To alleviate this current suffering and to help prevent many future victims of genetic injustice from being created, we need to find and study the genes that give rise to these diseases. Once we have found the genetic culprits, we can rationally search for pharmaceutical cures as well as try to develop curative genetic therapies.
James Watson, A Passion for DNA:
Genes, Genomes and Society1
Watson J. A Passion for DNA: Genes, Genomes and Society. Oxford: Oxford University Press; 2000:169.
Many different factors influence our health prospects. The food we consume, the lifestyle we live (e.g., sedentary or active), our economic prospects, our love prospects, our gender, our age, and our education all influence our expected lifetime acquisition of what John Rawls calls the “natural primary goods” (e.g., health, vigor, imagination, and intelligence).2
Rawls J. A Theory of Justice. Cambridge, Mass.: Harvard University Press; 1971.
Childs B. Genetic Medicine: A Logic of Disease. Baltimore, Md.: Johns Hopkins University Press; 2003.
The prospect of human genetic interventions, like gene therapy, raises our hopes that one day we may be able to combat more effectively the often tragic consequences of the natural lottery of life. There are currently 833 approved gene-therapy trials in America and 358 in Europe.4
Taken from Journal of Gene Medicine clinical trial site. Available from: URL: http://www.wiley.co.uk/genmed/clinical/.
Wilson J. Editorial. Human Gene Therapy 2005;16:1014.
New genetic technologies could have an important impact on human health, longevity, and even intelligence, and thus we must take seriously the question of what constitutes a just regulation of such technologies. What will the demands of distributive justice be in the postgenetic revolutionary society? A society that possesses the ability to directly intervene in the natural lottery of life through somatic (or even germline) therapies and enhancements, as well as preimplantation genetic diagnosis (PGD). What values and principles should inform the regulation of these new genetic technologies? To adequately answer these questions we need an account of genetic justice, that is, an account of what constitutes a fair distribution of genetic endowments that influence our expected lifetime acquisition of natural primary goods (health and vigor, intelligence, and imagination). These are goods that every rational person has an interest in. The decisions we now make regarding the regulation of human genetic technologies will determine how quickly and effectively these benefits are brought into existence, as well as who receives these benefits.
Philosophers posit theories of distributive justice that strive to help us deliberate about what would constitute a “fair distribution” of the various benefits and burdens of social cooperation. Some believe that we can give specific conclusions to the questions raised by genetic justice6
Buchanan A, Brock D, Daniels N, Wikler D. From Chance to Choice: Genetics and Justice. Cambridge: Cambridge University Press; 2000:101. The authors argue that two central conclusions should guide public policy choices in the age of genetic intervention. The first is that there is a principled presumption that genetic intervention to prevent or ameliorate serious limitations due to disease is a requirement of justice. And, second, that justice may require regulating conditions of access to genetic enhancements to prevent exacerbations of existing unjust inequalities.
Lindsay R. Enhancements and justice: Problems in determining the requirements of justice in the genetically transformed society. Kennedy Institute of Ethics Journal 2005;15(1):3–38 at p. 5.
Alper J. Genetic complexity in human disease and behaviour. In Alper J, Ard C, Asch A, Beckwith J, Conrad P, Geller L. The Double-Edged Helix: Social Implications of Genetics in a Diverse Society. Baltimore, Md.: The Johns Hopkins University Press; 2002:22.
More specifically, I argue that pluralistic prioritarianism is a theoretical position well suited for tracking genetic complexity. Prioritarians maintain that benefiting people matters more the worse off these people are.9
Parfit D. Equality or priority? In: Clayton M, Williams A, eds. The Ideal of Equality. Basingstoke, UK: Palgrave, Macmillan; 2000:101.
The Impact of the Genetic Lottery of Life
Genetic inequalities permeate our societies. These inequalities are not quantitative inequalities; rather they are qualitative inequalities. Justice is concerned with both kinds of inequalities. Economic inequalities are the most common form of quantitative inequalities. People can have differing amounts of wealth and income. But this does not exhaust the scope on inequalities justice seeks to address. Inequalities in opportunities for education, for example, are typically qualitative inequalities rather than quantitative ones. Children may receive the same number of hours of instruction but the quality of instruction they receive could be very unequal. Similarly, although all citizens have approximately the same quantity of genes (estimates suggest there are between 20,000 and 25,000 protein-coding genes), the quality of our genetic constitutions can vary significantly.
