The Human Genome Project Research Paper
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The Human Genome Project (HGP) was a scientific research project whose goal was to map the gene sequence of human beings. HGP was initiated and sponsored by the U.S government, but involved institutions and scientists from different regions of the world such as Japan, China, Germany, the U.K and France, making it the largest collaborative scientific research project of its kind. The project mapped about three billion base pairs (estimated to nbe between fifty and a hundred thousand genes). It started in 1990 after four years of development and planning and ended thirteen years later in 2003. Interestingly, the mega-project was completed ahead of schedule. The first draft of the results was released in 2001, with only three complete chromosomes: 20, 21 and 22. The project is widely seen as one of the most important scientific achievement in history, often compared to the Apollo space mission. HGP bears significant philosophical implications: we now have the code to make a complete human being. It has practical uses in the medical field and is currently the crowning piece of the science of genetics: it has enabled the genetic roots of any condition or disease to be potentially identified and corrected. Despite the promise of medical application, HGP also generated legal, ethical and social controversies and fears. Most of the fears were based on elements of eugenics, reproductive choices and freedom, appreciation of racial diversity, racism, privacy and “genetic discrimination”.
Genetics and genomics exemplify the insatiable curiosity of mankind and the hopes and fears that science offers. The promise of longer and healthier lives, early detection and treatment of congenital diseases, food security and enhancement of human abilities and capacity beckon to us to pursue genetics. On the other hand, the moral, ethical and social implications of pursuing genetics are controversial and not sufficiently studied. Fear of the unknown causes some to want to proceed with more caution, while some fear the technology and knowledge acquired may be used for sinister purposes as the history of our race has shown us capable of. Before the project was launched and in the early years after it was launched, it was often debated whether the huge costs of the project would outweigh the benefits.
The data, technology and knowledge acquired from the Human Genome Project has applications in various fields such as molecular medicine, microbial genomics, DNA forensics, evolution, anthropology, human migration, bioarchiology, agriculture, risk assessment and many more. Bearing these applications in mind, the Human Genome Project was worth the cost. Much more may be reaped from the HGP as the data is analyzed and better understood and the advances are made in genetics and genomics.
The Human Genome Project is the culmination of years of research and development in the field of genetics and biology. It is an endeavour that started in 1865 when Gregor Mendel, father of modern genetics, presented his findings on experimentation of plant hybridization. Mendel’s work lay the foundation for a new scientific field by showing that genes were responsible for the passing down of characteristics from parents to offspring, and that this happened in a predictable way. In 1869, Friedrich Miescher isolated a molecule that comprised of hydrogen, oxygen, and a unique ratio of phosphorus and nitrogen from the nuclei of human white blood cells. He called it “nuclein”, but he and other scientists at the time did not recognize the importance of the new molecule (DNA). In 1952, Rosalind Frankin used X-ray crystallography to take a picture of DNA. Watson and Crick introduced their 3-D model of the DNA structure in the same year, showing the now well-known helical structure of DNA. In 1961, Marshall Nirenberg shared the Nobel Prize in Physiology or medicine for his contribution in understanding protein synthesis in DNA. Frederick Sanger also shared a Nobel Prize, this time in chemistry, for the “Sanger technique”, a faster method of DNA-sequencing. Huntington’s disease was the first genetic illness to be mapped, in 1983. In 1989, the cystic fibrosis transmembrane conductance regulator, the gene that causes Cystic Fibrosis, was identified. The Human Genome Initiative was announced in 1986.
Human genes are collectively known as the human genome. The National Institute of health (NIH), the U.S Department of Energy (DOE), and other agencies and Institutions held a series of meetings about studying the Human genome. The proposal and recommendation to map and study the human genome was put forth by the National Research Council. Two principles guided the HGP from the start: that information and data gathered from the project would be made freely available and that the project would be open to contribution from any country. Several projects contributed to these principles. Between 1978 and 1982, the mapping of the genome of several bacteria and viruses showed the value and feasibility of the idea. Bolstein and his colleagues started a project to create a genetic map based on the inheritance patterns of diseases caused by genes and tracking down genes whose function was not known. A programme to create maps of clones of yeast and worm genomes by Olson and Sulston was also a notable contribution at the time.
It is impossible to know precisely the possibilities of research in genetics. Just as there were people voicing fears of the HGP, there were others who supported it, but cautioned those involved to proceed with caution and respect for the beauty and uniqueness of human life. They felt that advancements in the biomedical sciences should not necessarily undermine our religious beliefs and virtues. Rather than decrease the value or beauty of human life, the HGP and other such undertakings increase our appreciation of what is human and of nature.
ELSI (Ethical Legal Social Implications) was an integral part of the HGP that was tasked with studying the effects of the HGP on individuals, families and communities. ELSI funds and supports efforts to understand the applications of the HGP. ELSI supports and funds policy conferences on issues affected or associated with the HGP. ELSI explores issues such as the sharing of individual genomic information, how health care is affected or influenced by the increasing body of knowledge in genetics, practices and policy of genomic information and technology, and the legal and regulatory issues associated with genomic information and research.
