FROM THE STACKS
EDITOR’S NOTE: There are literally thousands of journals published around the world that relate to the disability community. It is virtually impossible to capture even a fraction of them. HELEN receives "stacks" of journals and selectively earmarks what we feel are "must read" articles of interest for our readers. It's a HELEN perk!
Living with Uncertainty
National Organization for Rare Disorders (NORD)
Click to view the video: https://youtu.be/JWWwauBIKsE?si=nwGIol7aoAVnx8ax
“Living with Uncertainty” is a session about mental health and resilience, moderated by Dr. Al Freedman, who was joined on stage by Col. Steven Coffee, Joanne Sperando and Dr. Maggie Kang. Many of us know all too well that the journey through life with a rare disease is often filled with uncertainty and can be isolating at times, much like Connie’s story was. This panel opened up about their feelings and shared about the mental health toll this can take on people living with rare diseases and their loved ones. They explored ways to navigate life while coping with uncertainty, feel affirmed that our thoughts and feelings
Fair Inclusion in Research
Nothing about Us without Us in Precision Medicine: A Call to Reframe Disability Difference in Genetics and Genomics
By Kevin T. Mintz, Joseph A. Stramondo, Holly K. Tabor
First published: 21 December 2024
https://doi.org/10.1002/hast.4928
Abstract
Sixty-one million Americans and approximately a billion people worldwide live with some form of disability that limits one or more major life activities. The field of precision medicine continues to grapple with how to best serve disability communities. In this paper, we suggest that precision medicine faces an ethical tension between its goal to treat or cure disabling conditions and views that consider disability as a marginalized identity. We appeal to the concepts of recognition justice and distributive justice to argue that the ELSI community should take a more proactive role in promoting disability inclusion in precision medicine's practice and research. We also highlight two priorities for the ELSI community moving forward: facilitating greater collaboration between genetics and genomic professionals and disability communities and advocating for inclusive research design and disability accommodations in the research process.
On September 26, 2023, the National Institutes of Health announced a historic decision to designate people with disabilities as a population experiencing health disparities. This designation increases research funding for investigations into the structural barriers this group confronts in access to health care and other social determinants of health.1 The NIH also recently released a Request for Information seeking public comment on a revision to the agency's mission statement that will replace the phrase “reduce illness and disability” with “to optimize health and prevent or reduce illness for all people.”2 While the long-term effects of these efforts remain to be seen, the changes mark the beginning of an important shift in how biomedical research approaches disability.
Historically, biomedical research and medicine have approached disability from what many disability scholars have called the “bad difference” view of disability, whereby the generalization is made that an impairment is always or almost always an inherently negative trait worthy of treatment or cure.3 Much of the work done in genetics and genomics is rooted in this view of disability, with what many would consider a reasonable rationale: identifying the genetic causes of disability will improve diagnostic procedures and contribute to the development of precision medicine interventions that use genetic information, lifestyle factors, and environmental data to treat disabling conditions.4
Rejecting this standard view, disability theorists either tend to maintain that disability is a neutral trait or eschew such generalizations altogether for a more nuanced, contextualized understanding of the relationship between disability and well-being.5 The standard view of disability has historically been applied in ways that neglect the negative consequences of structural ableism in medicine. Structural ableism, generally speaking, is “a complex system of hierarchical and discriminatory processes, policies, and institutions that privilege and prefer able-bodied people, fail to represent or meaningfully include disabled persons’ voices, and are grounded in a network of ableist beliefs and practices that maintain and reproduce unequal outcomes for disabled people and benefit able-bodied people.”6
Genetics and genomics face a fundamental challenge in addressing structural ableism. The goals of diagnosing and treating genetic diseases can be valuable for both individual and public health. However, treating or curing disability can involve privileging a nondisabled status in harmful ways and often requires allocating resources toward individual treatment that might otherwise be used to remove structural barriers to disability access (the ability of people with disabilities to access public spaces, services, and educational and employment opportunities). In light of the changes to NIH's mission statement, how can genetics and genomics remain focused on the identification of genetic factors underlying disability without reinforcing the problematic assumption that all forms of disability difference must be treated or cured?
Scholars studying the ethical, legal, and social implications (ELSI) of genetics and genomics are particularly well positioned to help answer this question because of how ELSI scholars illuminate the values at play in precision medicine research and clinical genetics. In this essay, we articulate how ELSI research should go about challenging structural ableism. ELSI scholarship has the potential to support, extend, and apply more nuanced views of the relationship between genetics, disability, and well-being that disability studies scholars have begun to articulate. We highlight several domains that should be prioritized for increased ELSI research to ensure that the practices of genetics and genomics are responsive to the concerns of disability communities and are used in ways that undermine structural ableism in medicine and biomedical research.
