Gene Therapy: the Danger of Enhancement

Ryan Troyer
November 25, 1996
Biology Senior Seminar



Outline

Thesis: Ethical guidelines for gene therapy must be established which emphasize medical uses over uses for human enhancement.

I. Introduction

II. Concepts of Gene Therapy

	A. Background information: what is gene therapy? 
		1. Genetic transfer of foreign DNA
		2. Vectors
		3. Types of gene therapy
	B. Current efficacy of gene therapy and progress in research
		1. A hot medical field, but no clinical efficacy thus far
		2. The difficulty of vectors
		3. Gene therapy's potential

III. The Need for Ethical Analysis of Enhancement Gene Therapy

	A. The primary ethical line should not be drawn at germ-line therapy
		1. Arguments against germ-line therapy
		2. If scientific problems are solved, germ-line therapy will
			hold good possibilites for medicine
	B. Enhancement therapy is a destructive use of gene therapy
		1. Enhancement
			a. Eugenics
			b. Feasibility
		2. Arguments in favor of enhancement
		3. Implications for society
			a. Genetic discrimination
			b. Pressure to use gene therapy
			c. Who gets the genes?
		4. Concerns of medical risk
	C. Public perceptions of gene therapy and DNA
	D. Ethical guidelines will clear the way for medical gene therapy
		1. Altering the direction of research in a positive way
		2. Effective lines may be drawn

IV. Drawing the Line: 'Medical' and 'Enhancement' Uses
	A. Definitions of disease and medicine
		1. What conditions warrant gene therapy?
		2. Modern medicine's model of disease
	B. Establishment of ethical guidelines
		1. A guiding principle: beneficience
		2. RAC should lead the way

V. Conclusion




I. Introduction

Gene therapy has the potential to revolutionize modern medicine. The techniques of gene therapy are still in their infancy as medical treatments and there are still many problems which must be solved before gene therapy will live up to its potential. However, it is very likely that gene therapy will become a reality at some point in the future and when that time comes, the ethical questions surrounding gene therapy will be pushed to the forefront of medicine. Science may find a way to reduce the risks associated with gene therapy but science alone cannot eliminate the serious ethical and societal risks which gene therapy brings to bear on the world. We need to put people's fear about the dangers of altering the genetic makeup of human beings to rest by establishing ethical principles which clear the way for advancement in medical therapy. Ethical guidelines for gene therapy must be established which emphasize medical uses over uses for human enhancement.

II. Concepts of Gene Therapy

Gene therapy involves the transfer of genetic material into the cells of an organism in order to cause a specific protein to be produced or in order to cease the production of a specific protein. This procedure usually involves transferring a specific gene into host cells to be incorporated into the chromosomal DNA of the host and later to be expressed. However, according to Dorothy Bonn, the future of gene therapy may also include the use of antisense DNA strands to disrupt expression of a gene or the use of homologous recombination to alter host DNA (1996). In medical terms Jeffrey Leiden, M.D. (1995) defines gene therapy as, "the introduction and expression of recombinant genes in cells for the purpose of treating a disease" (p. 871).

In order to transfer foreign genes into a cell, a vector is necessary. Currently, modified viruses, liposomes and bacteria are being employed as vectors for gene transfer with viruses being by far the most commonly used (Bonn, 1996). According to Craig Donegan, there are three basic methods of delivery: the ex vivo method transfers DNA to cells extracted from the patient and reinjects those cells, the in vivo method injects vectors into the bloodstream to seek and bind targeted cells, and the in situ method injects vectors directly into the affected tissue (1995).

We currently group types of gene therapy by the nature of the cells which are affected and the goal of the therapy. Nelson Wivel, director of the Office of Recombinant DNA Activities at the National Institutes of Health (NIH), and Georgetown University professor of philosophy and ethics Leroy Walters (1993) group types of gene therapy into three categories: type 1 is gene therapy which affects only non-reproductive or somatic cells, type 2 is gene therapy which involves gene transfer to reproductive or germ-line cells, types 3 and 4 are the use of somatic and germ-line modifications respectively to "affect selected physical and mental characteristics with the aim of influencing physical appearance or abilities" - enhancement therapy (p. 533). In the U.S., the Recombinant DNA Advisory Committee (RAC) at NIH oversees research and clinical trials of gene therapy. At present the RAC permits many somatic cell therapy trials but does not permit germ-line therapy trials.

