Thesis: As the Human Genome Project draws closer to completion the field of genetic testing is rapidly expanding. Numerous ethical issues are arising, within genetic testing, such as privacy issues, the potential of discrimination or eugenics, and how to convey the information properly.

      I.  Background -The Human Genome Project

     II.  Introduction to genetic testing

            A.  What is genetic testing

            B.  Why do genetic testing
                1.  determine the identity of a disorder
                2.  determine risk of developing a disease
                3.  compatibility of partners

    III.  Issues surrounding genetic testing

            A.  Personal privacy issues- who has rights to your genetic information?

            B.  Issues of discrimination
                1.  Insurance companies
                2.  Employers
                3.  Society as a whole

            C.  Eugenics
                1.  Eugenics history and background
                2.  Aborting babies with undesirable characteristics or diseases

            D. Issues of counseling and informing patients

    IV.  Steps toward dealing with the issues present.

            A.  HGP committee dealing with Ethical, Social and Legal issues

            B. U.S. DOE Task Force on genetics and insurance

     V.  Implications of genetic testing to Christians

            A.  How should one respond to the arrival of genetic testing?

            B.  Do the potentials of genetic testing out weigh the issues that arise because of it from a Christian point of view?

    VI.  Conclusion

    VII.  Bibliography
 
 

Background:

Today we live in a very technologically advanced society. Scientists are continually discovering new things about the world and the way things work. "In the 1980ís, it was becoming increasingly apparent to many scientists that an understanding of basic biology would be greatly enhanced if the detailed structure of DNA was understood" (Mehlman, 1998). Thus began what has become know as The Human Genome Project which is "the mapping of all our 80,000-100,000 genes and decoding our complete DNA sequence of 3 billion base pairs" (van Ommen et al, 1999). Once this map has been created it will be possible to locate each gene on a chromosome in relation to a marker. In 1994 the Human Genome Project (HGP) had created a complete map of the human genome (Mehlman, 1998). The completion of this did not mean the completion of the project by any means. A lot of work still needs to be done to identify more genetic markers. Since the start of the HGP "nearly all common genetic diseases and a large number of rarer ones have been traced back to one or more defective genes" (van Ommen et al, 1999).

The completion of the HGP holds a lot of promise for the medical field. "In the distant future lies the possibility of developing specific therapies for disorders, such as cancers, upon knowing its genetic structure" (Mehlman, 1998). Diagnostics is the first area that has really benefited from the work of the HGP. With the HGP it has become easier to tell if an individual is suffering from a genetic disease or if an individualís DNA contains genetic material predisposing them or their children to specific genetic disorders. "Ultimately we should be able to identify and accurately test for all genetically related maladies" (Mehlman, 1998).

Introduction to Genetic Testing:

Genetic testing existed even before the commencement of the Human Genome Project but has rapidly increased in its abilities with the newly discovered information the project provides. The US Task Force describes genetic testing as "the analyses of human DNA, RNA, chromosomes, proteins, and certain metabolites in order to detect heritable disease related genotypes, mutations, phenotypes, or karyotypes for clinical purposes" (Zimmern, 1999). Prior to the advances in genetic testing technology diagnosis of disease was "based upon observation of the patientís condition, supported by the results of laboratory tests on blood and tissue samples" and sometimes a family history study (Mehlman, 1998). Now genetic testing doesnít require such extensive searching. It is possible to detect the presence of or probability of developing genetic disorders. "Diseases amenable to genetic testingÖinclude heritable conditions, acquired genetic conditions and diseases caused by infectious agents" (Mehlman, 1998).

It is too simplistic to think of a gene mutation as the cause for a genetic disease. Many genetic diseases are polygenic or multifactorial meaning that genes interact with other genes and environmental factors in order to cause the disorder. Some examples of polygenic or multifactorial diseases are diabetes, asthma, manic depressive disorder, and schizophrenia. In such cases genetic testing is of little use unless the test can also "detect other genes that contribute to the illness, or unless clear environmental factors can be identified" (Mehlman, 1998). Even if the tests could detect, with certainty, polygenic diseases it would not solve the problem because it will not treat or cure the uncovered disease. It can only identify it. More research will have to be done to attempt to discover treatments.

