By Mark W. Foreman
In the 1997 film, Gattaca, we are introduced to a brave new world where genetic screening of newborns is routine and embryonic genetic manipulation is preferred over traditional conception. We are told the story of two boys in the Freeman family. The elder son, Vincent, is conceived naturally while his younger brother, Anton, is conceived in vitro and is genetically manipulated to remove any prejudicial genetic defects. At birth, Vincent is genetically screened and it is determined that there is a 99% probability that he will develop a heart disorder. He is given a life expectancy of only 30 years. From the moment of his birth the manner and time of his death are already known.
As they grow, Anton excels in every area and becomes the favorite son. Unfortunately, Vincent’s DNA follows him throughout his life. We observe how, as a child, he is denied admission to school because of his “chronic illness” and how the school’s insurance won’t cover him. As a teenager, he dreams of joining the astronaut program. His mother discourages him, telling him to be realistic. His chances are one in a hundred of being accepted into the program with his “heart condition.” As an adult, we see how, at each job interview, a routine “drug screen” is performed. Everyone knows that they are really checking DNA. There is a law against such discrimination, called Genoism, but no one takes it seriously. If you refuse to disclose, they can take a sample from secretions left by your hand off a door handle, or a handshake, or even the sweat left on the application you turn in. It is a world where they have discrimination down to a science. There is now a new underclass, “In-valids.” These are people discriminated against not because of race or religion, but because of “inferior” DNA. To the in-valids are left the menial and unimportant tasks in society while the “valids,” the genetically engineered elite, are given the better jobs and the better lives.
Is a world like that presented in Gattaca possible? While we do not have the technology to be there yet, many fear that the progress we have made in genetic research in the past few decades indicates that we are not far from a society much like the one Vincent Freeman lives in. While the advances in genetic screening, therapy and engineering promise great benefits in solving genetic disorders and diseases, they also raise very disturbing questions: Will we be forced to undergo genetic screening? Who will be able to obtain our genetic information? What about genetic discrimination? How easy will it be to shift from treatment for the human race to enhancement of the human race? In manipulating genes, have we stepped into a role reserved only for the Creator?
Certainly one of the most important discoveries of the past century was the 1953 discovery of the basic structure of the DNA (deoxyribonucleic acid) molecule. This is the famous “double-helix” model that looks like a spiraling staircase. DNA is responsible for transmitting hereditary characteristics from parent to child. This discovery laid the groundwork for understanding the basic mechanism for copying genetic material from one cell to another and from one human generation to another. This would eventually lead to recombinant DNA research, screening of genetic diseases, gene therapy and mapping the entire human genome. The last of these was accomplished by the Human Genome Project. Inaugurated in January of 1990 as a joint project of the National Institute of Health and the Department of Energy, the HGP was estimated at the time to cost about 15 billion dollars and take about 15 years to complete. It finished ahead of schedule and in June 2000 the NIH announced that the entire human genome had been sequenced.
According to one source, in the latest catalog of genetic disorders there are described 5,710 distinguishable genetic or chromosomal conditions.1 Statistically, genetic disorders are the second leading cause of death among children 1-4 in the United States and the third leading cause of death among teenagers 15-17. 25-30% of admissions to hospitals in the United States for children under 18 and 13% of adults are estimated to be due to genetic disorders. Also, 20-25% of institutionalized mentally retarded persons have genetic disorders.2
There are a number of different aspects in genetic technology to help solve the problems of genetic disorders. However, we will explore just two: genetic screening and genetic intervention.
The major advance in genetic technology has primarily been in the areas of diagnosis and prediction of genetic disorders. We can presently diagnose far more than we can treat. These activities involve genetic screening in which a geneticist attempts to discover the presence or absence of one or more genetic traits or conditions in an individual. There are predominantly four kinds of screening. Neonatal screening is genetically testing newborns for certain disorders and was the first form of genetic screening to be developed. The PKU screen was developed in the 1960’s and is now a standard screen for newborns.
