Kenan J Sauder
The Ethics of Genetic Testing
A. Goals of the Genome Project
B. Background information
1. Genetic predisposition disorders
2. Environment Independent Disorders
II. Ethical, Social, Legal Issues
1. Health Insurance
D. Gene Patenting
E. The Affects on the Parent-Child Relationships
III. Actions That Have Been Taken
IV. Working Through Ethical Dilemmas
A. Primary Principles
1. Case Study
V. A Christian Response
The Goal of the Human Genome Project is to obtain genetic mapping information and to determine the complete sequence of all human DNA by the year of 2005. The project started in 1990 and 180 million dollars are being spent on it annually. This adds up to a total of over 2 billion dollars for the 15 year budget. Of this 2 billion dollars budgeted, 5% is spent annually on the ethical, legal and social issues. This report focused on some of these issues.
Before discussion of the ethical, legal and social issues can be successful, some background information is needed. For example, why is the goal of mapping the human genome important? Who is going to benefit or at least be affected by this new information?
Dr. Francis Collins, the current director of the Human Genome Project believes there are many benefits. Not surprisingly, Collins believes the money being spent on this project is well worth it. Collins believes the project has great potential to relieve suffering and also cut back on long term expenses (Collins, 1996).
These suffering and spending reductions are predicted to occur as more genetic diseases are located. Genetic disorders can be divided into 2 broad groups:
1. Genetic predisposition disorders: those in which the presence of a gene confers an increased tendency to develop a certain disorder. The disorder may or may not develop depending on a variety of associated personal and environmental factors such as geographic location, diet, exposure to harmful chemicals or toxins, exercise habits etc...
2. Environment independent disorders: Involve a determining force so overwhelming that the disorder is expressed in a predictable manner without environmental interaction
In the first type of disease, through genetic diagnosis the persons can learn what environmental factors they should work to avoid. In the second type of disease, the person can have regular checkups to increase the likelihood of an early diagnosis and therefore start early treatment. In both cases, the person's suffering and society's expenses can likely be reduced. Generally, early detection increases the likelihood of successful treatment which in turn is likely less expensive than the development of a "full-blown" disease. With this said, I found a contradiction in Business Week magazine that showed the costs of screening for cystic fibrosis created more of an expense than treating the disease (Krohn, 1995). It stated that the estimated lifetime medical costs for someone with CF is around $200,000 whereas the cost of each test was more than $200. This calculation puts the cost of avoiding one CF birth at more than 1 million dollars.
David Magnus brings up the broader issue of allocation. In an article entitled Gene Therapy and the Concept of Genetic Disease he writes:
"consideration of the main causes of death, including cancer, leave open the possibility that emphasis on gene therapies is not the best allocation of resources. An estimated 50% of all deaths in the U.S. in 1990 were due to preventable causes.
Ethical, Social, Legal Issues:
The ethical, social, and legal issues that are predicted to arise are many. Some of these issues have already begun to be studied while others have yet to be addressed. The following are broad topics with a listing of and description of some particular issues along with there topics.
1. Discrimination: "The Genetic Scarlet Letter":
One source predicts that a poor genetic makeup will likely result in varying rates depending on the extremity of problems and likelihood of receiving the disease (Arras, 1995). In extreme cases, they feel it is likely that health insurance would be canceled.
There are 2 factors that may pressure insurers to use genetic tests. 1. Once such tests become available in medical practice, individuals can be tested privately to learn whether they have enhanced risks of disease. Likely these persons will buy higher life insurance policies. 2. Competition among insurance companies will tend to drive companies toward screening for predisposition.
Historically, there have been some examples of this discrimination. In the early 1970's, some insurance companies denied coverage and charged higher rates to African Americans who were carriers of the gene for sickle cell anemia. 22% of people with a known genetic condition in the family reported that they had been refused health insurance coverage because of their genetic status, whether they were sick or not (Hudson, 391).
The fear of this discrimination has undesirable effects. People may be unwilling to participate in research and to share information about their genetic status with their health care providers or family members because of concern about misuse of the information.
