Human Genome Project May Be

Human Genome Project may be the most controversial research project in modern medical or scientific history.

The project began in 1990 at the National Institutes of Health and was headed by James Watson. However, the project was not only a U.S. project, nor was it only a government project. The National Institutes of Health worked with other governmental and private interests, mainly in the United States, Canada, and Great Britain. The most notable of those private companies was Celera Genomics.

The purpose of the project was to map an entire human genome. In addition to human genomes, the project studied E. coli, fruit flies, and lab mice, and sought to map their genomes, as well. Genetic mapping refers to the determination of the sequence of pairs making up DNA. In addition to determine the location of the genes within the sequence, genetic mapping also sought to determine the function of those genes, as well. It is hoped that genetic mapping will lead to medical advances, including disease prevention and resolution. However, genetic mapping brings with it its own moral, ethical, and legal dilemmas. While all medical research brings up a certain amount of ethical uncertainty, the ethical dilemmas connected with genetic research are sufficiently unique that some have suggested that they are sufficient to argue against genetic research. Others disagree with that position, and suggest that the potential benefits of the Human Genome Project are so great that it would be unethical not to conduct such research. There are certain major challenges for genomic research. Those include: intellectual property issues surrounding access and use of genetic information; intellectual property issues surrounding access to and use of genetic information; ethical, legal, and social factors influencing the translation of genetic information to improved human health; issues surrounding the conduct of genetic research; issues surrounding the use of genetic information and technologies in non-health care settings; the impact of genomics on concepts of race, ethnicity, kinship and individual and group identity; the implications, for both individuals and society, of uncovering genomic contributions to human traits and behaviors; how different individuals, cultures and religious traditions view the ethical boundaries for the uses of genomics. (National Human Genome Research Institute). The stated goal of the Human Genome Project is to improve human health, but, in order to fully achieve that goal; the National Human Genome Research Institute (NHGRI) has to couple "its scientific research programme with research into the social consequences of the increased availability of new genetic technologies and information. Translating the success of the HGP into medical advances intensifies the need for proactive efforts to ensure that benefits are maximized and harms minimized in the many dimensions of human experience." (Collins, Green, Guttmacher, and Gruyer, p. 835).

Ethical Concerns

One of the first ethical concerns concerned with mapping the genome is the information that it can give to the patient. Knowing what gene causes an illness is a far cry from knowing how to solve that illness. Therefore, is it ethical to inform a person that they have an incurable genetic disease? On the one hand, "the knowledge that one has a genetic disease which has no cure may help in decisions about child bearing. Yet, it also affects the psychological well being and the social status of a potential carrier." (Pun, p. 164). For some people to find out news of an incurable genetic illness

Another ethical concern is the idea that eugenics will once again become fashionable. Though eugenics has been around for centuries, its modern version was created by Francis Galton. He "proposed that the human race might be improved in the manner of plant and animal breeding- that is by getting rid of so-called undesirables and multiplying the so-called desirables." (Kevles, p.15). Of course, the determination of what is considered a desirable trait is oftentimes linked to what group is in power. For example, the backbone of the genetics movement "was formed of people drawn from the white middle and upper middle classes, especially prominent laymen and scientists, particularly geneticists and often physicians. (Kevles, p.15). Not content to concentrate only on genetic issues, these eugenicists linked social degeneration with biological causes, despite the fact that they did not have any genetic evidence to do so. While it would appear that the HGP's extensive research on the human genome would prevent that from recurring, the fact is that there are certain genetic diseases that are more prevalent in minority populations, which would give a good starting place for racially-motivated eugenicists. In addition, the reality is that eugenics has a very negative history when it is put into practice. Little has been done to motivate positive eugenics, or the "improvement" of the human race through selective breeding. However, untold horrors have committed to perpetuate negative eugenics, or the efforts taken to prevent certain people from having children. "By the late 1920s, some two dozen American states had enacted" eugenic sterilization laws." (Kevles, p.18). While those laws may seem horrific, they pale in comparison to the outrageous things done in Nazi Germany, where eugenic research went hand-in-hand with Nazi biological policy, and supported the annihilation of the Jewish race as a goal for the betterment of the human race. (Kevles, p.18). While it may be unlikely that the world will ever face another situation as grim as the genocide that occurred in Nazi Germany, the fact is that countries continue to apply eugenic policies. For example, in 1984, Singapore's prime minister offered incentives to highly educated women to have children, and offered similar incentives to less educated women who agreed to sterilization after having their first or second child. (Kevles, p.19).

While eugenics may not be an issue on a national scale, it is already being used on an individual scale in individual families. Although many women are waiting until later in life to have children, the nation has not seen the increase of disabled babies that one would expect to see with older mothers. That is because "the advance of human genetics and biotechnology has created the capacity for a kind of 'homemade eugenics,'," where people can select the type of children they want to have. (Kevles, p.25). Right now, "the kinds they can select are those without certain disabilities or diseases, such as Down's syndrome or Tay-Sachs." (Kevles, p.25). In fact, already, "In Britain, more babies with Down syndrome are aborted than are allowed to be born. In America, more than 80% of the babies diagnosed prenatally with Down syndrome are aborted." (Wills, A27). What is even more alarming is that this trend seems to spread towards other disorders, once the technology becomes available to identify those disorders in utero. As of October 2008, a new fetal DNA testing process called comparative genomic hybridization was being introduced to search for less common genetic disorders, which are often missed by standard genetic analysis. (Stein, A01). These tests can detect about 150 known genetic disorders. Given the response to the prevalent prenatal detection of Down syndrome, it seems highly unlikely that these diagnoses will not result in more abortions of afflicted fetuses. Therefore, it is obvious that, at least on an individual level, increased genetic research will, unfortunately, may lead to an increase in eugenic behavior.

