Genetic Testing and Moral Freedom
Lawrence W. Watthey and Ann Boyd
Hood College, Frederick, MD, USA
As scientific progress is made, it is often stated that if something is possible, then it should be done. Otherwise known as the “biotechnological imperative,” the maxim suggests that whatever is possible is desirable and available to all persons. The imperative is therefore false in suggesting that all things possible are desirable and that all persons have the option of using all technological possibilities. Ethical guidelines are left politicians and public policy makers on how best to use the advances in the biomedical world risk bringing humans directly into the path of the run-away freight train named, progress. It would be unwise to trust that political forces would be any different than the power of the autonomous individual if the maxim of whatever can be done ought to be done is embraced. We stand at the transition phase in human scientific progress where our relentless pursuit of natural truth as led to an unprecedented ability to manipulate nature for ends not clearly defined or foreseen. Much like taking copper and zinc to make brass, humans can now manipulate life and the machinery of life in the form of proteins and DNA in ways never before imagined.
Indeed, just recently scientists working for shotgun sequencing entrepreneur J. Craig Venter have taken major steps to create artificial life by replacing the genome of one bacterium with that of another.[1] This is a major step towards creating artificial life designed for specific purposes desirable by humans for any number of reasons. With such advances, are we really far removed from designing an entire genome, inserting it into a stem cell and replacing genomes at will? Perhaps such technology will usher in a new age of gene therapy that is so far unrealized. If so, what will we choose? Who will choose? What role should government take in regulating the access to these choices? These weighty issues will be played out over the next few years as people make their choices and politicians watch and decide how to act. Such questions demonstrate the ethical problems brought about by the rapid advancement that characterizes this age of human scientific discovery. Perhaps the information is not revolutionary, but the application of it is nothing short of world shaking and paradigm shattering.
Joining humanity on this ride is the Pandora’s Box of diagnostic testing. Genetic testing can be predictive and/or diagnostic. When the exact mutation is known to cause a particular disease the test is diagnostic; when the change in DNA sequence means the person with the sequence might develop disease then the test is predictive. As the genome yields its secrets, genetic testing and the subsequent manipulation become possible or so we are promised with the decision to fund and pursue the Human Genome Project. While watching and participating in this scientific thrill ride is a wonderful experience, it is also appropriate that we take a collective pause (however briefly) and take note of the ethical considerations that arise from our technological advancements. This discussion will delve into the murky waters of the ethics of genetic testing and what criteria should be used for making selections based on the results. In addition, the consideration of what tests might be offered and whether or not counseling should be offered (or to what degree it should be offered) in conjunction. Moreover, the risks and benefits of screening and therapy will be evaluated while examining the political and social influences on the process. Ultimately, the criteria for genetic selection and possible enhancement will be explored, all while keeping an eye on the ethical ramifications of humankind engaging in such activities.
Simple Genetic Disease Testing:
Genetic testing has been around since the 1960s when babies were tested for phenylketonuria.[2] Today all newborn children (in countries where such testing is offered) are tested for the telltale signs of high phenylalanine levels.[3] Within forty years, we have gone from near ignorance to having the ability to test every child for this genetic disorder. Now pause, if the parent of this newborn is living in a place where PKU testing is offered, it is a wonderful option, because the disorder is treatable once detected, and the affected children can lead almost completely normal lives. The interventions are dietary and not linked with the difficult choices inherent in more pernicious disorders positing a choice between a termination of the pregnancy and the birth of an affected child. We hear little ethical debate about fairly neutral inborn errors of metabolism, which have conventional therapies and can be detected prior to injury to the infant. It would be easy to conclude that such testing is not only permissible by informed parents but that health care plans, be they universally provided by the government or private pay, should minimally recommend them if not mandate such testing for all newborns. Would making one genetic test mandatory be consistent with the UNESCO Declaration on the Human Genome and Human Rights?
