Searching for the Holy Grail: The Human Genome Project and Its Implications
Morse, Allison, Journal of Law and Health
The Report on the Human Genome Initiative declared that uncovering the human genome is revealing the "book of man,"(2) that by mapping and understanding the human genome we will understand what it means to be human.(3) Many proponents of the Human Genome Project give a dominant place to an internal mechanism, the gene, as the source of human behavior.(4) Where we as a culture allocate responsibility has profound effects on how we construct our identity and our society.
The Human Genome Project is a scientific enterprise under the auspices of the U.S. Department of Energy and the Department of Health and Human Services. Its task is to order and sequence the human genome.(5) This project will require the mapping of some three billion bases from one genome that will act as the prototype of a "normal" genome.(6) Many of the scientists involved in the Human Genome Project believe the mapping of these three billion bases will lead to major advances in medicine(7) and biotechnology,(8) as well as uncover the essential "text" of what it means to be human.(9)
Supporting scientific enterprise is an important function of government; however, science is not immune from the philosophic persuasions of its scientists.(10) The methods of research our government decides to endow will reflect our own culture's belief of where causal agents reside.(11) The assumption that genes are the carrier of our destiny is a profoundly ideological stance. It places reductionist explanations(12) to behavior above all others and, in doing so, allocates other causes such as environment to subsidiary roles.
Legal scholars have been quick to jump on this reductionist bandwagon and write of the legal implications resulting from the mapping of the human genome. Articles have been written on the problems of individuals obtaining insurance if a test reveals they carry the gene for a certain disease,(13) or on physicians becoming subject to torts for failing to disclose the presence of a genetic defect in a patient to her family members,(14) or on the pros and cons of genetic privacy.(15) These are important issues and ones that need to be addressed, but what underlies them is an assumption that the claims of the Human Genome Project are true.
Legal scholars are not alone in their enthusiasm for this reductionist explanation of human traits. The idea that a map of identifiable sequential regions in DNA can "control" manifested traits, from disease to personality, has been easily accepted by the public.(16) After all, it is a highly plausible theory, to the layperson or even to someone with considerable education. Scientists have identified areas of DNA that, when mutated, affect a trait of the human host, such as the single gene for cystic fibrosis. Furthermore, a tenth-grade biology class can describe Mendelian genetics and how a gene from one's mother and another from one's father will determine the color of one's hair or eyes.(17)
The wide adoption of DNA as master molecule in the scientific community is seen in the incredible explosion of trials for differing gene therapies.(18) "The National Institute of Health (NIH) is spending an estimated $200 million a year to develop and test tools and techniques for gene therapy. Private companies have raised hundreds of millions of dollars to enter the field and are now sponsoring most of the clinical trials. Many academic centers have created gene-therapy programs and joined the jockeying for a piece of the action."(19) To date, very little concrete data on the benefits of gene therapy have resulted from all this research.(20) Yet, the allocation of medical research resources continues to increase in this area.(21)
The benefactors of the Human Genome Project will undoubtedly be the biotechnology companies. Their interests are served by fostering the "myth" of the genome; moreover, they will be the recipients of funding for new technological breakthroughs in isolating genes and will profit from the marketing of DNA tests to doctors, employers, and genetic counselors.(22) Universities also benefit from the continued belief in this deterministic model, gaining access to substantial funds poured into this long-term project, as well as all the subsequent research projects that hopefully will make the half-billion dollars spent on the map of the genome meaningful.(23) These kind of funds ensure that those individuals who choose to research microbiology over evolutionary biology will be the ones financed and thus able to produce research. This will eventually result in a substantially larger tenure track for scholars in this field as opposed to other medical or biological models and will perpetuate the stake research institutions have in this deterministic explanation for human behavior. In addition, the geneticist not only gains from this model through academic recognition, but also through financial gain.(24) Most established molecular biologists are not only paid to map the genetic sequence, but many also have a financial stake in bio-technology enterprises, either as shareholders or as employees.(25)
Many media reports have also promoted the notion of biological determinism.(26) An illustration of how the media has promoted genetic explanations above social ones is portrayed in the New York Times coverage of the National Research Council's 1992 report on violence.(27) The Council's report gave, at best, a weak role to genes in the formation of a violent predisposition.(28) Out of the 464 page report, only fourteen pages dealt with any link to a biological component.(29) Yet the New York Times headlined its article on the Council's report by saying, "Study Cites Role of Biological Factors in Violence."(30) The news media report on a regular basis of new discoveries linking genes to behaviors, such as schizophrenia, alcoholism, and homosexuality.(31) Yet, the fact that virtually all these links have been denounced by further experiments do not garner the same kind of media exposure.(32)
Of course, there is the other extreme where people do not believe biology has anything to do with the development of traits. That is not the position of this Paper, nor of most people when they are asked to allocate the roles of nature and nurture in human development.(33) What this Paper does attempt to explore are the effects on our society when scholars, scientist and the media promote the biological explanation of behavior over environmental or individual ones.(34)
