Human Genome Project

Genes are often described as the biologic blueprints or recipes for life. DNA, in which the genes are found, carries genetic information from one generation to the next and encodes the basic plan that will fashion from single cells a human, a butterfly, or a fungus. Current research in biology is beginning to crack this DNA code, leading eventually to a fundamental understanding of many biologic processes.

There is every reason to believe that this understanding will permit control over many biologic processes, and biologic control will transform medicine, agriculture, animal husbandry, pharmaceutical production, and, perhaps, all other human endeavors that involve living organisms. Whether or not this type of therapy proves to be feasible, there is no doubt that our descendants will view our response to many diseases as crude at best. Cancer chemotherapy, radiation, and surgery are burdensome and often ineffective because of our lack of basic biologic knowledge.

Autoimmune diseases, many blood diseases, heart disease, hypertension, metabolic diseases, many degenerative diseases, and, perhaps, a variety of psychiatric conditions will be exposed for effective attack when their basic biology is better understood. In order to understand the genetic revolution that is now underway, it is necessary to understand the basics of human genetics and in particular the federally funded research endeavour called the Human Genome Project.

In the 1980s, 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. In addition, technology was emerging that gave scientists confidence that such a massive undertaking could be successful. The debate in the scientific community over whether to pursue this goal led to key reports in 1988 by the National Research Council of the National Academy of Sciences (Institute of Medicine 21-22) and the Congressional Office of Technology Assessment (United States Congress).

Both supported the idea, and, despite a few voices of concern in the scientific community, Congress allocated funding for the creation of what became known as the Human Genome Project. To oversee the work, a new organization was established at the National Institutes of Health called the National Center for Human Genome Research. A smaller portion of the project was delegated to the U. S. Department of Energy, based on that agency’s experience with genetic research related to radiation effects and its background in computer science. James D. Watson, Ph. D., the famous codiscoverer of the DNA double helix, was recruited to direct the NIH effort.

Watson has been enthusiastic about the prospect of seeing scientific knowledge expand from the elucidation of the basic structure of DNA (in 1953) to a complete catalogue of the three billion base pairs in the human genome–all to be achieved within the lifetime of one scientist. It bears some emphasis that the scientific work of deciphering the basic structure of human DNA has been going on for decades and would have proceeded inevitably towards the same goals without the organized effort of the Human Genome Project.

The advantage of the Human Genome Project is that it has attracted extra funding to the work, raised the profile of the effort within the scientific and lay communities, and provided elements of organization and cooperation that would not have occurred with individual scientists pursuing projects based on their personal interests. An additional advantage of a high – profile Human Genome Project has been the recognition that we are ill-prepared as a society to deal with many of the complex problems that will arise from advances in genetic technology.

The eugenics movement in the United States and other Western countries, and the support that eugenics philosophy gave to the horrors of National Socialism in Germany, have made many people appropriately sensitive to the potential abuses of genetic science. Beyond abuses, there are basic problems in the application of genetic knowledge in medicine and society, including issues of the benefits and harms of testing and screening, issues of privacy and confidentiality, issues of regulation, and issues of justice in access to these powerful new tools.

Three to five percent of the Human Genome Project funds have been allocated to conduct research and education on the ethical, legal, and social implications of human genetic research. To date, this “ELSI Program” as it is called, has invested more than forty million dollars toward these goals. The goal of the Human Genome Project is to “map” and “sequence” the entire human genome. An often asked question is whose genome will be sequenced in this project?

The answer is that while a single or limited number of individuals may be used as a reference standard for sequencing efforts by many laboratories, the knowledge gained will be applicable to us all. As noted, there is considerable variation from one individual to the next in the sequence of their genes and in the sequences of “junk DNA” between genes. Nevertheless, it is assumed that the basic organization of human DNA is the same in all people. Identifying where the genes lie and what their functions are in one individual will reveal the location of the same genes in virtually all other individuals.

Here the analogy of human anatomy is useful again. We all have some variation in the structure of our kidneys, brains, hearts, and other organs, but a detailed anatomic study of any of us would yield useful information about how all of us are built. Subsequent research will be necessary to determine whether the variations that are seen between individuals represent abnormalities or only benign variants. In fact, the basic structure of DNA is similar in organisms that are not too distantly related to humans from an evolutionary perspective.

One of the primary goals of the Human Genome Project, for example, is to map and sequence the genome of the mouse. The mouse, a fellow mammal, possesses DNA and a genetic structure that are remarkably similar to those of humans. Further, mice reproduce rapidly, producing large numbers of progeny, and, unlike humans, mice can be mated and manipulated as investigators see fit. Studying the sequence of the mouse genome can provide important information about the human genome. The Human Genome Project and the great strides that have been taken in molecular biology in recent years have produced an enormous excitement in the scientific community.

A complete map of the human genome was completed in 1994, although additional work is necessary to identify more markers. While the public has been informed of many of the genetic discoveries as they have rolled out of the labs, the real results remain in the future. Nowadays, the Human Genome Epidemiology Network (HuGENet) provides an international network that is “committed to the assessment of the impact of human genome variation on population health and how genetic information can be used to improve health and prevent disease”.

Works Cited

Fine, M.J. , Ibrahim, S. A. , Thomas, S. B. “The Role of Race and Genetics in Health Disparities Research. ” American Journal of Public Health. Washington: Dec 2005. Vol. 95, Iss. 12; pg. 2125, 4 pgs Institute of Medicine, Committee on Assessing Genetic Risks, “Assessing Genetic Risks: Implications for Health and Social Policy. ” Washington, D. C. : National Academy Press, 1994. United States Congress, Office of Technology Assessment, “Mapping Our Genes-The Genome Project: How Big, How Fast? ” Washington, D. C. : U. S. Government Printing Office, 1988.

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