In order to understand discussions about genetic testing there are a few terms, relating to different types of genetic testing, that need to be understood.

Definitions:

* "Genetic testing- testing to detect presence or absence of, or alteration in, a particular gene sequence, chromosome, or gene product, in relation to genetic disorders" (Web 2).

* "Pre-symptomatic genetic testing- testing of healthy, asymptomatic individuals to provide information about that individualís future risk of certain specific inherited diseases" (Web 2). Usually performed on individuals who are at risk for autosomal dominant disorders but not exclusively. Sometimes referred to as predictive genetic testing.

* "Carrier testing- testing unaffected individuals to determine whether they are carriers of a gene for a recessively inherited disorder and thus at risk of having an affected child" (Web 2).

* "Susceptibility testing- provides information about genetic component in a multifactorial disorder" (Web 2).

* Genetic screening- testing done to a population or entire groups of people who are not necessarily at risk as individuals.

Genetic tests are performed for multiple reasons. One main reason is to determine the identity of a disease or disorder thus helping confirm medical tests and allow doctors to correctly treat patients consistently and with increased certainty. The tests may also help in determining the severity of the disease. Acquired genetic diseases such as many cancers may be characterized by genetic tests which may then provide information about the course of the disease and help in determining how rigorously to treat the patient (Mehlman, 1998). If the identity of a genetic mutation is known preventative measures may be taken to decrease symptoms or delay onset. Testing may become helpful in some cases of late onset diseases such as kidney disease or Huntingtonís Disease as well as cases of diseases present from birth. The possibility is even there to speed up the process of diagnosis of infectious diseases because bacteria, viruses, fungi, and parasites all have different genetic material. Testing for these would most likely eliminate the 24-48 hour growing period prior to diagnosis which would in turn help avoid the appearance of resistant strains by using host specific treatments (Mehlman, 1998).

Another reason for genetic testing is pre-symptomatic testing to identify individuals who are at risk for future illness. DNA based diagnostic tools may be used "in children in whom a heritable genetic condition is suspected since most inherited illnesses appear in childhood " (Mehlman, 1998). The idea behind pre-symptomatic testing is to give individuals a chance to prepare mentally, emotionally and financially for future illnesses they may develop.

A third reason genetic testing is done is to inform couples who may have a child with a major genetic disorder. Testing helps enable parents to decide whether to have a child or not based on the chance their child will have or develop a genetic disease. This is especially helpful if the parent knows they have a heritable genetic disease themselves. Testing can also be done on the potential child if the couple does decide to have a child. These tests can be performed at various stages along the way. Pre-implantation diagnosis has increased with the discoveries of the HGP. A couple can use reproductive technologies such as in-vitro fertilization to produce an embryo which they then have tested to see if there are any diseases present. Only embryoís that do not have diseases are implanted into the uterus (Heller, 1996). Prenatal testing is another type of testing that is frequently done. It can allow parents to prepare themselves emotionally and financially if they are going to have a baby with a disorder. Some couples may choose to simply abort any child with a disease- one of the downsides of technology. This is one reason that many people are beginning to prefer pre-implantation diagnosis over prenatal testing because it avoids abortions because the embryo is never implanted. This in turn "avoids the maternal risk and emotional trauma of an abortion" (Heller, 1996). At present, pre-implantation diagnosis/testing can check for multiple diseases such as Huntingtonís Disease, Cystic Fibrosis, Tay-Sachs, Hemophilia, Fragile X, Ducheneís Muscular Dystrophy, Retinitis pigmentosa, Turner Syndrome, Downís Syndrome, and several others (Web 1). An issues that arises with pre-implantation diagnosis is that it gives people of this generation much power and control over the future generations in that they can decide who lives and who does not (Heller, 1996).

