Abstract This is a high level paper which examines the HumanGenomeProject and it's implications for pathophysiology. The paper examines the project goals and outcomes over the 13 years of the program, in addition to a central focus on the implications for pathophysiology, ranging from medical testing for high risk parents to early diagnosis and intervention for genetic abnormalities or predispositions.
From the Paper "The Human Genome Project was a huge undertaking with results of the growing medical technological era enabling genetic study or advances in medical science requiring medical technology to keep pace. Genetic study and research offers tremendous promise for various pathologies. This paper will explore a brief review of the program and follow with a high level discussion of the various implications the program holds for the field of pathology. Conducted by the US Department of Energy and the National Institute of Health (NIH), The Human Genome Project was a major long term project which began in 1990 and concluded in 2003 ("About the Human," 2005)."
Abstract This paper presents an overview of the HumanGenomeProject. The paper begins by listing the project sponsors and explaining that the project's primary purpose was to map the humangenome. Next, the paper briefly explains what a genome is and notes that the project was completed in 2003. Additionally, the paper explains that another objective of the project was to identify all of the genes in the humangenome and that, at the heart of all of these objectives, was the goal of advancing the diagnosis and prevention of diseases, and advancing biotechnology and fundamental knowledge in medicine. The paper also discusses the controversial issues surrounding the HumanGenomeProject as well as social and ethical considerations of the project. Finally, the paper looks at the project's implication regarding the topic of evolution and concludes that, despite the controversy enveloping the project, its benefits exceed its disadvantages.
Table of Contents
Controversies
Accuracy of the Project Societal Effects of the HumanGenomeProject Ethics and the HumanGenomeProject The HumanGenomeProject and Evolution
From the Paper "As with many scientific advances and projects, there are many points of contention surrounding the Human Genome Project. These controversies range from arguments about whether the HGP should exist at all to minor quibbles regarding the project's inner workings. Below are descriptions of two of these contested issues."
Abstract This paper analyzes the U.S. HumanGenomeProject and how this technology might effect the individual in the future. It looks at the plans of this project, the benefits it claims to have on medical and scientific research and how these advances might impact on humans in the coming years.
From the paper:
"The Department of Energy (DOE) HumanGenome Program and the National Institutes of Health (NIH) National HumanGenome Research Institute (NHGRI) together make up the U.S. HumanGenomeProject. It commenced in 1990 and originally planned to continue for fifteen years. This project will accomplish six objectives. These are to 1) identify all (approximately 30,000) genes in human DNA, 2) determine sequences of the 3 billion chemical base pairs that make up human DNA, 3) store this information in databases, 4) improve tools for data analysis, 5) transfer related technologies to the private sector, and 6) address the ethical, legal, and social issues (ELSI) that may arise from the project. "
Abstract This paper examines the major issues and concerns that have arisen out of the HumanGenomeProject, noting that the concerns within the scientific community differ markedly from those in the public arena. In attempting to address the question of whether the project was ethical or not, the paper takes the position that, like any other scientific endeavour, the attempt to map the humangenome does not belong in the domain of ethics and is not amenable to such analysis. Questions of ethicality, it suggests, apply to the ways in which information is used rather than to the activity of gathering the information itself. The paper proceeds to discuss the desirability (rather than the ethicality) of mapping the humangenome and concludes in favour of the endeavour.
Outline:
Introduction
Issues Within the Scientific Community
Issues in the Public Arena
Discussion
Conclusion
Bibliography
From the Paper "Launched in the late 1980's, the Human Genome Project was an ambitious attempt, involving several nations, to map and sequence the approximately 3 billion nucleotides in the human genome (Gilbert 1992: 85). The genome is the entire set of genes contained in the 23 sets of chromosomes that make up the cells of the human organism. The goal of the project is to identify the precise function of each of the genes in the human genome, or, put conversely, to find the precise location in the genome of every single known human trait or characteristic (Lee 1991: 1). This makes it the largest-scale undertaking in the history of the biological sciences. One of the major benefits of mapping the human genome is that scientists will be able to identify the genes responsible for the more than 3000 known genetic diseases (Keller 1992: 294)."
Abstract This paper discusses the HumanGenomeproject, a project that aims to complete genetic sequencing and gene mapping of the humangenome and resources that humans share through genetic ties. The author relates the advantages of such a project - doctors and scientists will be able to better predict and avoid genetic disorders through genetic screening. However, the author also adds that it is also because of these advancements that ethical issues will arise. The bioethics involved is also briefly discussed in the paper as well as the topic of cloning.