For this discussion, we draw on the concepts of disability rights and disability justice to articulate how to promote disability inclusion in genetics and genomics. “Disability justice” refers to a set of ethical and advocacy-oriented discourses that highlight the marginalization of disabled people and the ways in which structural ableism and other forms of marginalization reinforce and are even mutually constitutive of each other.7 Disability justice is seen as complementary to disability rights. Disability rights are a set of ethical and advocacy-oriented discourses that argue for the individual autonomy of all people with disabilities through antidiscrimination measures like the Americans with Disabilities Act.8 Disability justice expands disability-rights-based discussions to critically examine how structural ableism is inseparable from structural racism, sexism, homophobia, transphobia, and economic inequality.
“Genetics and genomics face a fundamental challenge in addressing structural ableism. The goals of diagnosing and treating genetic diseases can be valuable for both individual and public health. ”
We will be deploying two distinct categories of justice in our analysis of how genetics and genomics can better engage with disability. “Recognition justice” refers to the idea that individuals with marginalized identities, including people with disabilities, should be given the opportunity to participate in political and other deliberative processes about issues affecting them and their communities in recognition of their moral status as persons.9 Recognition justice challenges genetic researchers and clinicians to think critically about how they can work with disability communities to ensure that their work reflects the perspectives of individuals living with the conditions they are studying or treating. “Distributive justice,” broadly speaking, refers to institutional arrangements, policies, and practices that promote the equitable distribution of resources and opportunities across various societal domains.10 In biomedical research and medicine, distributive justice invites researchers and clinicians to proactively ensure that disability communities share equally in the benefits and burdens of precision medicine research and any interventions resulting from it.
We suggest two ways in which the ELSI community can work to promote disability rights and disability justice: helping to facilitate greater collaboration between genetics and genomics professionals and disability communities and advocating for inclusive research design and disability accommodations and modifications in the research process. We acknowledge from the start that our proposals call for what some might see as a radical shift in thinking within genetics and genomics, given the prevalence of the “bad difference” view of disability. ELSI scholars can, and in our opinion should, play a vital role in fostering this radical shift. We conclude by suggesting that more empirical ELSI research should consider how to promote disability justice for the various disability communities that are likely to become geneticized as precision medicine research and care expand into new domains.
Disability and Justice in Genetics and Genomics
One of the enduring legacies of the standard view of disability in genetics and genomics is that these fields have not been focused on the promotion of individual and public health for disabled patients. In fact, some members of disability communities have argued that the practice of genetics and genomics is antithetical to the idea of disability justice because the disciplines are narrowly focused on diagnosing and eliminating disabling conditions.11 While we understand this viewpoint, it risks reinforcing structural ableism in genetics and genomics by making it more difficult to facilitate meaningful engagement between genetics professionals and disability communities. Clarifying what disability justice means in these contexts requires being reflective and transparent about the positionality of genetics professions in relation to larger societal structures that contribute to inequities for people with disabilities by reinforcing structural ableism.
It has been almost a century since the U.S. Supreme Court decision in Buck v. Bell, in which Chief Justice Oliver Wendell Holmes sanctioned the forced sterilization of people with intellectual disabilities by declaring that “three generations of imbeciles are enough.”12 Nonetheless, genetics remains strongly associated with the eugenic legacies that the decision symbolizes. While much scholarship has criticized Holmes's use of the word “imbecile” and his lack of legal reasoning in justifying the decision, Buck v. Bell has never been overturned.13 Indeed, there is still reasonable concern among some disability communities that clinical genetics and genomics research will be used to eliminate disability difference from the population, such that advances in genetics and genomics reinforce disability stigma.14 These realities highlight the need for thoughtful efforts to elevate the values and perspectives of people with disabilities in genetics and genomics. Disability justice provides a set of analytical tools for conceptualizing how to accomplish this goal.
In the disciplines of political theory and bioethics, the principle of justice was first applied to questions of disability access by Anita Silvers and Leslie Francis, David Wasserman, Eva Kittay, and other philosophers who noted that John Rawls's theory of justice as fairness neglected the concerns of people with disabilities.15 From this criticism, an entire subfield of disability studies emerged to consider the question of what obligations of justice society has toward people with disabilities. We contend that disability justice in genetics and genomics should focus on two main domains: ensuring that people with disabilities are fully integrated into discussions of the benefits and risks of precision medicine and precision medicine research and ensuring that people with disabilities have equitable access to precision medicine research and the long-term translational benefits of precision medicine. The first domain raises questions of recognition justice, whereas the second raises questions of distributive justice.
