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High performance computing for the human genome project.

Human Genome Analysis and Image Processing are part of the 'Grand Challenges' in High Performance Computing. The traditional mainframe has become insufficient for these applications in Biocomputing. New scalable parallel processor systems enter the marketplace with superior price/performance. The evaluation process of such a system by an application-oriented benchmark test suite is described. The system is integrated in the client/server structure of the Deutsches Krebsforschungszentrum where 'rightsizing' will eliminate the mainframe completely in the near future.

Computer Systems↗

The human genome project.

The Human Genome Project in the United States is now well underway. Its programmatic direction was largely set by a National Research Council report issued in 1988. The broad framework supplied by this report has survived almost unchanged despite an upheaval in the technology of genome analysis. This upheaval has primarily affected physical and genetic mapping, the two dominant activities in the present phase of the project. Advances in mapping techniques have allowed good progress toward the specific goals of the project and are also providing strong corollary benefits throughout biomedical research. Actual DNA sequencing of the genomes of the human and model organisms is still at an early stage. There has been little progress in the intrinsic efficiency of DNA-sequence determination. However, refinements in experimental protocols, instrumentation, and project management have made it practical to acquire sequence data on an enlarged scale. It is also increasingly apparent that DNA-sequence data provide a potent means of relating knowledge gained from the study of model organisms to human biology. There is as yet little indication that the infusion of technology from outside biology into the Human Genome Project has been effectively stimulated. Opportunities in this area remain large, posing substantial technical and policy challenges.

Chromosome Mapping↗

Origins of the Human Genome Project.

The Human Genome Project has become a reality. Building on a debate that dates back to 1985, several genome projects are now in full stride around the world, and more are likely to form in the next several years. Italy began its genome program in 1987, and the United Kingdom and U.S.S.R. in 1988. The European communities mounted several genome projects on yeast, bacteria, Drosophila, and Arabidospis thaliana (a rapidly growing plant with a small genome) in 1988, and in 1990 commenced a new 2-year program on the human genome. In the United States, we have completed the first year of operation of the National Center for Human Genome Research at the National Institutes of Health (NIH), now the largest single funding source for genome research in the world. There have been dedicated budgets focused on genome-scale research at NIH, the U.S. Department of Energy, and the Howard Hughes Medical Institute for several years, and results are beginning to accumulate. There were three annual meetings on genome mapping and sequencing at Cold Spring Harbor, New York, in the spring of 1988, 1989, and 1990; the talks have shifted from a discussion about how to approach problems to presenting results from experiments already performed. We have finally begun to work rather than merely talk. The purpose of genome projects is to assemble data on the structure of DNA in human chromosomes and those of other organisms. A second goal is to develop new technologies to perform mapping and sequencing. There have been impressive technical advances in the past 5 years since the debate about the human genome project began. We are on the verge of beginning pilot projects to test several approaches to sequencing long stretches of DNA, using both automation and manual methods. Ordered sets of yeast artificial chromosome and cosmid clones have been assembled to span more than 2 million base pairs of several human chromosomes, and a region of 10 million base pairs has been assembled for Caenorhabditis elegans by a collaboration between Washington University and the Medical Research Council laboratory in Cambridge, U.K. This project is now turning to sequencing C. elegans DNA as a logical extension of this work. These are but the first fruits of the genome project. There is much more to come.

Europe↗

Update on the Human Genome Project.

The Human Genome Project is essentially on schedule in accomplishing its short-term goals. Extensive genetic maps and partial physical maps have been made of all the chromosomes, an achievement which has accelerated the rate at which genes are being cloned. Preliminary to the concerted sequencing efforts that will occupy the later years of the Project, extensive activity has been directed toward the development of conventional and novel sequencing methods. The impact that the Human Genome Project will have on society and the future of medicine is discussed.

Base Sequence↗

Orchestrating the Human Genome Project.

The Human Genome Project is under way. The Department of Energy and the National Institutes of Health are cooperating effectively to develop organizational structures and scientific priorities that should keep the project on schedule and within its budget.

Budgets↗

Human Genome Project.

The Human Genome Project is an international effort to clone and sequence the entire human genome. This audacious undertaking, estimated to cost 200 million dollars per year and require 15 years to complete, promises to be one of the most revolutionary and captivating scientific endeavors ever conceived by mankind. By knowing the sequence of the estimated 3 billion base pairs of the haploid human genome and its more than 30,000 genes, many questions will be answered. Moreover, our ability to intervene at the genetic level will be possible. This review outlines the scientific goals and methods of this project and discusses some of its ethical, legal, and social ramifications.

Base Sequence↗

Privacy and the Human Genome Project.

The Human Genome Project has raised many issues regarding the contributions of genetics to a variety of diseases and societal conditions. With genetic testing now easily conducted with lowered costs in nonmedical domains, a variety of privacy issues must be considered. Such testing will result in the loss of significant privacy rights for the individual. Society must now consider such issues as the ownership of genetic data, confidentiality rights to such information, limits placed on genetic screening, and legislation to control genetic testing and its applications. There is often a conflict between individual rights to privacy and the need for societal protection.

Confidentiality↗

Human genome diversity: what about the other human genome project?

