Genetics and Social Justice
- Ann Lewis Boyd, Ph.D.
Hood College, Frederick, MD 21701 U.S.A.
Eubios Journal of Asian and International Bioethics 12 (2002), 167-171.
As the wealth of information streams in from research on the human genome project (HGP), the challenge to individuals and societies increases regarding ethical applications. The scientific achievement is impressive and provides a blueprint of the human genome. How shall we use the information as moral agents? The Socratic question, "What is good?" has haunted philosophers for thousands of years and seems the appropriate place to begin thinking through all the choices within genetic medicine. On the one hand, individuals or groups may regard the information as a giant stride forward in predicting and curing genetic diseases, of reducing suffering for many at risk individuals. On the other hand, it is also possible that some individuals will see an opportunity to improve human talents and eliminate all "defective" phenotypes. It is not wrong to develop genetic information and invent new methods to improve health, but to expect too much from the genetic revolution risks misapplication and unrealistic hopes. Diversity of talents and physiological potential surely will continue to compel us to be tolerant of those with limited abilities while seeking to do the most we can to promote the potential within each person. Biology, even genetics, is not equipped to equalize talents or endow everyone with maximum potential, nor is it the intention of science to achieve such an objective. It is a subjective judgment that defines "normal" or "disability." The moral challenge presented by the HGP is the reminder that human persons are more than their genetic profile. Human persons are relational beings, members of families, communities, and societies.
As the human genetic blueprint is revealed in computer databanks generated from scientific research, individuals and societies are deciding how to use the new information in beneficent ways. The genetic revolution in medicine offers creative strategies to reduce suffering, even eliminate certain types of genetic disease. The promise implicitly resident in the genetic data is the implicit suggestion of improving future generations. However attractive brighter, lovelier, and healthier children may be, we must wonder if all this can or should be accomplished (Lachs, 2000). The bond between parents and children is often enhanced by the identity recognized among genetically related persons. It is no more tempting to enhance the educational and economic advantages of our children than to hope to spare them one or more of our genetic disadvantages. The caution rests in whether or not we have the complete genetic story that will allow us to make predictions of advantage. The limit of our knowledge certainly does not mean that we should resist such efforts, but we should proceed with caution.
It is now amazing that hundreds of genetic traits can be tested using microarray chips. It is clear that prospective parents want to take full advantage of the new technology to screen fetuses and newborns. The advocates of large scale screening of newborns assert it is not wrong to want more information about a child, especially when it may be possible thereby to increase the quality of life or even save a life. Which traits should be included? Should we test for any and all traits for which we have DNA sequence information that informs us about physiological health? Are the tests being developed on the basis of severity of disease caused or the mere evolution of information stemming from research? How is the priority of various genetic tests developed? Should all genetic traits be subject to testing? Should the highest priority be given to genetic diseases that offer little or no hope of sustaining the life of a person? Should the priority of testing reside in the autonomy of the parents making the best choices they can for their future children, or with the larger social group who shares in the health care support for all members of the group?
Surely most people would agree that it is good to develop scientific ways to eliminate or reduce human suffering. No person deserves a horrific genetic disease that limits the quantity and quality of life. The question is not whether it is right to create interventions for genetic diseases but which diseases or genetic traits are worthy of wide-scale screening. In societies where universal health care is provided by the collective participation of all members of the society, the development of screening and testing priorities may reflect the social norms of the social group as well as the economic benefit to the whole. In countries such as the U.S.A. where health care is more privatized and less universally available, it is not clear whether the severity of the genetic trait or the economic impact will have the most influence. Certainly parents who have borne the pain and suffering of a child with a genetic disease resist any public resistance to mandate universal screening programs (Marshall, 2001). The technological imperative has an almost irresistible force in genetics: what can be done must be done! We can do genetic testing for many traits. How shall we proceed?
The rapid pace of development in genetics is impressive and somewhat daunting. Recently, a group of scientists reported scanning 21.7 million base pairs on human chromosome 21 (more than two-thirds of the chromosome) (Patil, et al., 2001). The report illustrates a paradigm shift in technology. Early genetic testing and screening focused on a single gene, and more often a sequence of DNA within the gene that predicted the risk associated with a specific disease or trait. It is difficult to imagine where the limits of testing and screening capabilities will end. The ability per se is entirely consistent with the biomedical intent to understand human physiology and molecular pathology of specific genetic diseases. Will we be able to or should we stop with disease related testing and screening programs?