From the Paper "On the potentially positive side, the HGP can help doctors and scientists to better predict and avoid genetic disorders. It is the assumption that in the future genetic disorders from cerebral palsy to bipolar disorder will be able to be seen through genetic screening. It is important though, to outline exactly how this information would be made available to people in the future in the face of ethical issues. Results suggest now that researchers and professionals need to make a stand on ethical issues linked to susceptibility patterns for genetic disorders or psychiatric problems that could be noted through genetics research such as the HGP."
Abstract This paper explains that, when completed, the HumanGenomeProject (HGP) will map the 50,000-100,000 genes contained in the human DNA resulting in the single most dramatic sphere of biological research, which holds the power to change theories and assumptions in the areas of biology, psychology and medicine. The author points out that the early stages of this project already have provided important new information about human genes, resulting in ethical questions requiring carefully judgment about such issues as congenital diseases and privacy. The paper stresses that in cases of clear-cut genetic causation, such as Huntington's chorea and some types of breast cancer, medical professionals and their patients have to make some difficult decisions.
From the Paper "Other questions involve the right of individuals to privacy. Once we have human DNA completely mapped, will we then begin to generate detailed genetic profiles of all medical patients? If we do, is this information that can be shared with other organizations, by, for instance, hospitals? If it can be shared, insurance companies might then drop people with genes that make them prone to certain kinds of cancer, or destined to develop some genetically-driven disease such as Huntington's. In those cases, the individuals would get glimpses into their medical future whether they wanted to know what their genes reveal or not."
Abstract This paper offers an in-depth examination of the HumanGenomeProject. The paper first studies who the project came about, its leadership, funding and oversight procedures. Then the paper discusses how quality control is maintained and how information is shared and disseminated.
Abstract This paper provides an overview and discussion of the current state of genetic technology, with emphasis on the HumanGenomeProject. The microbiological aspects of genomic sequencing are briefly summarized. The focus is mainly on the ethical and social implications of knowing and understanding each gene. It also looks at how this emerging biotechnology is embedded into modern society through complex interactions between several institutions.
From the Paper "The project is a culmination of the application of the results of the past 50 years in genetics. Since the discovery of the structure of DNA (deoxyribonucleic acid), scientists have made two vital conclusions. The genome, containing an individual's DNA sequences, is a map for the physical and behaviourial traits that one has inherited. Therefore, a species' genome is the code to all of its biological faculties (Levi 6). In this sense, the Human Genome Project can be viewed as a necessary and central component to genetic progress, since complete knowledge of our DNA sequence is required to develop biotechnology that is more effective and on a broader scale."
Abstract This paper outlines why the humangenomeproject will reduce the cost of treatment for at least some types of illnesses and diseases - most notably colorectal cancer and breast cancer. The paper details some of the objections historically raised against the project and then delves into the conclusions of others who staunchly insist that it is a worthwhile expenditure of time and money. After reviewing the evidence, the paper concludes that, while the project may not be without its flaws, it is still adding to our basic knowledge about genetic diseases and ie still going to save us lives and save patients and their families money - and that makes it important.
From the Paper "One of the chief concerns that opponents of the Human Genome Project have is that medical research will be adversely affected by the Project because of the massive diversion of time and funds towards something that, in their view, is utterly superfluous. In an April, 1990, correspondence to colleagues, Michael Syvanen of the University of California at Davis (the email was actually posted online by a close associate, Paul R. Chernoff of Berkeley, though it appears to be essentially Syvanen's words and thoughts) outlines this position. Specifically, Syvanen (the letter is co-signed by several colleagues but the top of the letter suggests that Syvanen was the chief writer of the correspondence) insists that most genes involved in disease can be located and accurately sequenced without resorting to the drastic step of sequencing the entire genome; in fact, as early as 1990, promising steps were being undertaken in the battle against disease through genetic research that did not entail the expensive sequencing of the human genome in its entirety. Proceeding onward, Syvanen notes that the rush to sequence the human genome has sparked a scientific environment wherein peer review boards that balk at uncertain and even downright questionable human genome proposals are being muscled aside in favor of appointed administrative bodies seduced by the notoriety of possibly sequencing the human genome - and not by the actual validity of the science appearing before them (Syvanen et al, 1990). For Syvanen and others like him, both in 1990 and surely today, the Human Genome Project is nothing more than a costly "play thing" of scientists who conveniently forget that 95 to 98 percent of the human genome consists of useless, "junk" DNA that simply serves no function at all and has no bearing on whether someone acquires a disease or not (Syvanen et al, 1990)."
Abstract This essay discusses recent discoveries in evolutionary studies, including the humangenomeproject, and will speculate on the impact that these new discoveries will have on evolutionary studies. The paper concludes that we can look forward to substantial and possibly profound breakthroughs in terms of understanding what it is to be human, but warns that we should not expect to find the meaning of life with our microscopes.