Issues Surrounding Genetic Testing:

Genetic testing raises a lot of issues for many people. Some even believe that because of the rate at which things are progressing, "we are ill-prepared as a society to deal with many of the complex problems that will arise from advances in genetic technology" (Mehlman, 1998). A big issue for some people is that of personal privacy. Due to "the vast amounts of information generated by these new tests there is concern that it will be difficult to maintain any semblance of privacy and confidentiality in the medical records of individual patients" (Heller, 1996). Others are concerned that if special efforts are taken to maintain privacy and confidentiality, there will be a significant increase in costs because health care workers will need to be trained on how to properly handle the information they are given. It may be possible for a doctor to take a routine blood sample and from that find out everything about an individualís genome. This information reveals a lot about a person that not just anyone should have a right to know because it could lead to discrimination, which will be explored in depth later. New born testing raises the issue of privacy rights because of the "blood samples taken from babies, since they are stored for future use without informed consent from tissue donors" (Drlica, 1994). Even though these "sample bank[s] [have] a reasonable purpose the people contributing the samples as well as their relatives have lost control over access to their genetic information" (Drlica, 1994). This concerns many people because they have no idea who might get their hands on genetic information and what might be done with it. Third parties such as the government, public health workers, family members, insurers and employers have interests in the results from genetic tests. The government and public health workers may want the information in order to come up with stats for the frequency of the presence of a particular disorder within the country or within particular sub-groups of the country. They may also want it in order to know what type of need there may potentially be for treatment facilities and resources (Mehlman, 1998). Family members may be concerned because of the implications that a positive test for a certain genetic disease may have on them.

Another issue of personal privacy surrounding genetic testing is that of population testing. "Once specific genes have been isolated for the more common conditions, it will be possible to perform population screening for these abnormalities" (Mehlman, 1998). The issue behind this is that many people fear that they will be singled out as having a disease because they are part of a particular population which was tested for an abnormality (Elliot, Mar 95). This raises the question as to what circumstances make genetic screening worthwhile.

Genetic testing can provide a host of information about an individual such as predisposition to future illness. Should this information "fall into the wrong hands- insurance companies or prospective employers, for example, they could use it to gauge whether we are a ëgood riskí" or not (Ward, Jan 93). Many individuals are afraid of the desire that insurers and employers have to know genetic information because they fear that it will lead to discrimination.

In the future "insurers may require applicants for insurance to be tested to determine their susceptibility to genetic disorders" (Mehlman, 1998). They may then use the information gained from the test to refuse insurance to individuals who test positive for specific things or they may use the information to charge high premiums. Cases already exist "where insurance was denied because a genetic disease was considered a pre-existing condition." Elliott argues that "almost all genetic flaws could be considered to indicate pre-existing conditions, even diseases such as Alzheimerís, which may not appear until advanced age" (1995). If insurance companies can deny coverage simply on the basis of our genetic codes, eventually it will cover little more than broken bones or other such incidents.

Insurance companies believe that they are simply looking out for their best interest in doing this. "[They] argue that unless proposes are required to disclose genetic test results companies will be at risk of adverse selection," which is an increase of high risk clients causing an increase in premiums driving away the low risk clients (Web 2). Insurers are not sure what to do about deciding what counts as a pre-existing condition. Some people argue that increased premiums should not be allowed for things which an individual has no control over (i.e. genetics) but in the past, age, sex, and medical histories have been used to set premiums. "Insurers argue that consumers are protected from unfair or unreasonable discrimination by the existence of a highly competitive market" (Web 2). Despite the assurance of insurance companies many people still fear that their genetic information will be held against them. This fear of discrimination could cause people to avoid treatment in order to keep from tainting their medical records. It could also cause people to avoid testing and receiving early treatment (Drlica, 1994). "It is unclear how company medical advisers can be expected to determine risk levels for those with complex genetic profiles" or for those whose genetic profiles indicate that they may develop some disorder later in life (Web 2).

