Ethical Questions

Implications of the Human Genome Project

Benjamin O'Connor

December 2^nd 1997

STS-011 assignment #3

"The main conclusion arrived at in this work... will, I regret to think, be highly distasteful to many persons.... But we are not here concerned with hopes and fears, only with the truth as far as our reason allows us to discover it."

From Charles Darwin, The Descent of Man

Proposal of ethical research ideas to the ELSI committee

For about twenty years now, genetic manipulation has been a scientific reality. Throughout its existence, the field has also been, understandably, the subject of nearly limitless controversy. This controversy exists today not only among the general public, but also among scientists and scientific communities particularly on the subject of human genetic research. Although the human genome project may appear on its surface to be a rather "passive" research undertaking, its ethical consequences must be further studied and understood. Understanding the intricate workings of human DNA and genetic interactions will produce a myriad of effects other than an innocent, passive, genetic map and sequence. Knowing the workings of human DNA and the ability to manipulate it can lead to tremendous societal impact. We need to further study the ethical implications of the genome project on the non-scientific public, potential effects on society as a whole, and the general "bio-evolutionary" effects on the human race.

As more advanced genetic topics begin to enter into the basic biology classes of most students, public awareness and knowledge increases and will continue to do so. For example, the U.S. Air Force Academy High School, a public high school located at the Air Force Academy in Colorado has been teaching a genetic engineering course since 1981. According to the school's home page, "The Genetic Engineering course is a full, yearlong course that is devoted to laboratory research in plant tissue culture and recombinant DNA." (http://www.kadets.d20.co.edu/~lundberg/index.html, Air Academy H.S.) This class covers such advanced topics as gel electrophoresis, plasmid isolations, general use of restriction enzymes, gene isolation and expression, and other recombinant DNA techniques. Most interesting, and important, of all is the fact that the class spends more than three weeks studying the ethical issues and dilemmas surrounding these topics. This kind of high school course is, unfortunately, not yet as common as it should be, and it is quite clear in the mainstream public that a general mystique and reverence in some cases still surrounds the theories and practices of genetics.

The truth is that most people don't even know what a "genome" is, much less why large amounts of money is being expended in a large-scale, worldwide effort to sequence and map human DNA. The tremendous controversy surrounding the now infamous "sheep cloning" experiment was fueled by misconception. Cloning has always had a generally bad connotation and seems to be surrounded by an aura of unspeakable evil. Volumes of technophobic science fiction, such as Huxley's Brave New World, deal with the predicted ills of genetic recombination and cloning. People's attitudes towards these experiments and this research need to be studied extensively.

How can these mappings and sequencing benefit the world when only a small, educated, class of people know what it is? We need to study the role of the uneducated, lay person in this research, and more importantly the results of the project. It is important to look very closely at the reasons behind those opposing the project itself, and just as importantly those concerned with the possible effects of the project. The committee needs to make sure that ethical concerns are at least brought to light within the scientific community and seriously discussed.

Not only do I have concerns about the benefits of this project not ever being extended to the uneducated masses, but I also worry about the unbalanced and perhaps deleterious effects of unregulated genetic research and knowledge on our society as a whole. Studies need to be done on possible regulation of this technology to investigate the effects of knowing and manipulating human genetic traits on our society structure. Herein lies the source of much apprehension surrounding the ongoing discovery of the human genome.

For the faint of heart, however, the creation of vast computer banks of human concordance stirred not dreams but nightmares -- of designer genes and eugenic ghettoes. "If we are not careful," biotechnology critic Jeremy Rifkin said at the time, "we will find ourselves in a world where the disabled, minorities, and workers will be genetically engineered."

(Allen, Lingua Franca, 29)

The new frontiers of genetic testing are the source for one type of concern. With more knowledge about human genes uncovered by the genome project, more genetic tests are already becoming possible. Who will have these tests available to them in the future? Surely, as it stands now, most people will never be able to pay for some of these tests to determine the health of themselves as well as their offspring. For those who will be able to get these tests, what will they be used for? We seriously need to stop and think about the consequences of widespread genetic testing. There is already a tendency to rush tests out into the commercial market without even knowing the real "meaning" of the test. The breast cancer genes are a relatively good example of this phenomenon. Multiple genes and hundreds of mutations have been found concerning breast cancer and genetics. With little understanding about these complex genetic interactions, genetic testing was promoted on a national scale. As stated in Allen's "Policing the Gene Machine" article, "The great race to unpack the breast cancer gene had led to a virtual crapshoot." (Allen, 31) The tragedy of this rush to create marketable tests and get money out of genetics would be an inaccurate, easily misunderstood testing kit administered by inexperienced and improperly qualified and educated individuals.