From the Paper "For example, since the completion of the human genome project, scientists have achieved another milestone: they have completed the genetic map blueprint of the chimpanzee. Due to the chimpanzee's close relationship to humans (in evolutionary terms), we now have the opportunity to better understand the evolutionary processes that have combined to create human beings. The scientific analysis has revealed that some 96% of human and chimp genomes are exactly the same. More important still are the insights provided by the differences between human and chimp genomes."
Abstract This six-page graduate paper examines the ethics of the HumanGenomeProject and the related issue of gene patenting. The author defines the ethical considerations, concludes that gene patenting is unethical, and defends that position through moral and scientific arguments.
Abstract This paper discusses the HumanGenomeProject and looks particularly at the role that computer technology has played through its existence. This paper also looks at the background with a discussion on the aspects of sequencing in more detail.
From the Paper "The ability of science to identify genes and DNA strands has given the modern world a dilemma. The technology is available to identify the culprits of crimes through their DNA and the police forces now keep DNA profiles of many individuals, additionally genetic testing has developed to a stage were single genes have been identified and the susceptibility to specific conditions can now be tested for. The dilemma that faces the regulators of this new science are the boundaries should be drawn on what is, and is not, allowed. The ethics of this are very complex, the issue of retaining DNA profiles has been seen as an infringement of liberty buy many political groups, whilst their use in the conviction of a mass murdered would be applauded. The issue becomes more complex when the role genetic testing can play when it comes to issues such as life insurance and testing individuals for non treatable illnesses. The ethics of then allowing employers to test employees becomes even more questionable, not only in their rights or abilities to do so, but in the way they may decide to use the information following the tests."
Abstract This paper presents the arguments for and against the use of Eugenics in a Canadian context, which was first used at the start of the 20th Century, to "improve" the population. The history of the use of this concept and practice is traced to modern day science and how it relates to the HumanGenomeProject.
Table of Contents
Abstract
Introduction
Perceived Need for Eugenics in Canada
Justification of Eugenics
Methods of Implementation
Sexual Sterilization Laws in Canada
Alberta Sexual Sterilization Act, 1928
Death of Eugenics in Canada
Eugenics in Canada Today
Future of Eugenics
Conclusion
References
From the Paper "Sir Francis Galton first coined the term "eugenics" in 1883 when he defined it as "the study of the agencies under social control that may improve or impair the racial qualities of future generations, either physically or mentally" (Galton, 1907.) Eugenics can be divided into two categories, Negative and Positive Eugenics. Negative Eugenics acts to eliminate undesirable traits from the gene pool, and to ultimately increase the number of desirable individuals in the population by decreasing the rate of propagation of those individuals deemed to be inferior. Positive Eugenics aims to decrease the number of individuals deemed inferior by encouraging propagation of individuals possessing desirable traits (Law Reform Commission of Canada (LRCC), 1979.)"
Abstract The paper looks at what forces play a role in human evolution. It examines, for example, migration, parasites, recombination and relates it to relevant examples, including the spread of an epidemic.
From the Paper "The human genome has been shaped by a number of evolutionary processes whose heterogeneity and interactions also account for the genetic diversity within the human population. Throughout the evolutionary history of our species, one of the most important determinants of genetic diversity has been the force of natural selection. Natural selection tends to eliminate phenotypic traits that decrease fitness (reproductive success). Since a phenotype is largely a reflection of a genotype and reproduction serves as the only means of transmission of genes, natural selection helps to shape evolution by decreasing the frequency of detrimental alleles (versions) of genes in population over time. Some genes, however, seem to be under little or no selection pressure and hence can have multiple alleles without a negative impact upon survival and reproduction. Different alleles, moreover, confer differential fitness depending on environmental factors. Thus, the presence of the sickle cell allele of the hemoglobin gene in a population is disadvantageous in the US, but confers a reproductive advantage to heterozygous individuals who reside in an area that has a high prevalency of malaria."
From the Paper "Genetics, Variation, and Anthropology
Introduction
For over a decade, researchers in the biological sciences have been collecting data on human genetics in the massive Human Genome Project and other smaller efforts. Scientists in other specialties have begun to examine this database in order to extend the genetic age to other disciplines. Anthropologists, in particular, are interested in human genetics because of what it can tell them about human variation. However, the sources of the data and the various collection methods are sometimes incompatible, and the sheer volume of data available can be overwhelming. Consequently, a new science called bioinformatics has been developed to deal with these questions. This paper assesses the need for an anthropological approach to the study of..."