Some states have taken some action toward preventing discrimination by insurance companies. They have instated laws which protect individuals from being denied coverage based on their genetic make-up. There are even some that prohibit insurers from requesting the results from genetic tests. There are "two factors [which] Limit the protection against discrimination afforded by current state laws. First, the federal Employee Retirement Income Security Act exempts self-funded plans from state insurance lawsÖSecond, nearly all of the state laws focus narrowly on genetic tests, rather than more broadly on genetic information generated by family history, physical examination or medical record" (Hudson et. al., 1995). So even with these laws people are not completely free from the fear of discrimination based on their genetics.

As was mentioned earlier, employers also have an interest in knowing an individualís genetic make-up. There is a hesitance about sharing such information with them because they "may refuse to hire persons with genetic predispositions to disease in order to avoid having to pay the cost of future treatment either through higher premiums or in the form of direct payments by employer self-insured health plans" (Mehlman, 1998). Drlica states that it is rather easy to understand why potential employers might discriminate "by avoiding workers who have costly health problems a company can save large sums of money in disability claims and health insurance costs" (1994). Some employers have used the following as reasons they feel they should know an individualís genetic information; to know their employeeís chance of future absence due to illness, to know of conditions that could put the employee at risk in the work place, to be aware of workers who might have a heightened sensitivity to the environment of the workplace (i.e. allergy to certain chemicals) (Web 2).

The fear of discrimination does not lie simply with insurers and employers but society as a whole also has the potential to discriminate against people. This has been made very clear through racism issues, womenís equality issues, and other such things. Daniel Kelves asks, "Will the ability to analyze the genetic structure of individuals be used to try to define improved individuals and thus fan the flames of racism?" (Kelves, 1992). There are those who fear that the overall effect of these problems (genetic disorders) may create a class of genetically vulnerable people who could easily face discrimination, stigmatization, and psychological trauma on the basis of their genetic make-up" (Heller, 1996). Genetic testing can be a positive thing for newborns in cases such as PKU where retardation can be prevented with a special diet, but for other diseases for which they are a carrier such as sickle cell, they may be unnecessarily labeled as diseased. The same is true of carrier testing for any individual. "Often discriminatory behavior [such as this] is based on a misunderstanding of the disease"(Drlica, 1994). People may tend to forget that a carrier is a perfectly normal individual.

Another factor that plays into all of the different forms of discrimination based on genetic make-up is that genes are not the only factors that play into a disease. Therefore someone with the genetic make-up for a specific disease may not actually develop the disease because other factors are do not accompany it (Elliott, 1995). One needs to keep that in mind when they are dealing with information from genetic testing in order to attempt to avoid mistakenly classifying someone. A question that arises from these different issues of discrimination is "who defines what is normal?" Insurance companies? Doctors? Employers? Or society?

A third issue surrounding genetic testing is that of eugenics. People have become sensitive to ways in which science, especially genetics, may be abused because of the eugenics movement in western countries (i.e. National Socialism in Germany). Many people see a potential for "weeding out of genetic undesirables" from society. The Congress Office of Technology Assessment notes that "new technologies for identifying and altering genes make it possible for eugenic goals to be achieved through technology as opposed to social control" as in previous attempts at eugenics (Annas, Spring í93).

"Eugenics arose from an idea called Social Darwinism, premised on Darwinís theory of evolution" that only those most fit to survive will survive, while those least fit will be killed off or die, thereby improving the quality of the species. The United States has a law allowing "society to sterilize ësocially inadequate classesí" such as the feeble-minded, criminals, insane, alcoholics, drug addicts, persons with TB or syphilis etc. (Ward, 1993). According to Ward may of these laws are still on the books even though they are not enforced.

