Harvard Law Review. Volume 118, Issue 8, June 2005.
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.
PGD raises many serious ethical concerns: To what information about embryos should parents have access? On what information may they base implantation choices? While commentators have suggested highly variable answers to these questions, one normative framework is often repeated: PGD for therapeutic reasons is morally acceptable, but PGD for nontherapeutic reasons is not. This Note examines one underexplored critique of this framework: the pathologization problem. Labeling a PGD decision “therapeutic” immediately pathologizes the trait at issue, thus harming people with that trait, constraining reproductive choices surrounding it, and ossifying negative social attitudes toward it.
After discussing PGD and different approaches to its regulation in Part I, this Note develops the pathologization problem further in Part II by presenting two case studies involving deafness and sexual orientation. Part III suggests two possible modifications to the therapeutic/nontherapeutic framework in response to the pathologization problem: permissively eliminating the therapeutic/nontherapeutic line and shifting that line to a less problematic location. Part IV evaluates the effects of these modifications and concludes.
PGD: What Is It and How Is It Regulated?
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.
PGD has been possible for over a decade and is currently available in at least seventeen countries. It involves two stages: IVF and genetic testing. In IVF, parental sperm and eggs are collected and brought together to create fertilized eggs. By their third day, the zygotes consist of about eight cells and are transferred to the woman’s uterus.
PGD’s genetic tests are performed at the early preimplantation stage of a six- to ten-cell embryo. Clinicians remove one cell and analyze its DNA for certain genetic and chromosomal characteristics. Currently, a panoply of genetic tests are available, including those for cystic fibrosis, Tay-Sachs disease, Down syndrome, Hemophilia A, and sex. The embryos selected for implantation are ultimately transferred to the woman’s uterus; the extra embryos may be discarded or frozen for future use.
It is important to distinguish between PGD and genetic engineering. The embryos on which PGD is performed are comprised of random combinations of parental DNA. PGD does not involve altering the genetic makeup of any embryo; rather, it involves the choice among embryos created through the traditional IVF process. Parental choice in PGD is thus limited to embryos and traits that could and actually have resulted from the union of the original parental genes.
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.
Professional societies play a number of different roles in medicine; they publish journals, develop and lobby for policy initiatives, and oversee the quality of their membership. One means by which they ensure quality of care is through the implementation of ethical guidelines. The American Society for Reproductive Medicine (ASRM), for example, has promulgated ethical guidelines for the use of PGD for sex selection. In 1999, it recommended that physicians discourage PGD used solely for sex selection. In 2001, it changed its position and declared that doctors should be free to offer nontherapeutic sex selection PGD for gendervariety reasons. ASRM reversed its position again in 2002, stating that PGD for gender-variety reasons “should be discouraged.”
The ASRM guidelines are a salient example of two striking features of professional society regulation—adaptability over time and flexibility in implementation. ASRM changed its position twice in just three years. This observation suggests that professional societies may be better than slow-moving legislatures at tracking evolving social attitudes and developing policies accordingly. Also, because the ASRM guidelines use soft language, such as “should be discouraged” and “free to offer,” clinics and physicians have significant room to interpret and implement these guidelines. Of course, adaptability and flexibility have undesirable aspects as well—a system intended to be uniform may not be uniform at all, and a system may seem arbitrary if it frequently vacillates between positions. Moreover, in a perpetually changing system, parents will not have settled expectations about PGD. When deciding whether to undergo PGD, they may expect certain guidelines to govern, but those guidelines could change by the time PGD is actually carried out, altering available options.
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 decision-making, 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.
2. What Is the Normative Framework for Regulation?—There is a spectrum of potential normative frameworks for PGD regulation, the two poles of which are complete permissiveness (allowing all PGD) and complete restriction (prohibiting all PGD). While each pole has its supporters, many scholars agree that PGD should be regulated through an intermediate model.
One popular intermediate model distinguishes between therapeutic and nontherapeutic uses of PGD. Under this model, therapeutic use is acceptable; nontherapeutic use is not. This model balances the individual and social benefits of PGD against its individual and social harms. Nontherapeutic PGD has some benefits, such as promoting the happiness of parents and conferring advantageous traits on children. But proponents of this normative framework argue that the harms associated with nontherapeutic PGD far outweigh its benefits. These harms include discrimination based on genetically determined traits, creation of children as a means to an end, and the development of a class of genetic elites. Balancing the harms and benefits of therapeutic PGD, however, produces a different result. Therapeutic decisions, for example, do not present parents with the same opportunities to select for desired traits. Moreover, therapeutic PGD eases the burden of caring for an ill child. Finally, therapeutic PGD corresponds with the goal of disease prevention. The remainder of this Note critiques the therapeutic/nontherapeutic framework by adding another concern to the balance: the effects of pathologization.
