Much has happened in the years since I wrote much of the previous Chapters, especially in the world of health care, medicine in particular but even more in medical and bio-medical research. The latter, indeed, is substantially responsible for many of the significant changes in clinical practice, diagnosis and prognosis in recent times. On reflection, it remains somewhat unclear to me that these changes, such as they may be, will also alter the moral themes and basic approach of the preceding Chapters. But since so much has in fact happened, it seemed to me only appropriate to include the following reflections on what had come to be known early in the past two decades as the ‘new genetics’ (Zaner 2005, pp. 177–207).

In the late 1950s, the English science fiction writer, James Blish, wrote a charming little novel suggestively entitled, The Seedling Stars and Galactic Cluster (Blish 1957). It had a simple premise, as inventive as it was remarkable for its prescience. Habitable planets for human beings had become premium, for straightforward reasons. Interstellar travel had become routine even as the population had long since burgeoned beyond Earth’s and other planets’ resources. The planets discovered, however, mostly turned out to be fiercely uninhabitable. Making them habitable required immensely complicated, expensive and only rarely effective labor, by means of a process Blish called “terra-forming.” To make a place human-friendly, in these terms, required either transforming that environs and atmosphere, or protecting people from its hazards by special shelters, breathing apparatuses, and the like.

But the science of biology, Blish also postulated, had already undergone a sweeping revolution—the beginnings of which were already apparent when his novel first appeared and, we have since become acutely aware, continues to undergo its consequent transformations, matching if not surpassing the earlier one in physics. In the novel, biological manipulations are routinely done and increasingly designed for population projects focused on the most elementary reproductive life-processes, including cloning and other types of genetic engineering; along the way, medicine had been transformed as well in every respect.

Blish’s tale is delightful. In his imaginative hands, the deliberate, literal re-designing of human individuals by other human individuals is an accomplished fact, bringing about changes which need neither centuries of gradual evolutionary change nor spontaneous mutation, only the ingenuity and sportive inventiveness of highly powerful biomedical scientists possessing ‘the secret of life.’ Such scientists are now avidly in pursuit of ever-new ways to redesign people, especially to enable the settling of populations in otherwise hostile environments—not to mention the extreme hardships of space travel.

Notably, much the same aim was overtly advocated in the 1960s by the Nobel Laureate in genetics, Joshua Lederberg, (cited in Kass 1997, p. 17) and in the late 1970s by two Nobel Laureates, neuroscientist Sir John Eccles (1979) and prominent immunologist Sir Macfarlane Burnett (1978) and first became a reality for complex animal vertebrates in the 1990s by Ian Wilmut and colleagues at the Roslyn Institute in Scotland (Wilmut et al. 1997). What Blish only imagined is already more than a mere promissory note, to the delight or dismay of a host of commentators.

In the early 1990s, another Nobel geneticist, Walter Gilbert, expressly, if with some hyperbole, portrayed just that underlying vision as the “holy grail” of our times. The secret foundations of human life (in the multiple shapes proteins can take) seem now to have come very close within sight. The unraveling, mapping and sequencing of the human genome accomplished in countless projects around the world, Gilbert avered, promises to “put together a sequence that represents…the underlying human structure…our common humanity.” Soon, he was convinced, we’ll be able “to pull a CD out of one’s pocket and say, ‘Here is a human being; it’s me’!” (Gilbert 1992, p. 95).

Thanks to that, the response to the ultimate questions of human life was for such scientists already well on the way to being definitively answered by molecular sciences, especially genetics. What is distinctively ‘human’ either is a matter of genes, or is in the genes, and thus not to be found in the quaint metaphysical quests that moved Plato or Aristotle, Aquinas or Occam, Kant or Heidegger. Something like full circle will then be reached, for at the time of DNA’s discovery shortly after the publication of Blish’s fascinating novel—what a 1961 Life magazine cover declared as the “secret of life,” and which Kurt Vonnegut soon after satirized in his classic novel, Cat’s Cradle (1963). It was then obvious to many (Eccles 1970) that the new genetics was indeed “the holy grail” of science and society. The human genome soon came to be regarded as the secret hiding place of self, indeed of life itself—a notion already perhaps somewhat passé, as there quickly began to be talk of digitizing the entire genome onto ever tinier chips that could then be embedded in any cell—a sort of postmodern covert mole always on call and ready to be pulled out, read and, if need be, cloned.