Prenatal Diagnosis is the genetic screening of a fetus. It was historically the second type of genetic testing to develop. In 1966 the first amniocentesis was performed. As a result, physicians could successfully diagnose chromosomal abnormalities and inborn errors of the fetal metabolism. Today, prenatal testing can diagnose over one hundred genetic disorders including Tay-Sachs Disease, Down’s Syndrome, Cystic Fibrosis, Spina Bifida, Trisomy 13, Trisomy 18, Sickle Cell Anemia, Muscular Dystrophy, and Hemophilia.
Carrier Screening is usually done when one desires to know if he or she will pass on a genetic disorder to his or her children. It is possible not to have a genetic disorder, but to be a carrier of one if it is on a recessive gene. Most often, couples will consider such a screening if they are contemplating marriage. Carrier screening almost always is performed only on those who have a suspicion that they might be carriers of genetic disorders.
Finally, Predictive or Pre-symptomatic Screening is the most recent form of genetic screening and will probably expand in usage over the next decade. It allows individuals with family histories of certain genetic disorders to be tested to see if they are at risk of developing the disorder. It is called “pre-symptomatic” because the test is taken long before any symptoms of the genetic disorder might develop. A common genetic disorder that falls under this test is Huntington disease which strikes a person later in life, usually between 35 to 45 years of age. In 1993, the actual HD gene was finally discovered and now persons from families with a history of HD can be tested early in life to see if they will contract Huntington’s disease much later. Other genes responsible for genetic disorders have been discovered, all of which can be tested for pre-symptomatically.
While there is nothing inherently wrong with genetic screening in and of itself, it does raise a number of ethical concerns. The first concern has to do with the use of the knowledge arrived at through the screening. Once we have this knowledge, what can we do about it? Most proponents of genetic screening propose that such knowledge gives persons the freedom to make choices based on such information. However, at present, only a handful of genetic diseases are treatable and therefore advance knowledge can do nothing to prevent the onset of the disease nor treat it once it begins. Therefore, one is not sure what “choices” one can make. Having knowledge of most genetic diseases just doesn’t seem to help very much and, in fact, it may be harmful.
For example, take prenatal screening. Such screening is done to determine if a fetus has a specific genetic disorder and has become almost routine in pregnancy. If the test comes back positive, what is the parent supposed to do? The assumption among most of the medical community is to abort the fetus, for that is the only way to “treat” the disease. In fact, for many, this assumption underlies the whole purpose of prenatal screening. However, abortion is not an option. The fetus, by nature of the kind of being it is, is a human person from the moment of conception. The presence of a genetic disorder does not in any way diminish its personhood. As a human person, it is an “image-of-God bearer” and therefore to take its life is an affront to God Himself. Also, it would be unwise to make a decision to take the life of a child based upon such tests because genetic tests are not completely accurate. Many of them have substantial margins of error for false positives and false negatives. Even if such tests were to become more accurate, they cannot inform one of the magnitudes of deformity. Several genetic disorders have differing degrees of abnormality from mild forms to severe.
Prenatal screening is not the only area where the question of what to with the knowledge of a genetic disorder arises. It is also problematic for other types of screening. If an infant undergoes a neonatal screen that determines that he will develop Tay Sachs disease or muscular dystrophy, that could possibly lead parents to treat him differently, like Vincent was treated in the story of Gattaca. Leon Kass, the chairman of President Bush’s Council on Bioethics, relates the story of the father of a 10 year old girl who, upon learning that his daughter was a carrier of the BRCA-1 gene, an indicator of the possibility of breast cancer, insisted that she have a radical ovariectomy and mastectomy.3
There are also problems with the knowledge gained from Carrier screening. If a person has knowledge that he may pass on a genetic disorder, does he have a moral obligation not to get married or, if he does marry, not to have children? Should he seek sterilization even though screening might not be accurate or the chances are only one in four? There are also concerns about the knowledge gained with presymptomatic screening. Is it better to know for sure if you do or do not have a genetic disorder, or is it better not to know? Suppose a person is suspicious that she might have HD and so she is tested for it and finds out that she will develop the disease. How might that affect her life? Some argue that gaining such knowledge actually deprives a person of one of the most basic aspects of human life, the right to be ignorant concerning one’s future. Such ignorance is necessary for authentic free choices and actions. We often decry that too little knowledge can be dangerous without realizing that the same can be said of too much.