Gene therapy is an extremely hot field in medical technology right now with NIH spending $200 million per year on research and clinical trials and private industry spending about the same amount according to Eliot Marshall (1995). Progress in gene therapy research has been steady but no method of gene therapy on humans has yet proven effective. The field took off in 1980 when it was demonstrated that direct injection of foreign genes into the nucleus of a mouse egg resulted in the integration and retention of the injected genes in the newborn animal (Wivel and Walters, 1993). Since that discovery, the understanding of the molecular mechanisms involved in gene therapy has increased greatly and gene therapy has been shown to be relatively effective in many animal trials. Some researchers have made claims of great success in human gene therapy in order to lure biotech investors or to receive large funding grants. However, an NIH panel in 1995 stated, "clinical efficacy has not been definitely demonstrated at this time in any gene therapy protocol despite anecdotal claims of successful therapy" (Marshall, 1995, p. 1751). In a highly-hyped recent clinical trial, boys with Duchenne's muscular dystrophy were treated ex vivo but the transformed myoblasts used showed little or no persistence in the boys, let alone any corrective function (Leiden, 1995).

The primary difficulty with gene therapy has been finding effective vectors for the transfer of genes to target cells. A great deal of current research is being done to find effective vectors. Andy Coghlan notes that one example is that researchers are working on using transposons or 'jumping genes' to modify viruses so that corrective genes may insert at 'safe' locations in chromosomes (1995). The over-hyped, often ill-advised early clinical trials paint a desperate picture of gene therapy but the truth is that it is highly likely gene therapy will be a reality at some point in the not-so-distant future. Dr. Ronald Crystal of Cornell University Medical College states, "The logic behind gene therapy is so compelling, the science so deep, there is no question it is going to work." (Begley, 1995, p. 62).

The future may indeed hold great uses for gene therapy which could rival other past medical innovations such as the discovery of penicillin in importance. Gene therapy has the possibility of curing inherited genetic disorders such as Huntington's disease and cystic fibrosis, acquired diseases such as AIDS, and even a disease as complex and prevalent as cancer. The potential power of this new therapy necessitates the consideration of ethical issues surrounding its use.

III. The Need for Ethical Analysis of Enhancement Gene Therapy

The vast majority of the ethical consideration surrounding gene therapy has centered on germ-line therapy. In 1992, according to Coghlan (1996), a government advisory committee recommended that germ-line therapy not be attempted because of "insufficient knowledge to evaluate the risks to future generations." (p. 14). Indeed the RAC has banned trials of germ-line therapy.

However, the primary arguments against the use of germ-line therapy involve scientific problems with the technique rather than societal implications of its use. Genes such as the gene for sickle cell anemia, which also confers malaria resistance, could be wiped out before their role is completely understood (Coghlan, 1996). In this way, human biodiversity could be threatened. Also, gene replacement would be needed rather than gene addition because a mixture of regulatory signals from normal and mutated genes would produce unpredictable effects on growth and development (Wivel and Walters, 1993). Admittedly, there are those who argue that by altering the germ-line we would be violating the "sacred" nature of reproduction but Wivel and Walters (1993) point out that germ-line gene therapy directly fits into the "therapeutic continuum" of modern medicine which includes such treatments as giving chemicals to a fetus to activate dormant genes (p. 536).

Truly there are many valid scientific concerns surrounding germ-line therapy but scientific problems are of the type which by definition may be solved. Henry Miller suggests that possibly gene therapy could be put under positive control and thus be inducible rather than permanent (1994). It may be possible for a protocol to be established with gene replacement in which no insertional mutagenesis occurs along with few side effects. Even with some side effects, germ-line gene therapy could be useful in extreme cases of disease such as those which cause the early death of children. In these cases, somatic cell therapy would likely be ineffective and limited side effects might be deemed acceptable in order to save the child's life. Examples of diseases which would fit this category are Tay-Sachs and Lesch-Nyhan syndrome (Coghlan, 1996). Even with the risk of side-effects which might not show up in the patient for years, germ-line therapy may be judged worthy of that risk in cases of therapy for fatal diseases. Genetic diseases affect only two percent of live births and among those very few are serious fatal conditions, thus the danger of large-scale effects on the gene pool is minimal (Wivel and Walters, 1993).