Legal scholars, scientists and the media continue to debate how society will deal with the seemingly preordained fact that science will one day be able to analyze each person's DNA and come up with a disease profile and perhaps a personality profile as well. For example, legal issues raised by the belief that this type of profiling is possible include matters involving privacy,(35) employment,(36) insurability,(37) eugenics,(38) and our whole notion of freewill with its implications for our entire system of justice.(39) Yet in some sense, these "ethical issues," issues that James Watson(40) declared to be of such importance that three percent of the money allocated to the Human Genome Project should be set aside for study, do in fact, legitimize the whole idea of the Human Genome Project itself.(41) Certainly all of this sound and fury about the project would not exist if the project itself could not deliver this "Brave New World" in the true sense of Huxley's novel.(42) That is, when scholars and scientists argue about the sociological ramifications of having a map that pinpoints the root of human traits, it implies this is what the map of the genome will eventually be able to do. The sociological issues ascribed to the mapping of the human genome include people losing their jobs because they have markers for certain illnesses, women aborting fetuses because a genetic marker for an unwanted trait has been found and projects such as Head Start losing their funding. These Faustian scenarios become even more obscene considering that the complete map of the human genome, and identification of the areas of the genome that correspond to certain traits, are not able to provide a deterministic model to support these types of actions.
This Paper will explore the ethical considerations of the reductionist paradigm that the Human Genome Project represents, and analyze how this paradigm affects our political institutions, our family relationships, and even our identity. Part Two will provide the scientific background for a discussion of the Human Genome Project. It will begin by defining two competing theoretical constructs scientist use when exploring biological phenomenon: reductionism and organicism. This Part will then offer a rudimentary explanation of how genes function. Yet even this rudimentary explanation illustrates the complexity involved in the functioning of genes, leaving the reductionist notions of genes as the "master molecule" wanting. Part Three analyzes the claims of what can be accomplished by the Human Genome Project and explores more productive avenues where policymakers could be allocating our financial resources. Part Four looks at how genetic testing can be a form of power which medical, insurance and government institutions can use to define what is "normal." This section also evaluates the advantages and disadvantages of predictive diagnoses on individuals and their families. Part Five looks at the subscription of our culture to the model of gene as determinant of disease and behavior, opening the door to personal and institutional eugenics. Part Six looks at the political cost of deterministic notions, and how these very concepts could undermine the theoretical foundations of our whole system of justice.
II. THE SCIENTIFIC BACKGROUND
A. Reduction v. Organicist Explanatory Models
The quest of the Human Genome Project is premised on the notion that by identifying the smallest unit involved in biological processes one will have a blueprint with which to trace human attributes. A reductionist framework presupposes that by discovering the smallest component of an object you will have found the explanatory cause for that thing.(43) The Human Genome Project is the quintessential reductionist endeavor.
Science has benefited from a reductionist outlook. For example, the discovery of bacteria, something unseen by the human eye, was proven to cause many diseases.(44) Moreover, the physical sciences were able to harness a vast amount of energy from splitting the atom.(45) The success of reductionism in science resulted in other disciplines following this paradigm as a means to gaining knowledge in their field of study. For example, in the universities, an increasing emphasis on specialization occurred in order to satisfy the demand for specialized technicians in the work place.(46)
Although reductionism provides important insights into phenomena, it is inadequate to explain living systems. Professor of Zoology at Harvard, Ernst Mayr, wrote:
[T]he claim that every attribute of complex living systems can be explained through the study of the lowest components (molecules, genes, or whatever) struck me as absurd. Living organisms form a hierarchy of ever more complex systems, from molecules, cells, and tissues, through the whole organisms, populations and species. In each higher system, characteristics emerge that could not have been predicted from a knowledge of the components.(47)
Professor Mayr's point of view reflects a competing paradigm for the understanding of living organisms, called organicism.(48)
Organicists believe that in order to understand an organism one must look at the organizational structure of the system, not just its disparate parts.(49) This conceptualization of life does not negate the value of analyzing organisms at reduced levels in order to understand how the components work.(50) The organicist believes that it is the genetic program which functions on the parts of the organism.(51) To the organicist,
analysis should be continued downward only to the lowest level at which this approach yields relevant new information and new insights. Every system, every integron, loses some of its characteristics when taken apart, and many of the important interactions of components of an organism do not occur at the physicochemical level but at a higher level of integration.(52)
In addition to seeing the organism as a whole, a multiplicity of viewpoints are needed to understand the complete function of the organism.(53) Instead of looking for one singular cause for behavior, it is important to understand the different stances from which a question is asked; whether it be at the genetic, individual, or social perspective, each reveals truths about the organism.
