The Disability Paradox
Do you know about the disability paradox? It is integral to the argument against the perceived ‘correction’ of certain disabilities, so let’s start there. The disability paradox has two forms: the first is that people with disabilities tend to report that they have serious limitations placed on their daily living, have difficulty participating in social roles, and experience persistent discrimination; yet, these individuals rate their overall quality of life as good or excellent. The second form of this paradox is that the general public, physicians and other health care workers tend to rate disabled individuals’ quality of life much lower than the disabled person rates their quality of life themselves (Albrecht and Devlieger, 1999). Furthermore, such results are not explained by disabled persons’ denial of their disability or its consequences (Kelly, 1992, Kelly, 1996).
It is then likely the case that government discourse with disabled communities could serve to clarify which genetic disorders should be of more pressing concern for research and which, like deafness, are considered a disability due to their deviation from the norm but form rich subcultures important to the variation of society and genetic variation.
Sarah Katz, a pen name author for Discover and a congenitally deaf person, expresses her critical view towards the use of CRISPR to alter GJB2, GJB6, SLC26A4, and OTOF genes (Egilmez and Kalcioglu, 2016) saying:
“We consider ourselves to be part of a vibrant cultural and linguistic minority group with American Sign Language, Cued American English (via Cued Speech) and other forms of visual communication at its center.”
(Katz, 2020)
Ethical issues related to this application of gene editing
There is an abundance of evidence which points to ‘correcting’ congenital deafness in human embryos as an unethical practice. One example argument (applicable to somatic and germline modification) is the myriad of voices from the deaf community, like Katz, who proudly identify with their disability and would not want to see the death of a vibrant subculture; another is specific to germline research, and posits a higher-level argument against HGE because of the associated medical and ethical complexities. The majority [global] consensus is that neither science nor society are presently prepared for clinical germline genome editing, regardless of whether the treatment is considered an enhancement or a therapy.
In 2015 geneticist Jennifer Doudna, co-inventor of CRISPR-Cas9 as a technology, and her colleagues called for a global pause on any clinical applications of the biological tool in human embryos (Doudna, 2015). Her message was made to publicly acknowledge that experts require more time to consider the consequences and implications of such applications of this technology.
Unfortunately, the World Health Organization (WHO) and some governments failed to impose hard mechanisms to ensure that this warning would not be ignored; and in 2018, Chinese researcher He Jiankui thought to exploit this lack of formal regulation to become the first known scientist to experiment with human germline genome editing. The news of He’s research was met with “shock and outrage across the world of science,” (Haiming, 2018) for a number of reasons: one was due to the nature of germline editing (i.e. the potential risk for descendants of the twin female embryos to inherit altered genes with unknown consequences); another was his seemingly frivolous targeting of the CCR5 gene; and a final was his alleged deception of the twin’s parents.
In brief, these were only a few of He’s breaches to global conventions on the use of CRISPR-Cas9, which prompted China’s Ministry of Science and Technology to condemn his work and China’s National Health Commission to draft reactive regulations. One year later, the WHO convened “a multi-disciplinary Expert Advisory Committee on Human Genome Editing to examine the scientific, ethical, social and legal challenges associated with human genome editing (both somatic and germ cell),” which resulted in “clearer recommendations on appropriate governance mechanisms” (Baylis, 2019).
In September and October of 2019, a Russian molecular biologist also sought to disregard global advice and confirmed his intention to pursue heritable genome editing (like He), but declared that his focus would be the GJB2 gene to correct a mutation causing hereditary deafness – to which Tedros Ghebreyesus, the director general of the aforementioned WHO Expert Advisory Committee, issued a statement that included the acceptance of an interim recommendation urging “regulatory or ethics authorities to refrain from issuing approvals concerning requests for clinical applications for work that involves human germline genome editing” (Lindmeier, 2019).
In February of 2020, the committee met for the third and most recent time. One of the presenters that the committee heard from was Brian Watermeyer, a clinical psychologist and disabilities studies researcher for the University of Cape town, who is also a disabled persons’ rights advocate and has severely congenitally impaired vision. Watermeyer expressed that the committee’s drive to “cure” disabled persons could lead to potentially damaging “discourses of hope and denigration.” He continues, “Instead, the Committee should pursue inclusive, humane goals in regulating somatic genome editing, with clarity about what is possible, with discussion, inclusive at all stages of disabled people, couched in an awareness of real, functional lives lived by disabled persons, and which gives central place to economic questions of access and power. The discussions fostered by the Committee should at all stages be inclusive of disabled people” (WHO, 2020).
What implications does this have for New Zealand?
New Zealand should continue to look to these high-level conventions for general guidance, as there is an overwhelming amount of evidence that WHO experts on the global level are performing their due-diligence when it comes to building an inclusive and clear framework for practicing human genome editing. The Human Assisted Reproductive Technology (HART) Act of 2004 banned the implantation of genetically modified gametes and human embryos, thus ruling out a ‘cure’ for congenital deafness via CRISPR-Cas9 indefinitely. However, implementing and enforcing strict guidelines (i.e., employing hard mechanisms) for the practice of HGE falls squarely on the national government’s shoulders. Ideally the government would enact legislation to prevent any unethical use of CRISPR-Cas9 before it can occur. The unfortunate challenge is having the foresight to anticipate the effects of a new and complex technology with reasonable precision.
Thus, New Zealand’s best approach is to advance slowly and with extreme caution. Government must remain vigilant of the ongoing applications and research outcomes of CRISPR-Cas9 experiments and get feedback from experts pondering the impact this technology could have on society (literally and philosophically) if made clinically available.
Maria DaRocha 