Down syndrome is a common chromosomal abnormality caused by trisomy (an extra copy) of chromosome 21 and affecting 1 in 600 live births.[1] Individuals with Down syndrome (DS) suffer from cognitive impairments and face a higher risk of heart defects, hematopoietic diseases, and early-onset Alzheimer’s disease.[2] Potential treatments of DS have proven elusive thus far due to the number of genes affected by trisomy 21 and the phenotypic variety among the affected individuals.[3] These medical issues combined with a lack of treatment options have tragic consequences. Maternal serum screening, a relatively common procedure, can detect 90% of fetuses with DS by 11–13 weeks,[4] which has resulted in between 70% and 90% of these pregnancies being terminated.[5]
Though the abortion rate remains very high, people with DS are generally treated with respect and have access to many vocational and educational opportunities.[6] Moreover, despite these medical issues, individuals with DS generally have a high quality of life in Western societies. In the absence of genetic treatment or presumptive cures, significant efforts have been made in providing resources to assist DS individuals for functioning in society with their untreated disabilities, which have proven largely successful.
It is surely a paradox that contemporary society sees fit to terminate the majority of the DS population in utero while holding survivors in relatively positive regard. This article explores whether it is in the best interests of persons with trisomy 21 to pursue treatment, in light of this paradoxical and complex relationship. Particular areas of interest are whether improved physical health and intellectual capacity necessarily entail improved quality of life, and whether the best interests of current and future generations may conflict.
Research published in 2013 established, in principle, possible in vitro dosage compensation treatments to treat trisomy 21, that is, silencing of the extra copy of chromosome 21.[7] The strategy is analogous to X chromosome silencing in mammalian females by its use of the X-inactivation gene (XIST). Though this work is significant and could be a first step toward major therapeutic breakthroughs, it remains to be seen what actually will be feasible in the future. It would be premature to imagine the third copy of chromosome 21 being effectively “switched off” by an injection of XIST. And even if that were possible, many developmental events affected by the trisomy would have already occurred, such as a heart defect or the distinctive epicanthic folds. What appears to be more likely are new opportunities to research the particular cellular pathologies of trisomy 21 and thereby develop individual postnatal treatments for certain symptoms and comorbid conditions, such as the higher risk for leukemia found in people with DS.[8]
Regardless, many years of further research and testing remain before any kind of treatment might become available. And, until such progress is made, the physical side effects and risks of the treatment will remain unknown. However, the ethical ramifications of potential scenarios must be considered now—before treatment becomes available—so that a sound ethical understanding can inform the choices of therapy options.
In order to explore these future potentialities, the “treatment” referenced in this paper will indicate a hypothetical, relatively low-risk therapy that becomes readily available to the DS population,[9] and which addresses both the physical and intellectual handicaps implicated by the syndrome. Whether the treatment would entail one, all-inclusive XIST transgene regimen or a series of individual protocols will not be considered here, though that could become ethically relevant.[10] Future treatment options could potentially be administered early in embryonic development (such as in an in vitro fertilization setting), but this paper will only explore the issues of treating individuals who have already manifested symptoms of DS.
An important aspect of this hypothetical scenario is that most of the symptoms of DS are affected at some point during treatment, including both intellectual and physical components. If this is not the case, then treatment for DS is not being considered, but rather isolated cases of developmental delays, heart defects, Alzheimer’s disease, etc. This distinction of intent to treat Down syndrome proper is what makes community-level considerations relevant, as the design of the therapy carries with it certain social messages that impact more than just the individual patient in question. This holds true even if some of the treatments developed find application outside of the DS population (for example, other trisomies such as Patau syndrome or Edwards syndrome could be better understood by further XIST-based research). Therefore, the purpose of this article is to explore whether pursuing treatment for DS would be in the best interests of those who have the trisomy in light of potential community- level concerns and social messages. A thorough discussion of disability ethics, identity, and the goals of medicine is warranted before making definitive conclusions on the issue of treatment for DS. However, the limited scope of this paper does not permit the kind of investigation necessary to do those topics justice. Thus, the goal here is to discuss the kind of questions that potential treatment for DS brings to light, and submit this preliminary work for evaluation in the existing conversations on disability, identity, and medicine.