This motif is historically fascinating as well, for it is of a piece with one of the core convictions in medicine’s long history, as articulated in one or both of two fundamental visions. Ancient physicians were struck by the ways in which the human body and soul could be changed by dietary regimens. The prominent Greek physician in the Roman empire, Claudius Galen, went so far as to assert the need to “clear the path for using bodily factors to elevate man beyond the possibilities of purely moral teaching” (Tempkin 1973, p. 85). Galen’s concern was as much if not more to improve the human condition as it was to treat diseases—and in this was close to Blish’s biologists in his vision. Contrary to Galen’s apparent aims, however, reports from the Genome Project mainly highlight the therapeutic potential of new discoveries while almost always downplaying any such eugenic designs that captivated both the ancients and much of contemporary science fiction.

Walter Gilbert’s colorful way of portraying that visionary theme to the side, it is important to point out that he is hardly alone. Other distinguished scientists, as mentioned, were equally caught up in and have long articulated portions of that genetics vision. Nevertheless, despite the hype and repeated promises of therapy that are invariably part of the frequent announcements about new genetics’ discoveries, anyone seriously considering these and related issues is well-advised to bear prominently in mind that “haunting memory—that most of the world still consists of things and creatures that neither scientists nor social theorists had any hand in making” (Winner 2005).¹ That, and the apparent need to be reminded of the not always agreeable record of some technological projects—one need not go much beyond that of nuclear power to fuel our modern age’s incessant appetite for the always more and ever new, while pretty much ignoring and evading essential questions such as the disposal of the inevitable toxic wastes. Not to mention the uneasiness we feel when attending carefully to the record of disasters and abuses that is so much a part of the recent history of bio-medical research—the radiation experiments first publicly disclosed by Representative Edward J. Markey (D., Mass) in 1986,² the syphilis experiments at Tuskegee, (Jones 1981) or the many questionable ones highlighted by Beecher (1959, 1966) and others (Howard-Jones 1982; Curran 1982; Annas and Grodin 1992).

How can we make sense of this? An indirection will be useful.

In Simon Mawer’s engaging novel, Mendel’s Dwarf, (Mawer 1998)³ the principal character is Dr. Benedict Lambert, who is a world-renowned geneticist, the great-great-great nephew of the justly famous monk and geneticist, Gregor Mendel, and a dwarf (achondroplasia).⁴ Whether as a professional delivering a scientific lecture, a student sitting in a college class, or simply as a citizen walking the streets of a city, Ben is said to be made acutely aware of himself by phenotypically normal people who invariably gawk at him, no matter where he happens to be.

After his much-anticipated lecture that opens Mawer’s novel—invited by the Mendel Symposium at the Masaryk University of Brno to celebrate the life and work of his great-great-great uncle Gregor—the secretary of the association greets Ben and, this “large and quivering mountain of concerned flesh,” as Ben calls him, says, “Gee, Ben, that’s wonderful. So brave, so brave….” (p. 5) At which Ben thinks to himself: “Brave. That was the word of the moment. But I’d told Jean [his lady-love] often enough. In order to be brave, you’ve got to have a choice.” (p. 5) And, of course, choice about his dwarfism was what he never had. Rather, like the rest of us, he had only that “tyranny of chance” when just one of the countless spermatozoa from his father’s erupting orgasm was subtly and successfully attracted to, then penetrated his mother’s ovum and, shedding its tail, managed to impregnate and fertilize—those magic moments of entrance, penetrance, implantation and conception thanks to which a specific child, Ben, is conceived, borne by his mother, and later born into the world.