An example of this discrimination was seen in a California health maintenance organization. The HMO discovered that the fetus a client was carrying had the gene for cystic fibrosis. The HMO told her it would pay for an abortion, but that if she chose to have the child, it would not pay for any treatments (Meilaender).
Employment discrimination is directly connected to the health insurance. Higher risk employees result in increased company expenses. If employer discrimination occurs, it will result in the persons with the "bad genetic luck" being funneled into less desirable jobs, lower wages, or unemployment. Their bad genetic luck is transformed into bad social and economic outcomes.
People are normally concerned about the characteristics of their children, including those characteristics determined or influenced by genes. For this reason, genetic information could potentially impact persons' prospects in the "marriage market." There are dating services already established whose members must test negative for exposure to the AIDS virus. Who is to say people won't demand genetic information as a precondition to dating as well? Carl F. Cranor says:
"Why is it unreasonable to ask for genetic information? If one can reasonably refuse to marry a child abuser for the sake of one's future children, then can not one refuse to marry someone with a horrible genetic disease for the sake of one's future children? (Cranor, 1994).
It is a possibility that a particular sex will be preferred and for this reason sex selection could result. An example of this is currently being seen in Korea. Korea currently predicts a 10% increase in the male to female ratio within the next 30 years. Sex selection is not legal in Korea, but doctors give unspoken results through the amount of enthusiasm they show the mothers. If the doctor lacks enthusiasm upon the test results, the mother often calls for an abortion, knowing that the fetus is female (Wolf, 1996).
-Racial Group Membership:
The question has been raised: "Is it fair to use genetic testing for the purpose of identifying who is and is not a 'real' or 'true' member of a racial group?" (Lee, 1991). For example, should an American Indian be refused access to reserves and not be recognized by the government as American Indians if there is too much of another race in his/her background?
-The Lower Class:
Prenatal genetic screening can cost from $500 to $1000. The expense of genetic tests prevents many people from using them. Prenatal diagnosis currently is used primarily by women from the middle and upper classes. This has some serious implications. Before the era of prenatal testing, a child with a genetically based mental or physical disability could be born into a family of any socioeconomic status. The middle and upper class families used resources and connections to lobby legislators to pass laws providing for the adequate education of children with disabilities. Now, fewer children are being born to couples of higher socioeconomic status, therefore the affected children may become an issue for the poor, with fewer protections and resources available to them.
If a child turned out to be heterozygous for a specific gene and neither parent had the gene, then it is clear that someone else was involved in the reproductive process. Also, with the genetic testing of the fetus, a lot is learned about the mother. In many situations, persons do not want to know about their own genetic makeup because of the great psychological stress it imposes. The stress comes from realizing they will have a disease but still being unable to prevent it. Stress also comes from knowing there is an increased risk of obtaining a disease. In this case, there is the constant work of avoiding certain environmental conditions.
Does allowing the health insurance companies, employers, and dating services to obtain a person's genetic information infringe on his/her rights? If so, laws will need to be established because already there are some breaks in these standards. One source states that 24% of American geneticists surveyed admitted they would disclose genetic information to employers, against their patient's wishes(Hudson, 1995).
Carolyn Marks, a member of the National Ovarian Cancer Coalition is a suspect for a future ovarian and/or breast cancer condition. She expects to receive test results in July, and she worries that members of her family could be prevented from getting jobs or health insurance because of her decision to be tested (Marshall, 1094).
Edge and Groves in their text: The Ethics of Health Care define eugenics as the practice of manipulating the genes of offspring through either breeding or genetic alteration. This idea of race selection, physical characteristic selection and working toward the ideal human being is a very common fear.
Eugenics may also be defined in terms of consequences. "sometimes it is the rationale, rather than the means employed, that identifies a policy as eugenic." For example, various programs are often called eugenic if their intent is to further a social or public purpose. So, if the purpose of genetic counseling and biomedical research is to reduce costs or spare future generations of suffering, they could be considered eugenic (Crano, 1994).
