Gene-editing tool raises thorny issues of difference and disease
Last month, researchers in Oregon broke new scientific ground when they used CRISPR/Cas-9 to genetically modify human embryos, a first in the United States. CRISPR/Cas-9 is a powerful tool that offers immense promise for treating and curing disease, and it has triggered both hope and hype in the biomedical field. However, the power of CRISPR/Cas-9 presents an ethical dilemma (and no, we are not talking about the designer baby debate): What counts as “disease,” who gets to decide, and what are the consequences of finding a cure?
In many cases, we can draw bright lines between health and disease. In mice, researchers have used CRISPR/Cas-9 to remove a mutation responsible for Duchenne muscular dystrophy, shrink tumors caused by a particular gene, and eliminate an HIV infection by targeting viral DNA. These uses of CRISPR/Cas-9 are not controversial, and offer hope to people who seek treatment for such conditions.
But theoretically, anything determined wholly or in part by genetics (such as hemophilia, blue eyes, cystic fibrosis, and some forms of deafness) could be treated or reversed with CRISPR/Cas-9. Many human traits vary along a spectrum, such as brain function and body type; what counts as “curable” in this case? Worse, what might we label as “diseased” or “abnormal” that is merely difference?
Genetic, cultural and linguistic diversity are rich human resources, and they can exist within conditions commonly understood to be “defective.” For one example, consider deafness. In young babies, more than 50 percent of deafness is genetic, and half of these cases come from mutations in two known genes. Researchers have already used CRISPR/Cas-9 interventions to correct age-related hearing loss in mice, and the treatment could one day be used in humans. When we understand deafness only as a genetic or sensory disadvantage, it joins a list of other perceived “defects” to repair via technology.
However, when we understand deafness from a cultural, social and linguistic perspective rather than solely a medical one, we run into larger questions about what exactly we seek to cure or eliminate.
Across human history, deaf people have developed a range of grammatically sophisticated sign language systems, as well as unique visual-spatial ways of interacting with each other and our world. Like indigenous communities and cultures that differ greatly from the powerful majority, deaf communities can give us all an irreplaceable view into human communication and connection — from the art of poetry in American Sign Language to the neurobiology and development of language. But their experience now risks being freshly pathologized as a genetic anomaly. Viewing hearing loss solely as a site for CRISPR intervention risks overlooking the fullness of the lives that deaf people lead and the insights they possess. The same could be said for many other forms of disability.
Ultimately, our discussions about which traits should be preserved or eliminated boil down to our cultural ideas about normalcy.
Normalcy is, in large part, a social construct. Homosexuality was once viewed as a pathological disease, and was listed in the Diagnostic and Statistical Manual of Mental Disorders for many years before being removed.
The neurodiversity movement now points to the strengths that individuals with autism bring to our world.
Normalcy also depends on your frame of reference: standards for normalcy would shift in a world designed to suit Olympians, cyborgs with super-enhanced bodies, or blind people. In H.G. Wells’ imagined “The Country of the Blind,” a sighted man becomes an object of curiosity and concern. The categories of normalcy and disability are ultimately unstable and ever-shifting.
Popular culture and language often paint disability only as a detriment, while normalcy becomes a cultural ideal. We do not pretend that within the structure of today’s society people with disabilities do not face huge disadvantages,
which require further attention to accessibility accommodations, nor do we claim that we should not seek cures and interventions for many existing conditions.
However, we argue that our culture should more thoughtfully engage with disability as a generative resource and not solely as a deficit. Each of us can stand to re-evaluate the snap judgments that we bring to biomedical intervention, particularly interventions as transformative as CRISPR/Cas-9: How are we valuing the perspectives that different embodiments bring to our world? Are we seeing these perspectives as humanity — or as pathology?