A second concern about genetic screening is the question of who else will be able to access the knowledge of a genetic disorder. Normally, health information is kept confidential between physician and patient. However, others may believe they have a right to your genetic information. For example, insurance companies argue that they have a right to this information. After all, they have a legitimate interest in controlling costs and therefore want to insure persons who are at low risk of disease or debilitation. If they get your genetic information and find there is a 60% chance of your developing a genetic heart disorder, they might charge a higher premium or even refuse to insure you, even though you might be perfectly healthy and never actually develop the disease. While the government attempted to prohibit such discrimination with the passage of the Health Insurance Portability and Accountability Act of 1996, which prohibits insurance discrimination on the basis of genetics, insurance companies can find ways of getting around such legislation.
Businesses may also feel they have a right to your genetic screen. Like insurance companies, businesses have a legitimate interest to control costs and they may not want to invest in hiring and training an employee if they know he might become ill early in life. However, this constitutes discrimination. It’s not even discrimination on the basis of handicap, but on a possible future handicap. While the Equal Employment Opportunities Commission has ruled that the denial of jobs on the basis of genetic information is illegal, many argue that there are still too many loopholes and exceptions.
Finally, the government might feel it has the right to know. If a person has a genetic disorder, there is a good possibility that he or she will eventually need state or federal resources to help defray medical costs. Therefore, the government might want to know a person’s genetic screen. In 1970, a relatively inexpensive test was developed for sickle cell anemia making it possible to identify carriers of the disease. During 1971 and 1972, twelve states passed mandatory laws for testing African-Americans to determine if they were sickle cell carriers as a condition to getting married. The idea was that by knowing their status in relation to sickle cell, married couples could think through their options and plans for children. However, as a result of the laws, many African-Americans lost their jobs, health insurance, and were even discharged from the military, even though they were perfectly healthy and had no risk of developing the disease.4 While the federal government rescinded all such laws in 1972, the idea of government mandatory genetic testing is still a very real possibility.
None of this is to say that genetic screening is unethical. Nor am I arguing that we should just remain ignorant. However, we need to realize that with such God-like knowledge comes a heavy burden and responsibility. The main question is, “What will you do with this knowledge?” One needs to seriously reflect on one’s motives and desires before taking such a significant step.
Genetic Intervention involves actually manipulating genes in order to improve them. This is sometimes called genetic engineering or, more commonly, gene therapy. We stated earlier that genetic screening is the main activity taking place in genetics today. This is primarily due to the fact that our technology is still in its infancy when it comes to actually being able to intervene in a person’s genetic make-up and make changes. However, it is the goal of almost all geneticists to be able to perform genetic therapy on human beings. What kind of intervention can or may be done someday?
There are two types of genetic therapy currently in research. Somatic cell therapy is intervention which aims to cure a genetic disorder by modifying the non-reproductive cells in a person. If successful, this would cure the person, but he would not pass that cure on to other generations. Germ line therapy is an intervention in the reproductive cells to attempt to modify them so that a particular genetic disorder would not be passed on to future generations. In this type of intervention both somatic cells and germ line cells are treated to affect both the present person and his or her future offspring. While there has been some success with somatic cell therapy, as far as is known germ line therapy has not been performed on human beings.