Looking at the motivations that lead to this so-called "race" brings up another set of ethical concerns that need to be studied. Like almost no other field of scientific research, corporations, entrepreneurs, and industry have embraced genetic research. From the early beginnings of the field of genetics, the corporate world saw potential and competed to invest in these new technologies. The first reason for this was the possibility of pharmaceutical production by bacteria. With genetic manipulation of bacteria, mass production of human insulin in this way was possible, and that meant a better, cheaper way to produce and sell insulin. Production of Interferon was another target of large investment:

"The prospects for huge new markets appeared particularly impressive for substances that were expensive or difficult to make by other means. Interferon figured prominently in such calculations. Because this substance is made by human cells in extremely small amounts, it had been hard to obtain in pure form and to test clinically… Clearly, investment in research and development for the production of interferon with recombinant DNA was a gamble that could be worth billions of dollars if its potential was realized." (Wright 343)

With increased emphasis on the financial benefits of genetic research, patents were possible, and money was being made. Now, we need to study the ethical concerns that come with large monetary investments in the field, and vested interests in the human genome project. Many concerns arise that are similar to concerns that deal with corporate and financial involvement in any area of scientific research. Concern arises about how much the free flow and exchange of ideas will suffer under such a system. With pharmaceutical corporations anxiously awaiting home marketable "test kits" further research needs to be done first on the effectiveness of such tests, and just who would be qualified to administer them. More importantly, we need to be sure of just who is qualified to interpret the results of these tests.

Another topic that needs to be studied concerning the potential effects of the human genome project is the implications of just what the results of these tests come to mean, and to whom. The general concerns about "genetic discrimination" should be studied. Who gets access to the results of these genetic tests, and who can administer them for what reason are also important questions. Although it may seem far-fetched, once employers begin to mandate genetic testing, or test employees in some clandestine manner, the door is open to widespread genetic discrimination on the basis of possible genetic defects, race, and heredity in general. At the time these concerns were arising in congressional hearings and such, Al Gore, a U.S. Senator at the time was particularly interested in such issues. "It was not an antiscience bias but rather an inchoate discomfiture with the prospects of meddling in something as fundamental as a person's genes." (Cook-Deegan 149) This "inchoate discomfiture" is indeed pervasive. Just ask anybody on the street about genetic manipulation, and what should be done with cloning experiments. The controversies surrounding prenatal diagnosis is yet another area that needs to be studied. The basic fact of the matter is that prenatal diagnosis will lead to abortion -- one of the most controversial issues of our time. These are some of the concerns that led to the founding of the ELSI committee on the human genome project in the first place, and need to be examined perpetually.

Of all the possible effects of mapping and sequencing the human genome, perhaps the most far reaching would be those that affect the very essence of the general human genotype. Now that man has the power to prevent and eliminate "mutation," what does this mean for species evolution and biological "improvement?" Up until now, it is accepted, through Darwin's theory of evolution that mutations in the population are responsible for variances, and eventually desirable traits prevail in the population. As my high school biology teacher put it, the "sweepstakes winners" get to reproduce and pass their traits on. I know that it might seem far off in the future, but once we can eliminate certain traits and foster more desirable ones, who decides what traits are good, and what are bad? The fear is that everyone will end up predetermined to be a "sweepstakes winner." Once again we have the threat of eugenics. This is precisely why certain genetic manipulation could quite possibly be left alone, or even legislated against, in the future. However, a call to end all genetic manipulation may not be in order. Various genetic diseases can already be detected at early stages in embryos. More important, is the promise of gene therapy and "fixing" certain genetic problems.

It is accepted that these certain diseases that can be traced back to genes, such as cystic fibrosis, downs syndrome and Tay Sachs, are undesirable things. Where do we, as responsible biological entities, draw the line? That is a question that no single person should answer. Variety is indeed the spice of life, and it is the fear of many reasonable people, and myself, that genetic manipulation will in many cases threaten that variety which is the richly colored tapestry of the human race. Clearly, the prospects of creating a national regulatory entity, with more authority then the ELSI need to be looked into for the future.

It seems like long ago that scientists from around the world were peering into the nucleus of the atom, trying to find its secrets for the "benefit" of all mankind. Today, we still live with the consequences, both good and bad, of that scientific endeavor. In modern times, scientists have looked into the nucleus of the living cell, once again unlocking secrets for the "benefit" of mankind. The Manhattan Project is only surpassed in sheer size today by our human genome project, which, like atomic research, yields mixed possibilities of social, ethical, and political issues that will have to be dealt with in the near future.

Studying other large-scale scientific endeavors and strides for similarly lofty innovations may lead us to the most important insights about the ethical concerns of the genome project. Also important to look at are those scientific topics that the public actually cared about, and held opinions about. Indeed, very few have had the public and media interest like genetics and the genome project. Moreover, we need to look at the influence of corporate investment, and the lure of financial gain, on important scientific research at universities and independent laboratories. Once again the history surrounding atomic energy is an example. Research was fueled, not only by scientific motives, but also by large investments by the government and a war effort. How that played out in the 1940s and 1950s is an important thing to study when trying to learn about the future trends of research and results of the genome project. As always, it turns out that one of the most important sources for information about our future is the very past that we all share.