Much more scientific knowledge about gene therapy is necessary before germ-line therapy could become a reasonable possibility. However, drawing the primary ethical line for gene therapy at germ-line therapy ignores the real ethical danger of gene therapy: its use for the purpose of human enhancement. The true danger of germ-line therapy is that it might be used to produce genetically enhanced 'designer' people but this same danger of enhancement exists also in the realm of somatic cell therapy. Thus, the RAC should be much more concerned with defining the use of gene therapy for enhancement as unethical and detrimental to the medical possibilities for gene therapy rather than attempting to draw a line at germ-line therapy.

What is meant by 'enhancement' gene therapy? Gene therapy for the purpose of enhancement simply signifies the use of gene therapy to alter a medically normal person physically (including mental capacity) in a way which is thought to be an improvement. Thus, it falls under the category of eugenics - improving human character through genetic manipulations. The idea of eugenics is not new. As noted by Rebecca Voelker, nineteenth century British scientist Francis Galton founded a 'eugenics movement' with the idea of 'improving' humans through selective breeding (1993).

Realistically, gene therapy for enhancement is not feasible with our current level of understanding. However, advances in gene therapy techniques will almost undoubtedly bring the possibility for enhancement to bear on society. Some examples of possibilities for genetic enhancement which may first become possible include genes coding for an appetite suppressant hormone, anti-baldness hormone, a brain chemical enhancing memory, growth hormone, and resistance to industrial toxins (Miller, 1994). One can easily imagine these possibilites becoming reality but many other more extreme possibilities may certainly exist.

Arguments in favor of the use of gene therapy for enhancement center around personal autonomy and individual choice. Indeed we live in a pluralistic democratic Western society which highly prizes the individual. Some view gene therapy for enhancement on a long continuum of treatments which has grown to give people more freedom and control over their lives. Henry Miller (1994) asks, "On what scientific, legal, or ethical basis should [somatic gene therapy for enhancement] be subjected to a higher standard then liposuction, radial keratotomy, or the application of permanent makeup by tattooing?" (p. 317). Miller claims that people have a right to make what they want of their lives and so they should have a right to increase their mental powers with extra neurotransmitters, or change hair and skin color, run faster and lift heavier weights (1994).

The answer to Miller's call for autonomy must be that we cannot view the altering of human genes as a solely personal decision. Leading scientists in gene therapy certainly recognize this fact. Wivel and Walters (1993) state, "The human gene pool is a joint possession belonging to all members of the human species" (p. 536). W. French Anderson, M.D. (1991), leading scientist in the area of gene therapy, believes that enhancement degrades the human species. He points out that gene therapy becomes bad "when it detracts from, rather than contributes to, the dignity of [humans]." (p. 685). Whether one views this issue from a theological or humanist point of view, gene therapy for enhancement is a threat to human values which we feel are important to the dignity of humans.

The primary 'value' of which Anderson speaks, that enhancement therapy would violate, is the value of social justice. Our society has become one in which people place a great deal of value on genetics. Genetic testing is now commonplace and many claim that genetic discrimination is already occurring. Wendy McGoodwin of the Council for Responsible Genetics notes that insurers have sought genetic information on persons who want health or life insurance and employers have used genetic data to look for liabilities in prospective employees (Donegan, 1995). This is clearly discrimination against healthy people with suspect genes. The most famous example of this kind is certainly the 1970's discrimination against African Americans carrying the sickle cell anemia gene by employers and insurers (Voelker, 1993). In this social climate, the ability to 'improve' one's genetic makeup would certainly perpetuate and increase the focus on genes as a means to discriminate. As more genes are located, this discrimination would intensify. NIH researcher Dean Hamer claims to have found a 'gay gene' and already there is talk of 'corrective measures' (Donegan, 1995).

With this intense focus on genetics, the pressure to use gene therapy would be immense. Miller claims that restricting enhancement would threaten autonomy. However, autonomy is challenged a greater way when intense pressure exists to receive gene therapy. In order to survive in an enhanced society, one would need to keep up with the level of enhancement competitors for school admissions or jobs. Coghlan cites two negative results of this type of pressure: a significant reduction in the size of the human gene pool and a huge 'black market' of genetic enhancement (1996).

With medical gene therapy, the person in need is given therapy based on medical need, but with enhancement gene therapy who gets the genes? Those with the most urgent need? Those most able to benefit society? Those able to pay for it? Enhancement, not falling within the medical realm, would likely be a treatment for sale to those who could afford it. John Habgood, the Archbishop of York, stated in reference to this problem, "People who are less than perfect would be steadily more disadvantaged, and this would tend to push people further into the realm of the unacceptable." (Coghlan, 1996, p. 14).

