes to disability? Can the bioethicist answer that one? So, I don't think the basic definitions of autonomy, justice, and change as a much as the definitions become clarified and expanded by disability. I have autonomy. For example, at least I would hope you would think I do because I'm on this stage. But it is a different vision of self-determination than it might seem for an able-bodied person. And this is why I think Joe's work is so important. allow us to re-envision what bioethical principles look like in practice. If I could chime in real quick, too. I agree with you 100%, Kevin. So, this was actually the topic of my dissertation. And so, I actually have a paper that relates directly to this question called Why Bioethics Needs a Disability Moral Psychology. And it argues basically that, like Kevin said, the basic definition of the four principles don't change when you consider disability so much as the interpretation of them can change. And so, if you consider the lived experience of disability, we'll take autonomy for example. If you consider the lived experience of disability, in practice, what it means to be autonomous might be very different than for a non-disabled person. And so, this is an exercise that I do sometimes with my students. And this might be a little dated now. Maybe I need to change it to Taylor Swift. But I used to say, are you disabled or are you Lady Gaga? Because a lot of the things that a disabled person gets help with are also things that rock stars get help with. Sometimes we have a driver. Sometimes we have someone that helps us with getting dressed and getting groomed and sort of all of these things that Lady Gaga gets help with. And the difference, though, is not that Lady Gaga is somehow more autonomous than someone that has a personal attendant and needs help with all of these things. The difference is that there's stigma attached to disabled people getting help with these things. And so, the idea that someone isn't autonomous if they need help with these things is really very stigma-driven. And so, looking at a principle like autonomy from the perspective of disability can help you with that frame shift, right? To sort of see how the principle can be reinterpreted in ways that consider the lived experience of disability so that you start to understand that autonomy doesn't mean that you have to be able to tie your own shoelaces or something. Thank you. I did want to chime in just for a second as an answer to that, too. As a parent, what that might look like, too, is for informed consent, for example, I have a son with an intellectual disability. And that means that it's incumbent upon me and upon his medical professionals to provide information directly to him and in plain language in order to obtain that informed consent. And we don't just make those decisions for him. And understanding that a lot of our bioethics principles were derived from, for example, the tests that were performed on people with disabilities for hepatitis in institutionalized settings without their consent. And so those are just, I think, maybe different manifestations of it. I think we had a question on mic, too. Is that right? Sure, but I don't want to bug. No, no, please. So this may overlap. I thought it might. But just in case, I thought I would preface that a bit. But my name's Jackie. I'm a genetic counselor at Children's Hospital of Philadelphia. And I'm the genetic counselor for what we call a STRIVE program, which is the supportive team approach to reproductive variations. It's where we see individuals with intersex traits and variations of sex characteristics. And one thing I think a lot with our patients who are both, like, adolescents and adults, and even when we're supporting parents of young kids, is, like, how do I best support this, like, possible future identity while, like, balancing that with, like, trying not to over-medicalize something while at the same time thinking that, like, we do maybe need to think of things like potential biopsy over time of gonads or need for hormones over time. So how do you feel like we as providers can potentially both best work to support those identities while balancing that sort of how not to or less to, like, over-medicalize? I can start with this one. So I think that, as Kevin mentioned, these, you know, a medical model and a social model approach are not actually in opposition to each other. It's important, I think, as you frame maybe the benefits and the risks of certain interventions that you're understanding all of the, you know, social aspects and societal aspects at play. And that can be really difficult because largely those are not necessarily taught in our training. And then if you layer that on top of the fact that many health care providers don't have a lot of, you know, friends. They don't have a lot of colleagues with disabilities. So it's like, where are you learning this information to be able to give that advice? And I know that from my own experiences and experiences with my kids with getting health care, when I'm able to talk about, like, the real functional benefits of a procedure, it means so much more to me and it helps with my decision-making. And sometimes it's not immediately apparent. So I don't walk with any kind of, like, functional purpose in my everyday life, but it is super important for me to be able to stand up and transfer in my van because that's how I have buckled my kids in. That's how I get in my, you know, in my van seat to drive. So maintaining the functionality to do that has been like a driving force of making decisions about, you know, interventions or not. But, you know, I've had to have a trusting relationship with providers to help them understand that, no, I don't, quote, walk, but no, I also don't want my hip fused to where I can't, you know, stand, even though it might be more tricky to piece it back together after a fracture. So I think recognizing how those aspects come together can be helpful. Kara, I also really appreciate how you pointed out where are we getting our information. I know a number of genetic counselors, really well-meaning genetic counselors, that follow, for example, blogs of parents who are in great detail describing the lived experiences of their children through medical procedures and really vulnerable moments in their lives. And are there other voices that should be amplified instead? You know, where are we getting our information and what resources as providers are we pulling from in order to then disseminate information to new parents or people with new diagnoses? And so really stepping back and thinking about the information you're sharing and the source of that information I think is critical in moving your own skill set forward. Yes, go ahead. Were you first? Okay. Go ahead. Hi, everyone. Thank you so much. This was an excellent, excellent panel, and thank you for sharing your experiences and educating us. My name is Amy Patterson. I work as a genetic counselor at Johns Hopkins and primarily work with skeletal dysplasias. I have been trying to help and facilitate disabled individuals, especially in my clinic, trying to get access to IVF services, and I've met with a lot of backlash from IVF providers citing the Hippocratic Oath, citing