There are many benefits to genetic intervention. The possibility of curing, possibly forever, a number of genetic disorders is certainly an admirable and important goal in medical science. However, there are some very real concerns and moral problems with intervening in creation that should urge us to proceed with caution. One of these is the danger of commercialization. Many medical laboratories are run by large corporations. It would be naive to deny that one of the primary motivations behind genetic research is the possibility for enormous profits that a genetic cure would bring. Imagine the corporation that discovers and patents a cure for genetic heart disease or cystic fibrosis. The corporation would have complete control over the patent and could charge almost anything for it. Corporations can justify high prices by appealing to the expense of genetic research. Anticipation for profits might also cause companies to cut corners, place undue pressures on researchers, and slant studies in favor of the company. While there is some government regulation of genetic research itself, in a free market society such as ours, it is difficult to see how government could regulate the distribution of genetic cures.
For many, a more serious problem is the over all attitude found among many in the genetic research community which is often referred to as the “presumption of knowledge.” The idea is that if something can be known, then it should be known. This attitude often results in running full speed ahead into scientific experimentation and research, without taking the time to think through the ethical and social issues that such knowledge and experimentation might affect. My point here is not to impugn science in general, nor any specific scientist.
Those in medical science are often motivated by a desire to do good, to cure disease and make the world a better place for people to live. However, even pure motives can blind one to the social and ethical implications of scientific work. The recent claims by many to have either cloned or be attempting to clone a human being are an excellent example of this attitude. Almost all experts in bioethics agree that human cloning should not even be considered until the religious, ethical and social implications of such actions be considered and discussed by the research community. Yet there are those who have decided to proceed into this very controversial procedure without allowing any time for serious reflection of the possible ethical and social repercussions involved. Charles Colson states it well: “So while genetic research may lead to important medical advances, we must probe the deeper question: What are the restraints? Technological advance may make it possible to do something, but ought we to do it?”5 The restraints need to come from outside of science itself—these are not scientific issues. They are philosophical, ethical, societal and religious issues.
As far as specific types of interventions go, currently somatic cell therapy is the only type that has been performed on human persons. Since this is therapeutic, few have been morally critical of it beyond the points made above. Germ line therapy is a bit more controversial. More than just the present patient will be affected by such therapy and more needs to be considered. One may not know for a number of generations if a particular germ line treatment has been effective, or worse, if it is causing other unforeseen damage. Therefore it is difficult to form an adequate research design plan and to balance harms and benefits. The issue of informed consent is also raised by some, for we are now discussing performing experimental treatment on future generations who do not have any say in such experimentation.
Another problem with germ line therapy is that it must be performed on embryos in order for the intervention to spread to all cells including reproductive cells. This causes two problems: first, much of the early work in laboratory animals has been unsuccessful, resulting in defective embryos and embryos that did not survive the procedure. It is highly probable that such therapy, when used on humans, will have a similar effect, at least in the beginning. Given the personhood of the fetus from conception, this means we would be creating defective children who would most likely be aborted, or simply killing the unborn. While I would not completely rule out the possibility of germ line therapy, the present problems raise extreme difficulties that make such therapy on human persons unjustifiable for the present.
However, the area of most concern in germ line therapy is the temptation of crossing the line from therapy to enhancement. Therapy has to do with the curing or preventing of a genetic disorder. Enhancement has to do with improving traits and abilities that are not diseases. Here is where genetic technology differs drastically from other forms of treatment. While some argue that genetic technology is just another form of medical intervention, it differs substantially in the ways that it can literally change our understanding on what it means to be human. Some argue that this really is playing God. While this charge is often legitimately dismissed, as any life or death medical intervention can be seen from the perspective of playing God, in the case of genetic technology it is a very real analogy in two senses. First, God created man with certain abilities and limitations and to attempt to expand them is to step into a role that is reserved only for Him. Secondly, those researchers who develop the procedures for genetic enhancement have a God-like control over the destiny of future generations. What will be the standard of what it means to be a healthy, functioning human being? The standard will be the values and concerns of a handful of genetic scientists—a community that is predominantly naturalistic in its thinking and outlook.