Using gene therapy with possibly unforeseen ill side-effects is a risk that may be worth taking in the case of a life-threatening or very serious disease, however, the use of this technology for enhancement warrants more serious consideration of the amount of scientific non-knowledge present. Is the possibility of the activation of an oncogene or the inactivation of tumor suppressors worthy of the risk? Wivel and Walters point out that subtle adverse effects on the brain may not be detected in animal models or noticed in patients for decades (1993).

With so many adverse possibilities for gene therapy, it is no wonder that much of the general public has a negative view of gene therapy in general. Dorothy Nelkin (1996) notes that a large part of this belief is also due to scientists' use of religious imagery to convince people of the power of genes and subsequently the importance of their research - calling DNA the "holy grail" of biology, the "stuff of life" or the "master genetic code" (p. 24). Some Christian journalists also write about DNA as something which in itself has spiritual importance (Nelkin, 1996). Even in the secular world, DNA is often assigned a value equal to the core of our 'humanness.' It is true that using DNA for the purpose of enhancing people is likely not consistent with Christianity or secular humanism (an explanation of which is outside the scope of this paper). However, as John Fletcher (1985) pointed out a decade ago, an approach to disease treatment with DNA is not different from using other human products such as "blood, organs, hormones and bone marrow" in therapy (p. 301).

These ideas create a culture in which people are afraid of gene therapy. Much of this fear is warranted because of enhancement technology. Thus in order to promote a more educated culture ready to accept medical gene therapy, we must prevent applied research which has enhancement technology as its goal. As ethicist Hans Jonas says, "not only have the boundaries between theory and practice become blurred, but ... the two are now fused in the very heart of science itself, so that the ancient alibi of pure theory and with it the moral immunity it provided no longer hold." (Wright, 1989, p. 183). Donegan (1995) points out that in an open market in the $200 million per year gene therapy industry, "there will be more scientists working on male pattern baldness than sickle-cell anemia" (p. 1091). This would be a true shame, and that is why restrictions are needed - not to decrease gene therapy research but to aim it in a positive direction. Richard Wright (1989) states, "It is possible to develop biotechnologies that will bring help to those who need it most - the poor, those in Third World countries who suffer from hunger, parasites, and diseases. Is there any hope that these will be the priorities of a profit-motivated biotech industry?" (p. 218).

Many argue that effective lines can not be drawn between gene therapy for medical reasons and gene therapy for enhancement purposes. However, as Fletcher points out, meaningful moral lines between acceptable and unacceptable research and clinical practices have emerged over the past forty years (1985). We are currently in the process of drawing meaningful lines on terminal illness and there are certainly enough people with training in medical ethics to begin meaningful dialogue on this issue. Still others argue that legislation of morality is unjust in our pluralistic society. However, as previously stated, the use of gene therapy affects not only the individual, but all of society. Wright (1989) notes that government should legislate morality on matters dealing with "public justice and the social order" (p. 190).

IV. Drawing the Line: 'Medical' and 'Enhancement' Uses

If a line is to be drawn between 'medical' and 'enhancement' uses of gene therapy, these terms must be defined. What shall we define as a disorder worthy of medical attention? Miller asks the following question: is obesity a serious disorder at triple ideal body weight, thirty percent above ideal weight, or anything above the ideal? (1994). What about 'disorders' such as myopia, color-blindness, and left handedness? (Fletcher, 1985). Is skin color a disorder which needs medical attention?

In order to find a definition for which genetic conditions are worthy of medical attention, we must first recognize the way in which contemporary medicine looks at genetic disorder. Wright (1989) states that in our model of modern medicine, "Health constitutes the freedom from disease, pain, or defect; the normal human condition is health." (p. 186). This generates unreal expectations of health when 'normal' life "excludes headaches, tensions, depression, deformity, and the like" (p. 186). Even death is considered abnormal. When one puts genetics into this context, essentially any genetic variation which society does not view as 'healthy' is automatically abnormal. Also, 'abnormality' may be solely attributed to genetic factors without consideration for the complex interplay between genetics and the environment. However, Rochelle Hirschhorn, M.D., chief of medical genetics at NYU Medical Center, claims that "contemporary medicine is awakening to the fact that everyone has some type of genetic anomaly" (Voelker, 1993, p. 2273). Despite this awakening, the view of genetics as being faulty when one is not perfect is still prevalent. Thus our modern model of medicine does not provide an automatic answer to this question of definitions.