While certain communities, such as patients with cystic fibrosis, have played a robust role in deliberations about how genetics and genomics can meet their needs, most disability communities are not similarly consulted or included in the research process.16 This lack of involvement can contribute to a divergence in priorities between these communities and genetics professionals (see, for example, the essay by Heini M. Natri and Carolyn Riley Chapman in this special report about the spectrum 10K controversy17). Disabled people who also lack racial, gender, class, or other privileges confront even more complex and recalcitrant barriers to their engagement with genetics and genomics research.18 Recognition justice grounds the need for strategies to promote robust engagement for all disability communities in a way that is freestanding from any analysis of the fairness of how the outcomes of genetics and genomics research are distributed. In other words, recognition justice calls for ELSI-motivated interventions into genetics and genomics that are prior to considerations of distributive justice.
Distributive justice involves the fair distribution of resources and opportunities to individuals across society. A growing body of literature highlights how people with disabilities are consistently excluded from the distributive calculus of biomedical research, including precision medicine research.19 The considerable health disparities that members of disability communities experience are related to inequities in income, social support, clinical care, and other goods that are distributed across society. Health disparities generated by systemic ableism are also often exacerbated by overlapping and interlocking systems of oppression like racism, sexism, heterosexism, transphobia, and classism, making the problem even more stubborn for those with intersectional marginalizations. If the role of distributive justice in genetics and genomics is to ensure that the benefits and burdens arising from precision medicine are fairly distributed across society, the ELSI community and genetics professionals must be specifically attuned to the outcomes of these systems of knowledge production for disabled people, especially those who experience multiple marginalizations. Promoting distributive justice ensures that people with disabilities have equal access to the research process and to precision medicine interventions and support services that might benefit them, especially given their socially mediated vulnerability to health disparities. Therefore, in this context especially, distributive justice requires disability justice.
The prevalence of the standard view of disability in genetics and genomics may obscure the relevancy of disability justice for precision medicine. If the aim of genetics and genomics is to identify and eliminate the causes of chronic illness, why should professionals in these fields be concerned with how individuals with these conditions live their lives as people with disabilities? After all, the standard view of disability arguably frames the mission of genetics and genomics as the eradication of disability, not seeking to understand disability as human experience. Moreover, because of the complex relationship between disability, illness, and disease, all individuals with chronic genetic health conditions may be considered members of disability communities. What, then, might disability justice look like in terms of recognition and distribution with a potentially large and diverse set of stakeholders?
The Challenge of Imagining Anti-ableist Genetics and Genomics
Many people with disabilities have been traumatized by medical communities to such a pervasive extent that they embrace the social model of disability, disability rights, and disability justice in a way that entirely rejects the medical model of disability.20 The medical model posits that a disabling condition is a pathology worthy of individualized intervention.21 The standard view of disability often motivates problematic applications of the medical model that neglect the reality that many people see their disabilities as central to their personal identities. By contrast, the social model of disability constitutes a range of views that see disability as the result of an interaction between bodily impairment and structural barriers across various social environments and institutions. Despite how the medical model has been used to justify the marginalization of disabled people, it can be applied in ways that empower them through the use of individualized interventions. To reject it categorically would be to deny the valuable role that medical interventions play in improving quality of life for people with impairments. However, applying a broader, more flexible conception of the medical model to genetics and genomics is challenging. Like many medical specialties, these disciplines have developed a very specific set of tools oriented around what has been called the “curative imperative.” Related to the standard view of disability, the curative imperative supposes that the ultimate goal of medical intervention should be to cure disease and disability. One of us, Joseph Stramondo, has written about how this imperative motivates many surgeons to use the scalpel and other surgical tools to cure disability, often without considering the lived experiences of people with disabilities and the different ways they can achieve equality of opportunity sans medical treatment interventions.22
Genetics professionals, we contend, may frequently have a similar mindset. They may seek to apply the tools at their disposal to identify the genetic causes of disease with the hope that the disease can be eliminated, either through gene-based therapies or through the application of reproductive technologies. Promoting disability justice and anti-ableism requires neither rejecting all curative technologies nor abandoning the tools genetics professionals have at their disposal to improve the lives of disabled people. Rather, it requires reconceptualizing the role of genetics and genomics across a spectrum of disability experiences to promote both individual autonomy and the highest quality of life possible. The insights of ELSI scholarship on the disability rights critique of prenatal testing are useful in clarifying this point. For instance, it is possible to hold the view that terminating a pregnancy on the basis of disability expresses negative attitudes toward disability and still support a person's right to make that choice, especially in the context of the overlapping and intersecting oppressions of class, race, gender, disability, sexuality, and so on. An anti-ableist approach to reproductive choice involves changing societal discourses around disability so that a pregnant individual can make informed decisions that are not biased by misinformation about the lived experiences of raising disabled children.23 Extending this logic to other contexts, promoting anti-ableism and disability justice in genetics and genomics requires recognizing the diversity of disability experiences in an ableist world and establishing infrastructures to allow for a variety of perspectives and individual choices in ways that minimize disability stigma.