Unlike socioeconomic inequalities, which are a mix of both brute luck factors (e.g., natural endowments, social position, etc.) and choice (e.g., consumption habits, attitudes toward saving and work, etc.), genetic inequalities are 100% brute luck. We inherit our genetic endowments from our parents, and they inherit theirs from their parents, and so forth. No individual is responsible for the genetic endowments he or she is born with. Furthermore, the life prospects for the least advantaged in the “genetic lottery” of life are often extremely grim. Consider, for example, that in America the average life expectancy is around 77 years of age. That number will vary depending on factors like gender, race, and wealth. Although these factors influence the life prospects of Americans, none of them come close to the extent to which genetic variations impact the life expectancy of the worst endowed.10
However, race and gender do influence our susceptibility to certain genetic diseases. For example, African Americans are more susceptible to Sickle Cell Disease. It affects approximately 1 in every 375 African Americans. Tay-Sachs Disease is most prevalent among Jews of Eastern European descent and French-Canadians and Cajuns in Louisiana. The incidence rate of Fragile X Syndrome is much higher in boys (1 in 2000) than in girls, and the effects are typically milder for girls.
The prevalence of the worst genetic disorders, like infantile Tay-Sachs, is extremely small. But there are over 6000 known single-gene disorders, which occur in 1 out of every 200 births.11
Genetic Disease Information—Pronto! Available from: URL: http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml.
See note 8, Alper 2002:20.
The most prevalent diseases—like heart disease, cancer, and diabetes—are not caused by a single malfunctioning allele. These more common diseases are multifactorial diseases. Their development depends on a variety of factors beyond our genetic constitutions. Environmental factors like diet and lifestyle (e.g., exercise, smoking, stress levels, etc.) often play a more important role in determining our risk of developing multifactorial diseases. The American Heart Association estimates that, in the year 2001, 64,400,000 Americans had one or more forms of cardiovascular disease. Cardiovascular diseases are responsible for 1 out of every 2.6 deaths. Coronary heart disease caused 502,189 deaths in 2001 and is the single leading cause of death in America today.13
See American Heart Association home page. Available from: URL: http://www.americanheart.org/.
What will the demands of distributive justice be in the postgenetic revolutionary society? Where do the current and possible future benefits of biomedical research figure in an account of justice? These are questions we must begin to grapple with if we hope to institute a just regulation of new genetic technologies. But we must ensure that our desire to mitigate genetic disadvantage is tempered by an appreciation of the fact of genetic complexity as well as a recognition of the other demands of justice (e.g., the duty to mitigate other forms of disadvantage, respect for reproductive freedom, etc.).
Tracking Genetic Complexity
Informed engagement with the topic of genetic justice promises to help narrow the gap between the related disciplines of political philosophy and bioethics and will, I hope, shift philosophical debates from analyses that function at the level of ideal theory to those that take seriously the constraints of nonideal theory (or the realities of the real world).14
The distinction between ideal and nonideal theory is not given rigorous classification in the existing literature. As Andrew Mason (Just constraints. British Journal of Political Science 2004;34:251–68 at 265) notes, this distinction is employed by John Rawls in The Law of Peoples. An account of justice in ideal theory must recognize “some moderately strong feasibility constraints which require it to be realistic in the best of foreseeable conditions” (Mason, 2004:265). Rawls describes ideal theory as being realistically utopian. Political philosophy is realistically utopian “when it extends what are ordinarily thought of as limits of practical political possibility” (Rawls, The Law of Peoples. Cambridge, Mass.: Harvard University Press; 1999:6). This contrasts with nonideal theory, which is concerned with problems of noncompliance or unfavorable (historical, social, or economic) conditions. Nonideal theory is much more fact-sensitive than ideal theory.
To take genetic complexity seriously, justice theorists ought to embrace pluralistic prioritarianism. Prioritarians maintain that it is morally more important to benefit the people who are worse off. But a defensible version of prioritarianism needs to be pluralistic in two ways. First, it must recognize that diverse forms of disadvantage pervade our societies (e.g., genetic disease, poverty, crime, accidents, etc.). These different forms of disadvantage give rise to a plurality of possible ways of mitigating disadvantage. It is imperative that an account of genetic justice recognize these considerations. Many genetic disadvantages, for example, can be mitigated without recourse to actual genetic manipulation. For example, those whose genetic constitutions put them at a higher risk for suffering disadvantage may be able to avoid the actual disadvantage through environmental interventions (e.g., diet, exercise, etc.)15
Environmental interventions can even be pursued in the case of some single-gene disorders. The mental retardation caused by phenylketonuria (PKU), for example, can be prevented if the patient consumes a low-protein diet.