As the UNESCO Declaration codifies the collective ethical thinking of the United Nations’ Educational, Scientific, and Cultural Organization regarding matters concerning the human genome and how genetic information may impact human rights, the document uses the language of respect for persons, beneficence and justice but is silent on the role of nonmaleficence. Is the omission deliberate or does the obligation to do good by removing harms within the principle of beneficence make nonmaleficence unnecessary? The subtle difference in meaning in which nonmaleficence obliges us to not do harm intentionally, the beneficent act may provide benefit(s) even when some harm is necessary for the benefit to be achieved. It seems likely that in decisions to test for genetic traits, the claimed benefit is to prevent a compromised quality of life for the individual with the “mutation.” Who is benefiting from genetic testing? The parents clearly may benefit if the results of a PKU test simply mean using a particular diet and having a “normal” child. If the test is not mandated, will the parents choose to have the test, in circumstances where the child must be taken to a testing facility (however distant) in the first 48 hours of life? Will every parent choose to test? Would not it be more beneficent on the whole to just require all babies be tested? It would appear that basic ethical reflection would support a simple PKU test – and provide the appropriate support for the diet that would prevent mental retardation if the newborn tests positive. Then it dawns on the ethically wise that every parent in every time and place in our world might not have access to testing, or the easily preventable diet. If one part of the world mandates testing, provides treatment, while allowing the remainder of the global population to lack the same “benefit” has the principle of beneficence been met?
Article 12 (part a) of the UNESCO declaration states: “Benefits from advances in biology, genetics, and medicine, concerning the human genome, shall be made available to all, with due regard for the dignity and human rights of each individual.” [4] As we have tried to show in the simple case of PKU testing, making the test available to all is a goal worthy of effort but one not easily realized. “Due regard for dignity” is vague and could mean anything from respecting autonomy absolutely to simply making sure the person is informed. It seems cruel to inform a person and not provide the testing, so it is likely that the average reader will see in this phrase the primacy of autonomy. So the individual has the “right” to choose: if there is a choice!
Context Sensitive Interpretation:
While the UNESCO declaration seeks to provide guidance for a difficult topic and frame the ethical considerations in ways useful for persons and nations, one can imagine a constitutional amendment in the USA: “The right of the citizens of the United States to express his or her own human genome via naturally or artificially aided reproductive processes shall not be infringed, denied, or abridged by the United States Government or by any state.” The protection of individual rights as a restriction on government interference is a strong value. Taken literally, such an amendment would allow anything in genetic manipulation from diagnosis, preimplantation genetic selection, to cloning…all resting in the autonomy of the parent(s), if both parents have equal say in the matter – a point not yet clear. The simple interpretation for political fodder could be: the government should not tell people how to reproduce. The policies and legislative process would address reproductive issues in ways that guarantee the rights of everyone, unless the embryo-fetus were counted as person, in which case the conflict of whose rights has primary sway would evolve. Not only does the “freedom clause” allow exclusion of the embryo or fetus from the free expression of individual rights, it also fails to address the concern that such services are available to the wealthy and those with less access will be unable to exercise their “rights.”
Proponents of human rights in strongly libertarian cultures may simply argue that reproductive advantage has always been to the strong and best adapted. The healthiest most aggressive lions or gorillas mate with the best females. While, one should strive to be morally superior to the lions and gorillas, it is enough to safeguard rights and make resulting options available for those who choose to exercise them. Whatever is lawful is just according to Hobbes. The genome project has provided information that is relevant to human reproduction and health. A policy that rests on a technological maxim with a side dish of libertarian Hobbesian justice will lead through the gate of autonomy to injustice.
A Triad of Principles:
UNESCO wisely proscribed three principles, autonomy, beneficence and justice. Avoiding the primacy of autonomy much removed from the original Kantian concept of moral responsibility in which the right and the freedom of choice of the individual trumps any consideration of the “other” is helpful in constructing an ethical framework. It is not however enough to restrain an individual who thinks control over the genetic makeup of the next generation is a matter of using the right tests and making the best choices. It may be subjective judgment in what is the “right” and “best” choice, presumed to rest in the autonomy of the parent who acts in the best interest of the future child. Hoping for the perfect child under the alluring promise of the human genome databank leads some to fear that any imperfection, again a subjective opinion, will be subject to social neglect or worse. Intolerance is a concern that we ought to take seriously when we advocate autonomy as the sine qua none of ethics. Trusting that beneficence and justice will balance the imperialist tendency of autonomy risks a plurality of understanding as well.