Multiplicity of perspective seems to go against the western world's conception of understanding; yet this understanding is not what is "natural," but is rather a product of our own culture's dogma.(54)
The western adherence to the illusion that the link between objects in space and events in time is a straight line is similar to the belief in religious dogma. Just as all major religions of the world begin with the assumption that beneath the flux of our sensations there lies a unifying principle, so science has discovered in Euclid's rectilinear system its corollary.(55)
"According to Euclidean geometry, a point cannot occupy more than one locus."(56) Therefore, something cannot be one thing at the same time it is another. When you see different actions and reactions converge, the idea of causality looses its meaning, which can be uncomfortable for those socialized in this Euclidian world.
Our society rewards people who discover tangible things.(57) This perpetuates the perspective of linear cause and effect as the only paradigm in which to explain our world and to get scientific recognition.(58) Moreover, an easy cause-and-effect relationship fits nicely into a news sound bite.
On the other hand, if one's message is that things are complicated, uncertain, and messy, that no simple rule or force will explain the past and predict the future of human existence, there are rather fewer ways to get the message across. Measured claims about the complexity of life and our ignorance of its determinants are not show biz.(59)
Reductionism is "show biz" for it promises to explain all phenomena by reducing one phenomenon into its smallest particle.(60) In the exploration to understand human traits, that smallest particle is the gene.
B. How Genes Work
Genes are an important part of the functioning of an organism; yet, when you understand how they function it is clear they do not hold this sacred power as the "master molecule." The genes are merely part of a system with a complex web of feedback loops, both internal and external to the organism. It is this entire system that "controls" the behavior of an organism.
The genome is the name for one haploid set of chromosomes.(61) DNA is the structure inside our chromosomes that carries heredity, as illustrated in 1944 when DNA from one kind of bacteria cell was injected into a different kind of bacteria cell, and that cell subsequently began to display traits of the donor cell.(62) In 1953, James Watson and Francis Crick set out a model for the structure of the DNA.(63) The DNA's structure is like two separate strands composed of alternating sugar and phosphate molecules.(64) These two strands are wound into a double helix that are connected at different sections by bases.(65) The four kinds of bases in DNA are adeline (A), thymine (T), cytosine (C), and guanine (G). They can appear in any sequence on the DNA strand, yet, (A) must be opposite to (T) and (C) must be opposite to (G).(66) Three sequences of three DNA bases form the code for an amino acid.(67)
Amino acids are the basic component of proteins. A protein is composed of 100 or more amino acids.(68) Proteins are involved in all aspects of the workings of the human organism.(69) There are no "genes" in the sense of a physical object.(70) Genes are specific sections along the DNA molecule where inherited information from the parent is a component in the manifestation of a particular trait.(71) The reason it is only a component, even in single gene diseases, is that a gene contains the information for a protein which is dependent on different enzymes in order for that gene to synthesize. Each enzyme is a protein. Therefore,
[t]he one-to-one correspondence between genes and proteins, commonly expressed by saying that each gene 'codes,' 'determines,' or 'mediates' the synthesis of one protein, only means that it specifies that protein's linear amino acid sequence. The whole process by which that protein is synthesized will only occur if the cell's entire metabolic apparatus functions properly. This always requires many different proteins and therefore many different genes.(72)
Proteins cannot be manufactured without genes, but neither can they be manufactured without completion of the metabolic process.(73) The resulting protein's behavior is as dependent on the gene's "message" as it is to all other factors of the metabolic process.(74) This illustrates that genes are not the determinant mechanism in biological processes, but are part of an interaction between both the genes and the organism as a whole.
Additionally, another phenomenon within an organism causes different traits, even when the organism has the same genetic code and it is nurtured in the same environment. This phenomenon is called "developmental noise."(75) An example is the fact that identical twins have different finger prints or that we have different fingerprints on our right hand as compared to our left.(76) This "developmental noise" is attributed not to genes or environment, but to random variation that occurs in cell division.(77)
The idea of a gene as some kind of "master molecule" sending out orders to be completed by the rest of the body is undermined by subsequent discoveries which reveal that messages do not go in one linear pattern, but rather are interactive. DNA, in order to send a message for the production of a certain protein replicates itself onto RNA.(78) RNA then transports this message of the DNA to another part of the cell, the ribosomes, where the production of the protein occurs.(79) This message system, however, does not go only one way. It has been discovered that enzymes, called reverse transcriptase, can …
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Publication information: Article title: Searching for the Holy Grail: The Human Genome Project and Its Implications. Contributors: Morse, Allison - Author. Journal title: Journal of Law and Health. Volume: 13. Issue: 2 Publication date: Summer 1998. Page number: 219. © 1997 Cleveland Marshall College of Law. COPYRIGHT 1998 Gale Group.
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