As stated above, individual-level regulation cannot uniformly implement normative line-drawing. Therefore, for the therapeutic/ nontherapeutic framework to be effectively implemented, it must be introduced at the governmental or medical professional level. Advocates of this model are divided as to which is most appropriate.
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.
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.
A hybrid critique merging the disability-rights and pathologization critiques is also possible. This approach focuses on the pathologization harms that result from parental choice, regardless of official labeling. The labeling in this hybrid critique results implicitly from aggregated and consistent parental choice, not from an official framework set forth by the government or medical professionals. Thus, this hybrid critique combines the cause of harm in the disability-rights critique with the type of harm described by the pathologization critique. It has a broader application than either of the critiques described above would have in isolation. The disability-rights and pathologization critiques, for example, are difficult to apply to sex selection. The disability-rights critique is limited by its focus on disability; no one would contend that sex is a disability in the traditional sense. The pathologization critique is also limited by its focus on the official labeling of “diseases” and “nondiseases”; it is unlikely that either sex would ever be officially classified as a “disease.” The hybrid critique, however, can transcend these limits. Aggregate parental choices against embryos of one sex implicitly label these embryos as less desirable. If female embryos were selected against, for example, this implicit label could result in negative social attitudes toward women and in social pressure on parents to make certain PGD choices—for example, always to choose a son as their first child. Note, however, that the hybrid critique falls apart if there is no discernable parental choice pattern in the aggregate. Therefore, if one is troubled by sex selection even when parents choose to implant male or female embryos with equal frequency, this concern must be explained outside of the pathologization critique altogether.
Although all three of these critiques are relevant to the ethics and regulation of PGD, the case studies below focus on the pathologization problem in its pure (that is, nonhybrid) form to illustrate the contours of that critique as fully as possible. They will, however, draw from the disability-rights and hybrid critiques as appropriate.
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.
Case Study 2: Sexual Orientation
Angela and Barry are a couple undergoing PGD. The parents-to-be elect to run all available screenings. When sharing the screening results, the clinician informs Angela and Barry that he can only share information therapeutic in nature, as it is the clinic’s policy not to allow PGD for nontherapeutic reasons. After studying the results to which they have access, the parents-to-be notice one piece of data conspicuously absent—the results of a newly-available screening for sexual orientation. In response to their concerns, the clinician notes that the test has been performed, but he cannot release the results because the clinic has not yet concluded whether decisions to implant based on sexual orientation should be considered therapeutic or not. Angela and Barry, both of whom have gay relatives, argue that such decisions are most certainly therapeutic. Although they love their gay relatives, these relationships have made them acutely aware of the difficulties that homosexuals face in today’s society. Choosing to have a heterosexual child would make that child’s life easier and more “normal”; to them, there is no doubt that it would be a therapeutic decision.
Unlike the deafness case study described above, this case study is a hypothetical one. Although plausible, it rests on one key assumption: the existence of a genetic basis for sexual orientation. Despite a spate of claims in the early 1990s proclaiming the discovery of a “gay gene,” these experiments have yet to be successfully replicated and confirmed. Nonetheless, this Note assumes, like many other scholars have, that some genetic basis for same-sex attraction will be found and screenings for it developed.
This case study highlights a different facet of the pathologization problem than does the deafness case study considered above. Unlike deafness, which is commonly considered a “disability,” sexual orientation is not. While the pathologization harm for deafness lies in reinforcing a widely accepted socially constructed label in the face of growing opposition, the pathologization harm for sexual orientation lies in attaching a label to it in the first place. PGD thus not only reinforces social attitudes in the sexual orientation context, but also actively shapes a social agenda and lends credibility to particular social attitudes when a consensus has not been reached.
The pathologization critique of PGD for sexual orientation builds upon debate surrounding the search for a “gay gene.” Some members of the gay community have lauded attempts to find a genetic basis for sexual orientation. Such a discovery, they believe, would prove that sexual orientation is a biologically determined fact that should be accepted as a normal biological variation, much like height or eye color. Others, however, fear the implications of such a finding. They see the search for a “gay gene” as an invitation to perceive homosexuality as a biological abnormality, much like Huntington’s or Alzheimer’s disease, and to attempt to cure it. If a PGD regulatory framework were to force an official categorization of implantation choices based on sexual orientation as nontherapeutic or therapeutic, it would also force an explicit endorsement of one of these two views. Given the current hostile social climate toward homosexuality, it is not unlikely that a regulatory institution would endorse the view of homosexuality as disease. Backed by either legal or medical institutions, the classification of homosexuality as a disease would have significant negative consequences for gay rights, harkening back to the days when homosexuality was considered a psychological disorder, “curable” through painful and humiliating treatments.