Later, when the headmaster of his elementary school remarks, after Ben suffers a typical round of teasing from his classmates (“Mendel, Mendel, Mendel’s dwarf”), “it’s a problem you have to live with.” He then objects silently to himself: achondroplasia is not like premature baldness, a birthmark, or a stutter, “it is me. There is no other” (p. 21).

At one point, Mawer has Ben excitedly announce how he loves Dinah—the first girl he’s ever kissed (rather: “she kissed me!”)—after he helped her get through a genetics class. Declaring his love, and, despite his help, she dismisses him with a flip, “thanks everso,” and a final “it can’t be.” He then replies, “I’ll say it for you: you can’t love me because I’m hideous and deformed, a freak of nature, and people would stare…You can say this: ‘I would love you if you weren’t a shrunken monster’” (p. 52).

He goes on later in his life to have a highly successful career in human genetics, and was invited to be the Mendel Society’s honored speaker at the Brno Conference, not because of his kinship with Father Mendel, but rather because he had identified the achondroplasia gene, the very gene whose flawed working (or whose correct working with an incorrectly ‘spelled’ gene) resulted in the dwarf, Ben. When his results became public, the media took a shine to him; a major newspaper reported on the discovery, with the headline: “Dwarf Biologist Discovers Himself.” His sister telephoned him to tell him about it, reading the text of the report to him: “Super geneticist Ben Lambert has finished his search of a lifetime. Genetic engineering techniques and years of patience have finally led him to discover the gene that has ruled his own existence, for Ben, thirty-eight and a researcher at one of the world’s leading genetics laboratories, is…a dwarf. Little in body but big in spirit….,” as the new media darling reported (pp. 242–3).

It is clearly awkward at best to contemplate Ben’s condition from the perspective of medicine in its traditional emphasis on restoring body functions and organic processes lost by illness or injury, or compromised by congenital or genetic condition. In the first place, though severely compromised by being a dwarf, he isn’t sick in any conventional sense operative in this tradition. Even while shunned in multiple ways by other people, he is also a genius—and in this respect, he enjoys a privilege of place and the admiration of other people and of colleagues, especially among those in restorative medicine (Zaner 2001a, b). Despite that, as a dwarf he is beyond the limits of restorative medicine, outside its purview, unless he is sick in a conventional sense (flu, pneumonia, cancer, etc.). If the dwarf is outside the conventional and the customary, and if clinical, restorative medicine can do nothing for his condition as a dwarf, what exactly is he in conventional terms?

As he knows intimately, being outside the usual and the routine means that he is phenotypically abnormal—despite its having resulted from the “tyranny of chance” of disfiguring achondroplasia (though, of course, we are all so configured, if not abnormal and dis-figured, by chance’s tyranny). As Mawer remarks about Ben, he may be “hideous, deformed, a freak of nature…a shrunken monster,” but he is neither “sick” nor “injured.” In this sense, geeks and freaks, dwarfs and hybrids, and other genetically or congenitally disfigured individuals, are socially constructed by ‘phenotypically normal’ people as beyond repair and thus fit mainly for carnivals and back-street sideshows. Medicine’s restorative approach to illness and injury cannot bring such freaks and hybrids back even approximately to accepted norms, social or other. A dwarf may be puckish, an imp, or a good fellow, while another may be a rogue and a cad, but all of them are beyond the social limits due to the “tyranny of chance” of their births and how “the others” construe that.⁵

As I noted, Ben can be restoratively treated: if he gets the flue, renal disease, cancer, or any of the many diseases which can afflict any human being, he is then for the most part just like any of us normals. But when he is not conventionally ill the reasonable and even required thing for the restorative physician to do about Ben is to stand back from him, trying (most often unsuccessfully, as Ben learns) not to judge his condition as abnormal—precisely his normal condition.