In 1902 Sir William Osler wrote, "To wrest from nature the secrets which have perplexed philosophers in all ages, to track to their sources the causes of disease, to correlate the vast stores of knowledge, that they may be quickly available for the prevention and cure of disease - these are our ambitions" (Osler, 1902). The goal is worthy of any biomedical research project. However, the complexity of the human genome warns against expecting large-scale amelioration of human genetic deficiencies. Scientific research continues to reveal a wide variety of relationships between genotype and phenotype. The tolerable distinctions between disease, dysfunction and disability will need to be carefully crafted. Given the plurality of human perspectives about something as subjective as beauty, it is vexing to imagine a universally agreed upon line of distinction between normal and abnormal. Where is the line? Will it vary according to the moral conscience of individuals, cultures, insurance companies, or government agencies?
Norman Daniels offers what he calls a "species-typical normal functioning" definition of normality (Daniels, 2000). The range of normal functional capacity for the human person is contrasted with adverse departures that constitute disease and disability. The person suffering from a disability cannot function in the same way that the majority of persons do and therefore is at an unfair disadvantage. The community, asserts Daniels, has the duty to intervene on behalf of the vulnerable. Even if the community has such a duty, deontologically speaking, it is not clear which persons within the community will make the differentiating criteria of "normal." The proposal begs the question, "Where should we draw the line between normal operation and disease?" Furthermore, the linkage between disease and impaired opportunity are not directly apparent. It is possible to be dysfunctional but not ill, and to be ill and functional. The individual perspective may vary widely from the collective opinion of the community and among diverse communities.
The controversy surrounding applied testing for connexin 26 mutation, Cx26, is an example. Mutations in Cx26 account for more than half of all cases of hereditary, nonsyndromic hearing loss. The genetic cause of deafness is autosomal and recessive, with a 3% carrier rate in the general population (Cohn, 1999). Proposals for genetic testing of infants who show signs of hearing loss and correcting the condition with cochlear implants provide an intervention that would improve hearing in affected individuals. Members of the deaf community consider such a proposal an attack on the deaf culture (Middleton, 1998). The normative value of the non-deaf community is to view deafness as a defect, a disadvantage, abnormal because by contrast hearing is considered the normal ability. The conflict in values based on the experience of hearing vs. deafness brings the point into focus; deafness is "defective" from the subjective perspective of the hearing majority (Davis, 2000). Therefore what a person with the "disability" considers desirable is a relevant consideration in deciding what traits to correct and which ones to accept within the range of diversity of values. This reminds us to take individual differences seriously (Lacks, 2000).
Eliminating suffering is a wonderful ideal for scientific and medical research but it neglects the reality that suffering is part of the fabric of human experience. Whereas suffering is neither good nor desirable in itself, struggle and recognition of human finitude is an integral fact of human life. Care should be taken to differentiate between suffering and pain and to be clear about what we mean by suffering. Pain is a physiological response to a stimulus, a biological signal. The nervous system of the human being is constructed such that the sensation of warmth is good but an increase of only a few degrees Celsius produces pain. Suffering, in contrast, is an emotional response to the anticipation of separation from the life we know, from family, friends, pleasures, and the recognition of our finitude. It is a profound and disturbing human experience, involving crisis, and a threat of degradation of the human person. Suffering takes in the whole human person, affecting reason, relationship, a sense of a future, the spiritual as well as the physical elements of life. "Suffering is a spiritual phenomenon, an event that strikes at the faith we can have our response to the suffering of the other must be compassion, not explanation Suffering has a meaning in the inter-human world" (Van Hooft, 1998). If there is a positive element in suffering, it is the way suffering teaches us to care for others. Making such a distinction does not mean that suffering is to be tolerated as a good in itself, nor that we should not pursue means to relieve it. However, we must recognize that every person will suffer to some extent in life.
Human life often requires us to live with and overcome pain and suffering. Any person unable to endure any degree of pain would be considered lacking in character (Shickle, 2000). The dilemma raised by genetic research is moral. We must remember that the decisions we make about how we will use genetic information will affect future generations. Technology is not self-propelling; individuals craft public policies for good or ill. Scientific progress is subjective and does not offer a guarantee of future improvements. Whether we use the new scientific achievements for wise interventions to improve human health will be judged by future generations.
Many years before the HGP revealed our genetic blueprint, C.S. Lewis prophetically cautioned us to recognize the limits of human knowledge in The Abolition of Man (Lewis, 1944). Appealing to the Tao as the basic commonality of human nature wherein human value judgments reside, Lewis rejected the relativism of ethical norms as culturally derived. In an imaginative way, Lewis takes us down the path of logic as we seek to dissect nature and unravel her secrets to manufacture our creations.
"Each generation exercises power over its successors: and each, in so far as it modifies the environment bequeathed to it and rebels against tradition, resists and limits the power of its predecessors if one age really attains, by eugenics and scientific education, the power to make its descendents what it pleases, all men who live after it are the patients of that power The final stage is come when man by eugenics, by pre-natal conditioning and by an education and propaganda based on a perfect applied psychology, has obtained full control over himself. Human nature will be the last part of Nature to surrender to man" (Lewis, 1944, p 68-70).