The history of the psychopathologization of homosexuality demonstrates the actual harms caused by officially labeling homosexuality a disease. In 1952, the American Psychiatric Association (APA) listed homosexuality as a mental disorder in the Diagnostic and Statistical Manual, Mental Disorders (DSM-I), the profession’s standard nosology; homosexuality remained listed in the 1968 revised edition, Diagnostic and Statistical Manual of Psychiatric Disorders (DSM-II). Not until 1973, after three years of relentless challenges from the gay community, did the APA delete homosexuality from its nomenclature. Gay activists described psychiatry as “the most dangerous enemy of homosexuals in contemporary society,” fostering “social exclusion[], legally sanctioned discrimination, and familial rejection.” As the profession’s understanding of homosexuality evolved, so did its acknowledgement of psychiatry’s effects on the lives of gay individuals. Some psychiatrists described “the classification of homosexuality as a mental illness [as] nothing more than the cloaking of moral judgments in the language of science” and soon made statements “linking the prevailing pattern of social discrimination to the psychiatric classification of homosexuality as a disorder.” The effects of a major medical association labeling homosexuality a disease are thus not hypothetical. If PGD were to force the label of “disease” upon homosexuality once more, whether backed by law or medicine, the resulting social harms would likely be similar to those already experienced three decades ago.
Although the above discussion focuses on pathologization harms that result solely from overt official labeling, the hybrid critique also offers some insight here. Harms would certainly also arise in this case from parental choice. Regardless of the regulatory scheme, if parents consistently choose not to implant embryos deemed to have a genetic predisposition for same-sex attraction, this pattern would have a harmful effect on the homosexual community. Traditional disability-rights-critique harms would result (for example, sending a message to homosexuals that their lives are not worth living or to parents of homosexuals that they never should have had children), as would pathologization harms. Through consistent parental choice, the implicit labeling of homosexuality as an undesirable or abnormal trait would ossify negative social values toward homosexuality, framing it as an illness in need of a cure, and placing social pressure on other parents not to implant embryos with that trait.
Modifying the Normative Framework
The previous Part articulated an underexplored flaw in the therapeutic/nontherapeutic normative framework: the pathologization problem. This Part suggests two alternatives for modifying the framework to address pathologization harms: permissively eliminating the line distinguishing therapeutic from nontherapeutic PGD or moving the line to a different intermediate point along the normative spectrum.
Permissively Eliminating the Line
One response to the pathologization problem would be to avoid labeling altogether and to allow PGD for any trait, regardless of its therapeutic or nontherapeutic nature. In such a system, the regulatory authority would lend no official credibility to any characterization of a trait and would thus avoid the problems of confirming and continuing the social construction of disability. Practically, such a system would leave all decisions to parental choice. Individuals could still implement their own personal normative frameworks about the proper use of PGD; not all individuals would take full advantage of a permissive regime by running all possible screenings. The benefit of this internal framework is that it lacks any official backing of social attitudes by law or medicine and allows many different social understandings to coexist.
The benefits of such a system are best illustrated by a return to the deafness case study. In a completely permissive PGD system, Duchesneau and McCullough could choose both to screen for deafness and to implant embryos that will be born deaf. A therapeutic/nontherapeutic normative framework neither stands in the way of their beliefs or their choices nor perpetuates the social construction cycle of deafness as a disability.
One may object to this modification by arguing that it simply moves the pathologization problem into the private sphere. Even though neither the government nor medical professionals would be labeling certain traits as therapeutic or nontherapeutic, individuals would surely be doing so as they made personal choices about PGD. If most parents understood deafness as a disability and selected against embryos with that trait, would not the pathologization problem occur just as extensively? This objection is simply a restatement of the hybrid critique—even without official labeling, pathologization harms remain. Such an objection, though, fails to recognize the magnitude of pathologization harm avoided by moving choice from an official level to the individual level. Without an official sanction, pathologization harms decrease in magnitude because the harms that result from the official labeling itself (as opposed to implicit labeling) no longer exist. Moreover, the hybrid critique relies on the assumption that a significant majority of parents will make consistent choices whether to select for or against certain traits. Different individuals, however, will entertain different beliefs and will be allowed to act on those beliefs freely. Without an officially sanctioned therapeutic/nontherapeutic regime, it seems unlikely that most parents would adopt such a framework. Individuals may balance the interests at stake differently and may develop their own models on which to base PGD choices—models that may not involve labeling a trait as a disease or nondisease.
Finally, a permissive regime is most consistent with the American legal framework surrounding reproductive choice. Given that the state may not create a substantial obstacle to a woman’s termination of her pregnancy for any reason—even a nontherapeutic one—before viability, it is difficult to argue that she may not also choose to initiate a pregnancy for any reason. There is something troubling about a regulatory scheme that does not allow a woman to use PGD to choose, for example, to implant an embryo that will be deaf, but does allow her to abort a fetus if she finds out it will not be deaf after several weeks of pregnancy. This observation rests on a widely held intuition that abortion of a pre-viability fetus is more morally troublesome than the storage or destruction of a six-to-ten cell embryo. If the abortion framework is principally permissive (at least before viability), one can convincingly argue that the PGD framework should be as well.
