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Genomics and the Other Omics: The Comprehensive Essentials | Stanford Online

Description Genetics and genomics are undergoing an unparalleled revolution. Candidates were recruited from a diverse population. The volunteers provided blood samples after being extensively counseled and then giving their informed consent. About 5 to 10 times as many volunteers donated blood as were eventually used, so that not even the volunteers would know whether their sample was used. All labels were removed before the actual samples were chosen.

The main goals of the Human Genome Project were first articulated in by a special committee of the U. National Academy of Sciences, and later adopted through a detailed series of five-year plans jointly written by the National Institutes of Health and the Department of Energy. The principal goals laid out by the National Academy of Sciences were achieved, including the essential completion of a high-quality version of the human sequence.

Other goals included the creation of physical and genetic maps of the human genome, which were accomplished in the mids, as well as the mapping and sequencing of a set of five model organisms, including the mouse. All of these goals were achieved within the time frame and budget first estimated by the NAS committee. Notably, quite a number of additional goals not considered possible in have been added along the way and successfully achieved.


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Examples include advanced drafts of the sequences of the mouse and rat genomes, as well as a catalog of variable bases in the human genome. On June 26, , the International Human Genome Sequencing Consortium announced the production of a rough draft of the human genome sequence.

In April, , the International Human Genome Sequencing Consortium is announcing an essentially finished version of the human genome sequence. This version, which is available to the public, provides nearly all the information needed to do research using the whole genome. The difference between the draft and finished versions is defined by coverage, the number of gaps and the error rate. The draft sequence covered 90 percent of the genome at an error rate of one in 1, base pairs, but there were more than , gaps and only 28 percent of the genome had reached the finished standard.

In the April version, there are less than gaps and 99 percent of the genome is finished with an accuracy rate of less than one error every 10, base pairs. The differences between the two versions are significant for scientists using the sequence to conduct research.

Introduction

Who owns the human genome? Every part of the genome sequenced by the Human Genome Project was made public immediately, and new information about the genome is posted almost every day in freely accessible databases or published in scientific journals which may or may not be freely available to the public. The Supreme Court ruled in that naturally occurring human genes are not an invention and therefore cannot be patented.


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However, private companies can apply for patents on edited or synthetic genes, which have been altered significantly from their natural versions to count as a new, patentable, product. The Human Genome Project could not have been completed s quickly and as effectively without the strong participation of international institutions. However, almost all of the actual sequencing of the genome was conducted at numerous universities and research centers throughout the United States, the United Kingdom, France, Germany, Japan and China.

In , Congress established funding for the Human Genome Project and set a target completion date of Additionally, the project was completed more than two years ahead of schedule. It is also important to consider that the Human Genome Project will likely pay for itself many times over on an economic basis - if one considers that genome-based research will play an important role in seeding biotechnology and drug development industries, not to mention improvements in human health.

Table of Contents

Since the beginning of the Human Genome Project, it has been clear that expanding our knowledge of the genome would have a profound impact on individuals and society. The leaders of the Human Genome Project recognized that it would be important to address a wide range of ethical and social issues related to the acquisition and use of genomic information, in order to balance the potential risks and benefits of incorporating this new knowledge into research and clinical care.

The ELSI program at NHGRI, which is unprecedented in biomedical science in terms of scope and level of priority, provides an effective basis from which to assess the implications of genome research. Among these are major changes to the way investigators and institutional review boards handle the consent process for genomics studies.

The ELSI program has been effective in promoting dialogue about the implications of genomics, and shaping the culture around the approach to genomics in research, medical, and community settings. Having the essentially complete sequence of the human genome is similar to having all the pages of a manual needed to make the human body.

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In this respect, genome-based research will eventually enable medical science to develop highly effective diagnostic tools, to better understand the health needs of people based on their individual genetic make-ups, and to design new and highly effective treatments for disease. Individualized analysis based on each person's genome will lead to a very powerful form of preventive medicine. We'll be able to learn about risks of future illness based on DNA analysis. Physicians, nurses, genetic counselors and other health-care professionals will be able to work with individuals to focus efforts on the things that are most likely to maintain health for a particular individual.

That might mean diet or lifestyle changes, or it might mean medical surveillance. But there will be a personalized aspect to what we do to keep ourselves healthy. Then, through our understanding at the molecular level of how things like diabetes or heart disease or schizophrenia come about, we should see a whole new generation of interventions, many of which will be drugs that are much more effective and precise than those available today.

Biological research has traditionally been a very individualistic enterprise, with researchers pursuing medical investigations more or less independently.