Certainly there is no guarantee that these "final creators" will recognize any concept of duty, or agree with our perception of good or bad. Lewis foresaw a dominant pattern in human curiosity and deductive reasoning that could lead to an unchecked progression to master human nature as the last frontier of scientific progress. We need not despair that such predictions necessarily will become future reality, if we are open to dialogue, craft public policies with sensitivity to diversity, and don't expect science to perfect our human lives. We must remember that human persons are relational beings and tolerance to diversity respects human dignity. We must resist reducing human persons to things to be improved.
It is interesting to note that when Lewis was writing the Abolition of Man, scientists were publishing the first experimental evidence that DNA was the genetic information but it was also twenty years after the U.S. eugenics program to restrict procreation among retarded citizens. Have we progressed morally enough to encounter the human genetic profile and resist the temptations of eugenics? Unwilling to accept what we may regard as imperfection in ourselves and others, and eager to contain rising health care costs, we become cost-benefit analysts of human life. This attitude has troubling ramifications in reproductive decisions. If a third-party payer requires prenatal testing or in utero screening and refuses to cover the care of a "defective" child, how close is this to the historical experience of eugenics? If we use gene or drug therapy to improve the workplace, educational environment and replace exercise with metabolic interventions, are we not poised for a replay of the eugenics movements of the early 20th Century? (Allen, 2001). The temptation is not limited to which conditions are worthy of life, from conception to birth; rather the whole normative value of a person is a stake. The conditions deemed "defective" would serve as dividing barriers to separate persons in ways that compromise the integrity of the community and risk redefining the relational nature of persons. If human beings cannot be sensitized by the suffering of another and develop tolerance for diversity of talents, how can human communities flourish?
The commercialization of genetic information follows closely on the heels of the completion of the Human Genome Project. The inequalities between rich and poor individuals and nations are likely to be exaggerated by the for-profit spin-off companies and projects that develop using genetic information. Much of the focus has been on diseases commonly found in North America, Europe, Japan, Israel, Australia and New Zealand, where significant numbers of people can afford the new genetic technologies (Knoppers, 2000). Benefits associated with testing and screening programs have so far been restricted to payment of research participants or the therapeutic benefits of clinical trials. Unless national and international agreement is reached soon regarding a wider concept of social justice, the chasm between haves and have-nots will widen. The issues of risk-benefit assessment are complex. Should they be assessed in relationship to families, communities, ethnic groups, or in some more general concept?
Justice considers what each person's fair share of good is within the community (local, national, or global). Each person has a stake in the community analogous to the shared space in the center of a town or village which was designated the "commons." Every person will not require the same amount of assistance; some will withdraw more and others less from the resources of the collective unit. For example, consider the case of a trisomy 18 child with severe retardation, heart defects and limited life expectancy. The child will experience pain and the parents will suffer watching her fail to thrive and eventually die. The cost of her care in terms of financial resources will be great but so is the emotional impact on her family. The condition is detectable within the first few months of pregnancy. If the parents elect an abortion, their suffering is abrogated in one way but perhaps not in other ways. Would any person require an abortion or refuse to provide medical care if the parents declined the abortion? What quality and quantity of life can a person reasonably expect the community to support? Is the choice entirely on the shoulders of the parents who must choose what they think best for their child? Recognizing the relational nature of persons it seems wise to suggest that counseling is important to inform such prospective parents of the condition, its effect, and present options but avoid any prescription about their moral choice.
Transposing the same symptoms characteristic of the trisomy 18 child to an elderly person, over 90 years of age, with advanced dementia and heart failure, we are facing similar considerations in the dialectic between personal autonomy and community based resource allocation or justice. It is difficult to suggest that the elderly person should forego living longer because his life is costly to the community. Are there not reasons to respect and care for him? If we restrict the terms of quality and quantity of life and draw boundaries today to eliminate persons we deem too compromised to be born, what does this mean for others, compromised by age, or accident? It may be that the juxtaposition is false and that we have different responsibilities to those unborn to prevent a life of suffering, but an obligation to a member of the community to provide assistance when age or disease or accident render them dependent. What the comparison does offer is a way to ask what kind of information we expect to extract from genetic testing.
A child born with no known genetic defects can die suddenly without known cause. His death is tragic, unexpected, but his limited life can be very important to his parents. Are we to suggest that his life is not worth living because it was short, or his death caused much grief and suffering for his parents? No, he was a member of a family and even though his death caused pain, his life was important to them. How individuals decide in the best interest of themselves and their children is often based on individual circumstances. While all will not make the same choices, we have a moral duty to remember that pain and suffering play an important role in the drama of life. The tension between the moral freedom of individual persons and the obligations of social justice seeking to ensure the welfare of the whole community remains relevant and necessary.The common ground of human persons is relational: we live in communities in which all persons have some share. We must ask what genetic traits nullify the relational capacity of the potential person so that prospective parents can make informed choices.