Most of us sense the frustration of being unable to do anything to change things for someone like Ben. We sense as well the injustice in our social values that work so powerfully and severely to circumscribe his life. And there is a cutting irony: Ben is himself a renowned geneticist, the descendant of Gregor Mendel—also a geneticist—and Ben has succeeded in identifying the ‘dwarf gene.’ Indeed, using rDNA techniques, Ben is even capable of splicing the achondroplasia gene out of his and Jean’s resulting embryo—or, as happens in the novel, of choosing to implant either that, or an unaffected embryo into Jean’s uterus.

Ben thus knows well the sharp edges of the new genetics. After delivering his speech to the Mendel Society, he meanders through the tiny village where his great-great-great uncle had worked, and reflects: “This acre of space was where it all started, where the stubborn friar lit a fuse that burned unnoticed for thirty-five years until they discovered his work in 1900 and the bomb finally exploded. The explosion is going on still. It engulfed me from the moment of my conception. Perhaps it will engulf us all eventually” (p. 10).

To be sure, there is still a kind of limit: it remains true that nothing can be done at the moment to change Ben’s body into a phenotypically normal one. What’s already happened cannot be altered—at least in his case, at least not yet. In other cases (cystic fibrosis, breast cancer, and others), the same techniques Ben uses to discover his gene and later uses for his and Jean’s embryos, can now be used with very different aims in mind—even, it may be, for the fully formed child or adult. At least, that is part of the promissory note of the unraveling of the genome, the location and functional identification of each gene.

The implications of this are remarkable. Rather than being beyond the limit or norm, much of the sort of human affliction hitherto outside medicine seems now capable of being brought inside. I mean: not even the gnarled body of an achondroplastic dwarf, in the end, is any longer—as within traditional restorative or curative medicine it had to be—thought to be beyond the pale, no more than, say, is the neural regeneration of a quadriplegic’s spine. Where the traditional view of medicine put in place the long-standing, still-viable endeavor of restoration, that approach and its limitations are now being challenged and potentially changed, decisively. Beneath the awesome potency that haunts the phenomenon of human cloning lies this astounding possibility, this fundamental shift in what medicine, disease, and health have long been thought to be all about.

This is not just unparalleled but may seem appalling. Thinking about just these matters, the science historian, Hans-Jörg Rheinberger⁶ concludes that a “new medical paradigm: molecular medicine,” (Rheinberger 1995)⁷ already ongoing for the past century, has more fully blossomed over the past several decades and is well on its apparently unstoppable way to take over the entire garden. He insists, however, that there is a fundamental scandal at the core of this new paradigm, very much like what Claude Lévi-Straus diagnosed as the core of the incest taboo (Lévi-Straus 1967, p. 10). Rheinberger notes (p. 258) Jacques Derrida’s (1978, pp. 278–93) observation that this taboo is right at the edges of, if not actually within the “domain of the unthinkable,” for it challenges the very thing that makes possible the distinction and opposition between “nature” and “culture.” That distinction, Derrida had contended, has for centuries been at the heart of philosophy and theoretical thinking generally. Thus, the very possibility of philosophical conceptualization itself has come under severe threat, if not actual collapse, as that distinction loses its sense in the presence of this scandal.

Lévi-Straus had argued, “everything that is universal in man belongs to the order of nature and is characterized by spontaneity, and that everything bond to norms belongs to culture and is…relative and…particular.” From this, he then identified the epitome of scandal, “the incest prohibition,” which, he thought, “escapes any norm that…distinguishes between… culture and nature. It leaves in the realm of the unthinkable what has made it possible” (p. 258).

Although he has far more subtle issues in view that I must ignore here, Derrida emphasizes that the taboo exists solely within a context that accepted the opposition between nature and culture. The fact is, he says, the scandal is “something which no longer tolerates the nature/culture opposition he has accepted,” (p. 283) and thus renders “unthinkable” what was earlier believed to be “thinkable”—and thereby both philosophy and science become deeply problematic.