Moving the Line
Another option would be to move the line on the normative spectrum from therapeutic/nontherapeutic to a less problematic location. Such a move would avoid the harmful task of labeling a trait as “diseased” or “healthy,” “normal” or “abnormal.”
A return to the sexual orientation case study best illustrates the advantages of this modification. The pathologization harm in that case resulted from the forced classification of homosexuality as either a disease or a normal biological variation. If the line were moved toward more serious diseases, then sexual orientation would fall out of the debatable gray area. Reasonable people would not argue that homosexuality is equivalent to a clearly serious condition, such as Tay-Sachs, and no official classification as “disease” or “nondisease” would be necessary.
While any line will produce categorization difficulties around the margins, a line that does not force a disease/nondisease distinction will avoid many of the pathologization harms described above. One possible alternative intermediate framework distinguishes between serious disease and nonserious disease; PGD would be acceptable to eliminate serious disease, but unacceptable for other purposes. Though the definition of “serious” is far from clear, this model at least shifts the locus of debate from distinguishing between disease and nondisease to distinguishing between serious disease and nonserious disease. Most likely, the gray category of traits will be closer to traits that reasonable people can agree are disease traits, thus avoiding the pathologization problem of classifying something as a disease despite the lack of consensus on such a classification. The cases for which pathologization harms are most worrisome would thus fall out of the debate. Another, more objective linedrawing possibility would involve some sort of life expectancy calculation. For example, it would be acceptable to undergo PGD for traits that result in death within four years, but not for other traits. Again, this framework would avoid the pathologization harms discussed above, but it would raise other difficulties. For instance, the life expectancy of children with the same disease can vary greatly. Also, the point at which the “objective” line is drawn may be exceedingly arbitrary.
As with the therapeutic/nontherapeutic framework, any intermediate framework, no matter where the line is drawn, must be enacted at the governmental or medical professional level to ensure uniform application. Thus, any move to maintain an intermediate normative framework must take into account the objections to regulation at these “higher” levels.
Conclusion
The ethics and regulation of PGD raise a host of complex questions. While many scholars have delved deeply into these questions to develop regulatory models, this Note contends that at least one consideration has been overlooked—the social and practical harms that result from the pathologization of traits. This critique is especially applicable to one widely accepted regulatory model: the therapeutic/nontherapeutic framework. By forcing a classification of traits as “disease” or “nondisease,” this model not only asymmetrically limits parental choice and signals the area toward which to direct resources, but also ossifies social attitudes in the face of opposing social movements or unsettled social agendas.
To ease the effects of the pathologization problem, this Note offers two modifications of the therapeutic/nontherapeutic regulatory framework: permissively eliminating the line and moving the line to a less problematic location. Because several ethical considerations must be accounted for when developing a regulatory framework for PGD, it is difficult to endorse fully either modification. Taking into consideration solely the pathologization harms that result from officially sanctioned labels, eliminating the line is the best solution. Switching to a permissive regime removes official labels altogether, thus reducing pathologization harms to zero, while moving the line reduces pathologization harms but does not eliminate them. But if one accounts for pathologization harms that result from parental choice as well (that is, those harms associated with the hybrid critique), the implications of endorsing one modification over the other become a less clear and more empirical question. While line-elimination brings label-related harms to zero and line-shifting lessens them to some still-measurable quantum, neither modification eliminates choice-related harms completely. Eliminating the line may not affect choice harms at all and may even increase them because parents are able to make any choice they desire, leaving no trait immune from the effects of aggregate consistent decisionmaking. Analogously, because moving the line would restrict choices even more (for example, by allowing PGD choice only for “serious disease” conditions), it would lessen choice-related harms. The question in endorsing a modification thus becomes whether the increased choice-related harms that result from eliminating the line are greater than the sum of the decreased label-related harms and the decreased choice-related harms that result from moving the line. Without empirical data, this question cannot be answered definitively.
The complications that arise from considering just one factor in addition to label-related pathologization harms suggest why the development and modification of a regulatory framework for PGD are so difficult—one must account for many factors, all of which complicate the balancing calculus. This Note has considered only one factor in depth—the pathologization problem—and a few others more cursorily—the disability-rights and hybrid critiques. While it suggests two modifications to the therapeutic/nontherapeutic normative regulatory framework, a full endorsement of one or the other remains impossible without the consideration of empirical data and other relevant ethical concerns that remain outside of this Note’s scope. Despite this limitation, this Note has brought forth a new critique that will, one hopes, be added to the list of necessary considerations as ethical inquiries into PGD and other genetic technologies move forward.