W. French Anderson (1991) defines enhancement genetic engineering as, "the supplying of a specific characteristic that individuals might want for themselves or their children which would not involve the treatment of a disease" (p. 682). This definition of enhancement places emphasis on disease. The Random House Dictionary of the English Language defines 'disease' as "a disordered or incorrectly functioning organ, part, structure, or system of the body resulting from the effects of genetic or developmental errors, infection, poisons, nutritional deficiency or imbalance, toxicity, or unfavorable environmental factors" (1987). Again, this definition of disease really does not clear up the questions posed above of when a treatment for medical reasons becomes one of enhancement.

Some type of guiding principle is needed to draw a line and I believe that this should be the principle of beneficence. It is my opinion that the most meaningful moral distinction between 'enhancement' and 'medical' gene therapy is that 'medical' gene therapy would relieve real suffering while 'enhancement' gene therapy would change characteristics that have little to do with real suffering. Real suffering involves, as Fletcher (1985) says, "morbidity and mortality" (p. 303). A condition which dominates a person's life and is characterized by intense pain or early death should be relieved. The question to be asked of any new potential gene therapy protocol should be: can these improvements be justified on the basis of relief of human suffering? If not, then the technique must be considered as an enhancement use.

I believe that at this point in time, the RAC is in the best position to create policy against the use of gene therapy for enhancement purposes. This would set a standard for research and technology in the U.S. which would promote the development of positive uses of gene therapy. Abbey Meyers, or the National Organization for Rare Diseases, points out that it is likely that each country will make its own rules regarding gene therapy as it develops (Coghlan, 1986). Thus enhancement technology may be developed regardless of U.S. resolutions. However, the U.S., as the current world leader in medical research, is in a position to take a stand against the exploitation of gene therapy for enhancement uses.

V. Conclusion

In summary, much current consideration is given to the ethics of germ-line therapy. However, this practice of drawing ethical lines at germ-line therapy avoids questioning the truly ethically dubious possibilities for gene therapy - uses of the technology for human enhancement. Gene therapy for enhancement should not be permitted because it would be extremely unjust and oppressive to society. By drawing a distinct ethical line between medical and enhancement uses, we would eliminate a great deal of the fear which surrounds gene therapy and also aim research interests in a positive direction towards medical goals.



Works Cited

Anderson, W. French. (1991, December). Human gene therapy: Why draw a line? Journal of Medicine and Philosophy, pp. 681-691.

Begley, Sharon. (1995, October 9). Promises, promises. Newsweek, pp. 60-62.

Bonn, Dorothy. (1996, March 23). Prospects for antisense therapy are looking brighter. The Lancet, p. 820.

Coghlan, Andy. (1996, May 14). Hidden costs of a clean inheritance. New Scientist, pp. 14-15.

Coghlan, Andy. (1995, March 18). Jumping genes to pave the way to safer therapy. New Scientist, p. 16.

"Disease." (1987). Random House Dictionary of the English Language 2nd ed.

Donegan, Craig. (1995, December 8). Gene therapy's future: Have scientists gone too far too fast? Congressional Quarterly Researcher, p. 1091.

Fletcher, John C. (1985, August). Ethical issues in gene therapy. Journal of Medicine and Philosophy, pp. 298-307.

Leiden, Jeffrey M. (1995, September 28). Gene therapy - promises and pitfalls." New England Journal of Medicine, pp. 871-872.

Marshall, Eliot. (1995, December 15). Less hype, more biology needed for gene therapy. Science, p. 1751.

Miller, Henry I. (1994, July 30). Gene therapy for enhancement. The Lancet, pp. 316-317.

Nelkin, Dorothy. (1996, May-June). Genetics, god, and sacred DNA. Society, pp. 22- 25.

Voelker, Rebecca. (1993, November 17). The genetic revolution: Despite perfection of elegant techniques, ethical answers still elusive. Journal of the American Medical Association, pp. 2273-2274.

Wivel, Nelson A. and LeRoy Walters. (1993, October 22). Germ-line gene modifications and disease prevention: Some medical and ethical perspectives. Science, pp. 533-538.

Wright, Richard T. (1989). Biology Through the Eyes of Faith. New York: HarperCollins.