In just the way that the incest taboo is scandalous, Rheinberger is convinced there is also a scandal at the heart of the “new medicine.” We may catch a glimpse of what he has in mind if we think about a key feature of biomedical science when conducting research involving human subjects: informed consent. If medicine’s very point is to help sick, compromised people who cannot help themselves—people who for those very reasons are multiply disadvantaged and at their most vulnerable—how could there ever be any question about informing people and ensuring that nobody takes advantage of them? Why require what on the other hand seems perfectly obvious? Yet, just that doctrine has become a centerpiece of medicine and biomedicine—not only in research but in daily clinical practice as well.

In both cases, there would be no need either for a taboo (in the case of incest), or the legal requirement for informed consent (in the case of human subjects research). If vulnerable patient-subjects were not abused in some manner in the first place, the demand to obtain informed consent would be pointless—as would a taboo on incest, if no parent or sibling engaged in sexual activity with child or sibling. Just as incest seems but barely capable of being spoken or even thought, so is it scandalous that otherwise decent people who are researchers (not simply those who were Nazis) must be subject to the rule of informed consent—as if they could not be trusted. Distrust seems, indeed, to precede either taboo or human research.

Rheinberger is in any event very clear about what he think is as scandalous as the incest taboo:

With the acceleration of a historical, irreversible alteration of the earth’s surface and atmosphere, which is taking place within the span of an individual human’s lifetime; with the realization that our mankindly, science-guided actions result, on a scale of natural history, in the mass extinction of species, in a global climatic change, and in gene technology that has the potential to change our genetic constitution, a fundamental alteration in the representation of nature is taking place, which we are still barely realizing. (p. 260)

To be sure, therapeutic discovery and diagnosis continue to occupy the limelight of human genetics research—even with its newly acquired name, genomics—with actual treatments and understanding lagging behind.⁸ Nonetheless, the regularly used discourse about (and often, presumable justifications for) genetics projects, and probable future reality of genomics, is that clinical practice will be totally transformed as new genetic knowledge leads eventually to effective treatment modalities. With that eventuality, a wholly new meaning of ‘health’ must shortly follow: more a matter of healthy genes (with the ability to keep them healthy) than of the absence of health or the workings of some pathological process or entity.

At this point, it seems to me necessary to take a few cautious steps of my own into the seemingly unforgiving unthinkable.

(a) In traditional, restorative medicine, there is nothing that can be done for Ben’s condition. If he is injured or becomes ill, of course, as much can be done for him as for any other—taking into account that his condition may itself require one or another regimen. While changes of social attitudes and acceptance, along with support to pursue accepted goals or careers, even if not done or not done well by those who meet or know such dwarfs, can be recommended, they are plainly sufficiently rare as to prompt some cynicism.

But is this sort of encouragement even medicine’s business? Should physicians be involved with or even concerned about the mistreatment Ben regularly receives? Doesn’t this sort of thing fall to others—social workers, ministers, rabbis, or therapists? In the end, why should any of us be much concerned about dwarfs like Ben? After all, what we were born with is neither more nor less thanks to chance than is Ben’s condition. For that matter and unlike most of us, Ben is a famous scientist who achieves an appointment to a famous institute. What need does he have for anything from medicine or the rest of us? If he is singled out for special consideration, doesn’t this simply defeat the very purpose for special consideration?

What is novel about molecular biology and genetics is that very little, perhaps nothing will again be regarded as automatically beyond the social or medical pale. Everything, in short, formerly beyond the limit may soon be up for review, new study-designs, and possible if not yet probable reversal, correction, even replacement if need be. At the heart of this vision, it seems, we ought not fear being on a slippery slope, but should instead welcome, even relish the novel vistas, prospects and exhilarating ride—which are potent indeed.