Although the Human Genome Project has been successful, the Human Genome Diversity Project, proposed in 1991, has so far failed to thrive. One of the main values in studying the human genome, however, will come from examining its variations and their effects. To do that in a systematic way, an active Human Genome Diversity Project, or something very similar, will ultimately prove vital. Such an effort will confront difficult ethical and political issues; this article reviews those issues and tries to show how they might be overcome.

Ethics↗

Network-based informatics support of research collaborations in the Human Genome Project and the Human Brain Project.

Sophisticated network-based informatics support will increasingly be required for collaborating biomedical laboratories located in different geographic locations, both to accommodate the massive amount of data being generated in certain fields, and to allow different types of data produced at different laboratories to be analyzed in an integrated fashion. The paper describes the experience of the Yale Center for Medical Informatics in providing informatics support for collaborative projects in gene mapping (as part of the national Human Genome Project) and neuroscience (as part of the national Human Brain Project). The paper describes the informatics needs of the two projects and the solutions being developed, describes certain lessons learned, and discusses certain broader issues that arise.

Brain Mapping↗

Societal and medical consequences of the Human Genome Project. Inter-disciplinary approaches to human genetics.

The Human Genome Project is a US-based molecular biological project, the results of which are likely to be implemented on humans. The sociopolitical dimension of this is highly neglected. The aim of the conference was to fill this gap by drawing together scientists of natural and political sciences to discuss the consequences of the Human Genome Project across the disciplines.

Ethics, Medical↗

Implications for nursing of the Human Genome Project.

Information obtained from the Human Genome Project, initiated in 1990 and targeted for completion in 2005, will influence both health care and nursing practice. It will substantially revise our understanding of disease susceptibility and causation. Additional genetic tests will be developed and gene therapies explored. The project has implications for both nursing research and nursing practice. This article reviews the establishment of the Human Genome Project, reports on current progress of the project, and identifies some implications of the project for health care generally and nursing specifically.

Ethics, Nursing↗

New goals for the U.S. Human Genome Project: 1998-2003.

The Human Genome Project has successfully completed all the major goals in its current 5-year plan, covering the period 1993-98. A new plan, for 1998-2003, is presented, in which human DNA sequencing will be the major emphasis. An ambitious schedule has been set to complete the full sequence by the end of 2003, 2 years ahead of previous projections. In the course of completing the sequence, a "working draft" of the human sequence will be produced by the end of 2001. The plan also includes goals for sequencing technology development; for studying human genome sequence variation; for developing technology for functional genomics; for completing the sequence of Caenorhabditis elegans and Drosophila melanogaster and starting the mouse genome; for studying the ethical, legal, and social implications of genome research; for bioinformatics and computational studies; and for training of genome scientists.

Animals↗

The implications of the Human Genome Project for family practice.

The Human Genome Project is an international effort to map and sequence the human genome. The information it will generate has been referred to by some as the "new anatomy," and may play an important role in the future of medicine. However, as with any new technological advancement, the outcome of the Human Genome Project and the subsequent availability of new technology will raise a myriad of ethical, legal, and social concerns. The fear is that this technology will be applied in the clinical setting before the appropriate infrastructure is in place to deal with the issues it will raise. The family physician, far from being merely an interested observer in this process, will be responsible for the delivery of much of this technology as it becomes available. As an intermediary between the technology and the individual patient, the physician has a unique obligation to join in the thoughtful consideration and debate of these issues.

Abortion, Induced↗

Translating the genetic library: the goals, methods, and applications of the Human Genome Project.

The information produced by the Human Genome Project will have profound effects on the medical community, biotechnology companies, research scientists, and others. The ultimate goal of the project is to locate the approximately 100,000 genes that contain the instructions for creating a human being. Once these genes are found, they can be studied to increase understanding of their role in health and disease. Information about the location of a gene, its function, and its connection to disease will be stored in a variety of computer databases. Medical librarians can help assure that this information reaches the people who need it. To aid in this effort, this paper provides an introduction to the Human Genome Project: its goals, examples of methods used to achieve these goals, the types of information produced, and examples of how this information can be used in medicine and basic research. Because rapid research progress makes it difficult to predict the exact course of the project, this paper will focus on the first five years, 1990-1995.

Chromosome Mapping↗

Impact of the human genome project on medical practice.

BACKGROUND: The Human Genome Project is a coordinated effort to define the human genetic blueprint. The goals include construction of a variety of maps of the human genome, including the identification and localization of all genes. The discovery of genes responsible for human diseases has had a significant impact on the practice of medicine. METHODS: Methods for defining the human genome include cytogenetic, physical, and genetic mapping techniques. A variety of strategies have been used to identify human genes, especially those genes that are responsible for disease. Once a disease gene has been identified, this information can be used to develop new diagnostic and therapeutic procedures. RESULTS: A number of disease genes have already been identified, leading to improved diagnosis and novel approaches to therapy. A new type of mutation, trinucleotide repeat expansion, has been found to be responsible for at least seven diseases with an unusual inheritance pattern. CONCLUSIONS: Materials and technology generated by the Human Genome Project and related research have provided important tools for the diagnosis and treatment of patients afflicted with genetic diseases.

Base Sequence↗