In this day and age, of advanced technology, eugenics can most easily take the form of pre-implantation diagnosis and prenatal testing. "Now that DNA tests are available, screening programs can identify afflicted fetuses, and through abortion they can reduce the incidence of genetic disease" (Drlica, 1994). Genetic testing of in-vitro fertilized eggs (at approx. the 4 cell stage) brings up ethical issues along the lines of the age-old debate; "when does life begin." As was stated before the purpose of prenatal testing is to provide parents with the option of aborting a fetus with genetic diseases. By allowing parents to do this we are in effect giving parents the power to determine the genetic make-up of the future generations. Contrary to common thought, screening and abortion of fetuses with genetic disorders does not rid the population of the gene because carriers may pass the gene on even though they do not develop the disease themselves (Drlica, 1994). So if we are to eliminate certain diseases from society screening and abortions will have to continue indefinitely.

A fourth issue emerging due to the increase in genetic testing is how to relay the information to the patients in an understandable manor. On many occasions patients have found genetic information difficult to understand and have therefore misunderstood their test results (Mehlman, 1998). Their misunderstanding of the results caused them to be frightened unnecessarily. Because of this Thomas Lee believes that "screening programs as well as individual genetic tests require careful, clear explanations of the results" (Lee, 1993). More and more frequently it is being encouraged that genetic counseling accompany tests in order to help patients better understand the meaning of their tests and to have someone to turn to when things get overwhelming. When Genetic Counselors are thrown into the middle of issues like this they have a difficult job because many are not sure who the patient is- the individual, their family (immediate or extended), or potential spouse (Kelves, 1992). All of these parties have interest in the results of a genetic test because it may have implications for them as well in one way or another. Another dilemma counselors and patients find themselves facing is whether it is beneficial or burdensome to know if one is a carrier. In the case of some diseases such as Huntingtonís disease, which is autosomal dominant, and for which there is no treatment the decision becomes difficult. On the one hand it would be helpful to know when thinking about having a child, but on the other hand it may be difficult to handle the knowledge that you are going to develop a terminal illness and there is nothing that can be done about it. Is a Genetic Counselor required to tell the patient everything that was discovered in their genetic test? Do they have a responsibility to the rest of the patientís family to disclose the information discovered? It all goes back to the issue of personal privacy because there may be some people who would not feel comfortable sharing their results with their family for one reason or another. Deciding what to do with the information gained from genetic testing is a dilemma for many people.

Steps Toward Dealing With the Issues Present:

It is important to have a system set up to help sort through and deal with the issues arising due to advances in genetic testing. Between 3 and 5 percent of the budget for the Hunan Genome Project is set aside for exploring, researching, and education on the ethical, legal and social issues that are part of the project (Annas, 1993). A good portion of the work done by this group of people has focused on genetic testing (Mehlman, 1998).

The 4 fold mission of the ELSI (Ethical Legal and Social Issues committee)

* To anticipate and define the implications expected of the HGP for individuals and society (Heller, 1996);

* To examine ethical, legal and social sequelae of mapping and sequencing the human genome (Heller, 1996); (sequelae, as defined by Merriam             Webster, is a secondary result (Web 3)).

                    * To stimulate public discussion of the issues thus identified (Heller, 1996);

* To develop policy options to assure the information produced by HGP is used for the benefit of individuals and society. (Heller, 1996).

In addition to the ESLI the Task Force [organized by the Department of Energy on genetics and insurance] was charged with studying "the likely impact of increased ability to predict future illnesses on insurance practices, especially access to health, life and disability insurance" (Lee, 1993).

Some believe that "although the Working Group on the Ethical, Legal and Social Implications of the Human Genome Project can grapple with complex issues in meetings, it has no enforcement powers, no means of establishing policy" (Holloway, 1995). So despite the fact that the ELSI is working with potential ethical, legal, and social implications peopleís fears are not eliminated.