Justice understands the basic character of human persons as socially interdependent and reciprocally related. Liberating the oppressed, bring the marginalized into the larger community, and lifting up the poor requires a self-gift from the privileged. Social justice may be imperfect and partial in reality, but the ideal is worthy of pursuit and therefore must be dynamic in each age and culture. Cultures that promote individualistic autonomy as the independent will of the moral agent rather than the moral responsibility of a person insulates individuals from community based values (Donnelly, 1999). In pluralistic societies the lack of consensus over universal principles challenges us to be creative in finding ways to resolve conflicting claims.
A stable society requires justice while the vital dynamism and internal forces within it depend on the collective well-being. Karen Lebacqz observes, "relative justice involves the calculation of competing interests, the specification of rights and duties, and the balancing of life forces" (Lebacqz, 1986). The reality of limited resources restricts the ideal of justice. Even small increments of progress to make accommodation for the vulnerable requires constant diligence. Recognizing that all persons do not share the same talents, capacities, or opportunities does not negate the equal human dignity we owe to each one. The human person is not a mere means, rather he/she is an end and morally responsible for developing his/her potential. What genetics offers is a way to know the limits of participation and to make provision for inclusion when the person of limited capacity cannot independently "earn" a place. Excluding persons on genetic grounds risks future criteria of "unworthiness" on the basis of perceived failure to contribute or on the basis of costly care. Justice begins by taking injustice seriously and making a commitment to mutual responsibility in which the entire human community experiences a restoration of the fundamental relational nature of persons.
Human beings share 99.9% of our genetic makeup. In the interest of human solidarity we owe each other a share in the common goods. Global resources such as air and sea have been regarded historically as common, and are to be protected for future generations. International law could regard the human genome as a common heritage. Meeting the basic health care needs and being stewards of the genetic heritage in ways that ensure basic health care is a matter of social justice. "Canada's Newfound Genomics devotes 1% of net profits to a charitable trust for the general population" (Knoppers, 2000). This example sets a high moral standard for companies to be good global citizens and invites discussion aimed at a realistic benchmark for sharing our common heritage.
The ideal of the common good is difficult for libertarians and communitarians alike. The pluralism of contemporary society makes a single vision of the good society difficult, but jettisoning the project altogether is more threatening. The common good may be a pluralistic ensemble, but to support and promote the dignity of every human person requires recognizing the relational nature of human persons.
The wealth of knowledge mined from the human genome may prove a source of poverty for individuals and nations unless compassion and humility guide our policy formation process. As economic pressures mount to control health care costs and children with costly conditions risk being outside the range of insurance coverage, individual autonomy as moral responsibility and social justice suffer alongside the demise of respect for persons. Societies and individuals expect the sick and compromised to be treated fairly and with compassion. Economic motives ought never be the driving force in decisions about which traits are test-worthy or life-sustaining. It is hard to imagine what positive benefits some genetic traits may have. At the same time it is also true that no person possesses the perfect genetic profile. Recognition of universal imperfections ought to inspire humility and caution as we create policies that guide the use of genetic information (Boyd and Doering, 2000).
It is the person who is the subject of genetic testing, treatment, and who has by virtue of being a member of the community, a rightful place. If a select list of genetic phenotypes are deemed unacceptable by any group, the individual affected by the genetic profile is excluded from the commons or used as a "mere means" counter to the Categorical Imperative of Respect for Persons. The revelation of the genetic portrait of a person may influence how the individual views herself and others, as well as shape or reshape the concept of personhood and the value of persons. Such a limited view as bio-reductionism should be avoided in order to prevent reducing our understanding of what it means to be human to the mere sum of our elements. Genetic variability and diversity have benefits independent of the dream of genetic perfection.
A parent will take the moral responsibility for deciding what genetic quality of life is in the best interest of her future child. Dignity of the human persons rests on relational capacity, not on the amount of talent or contribution he/she makes to the community. Compassion will require acceptance of both the decision to avoid specific genetic traits and the decision by others to support the same combination of genetic traits. Genetic testing provides valuable information to individuals and the community of humanity. The moral challenge will be to achieve a balance between the good of the individual with the good of the community.
What is "good" lies outside the domain of bioscience. Biotechnology and genetic medicine are the product of creative intellectual effort of many scientists but the application of genetic medicine depends on moral responsibility. A broad understanding of the means-end maxim would not allow personal freedom and choice to cause harm to others or to society. The duty of individuals and social groups to recognize the dignity of every person and devise ways to promote well-being, treating each person as an end rather than as a means or an instrument of another person's purposes. Promoting the moral agency and freedom to give the gift of self and to live as relational beings in community points to the empathic sense of compassion, a very important human contribution to understand and establish morality in contexts.
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