Disability and Ethical Frontiers in Genetics and Genomics Research


Justin Adler, BS and Jonathan Lo Tempio, PhD

Publish date

Disability and Ethical Frontiers in Genetics and Genomics Research
Topic(s): Disability Studies Genetics

Neglecting to include the needs of disabled people holds the potential to perpetuate discrimination against disabled communities as genetic technologies advance. In 2023, the National Academies of Sciences, Engineering, and Medicine (NASEM) convened a committee on the use of race, ancestry, and ethnicity as population descriptors in genomics research. This committee, supported by the National Institutes of Health, published a framework to this end. In their report titled “Using Population Descriptors in Genetics and Genomics Research,” the committee discusses the appropriate use of descriptors including race, ethnicity, and ancestry in genomics studies. In contrast to the committee’s thoughtful approach to consideration of when these social factors belong in genomics research, there is no mention of disability as an important, intersectional consideration within this field.

The NASEM report framed race as an arbitrary social construct that has long been misconstrued by researchers to convey genetic information. Despite there being no scientific basis for these associations, race and other descriptors, including nationality and religion, continue to be widely included in genomics research. A key conclusion of the committee is that the category “race” is inappropriate for use in six of the seven study types considered. Drawing conclusions from genetic data based on correlations with racial groupings holds the potential to exacerbate health disparities by attributing them to an individual’s race rather than to the societal inequities that an individual may face. Part of the rationale behind this position is that these correlative statistics are not necessarily causal. This is a general statement that likely applies to consideration of disability.

The absence of disability in NASEM’s remit and report on population descriptors is unfortunate given the long history of injustice toward people with disabilities. Many pioneers and luminaries of genetics and genomics research were eugenicists who developed models to group individuals into “normal” versus disabled categories. Eugenicists justified practices such as forced sterilization and institutionalization on the grounds that people with disabilities were inferior to the general population. To this day, overmedicalization of disability and feelings of otherness among disabled individuals persists despite one in four U.S. adults living with a disability.

If there is no guidance on the consideration of how disability and ability are evaluated in genomics studies, there will be the potential for a new, and more insidious eugenics. For instance, the use of polygenic risk scores for gene variants that correlate with disabilities could influence whether embryos are selected following in vitro fertilization or whether pregnancies are brought to term. Currently, an estimated sixty-seven percent of pregnancies with a positive test for fetal trisomy 21 (Down syndrome) are terminated in the United States. Emphasizing links between molecular genetics and human disability may lead to parents being nudged to select for children who are considered normal – whatever that means. Whereas a generation ago, it was commonplace for disabled children to be separated from their families and placed in institutions, with the implication that they are a burden on their parents, in coming years, these children could no longer be born at all if proper precautions are not taken. The societal view that people with disabilities are too much of a burden on loved ones is inherently an ableist perspective that fails to recognize disability as a key element of human diversity. If we instead embrace the disability community’s belief in interdependence, we can better advance genomics research without biasing our studies into narrow categories.

We must continue to reject relics of the eugenics era that overemphasize genetic differences among social categories of people, and the ways that we define disability are just as arbitrary as the ways that we view race in genomics research. As concerns over patient autonomy and consent in research have been raised, as well as how these concerns interact with racism and sexism in the medical system, the disability community has remained largely invisible. In this new era of genomics research, it is critical for the perspectives of disabled people to be elevated when investigating their genetics. Many disabilities are not the result of a single genetic alteration but develop from multifaceted interactions between genetic and environmental factors. For those that are monogenic, with further advances in genetic engineering, including the recently FDA-approved gene therapy for sickle cell disease, we are at a pivotal moment to consider care in the face of haste.

It is crucial for perspectives from people with disabilities to be included in the ethical use of gene editing technology and genomics research more broadly. This can be achieved by incorporating the principles of disability justice, including intersectionality and leadership of the most impacted, into scientific education and research. Most actionably, it would be good practice for sponsors of NASEM committees to include considerations of intersectionality in their requests to the National Academies. This way, important topics like descriptors or concepts pertinent to ancestry and descent will not be divorced from other concepts like ability. Furthermore, by gaining an appreciation for the diversity of values, experiences, prognoses, and preferences among people with disabilities, investigators and clinicians can make sure that treatments are tailored to not merely address perceived imperfections in our genetic code but to improve our medical system more holistically with patient-centered care.


University of Pennsylvania Professor Jonathan D. Moreno’s support on the drafting of this essay was critical to its present form. The authors also acknowledge Dr. Kristin Lindgren of Haverford College for sharing valuable disability studies perspectives with them.

Justin Adler, BS, is a Master of Bioethics student at the University of Pennsylvania and a research specialist at the Penn Image-Guided Interventions Lab.

Jonathan LoTempio, PhD, is a postdoctoral fellow in Ethical, Legal, and Social Implications of Genetics and Genomics at the University of Pennsylvania.

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