What we are really talking about here is eugenics, though few will use that term. In the early part of the last century, there was strong negative eugenics movement that dominated the medical community. Negative eugenics is the attempt to improve the race by eliminating undesirable traits. Forced sterilization of the mentally handicapped, regularly practiced in the first half of the 20th century, is an example of negative
eugenics. It only died out after it became associated with the Nazi atrocities of WW II. However, today many researchers are advocating positive eugenics—improving the race by enhancing desirable traits such as intelligence, memory, and physical abilities, including an extended lifespan. With its promises to end suffering and many social burdens, the public will have a hard time saying no to the persuasiveness of the research community.
Genetic technology offers some very real benefits to mankind that cannot be ignored. The opportunity to cure or prevent such genetic diseases as Down’s syndrome, Cystic Fibrosis, or Spina Bifida is one that should be explored to its fullest extent. It would be just as foolhardy to abandon genetic research altogether as it would be to run full steam into it without pausing to consider some of the very real dangers such research poses. My argument presented here is not to advocate a halt on either screening or intervention. My purpose is to call for serious reflection on the ethical implications of genetic technology. We need to define the parameters of such technology and to seek out its limitations, for it certainly has some.
We need to be ever careful of the temptation so prevalent in modern society to justify almost any action in the name of happiness or the relief of suffering. We have made a god of good health and often give the impression that the only truly good human life is one that is devoid of any suffering. Such a view of life is not only inaccurate, but is outside the design that God has imposed on us. Suffering, illness, and death are signs of our frailty and dependence on the Divine healer. Certainly this does not mean that we should pursue suffering nor that we should not attempt to relieve what suffering we can. But it does mean a recognition on our part that there are limits to what we can do. Trust in God means that we should not move beyond those limits. For ultimately all things belong to Him. Soli Deo Gloria.AJ
Mark W. Foreman is Assistant Professor of Philosophy and Religion at Liberty University in Lynchburg, VA. He is the author of Christianity and Bioethics (College Press, 1999).
1 Leroy Walters, “Reproductive Technologies and Genetics”, in Medical Ethics, 2nd. ed. Ed. Robert M. Veatch (Boston, MA: Jones and Bartlett, 1998), 220.
3 Kass, MD, Leon R., Life, Liberty, and the Defense of Dignity (San Fransisco: Encounter Books, 2002), 125.
4 C. Christopher Hook, MD, “Genetic Testing and Confidentiality” in Genetic Ethics: Do the Ends Justify the Genes?, eds. John F. Kilner, Rebecca D. Pentz, and Frank E. Young (Grand Rapids, MI: Eerdmans, 1997), 127.
5 Charles W. Colson, “Contemporary Christian Responsibility,” in Genetic Ethics: Do the Ends Justify the Genes?, 220.
GLOSSARY OF TERMS
Bioethics. A branch of the discipline of ethics which analyses and studies ethical issues that arise within the medical and biological sciences
Cloning. The popular name for what is technically known as somatic cell nuclear transfer. It is producing a genetically identical copy of a living organism by replacing the nucleus of an egg cell with the nucleus of a somatic (body) cell. Reproductive Cloning involves the implanting of a cloned embryo in a female organism’s womb in order to produce a live birth. Therapeutic cloning involves producing cloned embryos whose cells will be harvested for research in treating diseases.
DNA. Deoxyribonucleic acid. The famous “double-helix” molecule contained within each living cell which transmits hereditary characteristics from parent to child.
Eugenics. The idea of improving the human race through genetic engineering.
Genetic engineering. Also called genetic intervention. The modification, manipulation, or replacement of genetic material for therapeutic or enhancement purposes.
Genetic enhancement. A kind of genetic engineering which modifies a person’s genes in order to enhance or improve individual traits such as height, eye color, or intelligence.
Genetic screening. Also called genetic testing. The use of diagnostic procedures to determine whether or not an individual has a particular genetic trait.
Genetic therapy. A kind of genetic engineering which modifies a person’s genes in order to cure a genetic defect or disease.
Stem cell research. Scientific research that utilizes or is conducted on stem cells, usually for the purpose of treating certain diseases. Stem cells are unspecialized cells which can develop into cells found in other types of tissues. Stem cells are prevalent in human embryos.