that in this era of litigation they might get sued in the future. Do you have thoughts from a biomedical ethics and moral standpoint of what I can kind of respond to them with or ways that we can combat that? Yes, sir. Okay. Yeah. I would actually lean into autonomy. I would lean into patient autonomy as being sort of a crucial piece here and make the argument that especially, I mean, I'm assuming you're talking about disabled parents wanting IVF services, right? Both disabled parents and what you had cited earlier about increasing the chances of implanting with a deaf child, for instance, a child with achondroplasia. Yeah, and so disabled parents that want to have disabled children of some kind, right? And this is, of course, when you're talking about achondroplasia, complicated because of the double dominance problem and so on and so forth. I actually have a paper on this too that I can tell you about later. But I would say that lean into autonomy and emphasize the idea that the people that are asking to create a child with achondroplasia know more about what it's like to have achondroplasia than you do, right? And so they're the ones that have the knowledge of what they're actually asking you to do. And so you ought to respect that autonomous decision because they have a truly sophisticated, well-rounded understanding of what it is that they're asking you to do. It's not like it's somebody with no knowledge of what it's actually like to have a disability sort of trying to get you to create a disabled person. Whereas we actually celebrate that often when the adoption process is adopted and I was shocked that there's literally no expectation or standards for adoptive parents to learn about the disability that they're adopting, the identity development of that child. There's required trainings about transracial adoption, as there should be, but we celebrate parents who adopt a child with no knowledge but yet we scrutinize and gatekeep. I mean, I would bring up the gatekeeping issue too, or gatekeeping technology for only a select group of people. Building on that framework as an equity issue. Get all the principles in there. I actually, I think this question translates nicely to some of the questions that are coming in. Oh, sure. Yes, go ahead, Dr. Manick. I'm Ruge Manick, I'm from Nationwide Children's and actually follows up very much on this. What I wanted to bring up was it's not just the person with the disability or with the genetic disorder we're treating, but it's also the parent. It's this idea that a parent has had the lived experience of having a child with a disability and I sometimes will use the example of cystic fibrosis when I'm teaching that having one child with cystic fibrosis can be difficult, but having two children with cystic fibrosis is exponentially more difficult. You take then the account of the family that's had a child who had a life-limiting disorder and they don't want to go through the pain that it caused them. I turn around a little bit on this, that we're also treating a parent who doesn't want to go through this experience again. I don't want to dominate the conversation, but I could respond. I think that that's absolutely right. That's why we have to think about cases as individual cases. I think that not only are there differences in the lived experiences of disability and that disability is just such a huge, wide variation of kinds of embodiments and kinds of experiences, but there's also just radically different contexts. Some of the arguments that I was making today, I'm not saying that we should never avoid disability and that we should never use genetic technologies to prevent disability and so on and so forth, but just rather that we shouldn't say never in the other direction either and that we should have a broad understanding of the different options that should be available to patients and their families. Thanks so much. I know we're kind of running short on time. I did want to make sure people know there are resources available here for you at the front if you want to come get them, that are patient education resources. If people want to stick around, I know that we have one more question at the microphone. I think it'd be really great to hear your last question and thank you for waiting. Hi, my name is Cade and I am currently a genetic counseling assistant at Tulane, but I am also a future genetic counselor. There has sort of been various movements to center the experiences and allow into professional spaces people with physical disabilities that primarily do not impact their intellectual abilities or communication methods. And I think that there has been less on trying to allow people with intellectual communication or cognitive disabilities to integrate into all roles in society. So how do we also center that as genetics professionals? Can I answer that? I think it's important, particularly in this case, to try and recognize that in an academic field like genetics, intellectual disability is going to be extra stigmatized because we're all here because we value intellectual achievement. So as simple as this sounds, be mindful of that and then on the practical side, think about how to design programming that's not jargony. And I know Stephanie has great resources for that. Thanks so much, Kevin. And I would like to add in there too that there is a term in the disability rights scholarship about the hierarchy of disability that certain disabilities are considered acceptable, others are not. And usually on that bottom rung is intellectual and cognitive disabilities. But that doesn't actually hold up with what research tells us about people's quality of lives. There's a famous quality of life study for people with Down syndrome where I think 99% said they were happy with their lives. What percentage here would probably say that? So I think that it's really important that as professionals who are concerned about equity that we don't buy into that hierarchy of disability and that we look for opportunities to include everyone because it certainly can be done and we can look to different disciplines where it is done. And I feel so bad because we have so many good questions on here that we will vigorously attend to. And we're able to stick around as a group up here if people want to come up to the podium and ask questions. Our contact information, the speakers have posted it. My email is also within the ACMG. You can find me on the app. But we are always excited to collaborate with people who want to learn more. Keep fighting the good fight. Keep challenging yourself in this space and your colleagues. One person thoughtfully said to me, it's not you, it's the words you're using. Not to me personally, but to a larger group of people. And she goes, that's the philosophy I live by. Let's keep challenging those around us in a thoughtful way. And with that, please come ask questions if you have them. Thank you. And please, for the love of all that's holy, come get resources so I don't have to take them home.

representation

individuals with disabilities

genetics

genetic counseling

diversity

inclusive conversations

training programs

disability rights

health equity

ableism

ethical considerations

autonomy

patient-centered care