However, genetic research has also made it possible for people to have children in situations where it would have been considered too risky for them to consider it, otherwise. Certain conditions are strongly linked to genetics, but that does not mean that every particular child of those parents will have that genetic condition. For couples at an increased risk of having a genetically abnormal child, there is a fertility procedure called preimplantation genetic diagnosis, which can screen embryos for genetic diseases prior to implantation. Some diseases are incompatible with life, leaving potential parents with the heartbreaking choice of ending a pregnancy or carrying a pregnancy to term only to watch the child die within hours or days of birth. By screening for these types of disorders prior to implantation, preimplantation genetic diagnosis can prevent that from occurring. This procedure might actually make it possible for people to reproduce when it would be difficult, if not impossible, to do so without medical intervention. As a result, while it is clear that the Human Genome Project may lead to an increase in eugenic behavior, it is equally clear that genetic research can lead to increased reproductive opportunities for genetically abnormal individuals.

One does not have to take a eugenic stance to allow factors like race to impact health decisions made in accordance with new genetic discoveries. For example, who gets an organ transplant is frequently based on who makes the best tissue match. However, an increased understanding of the human genome has led to the use of antigen matching to help determine who gets a kidney. The problem with that is that:

In terms of equitable distribution of kidneys among blacks and whites, the use of antigen matching as a critical factor in allocating kidneys means those who are members of minority groups have a lower probability of receiving a transplant. Since the antigens are closely linked to race and ethnicity, it is much easier to find a biological match among people with similar ethnic and racial backgrounds than it is among any two randomly selected individuals. On the basis of tissue matching, organs from blacks will almost always go to blacks and organs from whites will almost always go to whites. Blacks, however, have a much higher incidence of kidney failure than whites. But since whites significantly outnumber blacks in the American population, there are still large numbers of whites waiting for organs. There are so many, in fact, that nearly every white donor is matched to a white recipient. Blacks and other minorities must rely on a much smaller pool of kidneys. The situation for potential black kidney transplant recipients is made even worse by the fact that blacks have a lower rate of cadaver organ donation than do whites. So there is a disproportionately small share of black cadaver kidneys available for a disproportionately large group of blacks in need of kidney transplants. By deciding to use biology in the name of efficiency and, it must be added, fairness, whites wind up with a much larger number of kidney transplants than do blacks relative to the incidence of renal failure in both groups. (Caplan, p. 33-34).

The HGP can impact race in a non-medical way as well. Currently, members of ethnic groups either self-identify or are identified by others due to physical markers or characteristics. For example, in America, a dark skinned person with certain features, such as thicker lips or kinky hair, is presumed by people to be African-American and is treated like an African-American, regardless of actual genetic heritage. However, people may actually not have the genetic heritage to support an existing racial or ethnic identity, which begs the question: "Should knowledge generated by the genome project be used to identify, classify, or label racial or ethnic groups or to establish the boundaries of their membership?" (Caplan, p.40). Furthermore, if people are screened or selected for race, should genetic/biological definitions be used or will cultural and political definitions prevail? (Caplan, p.40). If genetic definitions prevail, then it is likely that people who culturally identify with certain races will be excluded from those classifications because DNA studies have not revealed classifiable races in modern humans; though some alleles are more highly identified with certain subgroups of people, some members of those subgroups will not have those alleles, and some people outside of those subgroups will have those alleles.

The largest ethical issue related to the Human Genome Project is the looming specter of human cloning. While the cloning of an entire human being may be impossible anytime in the foreseeable future, and animal clones have repeatedly had some health issues that were not present in the original animal, the idea of human cloning is more of a grey area than opponents would have one believe. After all, cloning does not have to be of an entire person. In fact, proponents of cloning rarely suggest that one should clone an entire person. On the contrary, they suggest that cloning would be appropriate to replace single failed organs, because a cloned organ would not be rejected in the way that donor organs are rejected.

Legal Concerns

One interesting legal issue is whether the state could require or, conversely, prohibit certain types of genetic testing. For example, some genetic conditions make a person far more susceptible to certain disease; should the government be allowed to require people to get those tests? It is unlikely that the government would ever require every individual to submit to random genetic testing, but there are certainly situations where other stakeholders might want to insist upon mandatory testing. For example, the costs of preventative medicine are often considerably lower than the costs of treatment. Therefore, it is imaginable that insurers might push for mandatory genetic testing, so that they could deny coverage to those who did not comply with preventative medical recommendations for certain conditions. It is conceivable, for example, that, if genetic testing were mandatory, an insurer could deny breast cancer treatment coverage for all females testing positive for the breast cancer gene who refused to undergo a preventative double mastectomy, even though not all people who carry the gene will develop breast cancer.