Perhaps the most obvious first question to address in determining the best interests of the DS population concerns “quality of life.” It is assumed that if the treatment does not improve the quality of life for individuals with DS then there is no legitimate rationale to support it. This assumption raises a significant issue regarding the notion of “quality of life.” Care must be taken both to not impose an external conception of quality of life onto persons with trisomy 21 without considering their opinions, and to counteract the current inconsistency in how a diagnosis of DS is discussed.
As previously mentioned, the conflict between the high abortion rate and celebration of living persons with DS represents seemingly contradictory views on quality of life. On one hand, the cultural message appears to be that a DS life is not worth giving birth to, while paradoxically holding that same DS life is worth supporting outside the womb. Because of the availability of prenatal screening and elective abortion, what was once considered something left up to fate—the birth of a child with a disability—is now discussed as if it were choice, a burden that the parents are bringing into the world.[11] As early as 1986, Stanley Hauerwas warned of the collateral damage which is done when campaigning for prenatal screening under the guise of a compassionate desire to limit suffering. How can one express a strong desire to see a disability disappear without doing so at the expense of the people who currently have that disability? Hauerwas cautioned that “disease descriptions and remedies are relative to a society’s values and needs”[12] and seemingly limited resources could be more the result of a “lack of moral will and imagination”[13] than actual scarcity.
If treatment is successful, individuals with Down syndrome stand to gain many new advantages for functioning in society. Intellectual capacity could increase and thereby open new job opportunities and more options for independent living. Reduced risk for hematopoietic disorders and Alzheimer’s disease is of course of great benefit. These are noble goals and ones that undoubtedly reflect the aspirations of many within the DS community. However, this may come at a great cost to the community and deprive treated individuals of previously available support structures. The special education, job training, and healthcare resources currently available were designed with the strengths and weaknesses of untreated Down syndrome in mind, and it might be unfeasible to continually adapt them to the changing circumstances of a “mid-treatment” DS community in transition. The DS population includes a wide spectrum of functional levels and abilities, and assessing disability is already sufficiently difficult given issues of cultural contextualization in addition to phenotypic and personal variability.[14] As this diverse group of individuals responds to treatment with different rates of progress, the resultant “mid-treatment” and “post-treatment” states could be even more complex and diversified. The worst case scenario is a sort of Balkanization, wherein a diverse but well-understood disability is superseded by a wider spectrum of previously unpredictable disability states, making access to resources and support more difficult for individuals with DS, despite whatever benefits treatments may bring.
This scenario of fracturing support structures and loss of common resources is, admittedly, subject to a number of variables and is unlikely to be unsalvageable. Special education experts and social workers are already well versed in assessing individual needs. However, the emotional and cultural consequences of a fracturing community are worthy of serious consideration. How would one evaluate what is in the best interests of a DS patient if he or she were to gain increased intellectual capacity and physical health, but simultaneously would lose access to valuable social and educational resources, and perhaps a sense of belonging? When a disability presents itself, the choice is whether “to change biology, psychology or society.”[15] Julian Savulescu argues that sometimes changing society may be the most logical option when addressing issues that involve existing people so that personal identity is not altered. However, he also sees treating an individual with DS who has more severe cognitive impairments as the potential replacement of a non-person with a new, unimpaired person.[16] Savulescu’s notion of procreative beneficence calls for a rational consideration of the “benefits and risks, the opportunity costs and the context” and calls for us to “make an active choice which reason supports.”[17] For him, such a deliberation will cause us “to select the best children, those with the least disabilities.”[18] While raising important questions of the preservation personal identity at the expense of changing society, the view of personhood suggested is more malleable than a Christian perspective can allow.[19]
However, sound theology does not automatically answer existential anxiety about a sense of identity. Individuals with Down syndrome benefit greatly from interaction with peers of similar functioning level, and separation from their community can have serious effects on their wellbeing.[20] Might the replacement of a common sense of identity within the DS community with progressively splintering subgroups erode important emotional support structures for individuals with DS? The untreated DS population has also produced a number of outstanding role models for individuals with various disabilities to look up to, and this valuable position could be challenged by a new emphasis on seeking treatment as the appropriate end for people who have DS. This must be carefully nuanced, however. There is no shame in seeking therapeutic interventions, and taking reasonable steps to avoid leukemia is certainly prudent healthcare. But treatment that specifically targets Down syndrome as a collective entity carries with it important social messages.
Furthermore, the notion of treatment being able to improve the capabilities of the affected individuals may place a much larger burden for success in societal functioning than the treatment can actually provide. Regardless of the accuracy and realism of the information presented by medical personnel or researchers, an expectation may develop that accommodations to mid-treatment or post-treatment individuals are no longer necessary. This could lead to unreasonably high standards in the workforce and the education system that outpace the actual improvements experienced by patients. Even if the assumption is granted that the treatment will become predictable over time and the functioning level of these theoretical subpopulations will stabilize—and furthermore that society learns how to support mid-treatment and post-treatment individuals—a period of instability and readjustment may leave a lasting de-incentive to work with individuals who have disabilities which are eligible for such therapies. Disability advocacy groups have had a profound impact on the United States, but not without obstacles and some mixed success.[21] The Americans with Disabilities Act is a significant accomplishment for protecting opportunities for persons with Down syndrome, but future interpretation of certain key phrases in the law could be unfavorable. For example, accommodating any significant changes in a mid-treatment state could constitute an “undue hardship” for an employer. The ADA protects the disability status of an individual regardless of the mitigating effect of any “learned behavioral and adaptive neurological modifications.”[22] Is it conceivable given these developments that future trisomy therapy options may be redefined as too radical to merit such protection?
Within a perspective that desires to avoid elective abortion, a potential concern develops if the presence of untreated DS in the population is greatly diminished. If pursuing treatment remains cheaper and more accessible than supporting a child with untreated DS, then one can expect as a reasonable consequence that there will be fewer people living with untreated DS. In addition, if abortion is also cheaper and more accessible than treatment, one can anticipate even fewer people with Down syndrome being present in the population. Such realities may lead an expectant mother considering abortion for her child with DS to believe there are limited opportunities for people with untreated DS to live fulfilling lives, due to the absence of such examples, thus creating a vicious cycle of more abortions and fewer persons with Down syndrome.
Lastly, the DS population may have an advantage in that most of the individuals with the syndrome are easily recognizable by their physical appearance. While this also enables quicker discriminatory judgments, this has the unexpected effect of potentially benefitting the DS community. So long as a positive public perception of DS individuals exists, their recognizable appearance can elicit a quicker response of affording extra patience and courtesy to the affected individuals. This is an advantage that people with other disabilities—for example, people on the autism spectrum—generally do not have. Should treatment for trisomy 21 become a reality, physical features will already be determined despite whatever malleable aspects are improved. This could turn the recognizable appearance into a liability, whereby a pursuit of additional opportunities and integration is hampered by a physically distinctive post-treatment state. The potential benefit of cosmetic surgery for people with DS was briefly but intensely debated in the 1980s, and such arguments may make an unwelcome and dehumanizing return.[23]
The advantages that individuals with DS might gain from the treatment, however, are very significant. Though a rocky transition period may result in special education schools and job programs losing some effectiveness, improved functioning levels of DS individuals could compensate for diminishing external support. An equally resilient “post-treatment” DS community could emerge as well to fill any gaps that have been left behind by obsolete support structures. Furthermore, the future individuals affected by DS must be considered as an issue of intergenerational justice.[24] There is no guarantee that the generally favorable perception and level of accommodation that currently exists will continue, as that depends on cultural, social, and legal factors that cannot be controlled. The situation faced by future generations of DS individuals may be inhospitable and unaccommodating, and securing therapeutic options may become necessary for their functioning in society. Essentially, the current generation of people with DS may have a much more favorable position from which to weigh its options regarding treatment than future generations, as the two scenarios may be vastly different.
In summary, there is reason for concern regarding the loss of current opportunities during “mid-treatment” states, a fragmentation of “subpopulations” that respond to therapy in different ways, and exaggerated expectations from society for “post-treatment” persons with DS. Perhaps it would not be in the best interests of the current generation of people with DS to seek treatment for their trisomy, given the inferior quality of life that could result. However, future generations of persons with trisomy 21 cannot depend on the current advantages that are open to the DS population, and so it is in their best interest to have treatment options available. Thus, pursuing the best interests of future generations of people with DS may fall to the current generation in seeking out treatment options now, so they remain available in the future when the need could be greater.