Genetic research, exciting as it may be, draws considerable controversy and fears for equality and the rights of the individual. Questions are raised as to how far should be considered as too far and where the line between what is ethical and what is not is to be drawn. Human cloning is especially controversial as it elicits the age-old ‘playing God’ argument. Commercialization and patenting of genetic material, especially where it may be economically unfair to some countries (especially the third world), is also a challenging issue. Existing socio-economic policy and institutions must adapt rapidly to keep up with technological progress, especially in the biomedical sciences. For instance, if the technology to explore the genetic makeup of every embryo became readily available, would anyone get satisfied with any one embryo, given that no one is perfect? Would people ever give birth? Genetics and genomics affect issues as fundamental as human identity and individuality.
For much of the history of science, people have used or misused scientific data to propagate inaccuracies and lies about the superiority or inferiority of one race or ethnic group over another. Cranial capacities, IQ, skull size and genetics have all been fashionable at one point in explaining the superiority of one race over another. The fears accompanying the Human Genome Project, therefore, had a valid basis. Questions regarding who would record genetic data and who would have access to genetic data were raised. There were fears of employers using genetics as a tool to discriminate against potential job seekers. There were also fears that health insurance companies would use the information to discriminate against people. The Human Genome Project discovered that the human genome between any two individuals has a 99.9% similarity. In the United States, the Health Insurance Portability and Accountability Act (HIPAA) was passed to protect individuals against the access of personal health information by anyone not actively involved in their treatment.
The data and knowledge acquired in the HGP was extensive and is still in the early stages of integration. A number of companies now offer gene mapping services that show an individual their likelihood to develop known genetically-base diseases and the likelihood of their children to develop complications or life-threatening illnesses. It is expected that some cancers and other diseases will benefit greatly from the HGP. Scientists in the biological fields are the biggest beneficiaries of the HGP. Readily available genetic information and data has makes it potentially helpful in a wide array of biological research problems and experiments. Availability of the HGP database online also increases coordination among scientists in different parts of the world working on different projects. One of the major promises of genetic research is that a better understanding of the genetic basis of disease will enable us to develop medication and therapy that is customized to suit and individual’s genetic make-up. For example, pharmacogenomic tests have been used to discover the suitability of breast cancer patients to Herceptin, AIDS patients to Abacavir, and appropriate dosage of Warfarin for an individual. Genetic discovery might also give insight into the molecular nature of a disorder.
Comparative genetics, the study of the similarities and differences between the genetic blueprint of different species and variants of life, is a major contribution to the study of evolution. The Human Genome Project also contributed to the field of genomics and facilitated the mapping of the genes of other organisms. The “Bermuda Principles”, which were drafted by leaders of the Human Genome Project, encouraged rapid progress and productivity in the field of genomics by developing a model when data and research findings were released as soon as possible. The Bermuda Principles have also transformed the standards of other fields. The Human Genome Project also spawned multiple genome projects in its wake in the U.S, the U.K, Italy and the U.S.S.R .
According to the NIH, the HGP has already resulted in the discovery of more than 1800 disease-associated genes. The HGP made finding new disease-associated genes faster and more efficient than before. The HGP has generated a wealth of knowledge that is now used by individuals, health care and physicians to diagnose and treat medical conditions. The technology and techniques used in the HGP are being developed and used today in continuing research. The HGP also led to the development of inexpensive technology to perform gene, sequencing which used today in many fields.
Perhaps because the hopes were unreasonable or unfounded, the Human Genome Project has not necessarily fulfilled the hopes of a faster way of discovering treatment for diseases. A lot more than just the knowledge of the base pairs in our genome is required to cure illnesses. The existing gap is the relationship between genes and the protein they encode. Defective proteins directly cause diseases, rather than the genes the encode them. The task of establishing the relationship between genes and proteins is complex and is what current research focuses on. The contribution of genetics to the so-called complex disorders, such as diabetes, common cancer psychiatric disorders, autoimmune disorder and heart disease, has been minimal. Complex disorders are influenced largely by lifestyle and environmental factors and partly by genetics. These disorders are not highly heritable, making genetics an unsuitable tool to study them and attempt to develop treatment or cure. Although the Human Genome Project has already contributed to the saving of a lot of lives and make others better, the failure of the project to bring about a revolution in the medical industry, or at least offer more tangible results that can be witnessed by more people every day, has led to disillusionment. Some feel that people should stop placing so much hope on the HGP while there are preventive strategies and treatment for diseases like diabetes.
In conclusion, the Human Genome Project was a milestone in the advancement of science, and has many practical applications today. Despite fears of the misuse of the technology gained from mapping the human genome, none of the fears have presented a major challenge, and indeed most of these fears have not materialized. The fears that accompanied the Human Genome Project mostly fantastic in nature, as the Human Genome Project has not led to the rapid progress in biomedical sciences it was hoped it would, although it has contributed invaluably. Most of the fears that accompanied the HGP have not materialized, but the HGP gave an example of scientific quest outpacing policy. However, the legacy of the Human Genome Project is still in the making, with the technology still in its infancy. Therefore, the fears that were voiced during the initiating and progress of the Human Genome Project should still be borne in mind. The HGP could be used as a case study to develop guidelines for further biomedical research, practice and technology development. The HGP gave hope to people with chronic diseases and physical deformities, but some of that hope has led to disillusionment and frustration. It was inevitable that the HGP would elicit such opinions and emotions as it is science that was not very well understood. Much of science has faced many of the legal, social and ethical issues that plague genetics and genomics, such as nuclear physics in the 20th Century and Artificial Intelligence in the 21st Century (to a less extent). Therefore, these challenges should not inhibit science but should instead guide and steer its advancement.
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