Determining what prioritarian prescriptions require in terms of remedying genetic disadvantage really depends on who we include in the category of the genetically disadvantaged. To limit this category of people to those with single-gene disorders that cannot be mitigated through environmental intervention would be to identify a very small portion of the population. Furthermore, some of these people will not fare the worst in terms of their expected lifetime acquisition of natural primary goods. Those born with single-gene disorders can have very different life prospects, as the severity and onset of these diseases can vary greatly. Children born with infantile Tay-Sachs Disease, for example, will lose or fail to gain motor and mental skills. This is followed by paralysis and death by the age of 5. Their condition can be contrasted with the life prospects of those who suffer from a late-onset single-gene disorder like Huntington's Disease. Onset of Huntington's Disease usually occurs in the fourth decade. The prognosis for the disease is progressive disability, with death occurring 10–12 years from the onset of the symptoms.16
Connor JM, Ferguson-Smith MA. Essential Medical Genetics. Oxford: Blackwell Scientific Publications; 1984:190.
If we expand the category of the genetically disadvantaged to include those individuals whose genetic constitutions make them more susceptible to prevalent multifactorial disorders (e.g., cancer), then the members of this group will constitute a much more sizable portion of the population. Furthermore, this would also complicate the story of what form of intervention (e.g., gene therapy, education about the dangers of obesity or smoking, early screening, socioeconomic justice, etc.) will best promote the expected lifetime acquisition of natural primary goods for the genetically disadvantaged. These kinds of considerations will impact the priority a theory of genetic justice ought to place on the availability of genetic interventions that seek to directly redress the negative consequences of genetic disadvantage.
One strategy for addressing these types of concerns is to define the category of the genetically “least advantaged” as those individuals whose genetic constitutions place them below half of the median for the expected lifetime acquisition of natural primary goods.17
The genetically least advantaged are a subset of the more general category of individuals who are least advantaged in terms of their expected lifetime acquisition of natural primary goods. Other members of this category include those in serious accidents and those who fare poorly in terms of the acquisition of social primary goods (e.g., the malnourished).
Sickle Cell Disease. Available from: URL: http://www.ygyh.org/sickle/whatisit.htm.
In addition to recognizing the different forms of disadvantage that can impact our well-being, as well as the different possible measures for redressing genetic disadvantage, prioritarians must also be pluralistic in that they seek to balance their prioritarian commitments with other values (e.g., such as utility and freedom). Consideration must be given to the severity and pervasiveness of different forms of disadvantage, the costs of mitigating these different disadvantages, and the likelihood that the benefits of mitigation will be realized. Such considerations require a thorough engagement with the fact of genetic complexity. Diseases can vary drastically in terms of their prevalence, their age of onset, and the severity of their disadvantage (e.g., death, mental retardation, physical impairment, etc.). All of these factors must be taken into consideration if an account of genetic justice is to give due consideration not only to redressing genetic disadvantage, but also to the more general demands of societal fairness (e.g., redressing socioeconomic disadvantage or healthcare needs that have nothing to do with genetic intervention).
Prioritarians would not have to be pluralistic prioritarians if, for example, the following hypothetical scenario was an accurate depiction of genetic disadvantage in the real world:
Hypothetical scenario: All disadvantage in the world stemmed from our susceptibility to equally common early-onset single-gene disorders of equal severity. Furthermore, the disadvantages of genetic disease could be prevented or cured through noninvasive, risk-free, costless genetic therapies.
If the scenario of the postrevolutionary world were like this hypothetical scenario, then it would be much easier to determine what the prescriptions of genetic justice are. This would be the case because in this hypothetical scenario considerations of utility perfectly cohere with those of priority. If those most in need are also those we can help with minimal cost for maximum benefit, then a very stringent presumption in favor of directly mitigating genetic disadvantage via genetic intervention would exist. In such a scenario one might believe that justice requires that we implement a genetic decent minimum. But the case for such a principle is complicated by the fact that many diseases are very rare; genetic disorders can also vary in terms of when the symptoms are manifest in a patient and how severe the disadvantage is. Such complexities can arise even in the case of single-gene disorders.
The complexity in both Huntington and fragile X diseases arises from a segment of the gene called a triplet repeat. A triplet repeat consists of repetitions of a sequence of three bases. In recent years, researchers have discovered that the number of repetitions affects the age of onset of these diseases, the severity of the symptoms, and even whether the disease will appear at all. However, although the gene is inherited from the parents, the precise number of repeats is not inherited. In some cases, the number of repeats will increase from one generation to the next. In the case of fragile X, the degree of increase also depends on the sex of the parent. As a result of this type of complexity, a person in a family with a history of one of these triplet-repeat diseases may be healthy but have a child affected by the disease.19
See note 8, Alper 2002:25–6.
Furthermore, directly mitigating genetic disadvantage through something like genetic therapy would be very costly (at least for the foreseeable future), and it would also be a procedure that carries risks for those involved. In the case of somatic genetic therapy, the risk would fall solely on the patient. If the intervention is a prenatal genetic therapy, there would likely be a risk to the mother and the fetus. And in the case of germline interventions, there might also be a risk to future generations.