The genetic tests are suspect of increasing the likelihood of abortions and decreasing the boundary of what is an ethical/moral reason to have an abortion. It is feared that some parents "might engage in selective abortion for frivolous reasons, to secure offspring with blue rather than brown eyes, for example"
Pro choice advocate Beverly Harrison writes in response to the possibility that genetic testing will lead to abortions done to select characteristics:
"... I for one confess that so far the issues raised have produced more agony than clarity... Yet when I ask myself what I would do in this situation, the limits of my values come screaming forth, "not too much mental retardation! I couldn't cope........"(Cranor, 1994).
Is Harrison's "mental retardation" the type of suffering the human genome project hopes to relieve? Stanley Hauerwas questions this "working to relieve suffering idea" as one of the goals of the Human Genome Project. Hauerwas responded to a TV add which showed a couple looking at their newborn at the hospital and they look traumatized. The couple looks into the camera and says: don't let this happen to you. Prevent retardation!
Talking about suffering, he writes:
"We not only suffer from diseases, accidents, tornadoes, earthquakes, droughts, floods -all those things over which we have little control- but we also suffer from other people, from living here rather than there, from doing this kind of job -all matters we might avoid- because in these instances we see what we suffer as part of a large scheme. This latter sense of "suffer," moreover, seems more subjective, since what may appear as a problem for one may seem an opportunity for another. Not only is what we suffer relative to our projects, but how we suffer is relative to what we have or wish to be" (169).
"Are we right to assume that the retarded are suffering by being retarded? Certainly they suffer retardation, but do they suffer from being retarded? They may perceive that there are some things some people do easily which they can do only with great effort or not at all, but that in itself is not sufficient reason to attribute to them great suffering" (170).
Aside from these emotionally-tied issues, Edge and Groves make a more scientific statement relating to eugenics. They mention that by limiting which genes we want in our gene pool, we are opening ourselves up to danger. "Our resistance to various sorts of biological attacks is dependent to a great degree on our genetic variety" (156). One example of this is in the case of sickle-cell anemia. In the US it is only known for its negative effects, but in Africa, the disease functions to ward off the effects of malaria.
4. Gene Patenting
Gene patenting is a common occurrence right now in human genetics. It is a phenomenon in which private research facilities race to "find" genes (sequence them) and then patent them. By patenting them, the company gets any income that might come out of their research on this particular segment of the human genome. Other companies can then buy the rights to the findings made and also to the actual researching rights.
The Affects on the Parent-Child-Relationship
Genetic knowledge asks feminism to reconsider the meaning of the parent-child relationship. Should it remain "the ideal of unqualified love and acceptance of children," no matter what they turn out to be? (Wolf, 1996).
Leon Kass remarks:
"I was conceived after antibiotics yet before amniocentesis, late enough too have benefited from medicine's ability to prevent and control fatal infectious diseases, yet early enough to have escaped from medicine's ability to prevent me from living to suffer from genetic diseases. To be sure, my genetic vices are, as far as I know them, rather modest, taken individually -myopia, asthma and other allergies, bilateral forefoot adduction, bowleggedness and pessimism, plus some four to eight as yet undiagnosed recessive lethal genes in the heterozygous condition -but taken together, if diagnosable prenatally, I might never have made it."
However, there are other points of view. In Tom Wilkie's book, Perilous Knowledge, he sees the potential change in the relationship as positive:
"Consider for a moment the position of the parents and of the child. Having achieved a child with the genetic characteristics they desire, the parents can be expected to cherish and look after the child with greater attention and devotion than they might otherwise have done. Similarly, the child will go through life with the reassurance that he or she was not the consequence of blind chance but that his/her parents went to considerable trouble and expense to bring about his or her birth. Everyone seems to be benefited. (other than the fetus which we ask: Do they have any claim to moral consideration?)"