It is important, therefore, to consider distinctions that can exist between different kinds of disabling genetic conditions and not to regard disability itself as a monolith. Clear examples of what we are underscoring include conditions such as trisomy 13 and trisomy 18, which limit child development such that most children die in the first year of life.24 While it might be controversial in the United States’ current political climate to support a pregnant person's right to terminate their pregnancy upon receiving a fatal fetal diagnosis, we think supporting that choice or advocating for the development of a genetic intervention to prevent these diagnoses does not equate to promoting disability injustice. Even in a societal context free of structural ableism in medicine, most children born with these genetic conditions would experience life-limiting medical complications absent future treatments or cures. In the context of such conditions, the curative imperative does not seem to be in tension with the goal of promoting disability justice and anti-ableism.
However, beyond these kinds of severely life-limiting conditions, there is room for great variation in perspectives on the appropriate role of genetic interventions because there is great variation in the lived experiences of disability. Patients with cystic fibrosis and their families have experienced profound improvements in quality of life in recent years due to a variety of precision medicine interventions that have made it easier to manage most forms of the condition as a chronic disability.25 By contrast, the medication Spinraza has been the source of great controversy in the spinal muscular atrophy (SMA) community because of the variation in how the different types of SMA affect quality of life. For example, parents of children with SMA type 1 are much more likely than adults with type 2 or 3 to consider Spinraza as a necessary medical intervention, given that the treatment will prolong their children's lives beyond infancy and limited life expectancy. Conversely, adults with types 2 and 3 have a wider variation of perspectives on the treatment because Spinraza has the potential to simultaneously enhance or preserve their functional abilities and diminish their sense of disability identity.26 We would suggest that this variation in attitude toward Spinraza likely stems in part from variation in the structural conditions in which these individuals live with SMA types 2 and 3. A disability justice framework highlights how interlocking systemic oppressions like racism, sexism, heterosexism, classism, and transphobia all mediate a person's experience of disability and may produce wildly divergent lived experiences of it. These examples illustrate two important points. First, there is no one disability perspective, even within a single genetic diagnosis, on precision medicine interventions. Second, there are roles for precision medicine interventions beyond what would be called for by the simplistic curative imperative.
The choice to acquire a certain level of functionality or to pursue a treatment that maintains a person's current level of functionality is personal and not necessarily inconsistent with disability justice's aim to undermine ableist institutions and promote a high quality of life for people with disabilities. Yet these rationales for pursuing a treatment like Spinraza are distinct from the curative imperative because they involve using medical interventions to improve people's perceived quality of life while living with a disability. Understanding such rationales is crucial to undermining structural ableism in genetics and genomics because doing so helps expand the orientation of these disciplines beyond the curative imperative. Satisfying the requirements of recognition justice necessitates developing strategies for soliciting the perspectives of people with disabilities and incorporating them into the research and translational process in genetics and genomics. Further, promoting distributive justice requires instituting measures to make precision medicine treatments like Spinraza affordable so that the treatment is accessible to any patient who might benefit from it and who wants it. Equally importantly, distributive justice requires that patients and their families not be forced to make choices between being able to afford interventions like Spinraza and being able to pay for adaptive equipment and disability support services that also improve quality of life for people living with a disability. A range of both medical and nonmedical resources should be made available to disabled people as a matter of justice.
Adding yet another layer of complexity to promoting disability justice and anti-ableism in genetics and genomics is the reality that many disabling conditions can affect multiple body systems in different ways. Individuals with disabilities and those who care for them may welcome genetic intervention in some aspects of their conditions but not others. For example, in addition to congenital intellectual disability, Down syndrome is accompanied by congenital heart defects and is becoming increasingly associated with the development of Alzheimer's disease later in life. A person with Down syndrome or their family member may have very different perspectives on the appropriate role of genetic intervention in alleviating the negative impact of these different dimensions of the condition. A recent survey of family members of individuals with Down syndrome identified considerable variation in support for hypothetical gene therapies targeting these different dimensions. In particular, there was overwhelming support among participants for surgical interventions to correct the congenital heart defect associated with Down syndrome but only some support for prenatal interventions to correct the chromosomal abnormality that causes Down syndrome.27 A similar situation has arisen with respect to the drug vosoritide, newly approved by the U.S. Food and Drug Administration. Vosoritide uses genetic biotechnology to suppress some of the traits associated with achondroplastic dwarfism. Specifically, controversy abounds over whether such an intervention should be embraced by the dwarf community, given that it has been proven effective only at accelerating growth of the limbs and has not yet been shown to have any impact on other traits associated with the disability, such as sleep apnea or spinal stenosis.28
Here, again, are instances where there is a more nuanced role for precision medicine interventions beyond diagnosing and curing disability. In particular, treating comorbidities of developmental disabilities like Down syndrome or achondroplasia is consistent with promoting disability justice and challenging structural ableism because treatments can promote one's opportunity to achieve and maintain a high quality of life with that disability. In making this claim, we do not presume to know the priorities of every person living with Down syndrome or achondroplasia. Instead, we suggest that an anti-ableist precision medicine is one that recognizes the value of alleviating some negative aspects of living with a disability while rejecting the strict application of the standard view of disability and the curative imperative.
It is difficult, and from our perspective not advisable, to make universal judgments on what elements of particular disabling conditions should be treated, cured, or accommodated. Instead, it is important to develop methods and strategies for understanding what the priorities of specific disability communities are and for ensuring that the perspectives of community members are integrated into genetics and genomics research on specific disabling conditions as much as possible. Moreover, people with disabilities should be empowered to make individualized decisions about the appropriate role of precision medicine interventions in treating or curing their conditions. The role of the ELSI field in promoting this future of precision medicine is to help articulate what that looks like in different contexts. The next section proposes some preliminary priorities for ELSI moving forward.
Promoting Recognition Justice and Distributive Justice: Priorities for ELSI Scholarship
Helping to facilitate greater collaboration between genetics and genomics professionals and disability communities. We think that the ELSI community has an important role to play in fostering greater collaboration between genetics and genomics professionals and disability communities. Promoting such collaborations in clinical and research settings is particularly critical because doing so makes it more likely that future developments in genetics and genomics do not take place with only the standard view of disability in mind. Here, we present an example in which such collaborations might be productive.
A recently published set of guidelines for carrier screening produced by the American College of Medical Genetics and Genomics placed conditions causing intellectual impairment in the category of “profound” disability based on only one survey of “physicians, genetic counselors, and geneticists.”29 To our knowledge, members of disability communities were neither consulted on the design of the survey nor included in the sample of survey respondents.
The guidelines appear to categorize the severity of disabling conditions based on the extent to which a condition contributes to someone's deviation from what has sometimes been called “species-typical functioning,”30 which involves normative judgments about what constitutes individual health and well-being. Mildred Cho and colleagues have argued that the placement of intellectual disability in the “profound” category is more reflective of how highly educated professionals in clinical genetics value intellectual achievement than it is of how intellectual impairments limit quality of life, independent of ableist institutions that value scholastic achievement.31
Disabilities often do negatively affect quality of life, and there are many benefits to developing metrics to measure the severity of an individual's disabling conditions.32 Classifying the severity of disability can guide clinical decision-making and, in many cases, assists government agencies in determining the level of disability support services someone may need. However, the ACMG guidelines potentially reinforce structural ableism because the classifications of disability severity were based on the assessments of presumably able-bodied professionals who likely have varying degrees of knowledge about the lived experiences of disabling genetic conditions beyond what they may observe in the scope of their professional practice. ELSI research should assist in the development of methodologies that use lived experience as a factor in formulating these kinds of criteria, ensuring that normative judgments about a particular condition are based both on clinical expertise and on the challenges individuals confront on a daily basis.