The cost of directly mitigating genetic disadvantage through genetic intervention is something we need to bear in mind given the nonideal facts of pervasive disadvantage and scarcity. Many of those who are worse off in terms of their expected lifetime acquisition of natural primary goods are worse off, not because of their genetic endowments, but because they lack access to adequate housing, basic healthcare, or long-term economic security. So the distribution of socioeconomic goods also has a dramatic impact on the health and well-being of a population. Concerns of genetic justice must be balanced against such considerations. In light of these considerations, and those raised by the fact of genetic complexity, prioritarians should reject the principle of a genetic decent minimum and advocate a distributive principle that accounts for the indeterminacies of genetic complexity.
Elsewhere I have argued in favor of a principle I call the “lax genetic difference principle,”20
Farrelly C. The genetic difference principle. American Journal of Bioethics 2004;4(2):W21–8.
Conclusion
Many contemporary debates about distributive justice function almost exclusively on the distribution of what John Rawls calls “social primary goods” (e.g., rights, income, self-respect), whereas accounts of just healthcare tend to focus almost exclusively on access to healthcare. The former ignore (or are ill equipped to deal with) the issue of just healthcare, and the latter tend to ignore the more general issue of societal fairness. In “Broadening the Bioethics Agenda” Daniel Brock addresses these kinds of concerns, especially those facing accounts of just healthcare. He highlights two shortcomings of the bioethical discussions of justice or equity: First, that “the focus on establishing a right to health care has left bioethicists largely silent on the important and complex moral issues faced when limited health care resources must be prioritized.”21
Brock D. Broadening the bioethics agenda. Kennedy Institute of Ethics Journal 2000;10:21–38.
Parallel shortcomings exist in contemporary debates about distribution justice more generally. Many “rights-based” theories of justice adopt a cost-blind approach to rights protection and are thus ill equipped to address the issue of trade-offs in rights enforcement that inevitably arise given the fact of scarcity.22
See Holmes S, Sunstein C. The Costs of Rights: Why Liberty Depends on Taxes. New York: W.W. Norton & Company; 1999, for a compelling argument against the cost-blind approach to rights.
Supporters of Rawls have attempted to rectify some of these shortcomings by adding healthcare to the list of things governed by the principle of fair equality of opportunity. See Daniels, N. Just Health Care. Cambridge: Cambridge University Press; 1985.
The cost-blind approach to rights, and to the demands of justice more generally, is evident in both Rawls' defence of his serially ordered principles of justice that govern socioeconomic goods,24
See my book Justice, Democracy and Reasonable Agreement, chapters 1 and 2. Basingstoke, UK: Palgrave MacMillan; 2007.
To link the two related disciplines of political philosophy and bioethics, one must be cognizant of the different aims such theorizing can have. These differences are addressed by Søren Holm in a recent editorial in the Journal of Medical Ethics. Holm argues:
The standard [bioethics] model, and to an even greater extent the rhetoric of ethics, often imply that there is only one right solution to each policy making decision, and that it is possible to find this solution, and to know that it is the right decision…. In contrast, theorizing about deliberative democracy proceeds from the assumption that whereas there might be a right solution, it is often impossible to find this solution or to know that it is the right solution in any absolute sense. The best we can do is to outline the area of acceptable policies, and then choose a policy within this area through a deliberative, democratic process.25
See Holm S. Bioethics down under—Medical ethics engages with political philosophy. Journal of Medical Ethics 2005;31(1):1.
The argument I have advanced in this paper is not one that seeks to win a philosophical argument. Rather, my aim was to help us deliberate about legitimate public policy in a morally pluralistic liberal democracy. Such an enterprise will, by its very nature, end up somewhat indeterminate, as Holm notes. I have not advanced concrete policy prescriptions concerning, for example, access to genetic therapies. Rather, I believe that accounts of genetic justice that take genetic complexity seriously will help lead us to a certain range of regulations (e.g., ones that promote innovation and recognize the different dimensions of human disadvantage) rather than a different range of options (e.g., ones that presuppose genetic determinism or ignore the expected harm of existing genetic inequalities). Furthermore, a pluralistic prioritarian account of genetic justice will help us to make explicit the reasons why we should consider a certain range of policy prescriptions rather than a different range of policies. But I have not sought to preempt the public debate on these important and contentious topics. I believe the philosopher has an important role to play, but a political philosopher who seeks to engage, in a substantive manner, with issues of public policy should be aware of the limitations of a philosophical analysis of political values. We can better ensure that our theorizing about genetic justice does not transcend these limitations by invoking an account of genetic justice that tracks genetic complexity.
