The concept of editing and modifying genes has always been a subject of trepidation and consternation. Genes are organized units of heredity, sequenced within DNA, that converge to yield the vast variety of traits and characteristics that make you, you; the pigments that give your eyes that lovely blue, hazel, or brown color, the keratin that gives your hair its bouncy springiness or its conventional straightness, and even the light-sensitive cells in the retina that allow you to pick up certain wavelengths and see arrays of color, are all dictated by the multitude of genes contained in your DNA. However, for some, our genes also dictate our predisposition for certain disabilities and diseases. Gene therapies such as CRISPR/Cas9 have therefore been projected as useful tools for targeting these diseases and eradicating their expressive and heritable nature. One might be inclined to ask where does the controversy subsist in gene editing when the benefits are so clearly palpable? How could preventing diseases be bad? The answer lies in the fact that gene editing and therapies are new mechanisms that controversially hold the potential to eliminate practices and bodies of difference and diversity; differences and diversities that individuals have spent years fighting to be accepted and welcomed into society.
Genome editing is a collection of advanced technologies that give scientists the ability to change an organism’s DNA; these tools allow genetic material to be added, removed, or altered at sites in the genome. Although several approaches to genome editing have been developed, the more notable and recent gene editing tool is known as CRISPR-Cas9 which stands for Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated protein 9. CRISPR-Cas9 was tailored from a naturally occurring gene editing system in bacteria. When dealing with invading viruses, bacteria capture pieces of DNA from the virus and use those DNA pieces to create DNA segments called CRISPR arrays. These arrays then help the bacteria to “remember” the virus so that if the same virus should happen to attack the bacteria again, the bacteria can create a RNA segment from the CRISPR array to produce Cas9 or a similar protein to cut the DNA apart, thereby deactivating the virus [1].
While gene editing itself isn’t new to the research world, CRISPR remains revolutionary because of its exacting precision and accuracy. In 2011, Jennifer Doudna of the University of California Berkeley and Emmanuelle Charpentier of Umea University in Sweden were working together to dissect the nature of the CRISPR/Cas9 system in bacteria. The scientists discovered that they could feed the Cas9 protein artificial RNA, and the enzyme would accordingly search for anything that held the same genetic code and start cutting it up. In 2012, Doudna Charpentier, and Martin Jinek demonstrated that they could use this CRISPR/Cas9 system to cut up any section along a genome that they desired. Since then, more genetic scientists and researchers have plowed into the field of genome modification therapies, raising the number of published articles on the subject between 2011 and 2018 up by over 170% [2]. In 2013, scientist Feng Zhang and his research team were the first to successfully replicate the CRISPR-Cas9 system for genome editing in eukaryotic cells cultured from mice. Then in November 2018, Chinese biophysicist, He Jiankui, revealed that he had used the CRISPR genome editing technology to modify the genomes of twin baby embryos to make them resistant to HIV infection [3]. Since Jiankui’s landmark research, scientists, parents, policymakers, and activists alike have been contemplating both the realities and indications of genome editing research in society. Only this past month, Russian biologist Denis Rebrikov revealed that he intended to publish his experiments on using CRISPR/Cas9 to genetically modify eggs in order to analyze how to allow some deaf couples to give birth to children without genetic mutations that causes hearing-loss [4]. With the capacity to edit out genetic non-fatal diseases such as hearing loss within grasp, discussions concerning the benefits and disadvantages to gene editing have become more prevalent and relevant to various disabled populations in modern society; particularly the deaf community. Although Rebrikov and several potential parents of deaf children might argue that using CRISPR technologies to modify hereditary disabilities like deafness could have beneficial implications for the deaf community and will provide new possibilities for the future generation deaf-prone children, the criticisms and realities of researchers and disability activists alike demonstrate the controversial nature of gene therapies within the deaf and greater disabled community.
Whereas Rebrikov’s research promises new possibilities for individuals and couples with genetically based deafness, the innocuous nature of hearing loss and its identification as a “non-life threatening” condition are at the root of common researchers’ disapprovals. At a hearing at the Russian Academy of Sciences’s (RAS’s) Institute of Philosophy, Rebrikov stressed that his motivations for his CRISPR/Cas9 research has been to help people, stating, “When I see a new technology come forward, I want to see how it works and how I can improve it. I am doing research at the speed that natural biological factors allow” [5]. Yet Rebrikov’s work has garnered much criticism from genetic scholars and scientists as they’ve reproached his zealousness to conduct research within an unregulated environment and on “deafness itself”. Jennifer Doudna, one of the first researchers to recognize and assemble the CRISP/Cas9 technology disagreed with Rebrikov’s research, claiming it was “recklessly opportunistic” and “damages the credibility of a technology that is intended to help, not harm” [4]. Similarly, St. George University professor in Cancer Genetics, Shirley Hodgson, remarked on Rebrikov’s choice to target deafness, finding it “highly concerning” since “preventing hereditary deafness is not life threatening” and therefore falls into the realm of pre-natal diagnoses that “would not require CRISPR techniques.”[6] Julian Savulesco, another bioethicist agreed with Professor Hodgson, remarking “The first human trials should start with embryos or infants with nothing to lose, with fatal conditions…You should not be starting with an embryo which stands to lead a pretty normal life” [6]. It is clear that although many critics of Rebrikov’s project don’t criticize CRISPR as a technology itself, many find the tool ill-suited for non-fatal disease purposes and agree that without the proper guidelines/protocols in place, Rebrikov’s work is assured to create more harm than good.