Actions That Have Been Taken:
The group being funded by the Human Genome Project is abbreviated ELSI (Ethical, Legal and Social Implications). This is the group that is being funded by 5% of the genome budget. ELSI has established four primary goals:
1. Address and anticipate the implications for the individual and society of mapping and sequencing the human genome.
2. Examine the ethical, legal, and social consequence of mapping and sequencing the human genome.
3. To stimulate public discussions on the issues.
4. Develop policy options to assure that the information is used for the benefit of the individual and society.
These goals are going to be difficult to obtain but are keys to the working through of ethical dilemmas. The third goal has begun to be reached thanks to various forms of media. Science News asked for readers' input on some ethical issues within the following case study. Science News asked a group of students and a group of adults what they would do in the following situation:
The situation was as follows:
"..a couple who both have achondroplasia, an inherited form of dwarfism, desire a dwarf child. They tell the genetic counselor they will abort a fetus destined to grow to normal height. Should the center perform the test, knowing the couple's intent?" (Fackelmann, 408).
Result of the study: Of the adults who answered this query, 84% said the center should perform the test for this couple. The students split with 59% okaying the test and 41% vetoing the test. The primary reason for the okaying was simply that persons felt the couple should make the decision which follows the principle of autonomy. Those against primarily felt that the principle of nonmaleficence outweighed the couple's autonomy.
Working Through Ehtical Dilemmas:
To work through ethical dilemmas like the above, 6 primary principles are considered. They are:
1.Autonomy = being free to make decisions involving one's own or a family member's health and well-being.
2.Beneficence = doing the right thing; providing or promoting well-being and preventing harm.
3.Justice = being fair.
4.Nonmaleficence = doing no harm; acting with no harmful or selfish motives toward another person or society.
5.Veracity = telling the truth.
6.Fidelity = keeping all contracts and promises.
These principles, as seen in the sample case study often conflict. For this reason, each individual must make up his or her mind which principle is higher than another. This prioritizing is the cause for the disagreement amongst the two groups in the sample case study. The adults feel autonomy is the number one concern while about 41% of the students rank nonmaleficence above autonomy (in this situation). There is no way to determine what is a right or wrong answer in many cases. For this reason, it is very important to have trustworthy persons involved in the decision making process.
A Christian Response:
As mentioned in the section of "eugenics," the area of genetic screening calls for a lot of judgment calls based on personal ethics. I believe that through the discussions on these current and theoretical issues we are starting to prepare ourselves for the not so far off future. To get an adequate balance of view points, the persons taking part in the conversation must be diverse. Christians should be a part of this diverse group.
At a Christian Medical Society meeting, Collins specifically addresses the doctors: "Christian doctors are the position to help patients meet new challenges. Christian doctors are able to face ethical issues better because they often have a solid moral base." Collins ask that Christians in the health field stand up to those other Christians that question their involvement in the sciences. "Tell them that the long term goal is to go out and heal the sick" (Collins, 1996). The Christians and other ethically minded people need to face the challenges as our understandings of disease and genetic defects become blurred. "Will 'defective' come to mean disposable?" (Lammers, 1990, 871). Is genetic treatment going to keep to its goal of fighting the disease and not the diseased? (Meilaender, 1990).
The Human Genome Project has already sequenced many genes and continues to press forward as the 2005 finishing date approaches. As the gap between locating which genes code for a disease and how to cure this disease widens, more and more issues arise. They are these issues that ELSI must attack using the budget allotted by the genome project. Having read this study, it is apparent that many people outside of ELSI are going to need to do think and work through the many issues relating to the Human Genome Project.. We as the health care consumers must continue our discussions as we decide what we as a society want to gain from this project.
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Hauerwas, Stanley. Suffering Presence. University of Notre Dame Press. Notre Dame, Indiana 1986.
Hudson, Kathy L. (October 20, 1995). Genetic Discrimination and Health Insurance: An Urgent Need for Reform. Science.
Krohn, Patrick J. (December 4, 1995). A Key Test For Genetic Testing: A breast cancer clue sparks an important debate. Business Week.
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