Implications of Genetic Testing to Christians:

The rapidly advancing field of genetic testing will eventually effect all people. A Canadian physician Perry Phillips sees genetic testing, especially pre-implantation genetic testing, as "the beginning of the end of genetic disease" (Web 1) because "today eliminating disadvantages begins in the womb or even earlier in the egg or sperm" (Ward, 1993). Christians may have issues with this because it implies that a form of eugenics is taking place- the selection against certain individuals or diseases. It also implies that abortions are being done in this selection process. The hidden message behind prenatal testing and abortions is that "youíre going to cost society" (if not aborted). This reduces one's freedom not to abort when the diagnosis is bad (Meilaender, 1990). Christian communities, in general, view people as important not on the basis of how much they will cost society but simply on the basis that they are one of Godís creations. Another issue with testing, especially prenatal testing is that parents become "responsible" for the quality of their child, when in reality God is the ultimate creator and therefore responsible (Meilaender, 1990). Therefore a lot of what genetic testing is doing goes against what many Christians believe.

Carrier testing may eventually be done on teens to assure their potential spouse that they are compatible (in terms of having children). This has not yet happened in the US but there is a Jewish community in Eastern Europe, which has a high risk for Tay-Sachs disease but is opposed to abortion and contraception, has a tradition of arranged marriages. In order to decrease the incidence of the disease within their community they devised a system which requires all youth to be tested for carrier status when they reach maturity. The information is kept completely confidential. Each individual is given a number and the information is kept at a registry. A matchmaker then asks the registry to check the numbers of two individuals to see if they are both carriers. If they are then the matchmaker seeks other marriage partners for those individuals (Elliott, 1995). Is this a system that more communities should try? Is avoiding diseases important enough to those of us in the Christian community to go to such lengths?

Do the potentials in genetic testing outweigh the issues that arise because of it, from a Christian point of view? This is a difficult question to answer because it is easy to look at one side of the issue and see either all of the positives or all of negatives, but it is not easy to weigh both sides at once. From my personal standpoint as a Christian, genetic testing, although it has much potential for good, it has too many uncertainties and issues to be worthwhile. The idea of parents being able to select against a child because it has certain genetic characteristics makes me uneasy. Christians are called to love all people; I do not feel that decreasing the population of certain diseases or disabilities is a way of loving those who do have those diseases. The smaller the population of people is that have a certain disorder, the more likely they are to be discriminated against or thought of as freaks. I feel that genetic testing to aid in diagnosis is a good use of the technology but too much information comes along with the tests. I think that each person should weigh the issues for themselves and make a decision based upon their faith as to whether genetic testing is something that they want to support or avoid. Before voluntarily getting genetic testing done, one should consider the risks involved with uncovering an incurable disease. Will they be able to handle that news? Will they be required to share that information with their insurance company or employer? I think that every individual should be well informed of all of the issues that may face a person getting a genetic test done. I agree with Meilaender, who said that we should use this technology to turn against disease but not against people who have the disease (1990). He also says, "we need the virtue of love. Love- that can say, without qualification, to another: "It's good that you exist." Love- that in its open-hearted acceptance restrains the urge to transform and remake. Love- that is willing to be godlike when confronted with diverse aims and even the suffering of our children, willing, that is, sometimes to bear suffering rather than simply do away with it" (1990). I think we need to let our system of morals and values catch up to our technology before much more advancing is done.

Conclusion:

Genetic testing is a rapidly growing area within the field of genetics. As genetic testing becomes more prevalent many ethical, legal, and social issues arise. Genetic testing can be used in diagnosis of unknown diseases, detection of possibility for future illness, or in testing for compatibility of partners. With each of these come the issues of personal privacy- who should have access to a personís genetic information? If sharing genetic information is required the potential for all kinds of discrimination by insurers, employers and society as a whole. As genetic testing is used more frequently the issue of eugenics becomes more of a question as well. Should individuals be given the ability and freedom to select against certain types of genetic disorders? All of these issues are things that are being addressed by the ELSI of the Human Genome Project and are things that need to be thought about carefully by the Christian community as well as society as a whole before too much more action is taken.
 
 

Bibliography

         Elliott, Jeff, "Genetic Dilemmas." World & I, Mar95, Vol. 10 p. 212-217.

Web Resources: