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118 Harvard Law Review 2770
June, 2005
Note
REGULATING PREIMPLANTATION GENETIC DIAGNOSIS: THE PATHOLOGIZATION PROBLEM
For decades--and especially since the successful cloning of Dolly the sheep in 1997 --the potential application
of new genetic technologies has inspired excitement, awe, and fear. One such technology is already in use worldwide: preimplantation genetic diagnosis (PGD). Through PGD, embryos produced via in vitro fertilization (IVF)
undergo genetic screening prior to their implantation into a woman's uterus in order to inform parental choice about
which embryos to implant. PGD is a bridge technology; it adds advances in genetic understanding to accepted and
widely used IVF techniques in order to accomplish the familiar goal of prenatal screening. It will likely also act as a
gateway to other, less familiar technologies, such as preimplantation genetic engineering. An examination of the
ethical and legal issues surrounding PGD, therefore, can offer insight into future technologies as well.
I. PGD: What Is It and How Is It Regulated?
A. The Process
PGD is the latest addition to a host of familiar prenatal screening techniques. Traditionally, prenatal genetic
screenings take place after a woman is already pregnant, either through chorionic villus sampling (CVS), a technique in which a small piece of placental tissue is removed early in the pregnancy for genetic testing and chromosomal analysis, or through amniocentesis, in which amniotic fluid is removed during the second trimester and used
for analysis. A woman is thus faced with the choice whether to terminate her pregnancy based on the test results.
PGD uses the same sort of genetic tests, but does so significantly earlier, before the embryo is implanted in a woman's uterus. Based on PGD test results, a woman must decide which embryos to implant, rather than whether to terminate a fetus.
B. The Regulation
Regulation of PGD can be understood as involving choices along two axes: who regulates and under what normative framework. Each combination of answers to these questions will produce a unique regulatory model. Although this section does not explore the details of every possible combination, it discusses the general implications of different choices along each axis.
1. Who Should Regulate?--PGD regulation may occur at the governmental, medical professional, and individual levels.
Governmental regulation is unique because it is the only level at which traditional legal control is possible. Several methods of government regulation are possible. Direct regulation, through outright bans, allowances,
or licensing schemes, is the most intuitive. The United States has not enacted national PGD regulation, but several
foreign countries have. The United Kingdom has established the Human Fertilisation and Embryology Authority,
which licenses PGD clinics and approves PGD diagnoses as they are developed. Germany, by contrast, has effectively banned PGD through its Embryo Protection Act, which prohibits the creation of embryos for any reason other
than realizing a pregnancy. Additionally, some U.S. states have passed laws that arguably apply to PGD. Out of ten
states found to have these laws, four states specifically allow PGD, five states appear to prohibit PGD unless it is
“shown to be beneficial or risk-free to the embryo,” and, in one state, if PGD is considered “research,” the resulting
embryo cannot be implanted.
The government could also regulate indirectly, through its control of research or insurance funding. It could, for
example, refuse to fund the development of genetic screening tests that it deems unacceptable. Or it could refuse to
pay for such tests through Medicaid. Neither type of regulation would be absolute, however. Each would simply
push funding for certain PGD screenings into the private sector.
The ability of the U.S. government to regulate PGD is likely limited by American legal conceptions of reproductive liberties. In Lifchez v. Hartigan, a federal district court held that an Illinois law that could arguably prohibit
PGD was unconstitutional based on reproductive privacy concerns. The court held the statute unconstitutional not
only for vagueness, but also “because it impermissibly restrict[ed] a woman's fundamental right of privacy, in particular, her right to make reproductive choices free of governmental interference with those choices.” After discussing the development of reproductive privacy rights, the court examined embryo transfer, a technique meant to help
infertile couples conceive, which would be prohibited under the Illinois statute. The court reasoned that “there must
be included within that cluster [of reproductive rights] the right to submit to a medical procedure that may bring
about, rather than prevent, pregnancy.” Next, focusing on CVS as subject to the statute, the court stated that “[t]he
cluster of constitutional choices that includes the right to abort a fetus within the first trimester must also include the
right to submit to a procedure designed to give information about that fetus [that] can then lead to a decision to
abort.” PGD, like embryo transfer, is a measure to “bring about . . . pregnancy” and if CVS, a procedure “designed
to give information . . . [that] can then lead to a decision to abort,” is protected, then PGD, a procedure designed to
give information that can lead to a decision to bring about pregnancy, is likely protected as well under the court's
reasoning. Lifchez thus exemplifies one legal obstacle to government regulation of PGD and suggests that government intervention (at least in the United States) may not be the most effective method for regulating the field.
Governmental regulation may face political obstacles as well. For instance, the government would risk the
charge of denying adequate health care coverage to underprivileged could-be mothers if it were to deny insurance
coverage for PGD once it becomes a more established technique. Moreover, denial of access to PGD would deny
poor women the opportunity to have children as healthy as those of other mothers.
Regulation of PGD could also take place on the medical professional level, through professional societies, clinics, or practitioners. Each body would reflect a different set of values: uniform professional values, community values, and personal values, respectively. Although such regulation would not have the force of law, it would still limit
PGD decisionmaking: if a doctor is unwilling to test the embryo for certain traits or unwilling to let parents select
based on certain traits, the procedure is effectively prohibited to that couple.
Clinics and practitioners may implement ethical regulations either by restricting the procedures offered or by
shaping the presentation of information to patients. If a clinic chooses not to offer a certain screening, parents will
simply not have access to it. A practitioner may regulate more subtly by molding parents' attitudes through the
presentation of information. Even if a procedure is technically available, a practitioner could strongly discourage its
use or not inform parents about it unless asked. A practitioner might also influence parental decisionmaking even
more indirectly by carefully choosing the language in which she describes certain conditions. Just like governmental
regulation, medical professional regulation may also face obstacles to implementation. By consciously limiting patients' options and access to information, for instance, practitioners infringe on patient autonomy, the maintenance of
which is a core value in medical practice.
Finally, PGD may be regulated at the individual level, through personal ethics and choice. Parents have at least
two PGD choices: which genetic tests to undergo and which embryos to implant. Parents' personal beliefs will inform their decisions at each step. While this regulatory level is the most respectful of parental rights and autonomy,
it also has the most difficulty ensuring adequate consideration of ethical implications and medical realities. Because
individual choice is an internal calculation, there is no way to ensure the consideration of certain factors that one
may deem ethically essential, such as the social implications of that choice. If one is concerned about the detrimental
aggregate effects of individual decisionmaking, a “higher” level of regulation may be necessary.
Although individual regulation would take place at a personal level, it could still have far-reaching social effects. A lack of regulation at the governmental or medical professional level might signal that PGD is acceptable in
a general sense. In addition, even without state power, individuals possess many tools with which to influence others. Consider, for example, the abortion regime in the United States, in which the lack of pervasive government
regulation is considered by some a signal of acceptance, and which has sparked countless debates, protests, and even
violence in attempts to influence the decisions of others. A permissive PGD regime may spark similar reactions.
II. The Pathologization Problem
In developing normative models for PGD regulation, scholars have underappreciated the social harms that result
from the pathologization of traits and conditions. A major effect of the therapeutic/nontherapeutic divide is the labeling of certain traits as “healthy” or “diseased,” “normal” or “abnormal.” Not only do such labels reflect regulators' social attitudes, they also ossify such social attitudes under the guise of medicine, ethics, and law, often in the
midst of social movements denying the very applicability of these labels. The therapeutic/nontherapeutic line dictates the traits on which parents may base implantation decisions as well as the form that those decisions may take.
For example, parents would be able to screen for Tay-Sachs, a clear example of a “disease” trait, but could only
choose not to implant affected embryos, as this choice is the only therapeutic choice available. Although uncontroversial in this case, the decisional asymmetry becomes more troublesome in the case studies presented below.
A. The Pathologization Problem as a Distinct Critique
The pathologization problem is not simply a restatement of the traditional disability-rights critique of
PGD. This traditional formulation criticizes PGD because of
the message of rejection that it sends to people with disabilities. It is feared that [PGD] will lead to
heightened intolerance of disability as forces are marshaled to eliminate those embryos and fetuses with disabilities rather than to develop a society in which the disabled can live as welcomed partners.
Critics fear that if parents use PGD to avoid having disabled children, the disabled community as a whole will
be harmed, both because of the consistent choice by parents not to have children like those who are living with disabilities and because of the propagation of the view that a disabled life is not a life worth living. For example, if parents regularly choose not to implant embryos diagnosed with a certain disability, such as Down syndrome, these
choices send a negative message to people with Down syndrome and their parents--a message that they never should
have been born at all.
The pathologization problem is different. It does not focus on parental choice, but rather on the official labeling
of “disease” and “nondisease” in the therapeutic/nontherapeutic normative framework and the harm that results from
that labeling. While the disability-rights critique depends on individual action and choice, resting on the assumption
that parents will choose not to have disabled children, the pathologization critique depends on the contours of the
regulatory framework, regardless of parental choice. While the traditional disability-rights model assumes the “disability” label, the pathologization problem is a consequence of regulatory labeling--of naming a trait “diseased” or
“nondiseased.” For example, if PGD were to allow selection against embryos diagnosed with Down syndrome because Down syndrome is a “disease” and selection against it is “therapeutic,” pathologization harms would result
simply from this official labeling, regardless of what parents actually choose to do. The label would reinforce negative social attitudes toward Down syndrome and people affected by it through official sanction of the view that this
condition is a pathology. Pathologization harms are not only social (that is, affecting and ossifying social attitudes),
but are practical as well, affecting the availability of PGD to parents who wish to make choices that conflict with
these ossified social attitudes. Moreover, labeling a trait a “disease” affects the allocation of limited resources. A
“disease” label suggests that resources should be directed toward finding a cure; a nondisease label, however, shifts
the focus from cure to accommodation--if a condition is simply a normal variant, acceptance, not treatment, is needed.
B. Case Study 1: Deafness
In 1996 and again in 2002, Sharon Duchesneau and Candy McCullough, a lesbian couple living in Maryland,
both of whom are deaf, hoped to have a deaf child--a child “whom they felt they could guide and nurture with more
understanding than a child with normal hearing.” Both times, they maximized their chances by using donor sperm
from a friend with five generations of deafness in his family. Both times, the couple succeeded; their children were
born deaf.
It is only a small step from selective sperm donation to PGD. PGD in this case could have ensured Duchesneau
and McCullough a deaf child in the same way it could ensure nondeaf parents a nondeaf child. Under the therapeutic/nontherapeutic model, however, Duchesneau and McCullough would not have the option of making this choice.
Deafness is overwhelmingly considered a “disability” in American society. A decision to use PGD to screen out
deafness would therefore be therapeutic; a decision to screen in deafness would not.
Some readers may be troubled by Duchesneau and McCullough's choice to have deaf children. This uneasiness
likely results from the assumption that deafness is a disability, or a condition that makes one's life worse. But to
Duchesneau and McCullough, deafness is simply “a cultural difference”; they “feel whole as deaf people.” Deafness is not a disabling trait; rather, it is a trait that defines their community. For them, deafness is not infused with a
value judgment. Like race, for example, it defines a rich and thriving community whose members' lives may be
more difficult in some respects, yet it certainly does not make those affected “diseased” or their lives not worth living. It is simply a variation on the cultural majority.
Key here is the concept of the social construction of disability and the deaf community's mobilization and response to society's traditional labeling of it. Under the social construction proposition, even “[i]f some portion of
the difficulty of disability stems from the biological limitations, the majority [of the difficulty] does not and is in fact
socially constructed.” Disability, therefore, results primarily from society's unwillingness to accept and accommodate certain physical differences. A study of a late-nineteenth-century Martha's Vineyard community, in which many
residents were deaf and all residents spoke sign language, revealed that deafness was no longer a primary identifying
characteristic and ceased to inhibit social or work life--deafness was no longer perceived as a disability by nondeaf
residents, and deaf residents were no longer disabled in carrying on their daily lives. McCullough herself summed
up the social construction concept when, in response to negative public reaction to her choice, she said: “It is a perfect example of how people's attitudes, and not deafness per se, disable deaf people.” The deaf community is a
tightly knit one, and Duchesneau and McCullough represent the modern incarnation of the Deaf Power movement,
which has mobilized to change social conceptions of deafness since the 1970s.
PGD and the normative framework that surrounds it threaten not only to devalue the lives of those who are deaf
(as the disability-rights critique argues), but also to reinforce the disability label that the community is attempting to
shed and to limit the choices of people within that community. By officially sanctioning the “disability,” “diseased,” or “abnormal” labels, the therapeutic/nontherapeutic framework lends a significant layer of credibility to the social construction of deafness as a disability. In another context--that of reproductive choice--deafness
is presented and treated as a disability and the choice to prevent it as therapeutic. This layer of official recognition
creates one more barrier for those people who, like Duchesneau and McCullough, believe that deafness is not a disease, but a cultural difference. Thus, the therapeutic/nontherapeutic framework contributes to a cycle in which the
social construction of disability leads to the disability label, which further perpetuates and confirms the initial construction.
The therapeutic/nontherapeutic framework also limits the PGD choices that people who share Duchesneau and
McCullough's views can make; it disallows a choice to implant an embryo that will be deaf. Parents who desire a
deaf child must, at best, rely on the genetic lottery and random implantation, while parents who desire a nondeaf
child may choose to implant selected embryos directly. Moreover, the “disease” label focuses allocation of resources
toward finding a cure for deafness, rather than toward making accommodations for those who are deaf (such as
those made in the Martha's Vineyard community) in order to integrate them better into society.