In order to synthesize these two goals and serve the entire DS community— current and future—special precautions should be taken. For example, safeguards that deserve further thought are legal protections for persons undergoing treatment, supportive measures not being conditioned on receipt of treatment, and educating the public to avoid overzealous expectations. Regardless, it is still far too early to tell what promise XIST-based research holds or what therapies may be available in the future for people with trisomy 21, or what insights and precautions may come from further work in disability ethics. Nevertheless, before treatments become available, it is necessary to evaluate what social messages such treatment would convey and how the concerns of the DS community can be incorporated into therapeutic decision-making, so that people with Down syndrome may pursue their best interests with adequate protection and respect for their dignity.
[1] Jun Jiang et al., “Translation Dosage Compensation to Trisomy 21,” Nature 500, no. 7462 (2013): 296.
[2] Ibid.
[3] While technical distinctions may exist in certain professional contexts, “treatment” and “therapy” will be used interchangeably.
[4] Agnes Bankier and David Cram, “Genetic Testing, an Informed Choice,” in The Sorting Society: The Ethics of Genetic Screening and Therapy, ed. Loane Skene and Janna Thompson (New York: Cambridge University Press, 2008), 8–9.
[5] Amos Young, Theology and Down Syndrome: Reimagining Disability in Late Modernity (Waco, TX: Baylor University Press, 2007), 64.
[6] Ibid., 67.
[7] Jiang et al., “Translational Dosage Compensation to Trisomy 21,” 296.
[8] Ed Yong, “Shutting Down the Extra Chromosome in Down’s Syndrome Cells,” National Geographic, July 17, 2013, http://phenomena.nationalgeographic.com/2013/07/17/how-to-shut-down-the-extra-chromosome-in-downs-syndrome/ (accessed June 14, 2017).
[9] A treatment only accessible to a small percentage of the population with DS would still warrant ethical consideration, but would not raise the specific questions this paper aims to address.
[10] For example, if a treatment is started that increases the intellectual abilities of a DS patient who develops the capacity to offer informed consent without a proxy as a result of the treatment, and subsequently declines consent for the remainder of the treatment regimen.
[11] Michael J. Sandel, The Case Against Perfection: Ethics in the Age of Genetic Engineering (Cambridge, MA: Belknap Press, 2007), 88–89.
[12] Stanley Hauerwas, Suffering Presence: Theological Reflections on Medicine, the Mentally Handicapped, and the Church (Notre Dame, IN: University of Notre Dame Press, 1986), 161.
[13] Ibid., 163.
[14] Paula Sotnik and Mary Ann Jezewski, “Culture and the Disability Services,” in Culture and Disability: Providing Culturally Competent Services, ed. John Stone (Thousand Oaks, CA: Sage Publications, 2005), 28–35.
[15] Julian Savulescu, “Procreative Beneficence: Reasons to Not Have Disabled Children,” in The Sorting Society, ed. Loane Skene and Janna Thompson (New York: Cambridge University Press, 2008), 61–62.
[16] Ibid.
[17] Ibid., 66.
[18] Ibid.
[19] John Kilner, for instance, has rebutted misunderstandings that the imago Dei is lost or damaged in persons with disabilities, and challenged the belief that changes to any particular attributes or functional level could threaten the status of human dignity for an individual. John Kilner, Dignity and Destiny (Grand Rapids: Eerdmans, 2015), 18–21, 101, 327–329.
[20] Dennis McGuire and Brian Chicoine, Mental Wellness in Adults with Down Syndrome: A Guide to Emotional and Behavioral Strengths and Challenges (Bethesda, MA: Woodbine House, 2006), 35–36.
[21] Jacqueline Vaughn Switzer, Disabled Rights: American Disability Policy and the Fight for Equality (Washington, D.C.: Georgetown University Press, 2003), 70–74.
[22] Americans with Disabilities Act of 1990, Pub. L. 101–336, 104 Stat. 328, 108th Congress, 2nd session (26 July 1990), https://www.ada.gov/pubs/adastatute08.htm (accessed June 14, 2017).
[23] Yong, Theology and Down Syndrome, 67-68.
[24] Janna Thompson, “Genetic Technology and Intergenerational Justice,” in The Sorting Society, ed. Loane Skene and Janna Thompson (New York: Cambridge University Press, 2008), 85–87.
Tim Mroweic, “Ethical Considerations in Potential Treatment for Down Syndrome,” Dignitas 24, no. 3 (2017): 4–7.