(b) In Mawer’s novel, Dinah is deeply ambivalent toward Ben, at once attracted and grateful, yet repelled—not unlike many others of us when we are in the company of the likes of Ben—who, on the other hand, is not only extremely nice to Dinah but goes out of his way to help her get through the genetics class. Why then are the Bens of the world so disturbing? Dinah is beside herself when she passes the course, spontaneously kisses him, then promptly tries to take it back. Befuddled, yet on fire and riveted by “she kissed me!,” Ben tells her he loves her, and her response? “I knew you’d do this…can’t you see it’s impossible?” to which Mawer has Ben reply: “Of course it’s impossible. It’s the impossible that attracts me. When you’re like I am, who gives a toss about the possible?” (Mawer, p. 52) He then says what she cannot bring herself to say, that he is “hideous and deformed, a freak of nature, and people would stare.” As if the rest of us were not chance creatures of accidental genetic fusions as Ben or other dwarfs!

There is at just this point something still left unsaid, unspoken, perhaps even unthinkable even as Ben himself tries to think and say it—or, perhaps, it can be spoken only because the one who is unspeakable, Ben the dwarf, says it for her. Why, we must wonder, is it so hard for her to say what she actually thinks, and to say it directly to Ben? Isn’t utter honesty called for? Why would it be difficult for any of us to say it to someone like Ben? Why do we hesitate, when on the other hand what is unsaid is if anything utterly decisive for what we then think about and how we act toward Ben the dwarf?

(c) When discussing using human subjects for research in 1865, the famous scientist, Claude Bernard, did not mention nor did he presumably intend to mention anything like informed consent. He wrote, rather:

It is our duty and our right to perform an experiment on man whenever it can save his life, cure him, or gain him some personal benefit. The principle of medical and surgical morality, therefore, consists in never performing on man an experiment which might be harmful to him to any extent, even though the results might be highly advantageous to science, i.e. to the health of others. (in Katz 1992, p. 229)

Commenting on this passage, Jay Katz notes “that Bernard spoke about ‘our duty’ and ‘our right’; he said nothing about research subjects’ consent,” much less their ‘duty’ or ‘rights’. And, continuing to reflect on this remarkable passage, Katz seems taken aback by his realization that

One question has not been thoroughly analyzed to this day: When may investigators, actively or by acquiescence, expose human beings to harm in order to seek benefits for them, for others, or for society as a whole? If one peruses the literature with this question in mind, one soon learns that no searching general justifications for involving any human beings as subjects for research have ever been formulated…. Instead, in the past and even now, it has been assumed without question that the general necessity for experimenting with human beings, while requiring regulation, is so obvious that it need not be justified…. I do not contend that it cannot be justified. I only wish to point to the pervasive silence…and, more specifically, to the lack of separate justifications for novel interventions employed for the benefit of future patients and science, in contrast to those employed for patients’ direct benefits. (Katz 1992, p. 231)

At the heart of this, Katz says, is “a slippery slope of engineering consent,” one that leads “inexorably to Tuskegee, the Jewish Chronic Disease Hospital in Brooklyn, LSD experiments in Manhattan, DES experiments in Chicago”—and many, many others might be added—all of which are “done in the belief that physician-scientists can be trusted to safeguard the physical integrity of their subjects” (Katz 1992, p. 231). As the former editor of the New England Journal of Medicine, Franz Ingelfinger, once insisted: “The subject’s only real protection, the public as well as the medical profession must recognize, depends on the conscience and compassion of the investigator and his peers” (Ingelfinger 1972).

It might be said, of course, that the physician-scientists involved in these events, like those who conducted the experiments in the Nazi concentration camps, the Gulag Archipelago, Willowbrook, or others were perverse or even evil persons. Science and medicine are value-neutral; they are “intrinsically benign,” it might be said; (Weissmann 1982) evil actions stem not from science but from individuals who are evil, or who do evil things, because of the ways they use science and medicine. To suggest otherwise, Katz verges on saying, would be to court something scandalous—if not unspeakable or unthinkable, then surely repugnant, and that would be something awful, appalling even, quite as much as engaging in an act of incest.