In the case the attitudes of many parents and couples contemplating gene editing to prevent heritable deafness, the use of the CRISPR tool remains divided and undecided. In the case of a young deaf couple in Russia who are potential participants in Rebrikov’s study, the tangibility of the gene therapy has left them largely ambivalent towards its necessity considering alternative options. In this case, both partners are carriers of a genetic mutation known as 35delG which is one of the most common genetic causes of hearing loss [7]. In an interview, the woman who doesn’t want to be identified past her patronymic, Yevgenievna, explains, “We were amazed by the new technology. It’s like a miracle that you can have a child who has hearing when you cannot hear, and we were impressed by this wonderous possibility…[but] many [hearing specialists] told me that it’s better to have a deaf child and an implant rather than a genetically modified baby” [7]. While the couple’s excitement at the possibilities awaiting their future child in the realm of hearing, their enthusiasm is also tainted by the concerns and the social-pressures from hearing specialists who highly encourage the couple avoid gene modification as a treatment source. The accessibility of “implants” and other hearing devices raise questions about the need for the CRISPR technology. But Yevgenievna and her partner aren’t the only couple looking into the possibilities and promise of Rebrikov’s research. Since coming out with his research, Rebrikov has identified five prospective couples in Western Siberia who are also all carriers of the 35delG mutation. These potential participants are not only willing but excited at the dawning potential of Rebrikov’s research, and the implications it has for their future children [8]. Unfortunately, for the Western Siberia couples, there are likely other factors at play including “cultural attitudes towards deafness and disability” that could be playing a role in guiding their decisions [8]. The contrast between the hesitancy of the Russian couple and the eagerness of Western Siberian couples when it comes to using CRISPR to target deafness demonstrates the complexity of the CRISPR discussion and its value within the deaf community. Questions over accessibility come into play when considering the benefits and disadvantages of CRISPR editing on heritable deafness: “How do different societies interact with disabilities? Is there access to alternatives? And if there are, what implications do these alternatives have for the quality of life of future deaf-prone children?”.
Yet, as individuals who live with the experience of deafness in their communities and societies begin to seek out CRISPR as a tool to provide their children with a different “quality of life”, efforts to discourage and discard gene editing therapies in the deaf community become evidently more divisive. Although the five Siberian couples aren’t easily faced with an alternative resource if they want their biological children to be born with the ability to hear, activists and individuals in the disabled community worry about the research’s implications for deaf culture and its impacts on the deaf community. Emily Beitiks, associate director of the Paul Longmore Institute on Disability at San Francisco, and the daughter of a woman with disabilities, encourages scientists to recognize the negative impacts that gene editing can have for the disabled community. In an article titled, ‘5 Reasons Why We Need People with Disabilities in The CRISPR Debates’, Beitiks notes the connotation of gene editing within the disabled community, “[Gene Editing] is selling disability as tragic…Before we even develop the technology, we develop the story: people with disabilities are living a sad tragic existence, and only through progress in the genetic sciences can we spare their suffering in future people” [9]. Beitiks continues to note the effect that gene editing tools like CRISPR/Cas9 have on the fight for disability rights today, as she explains, “We continue to invest millions of dollars on anything that might help us eliminate disability. Meanwhile people with disabilities struggle to implement things to make our society more accessible right now, as these social changes are always framed as ‘too costly'' [9]. While passionate in her concerns for CRISPR/Cas9 studies, Beitiks isn’t alone in her skepticism. In an interview on the plan to use CRISPR to prevent deafness, Jackie Leach Scully, a disability rights scholar, remarks on the parallels being drawn between Rebrikov’s research and Jiankui’s success in HIV prevention on embryos. Scully notes that the shift from HIV to deafness hides the fact that the two are very different human conditions: “The shift implies that HIV infection and deafness are similar enough to be treated similarly; I’m concerned that this will reinforce the idea that deafness is as life-limiting—as ‘serious’—as untreated HIV infection” [10]. Scully goes on further to note the implications this work “could undo a lot of the progress that’s been made in recent years in terms of inclusion and acceptance of deaf people in society as a whole” [10]. The trepidations the various scholars and activists within the disabled community highlight the need to balance the use of CRISPR as an beneficial tool yet draw a line to ensure it is not the final solution. Legitimizing the concerns of the disabled community means contemplating how society can continue to promote accessibility for people with disabilities without trivializing such efforts in the face of CRISPR’s potential and soon documented success.
The multitude of positions both supporting and decrying the nature of CRISPR/Cas9 editing in context with heritable disabilities such as deafness, raises questions regarding CRISPR legitimacy and necessity within the deaf and disabled community: How do we accommodate the conflicting desires between parents and disabled communities when it comes to providing an “improved life” for future generations? Whose argument bares greater weight and value in society and does a compromise exist within such disagreements? Finally, if the argument is not about using CRISPR as a gene editing tool to target hereditary diseases, but more about the nature of those diseases, where is the line between disease and disability drawn? When it comes to addressing these questions on a systemic, or even international policy level, it’s important that visibility is present on all sides; from the parents, the scientists, and the activists alike as the implications of this research affect all contributors to this conversation. Any form of resolution to these questions in the form of a policy mandate, or regulation, must strike a balance between recognizing those seeking the human right and privilege to hear and the importance of preserving and legitimizing deaf culture in society.