If beneficence is taken as the positive benefit of genetic testing, selecting the best embryo from in vitro fertilization (IVF) on the basis of the genetic scorecard of positive traits, we are left to wonder who will have the “benefit” advantage. If it were possible to tinker with the DNA sequence of a single fertilized zygote, perfecting the sequences related to positive traits, the absence of disease bearing genes, and offer the parents one fine “perfect” embryo, successfully gestated to birth as the desired newborn child, would we be satisfied? Would beneficence then find alignment and balance with autonomy? Is the benefit sought found in the “perfect child”? If perfection is the goal, then positive selection and enhancement cannot be far behind in the technological imperative lurking in the name of scientific progress. It may be that few human beings would consent to such drastic means of having a “perfect” child, but what are the imagined consequences of acting on such a “good” intention? If the genetic blueprint of the human being is known in detail and understood in terms of causation, can it be that a perfect child is a realistic hope? The mere suggestion that a genetically perfect individual can be constructed carries serious risks, including but not restricted to the ultimate reductionistic value of human life. If a person is no more than the sum of his or her genes, what is to inspire moral development, ethical responsibility, or will each “perfect” heir merely act on his/her genetic controlled phenotype? These are not rhetorical questions, but serious risks associated with allusions to perfecting human beings by way of genetics. It is obvious that interpretations of beneficence as wanting the best child, free of disease, unburdened by susceptibility to cancer or infectious disease would be very attractive to those with the means to pursue such an objective. Science is dedicated to making life better and we expect the products of scientific research to offer us not only cures of disease but disease free futures, as if through science we can achieve immortality, at least for a few. The designer future child with all threat of disease and vulnerability removed by genetic editing may or may not have compassion for those genetically less fortunate. To argue that freedom to choose such an advantage without concern for fair access is egocentric and short sighted. History is full of examples of how resistant human beings are to being treated as inferior.
Arguing that justice in terms of access is satisfied on the basis of freedom finds it’s grounding in the primacy of the individual. The truth is that in every geographical location, regardless of political ethos, there is diversity among individuals, in talents, in resources, in health. Long recognized that the most predictive measure of health is wealth, persons of privilege often fail to see the inequality that calls for a better concept of justice than everyone having the freedom to choose. Freedom to choose the best genetic offspring will find resonance in the ultimate free expression of individuals, as a basic element of “rights”. National and international policies seek to construct fair laws and guidelines that treat people with “respect and dignity”.
Having respect for the dignity of person requires more than freedom of choice. It ultimately requires that individuals collectively recognize that human beings are relational beings, interdependent and thrive best in supportive social systems. Pursuit of happiness at the individual level can never reach its goal without ensuring equal opportunity to all. None are free until all are free. Justice requires a larger context than individual freedom of choice. Individuals suffer lack of choice from social systems that ignore need and misdirect resources. In a society where too many lack basic access to health care based on their inability to pay for it is a system that also promotes individual freedom, but that freedom is won at the cost of limited freedom for others. Such a system is inherently flawed when the extent of choices ensured by freedom is enjoyed by some and withheld or limited for others.
To argue: “society is best off when we provide the maximum of freedom, not a maximum of equal outcomes” promotes the status quo of the privileged over the humanity of the neglected. Pursuing the best in humanity at the genetic level is the ultimate in free expression of individuals promotes autonomy in the name of justice. While many fine philosophers and ethicists have posited numerous constructions of justice, a libertarian view of justice is inadequate to the task genetic knowledge poses for humanity. In the range of genetic tests, selections, and putative enhancements on the horizon of humanities future, a more communitarian view of justice is desirable. If justice means correcting injustice, we move toward a more common view of our shared humanity. In this construction we would root out the causes of injustice, the limited choices for some would reveal to the privileged a new choice that aims at correction. To advocate for justice while respecting the freedom of choice of individuals means that systems must be equalized that provides choices to all.
Equality of choice would mean that one person could use testing to avoid a genetic trait only if every person had the same option but no person was required to make the same choice. In this construction, as with PKU, justice would mandate testing and provide treatment. Until all persons everywhere had access to PKU testing and treatment, no more genetic tests would be made available. It is unlikely that freedom proponents would be willing to restrict genetic medical progress on the basis of such idealized systems of justice, but until the full inclusive value of every human being is integrated into policies guiding use of genetic information, the pursuit of individual happiness is open to systemic injustice.
References:
Lartigue, C; Glass, J.; Alperovich, N.; Pieper, R; Parmar, P.; Hutchinson, C.; Smith, H.; Venter, J. (2007), “Genome Transplantation in Bacteria: Changing One Species to Another.” Science: DOI: 10.1126/science.1144622.
Paul, Diane B, “Appendix 5. The History of Newborn Phenylketonuria screening in the U.S. LSU Law Center’s Medical and Public Health Law, (1995), Louisiana State University @ http://biotech.law.lsu.edu/research/fed/tfgt/appendix5.htm.
Voet, Judith G and Voet, Donald. “Biochemistry”, 3rd Ed., Hoboken, New Jersey: Wiley, (2004).
Records of the General Conference, twenty-ninth session. Paris, 21 October to 12 November 1997. Universal Declaration on the Human Genome and Human Rights, 11 November 1997, Part 16.