Two of us, Kevin Mintz and Holly Tabor, are working on projects that seek to use the deliberative democratic methodology developed at Stanford University (where Mintz and Tabor work) to promote consensus of priorities for emerging research in genetics, genomics, and neuroscience with particular disability communities. This methodology solicits different perspectives from community members and medical professionals and then facilitates deliberation between these groups to identify areas of agreement and disagreement. It can also be used to identify disagreement within disability communities to promote constructive dialogue in light of divergent perspectives.33 It is not our purpose here to advocate for this particular method of community-engaged research, but our projects are examples of what engagement between disability communities and genetics and genomics might look like. The methodology being used in our projects is only one approach to community-engaged research, and, to our knowledge, only a handful of ELSI scholars currently conduct community-engaged research with disability communities. As a field, ELSI needs to do more to increase the number of projects focused on disability community engagement. Such efforts would promote both recognition justice and distributive justice by ensuring that the perspectives of disability communities are taken into account and by helping see to it that such criteria are applied in ways that give disability communities access to needed clinical care and disability support services.
Advocating for inclusive research design and disability accommodations and modifications in the research process. The current empirical ELSI scholarship on disability community engagement in precision medicine research, pioneered by Maya Sabatello and colleagues, suggests that people with disabilities recognize the importance of being included in general precision medicine research and also have concerns over insufficient accommodations to participate in this research. In the first national survey of the attitudes of people with disabilities, Sabatello and colleagues report overwhelming support for participation in the research design and implementation process. Notably, enthusiasm for such participation varied along racial, ethnic, and gender lines, speaking to how multiple marginalizations can shape one's attitudes toward the research process. The researchers also found that individuals were concerned about lack of accessible transportation and lack of physical accessibility in study locations, as well as inaccessible study procedures.34 These findings need to be explored and built upon in the context of research studies, with particular emphasis on how to design precision medicine research initiatives that are consistent with both recognition and distributive justice.
The Multi-Regional Clinical Trials Center's Accessibility by Design (AbD): A Toolkit for Inclusion of People with Disabilities in Clinical Research provides helpful guidance in promoting the accessibility of research processes to promote disability justice in this arena. It also provides examples of how to facilitate individualized accommodations and programmatic modifications into research procedures.35 ELSI scholars and practitioners should be actively involved in considering how best to leverage the toolkit and other resources to facilitate accessible study design in precision medicine. Equally importantly, however, they should work with individual research teams to promote recognition justice and distributive justice for disability communities. NIH grant proposals that require an ELSI component might specifically include justifications and strategies for including patients with disabilities and those who care for them in each stage of the research process. Critical here is ensuring that disability access is not strictly a matter of “checking off boxes” but, rather, a thoughtful, deliberative, and ongoing process to ensure that disability communities are fully incorporated into research that affects them.
Confronting the Complexities of Structural Ableism
We argue that challenging structural ableism in genetics and genomics requires developing a nuanced, multidimensional view of how different disabilities affect quality of life. Further, it requires reimagining how precision medicine can be used as a tool to improve someone's quality of life living with a disability instead of being aimed strictly at treating or curing all forms of disability. We suggest that recognition justice and distributive justice are useful frameworks for conceptualizing how to promote anti-ableism in these fields by giving voice to the perspectives and needs of disabled people, particularly those experiencing multiple marginalizations.
In practice, this requires developing robust methodologies and infrastructure to support collaborative relationships between genetics and genomics professionals and members of disability communities across clinical and research settings. The ELSI community can and should play a leading role in facilitating these relationships by clarifying the ethical issues at stake in different contexts and developing effective methodologies for meaningful collaborations. The NIH's recent efforts to acknowledge structural ableism provide an invaluable opportunity to take on the difficult task of conducting groundbreaking work in these areas. We consider this work difficult for two main reasons. Community-engaged research with any community comes with ethical challenges, some of which are reinforced by structural inequities. More specific to disability community research, however, is the added challenge of convincing professionals who have internalized the standard view of disability and the curative imperative that undermining ableism is worthwhile. In this domain, ELSI faces a complicated challenge. As a community that illuminates the human values at stake in genetics and genomics, we must confront that challenge with analytical rigor and cultural humility.
Acknowledgments and Disclaimer
Prior to August 1, 2024, Kevin Todd Mintz was funded by a T32 grant (5T32HG008953-09) from the National Human Genome Research Institute. The views expressed in this article are the authors’ and do not necessarily reflect the views of NHGRI, the National Institutes of Health, the U.S. Public Health Service, or any other federal agency. Mintz thanks the NHGRI for this financial support and acknowledges the invaluable assistance of Joanne Kalogeras, Nayeli Altamirano, Claire Woodward, and Trina Ta for their support in writing this essay. The authors thank the special report's guest editors as well as Meghan Halley for helpful comments on earlier versions of this essay.