Ethical and Social Implications

As a professional ethical matter, accepting genotypic prevention as a proper goal of public health genetics has chilling implications. Expanding the geneticist's preventive goals of genetic medicine to include reducing the incidence of pathological genotypes broadens their responsibilities beyond their presenting patients to the next generation's aggregate population. Since the latter will always be a bigger group, its preventive health needs will always be greater by at least some scores (e.g., disease care costs), and therefore, for some, more compelling. This makes it very easy for genetic medicine to elevate what began as a serendipitous "byproduct" of its services—the reduction of disease burden and cost to society—to a central position within its mission, without even noticing when it does so.

Again, such criteria do have a long history in applied human genetics, as basic ingredients in the various programs of "negative eugenics" this century has witnessed. They even continue to be explicitly used by some genetic services programs seeking to justify their public support in economic terms (Chappele, et al; Cuckle). As a result, there is no need to guess at the internal dangers that adopting such ideals would pose for the professional ethics of genetic medicine: the experiment has already been conducted. Experience shows that there are at least four important hazards for the profession:

1. First, the field would have to decide where within the spectrum of human genetic variation to define the pathological genotypes it would seek to prevent (Juengst, 1988). Most of the proponents of preventive genetic screening programs skirt this problem by stipulating that they are only talking about "severe congenital abnormalities" that produce "serious handicaps." (Cuckle). These caveats address this line-drawing problem in a time-honored way, by appealing to common sense notions of severity. In doing so, the proponents of geno-preventive germ-line intervention are following the footsteps of authors like Dr. Nathan Fasten, when he wrote in 1935 that:

Here one must pause to comment that it is difficult to define clearly the standards of desirability or the standards of perfection in the human family. Even so, most normal persons would agree that the hopeless cases of physical and mental defectives, those that are incapable of care for themselves, particularly where it is certain that such defects are the results of hereditary factors, are no asset to society and should be eliminated as quickly as possible. (p. 354)

So far, Dr. Fasten appears to be anticipating the modern argument. However, Dr. Fasten's own list of what "most normal persons" should include in the class of "hopeless cases" is telling:

Here are included the feeble-minded, the insane, the paupers, the confirmed criminals, and the grave sex offenders. This group, in general, is a tremendous burden on society. Genetic evidence has been accumulating to reveal that most of these defects are due to heredity. Social workers also have discovered that from this stock the largest percentage of the dependent individuals originate. Geneticists and social workers, therefore, believe that nothing but good can come from efforts in the direction of the rapid elimination of this branch of society. (p. 355)

Of course, it would be unfair and anachronistic to insinuate that the contemporary advocates of genetic screening subscribe to eugenic ideologies like Fasten's: they clearly do not. The point in resurrecting him is simply to illustrate that it is often hard to know, in the thick of things, how much one's professional assessments of pathology are influenced by larger cultural ideologies and social values.

If genetic medicine is to prevent its practitioners from being lured away into other social agendas, it still must address the challenge of defining its domain. As the intensity of the debates over the prenatal sex selection as a professional practice already demonstrates (Warren), drawing these boundaries will involve just as difficult a set of value judgments as attempts to use genetic technologies to enhance specific human traits. As Dr. Fasten reminds us, without more operational definitions, rhetorical appeals to "severity" and the intuitions of the "reasonable person" will not help brighten any of the lines that will need to be drawn across the spectrum of human traits as genetic medicine's power matures.

2. Moreover, it is increasingly clear that preventing the birth of a particular "pathological" genotype will not always mean preventing a clinical health problem. The more we learn about human genetics at the molecular level, the more complicated the story becomes. One increasingly prominent feature of that story over the last few years has been the deterioration of the theory of specific causation within genetics (Strohman). Not only are most health problems "polygenic" to some degree, but even the traditional "single gene disorders" are turning out to be molecularly heterogeneous (Holtzman). As the number and variety of different specific mutations that can all cause the same disease increases, so does the challenge of detecting and correcting them all in a patient. Worse yet, the causal complexity works in both ways: even the paradigmatic examples of clean Mendelian "singe gene" disorders, like "recessive" cystic fibrosis and "dominant" Huntington's disease are turning out to be multifactoral enough that carrying one of their (multiple) pathognomic genotypes no longer guarantees that one will experience a problematic clinical syndrome (cf. Tsui; Benjamin).

In other words, genotypes are not turning out to function very well as germs. The complexity of their expression as health problems undermines the confidence with which a clinician can predict the occurrence of severe health problems from a DNA diagnosis. Since genotypic prevention is conceptually committed to a deterministic etiology of specific causation, geno-preventive measures risk making (and acting on) both false negative and false positive prognoses. This means that they also risk intervening unnecessarily in cases that the environmental forces of expression and penetrance would have naturally mitigated.

3. Thirdly, as a consequence of its deterministic assumptions, genotypic prevention cannot help stigmatizing genotypes, and (since they are inseparable) the people whom they mark, as undesirable or pathological in themselves (Markel, Parens, and Asch). This kind of reductionism, reducing personal identities to disvalued health problems and disvalued health problems to one stigmatizing sign, is at the root of much of the social discrimination that people with disabilities must already overcome (Fine and Asch). To have public health authorities endorse genotypic prevention as a goal can only exacerbate these challenges, because it provides a medical sanction for exclusionary attitudes.(Saxton; Kaplan; Faden). The concern is that, if a given genotype carries such a disvalue for health professionals, it would not seem unreasonable for the public to chastise those who avoid screening as "irresponsible reproducers" and hold them accountable for their recklessness by denying them opportunities or services, like medical care for affected offspring (Thompson, et. al).

4. Finally, the ways in which genotypic preventive goals tend to overshadow individual interests also endangers the therapeutic relationship within genetic medicine. To the extent that genetic services programs are evaluated in terms of their success to reducing the incidence of particular genotypes, genetic service providers will inevitably have an stake in seeing that their clients make the "right" reproductive decisions: i.e., decisions not to bear children at risk for genetic disease. This is a pressure that is already creating tension within medical genetics, as the field attempts to accommodate itself to healthcare delivery systems that are managed with societal healthcare costs in mind. For example, there has been a lively debate in the British medical literature about how genetic services should interpret the societal expectation that they will "pay their own way" within the national health budget (Chappelle; Clarke). Genotypic prevention, in other words, imports a professional goal that encourages practitioners to influence the reproductive decisions their clients make, despite their professed respect for the reproductive autonomy of those they serve.

Fortunately, all of these professional ethical risks—the subordination of professional integrity to social ideology, the inappropriate reliance on simplistic science, the professional disvaluing of human minorities, and the willingness to invade the sphere of reproductive privacy on behalf of society's economic interests—are dangers which human geneticists have succumbed to and overcome before (Kevles; Allen). Moreover, they are also the dangers in response to which the contemporary client-centered professional ethic of medical genetics has largely been shaped. In contemplating the future of germ-line gene therapy, it may be helpful to recall how this existing moral tradition handles the question of genotypic prevention, and consider its relevance for public health genetics. Doing so shows that genotypic prevention is not only a dangerous goal for genetic medicine to espouse, it is also completely unnecessary.

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100 Health Tips

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