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PubMed2000

The Human Genome Project--an overview.

The human genome sequence will underpin human biology and medicine in the next century, providing a single, essential reference to all genetic information. The international program to determine the complete DNA sequence (3,000 million bases) is well underway. As of January 2000, 50% of the sequence is available in the public domain. A comprehensive working draft is expected this year, and the entire sequence is projected to be finished in 2003. DNA sequencing is carried out on mapped, overlapping bacterial clones of 150-200 kb. The working draft comprises assembled unfinished sequence and is released immediately in the public domain. The draft sequence of each clone is then completed, by closing any remaining gaps and resolving any ambiguities, before the entire sequence is checked, annotated, and submitted to the public databases. The sequence of each clone is finished to an accuracy of >99.99%. The availability of a reference sequence of the genome provides the basis for studying the nature of sequence variation, particularly single nucleotide polymorphisms (SNPs), in human populations. SNP typing is a powerful tool for genetic analysis, and will enable us to uncover the association of loci at specific sites in the genome with many disease traits. SNPs occur at a frequency of approximately 1 SNP/kb throughout the genome when the sequence of any two individuals is compared. Programs to detect and map SNPs in the human genome are underway with the aim of establishing a SNP map of the genome during the next two years. The human genome sequence will provide a complete description of all the genes. Annotation of the sequence with the gene structures is achieved by a combination of computational analysis (predictive and homology-based) and experimental confirmation by cDNA sequencing. Detecting homologies between newly defined gene products and proteins of known function helps to postulate biochemical functions for them, which can then be tested. Establishing the association of specific genes with disease phenotypes by mutation screening, particularly for monogenic disorders, provides further assistance in defining the functions of some gene products, as well as helping to establish the cause of the disease. As our knowledge of gene sequences and sequence variation in populations increases, we will pinpoint more and more of the genes and proteins that are important in common, complex diseases. A more detailed understanding of the function of the human genome will be achieved as we identify sequences that control gene expression. Given the availability of gene sequences, the expression status of genes in particular tissues can be monitored in parallel. By comparing corresponding genomic sequences in different species (for example: man, mouse, chicken, and zebrafish), regions that have been highly conserved during evolution can be identified, many of which reflect conserved functions such as gene regulation. These approaches promise to greatly accelerate our interpretation of the human genome sequence.

Human Genome Project↗
PubMed1999

Comparative genomics: the key to understanding the Human Genome Project.

The sequencing of the human genome is well underway. Technology has advanced, such that the total genomic sequence is possible, along with an extensive catalogue of genes via comprehensive cDNA libraries. With the recent completion of the Saccharomyces cerevisiae sequencing project and the imminent completion of that of Caenorhabditis elegans, the most frequently asked question is how much can sequence data alone tell us? The answer is that that a DNA sequence taken in isolation from a single organism reveals very little. The vast majority of DNA in most organisms is noncoding. Protein coding sequences or genes cannot function as isolated units without interaction with noncoding DNA and neighboring genes. This genomic environment is specific to each organism. In order to understand this we need to look at similar genes in different organisms, to determine how function and position has changed over the course of evolution. By understanding evolutionary processes we can gain a greater insight into what makes a gene and the wider processes of genetics and inheritance. Comparative genomics (with model organisms), once the poor relation of the human genome project, is starting to provide the key to unlock the DNA code.

Animals↗
PubMed1993

Primary care and the human genome project. Into the breach.

The Human Genome Project potentially may change how medical care is conceptualized and delivered. Screening for gene mutations in the future will likely be more precise, allowing screening for a much wider scope of diseases. The demand for this testing will thereby create stresses on the health care system that may require the involvement of primary care providers. Such involvement will precipitate training needs for thess providers in genetics and genetic counseling. Further, the importance of evaluating public values toward genetic testing is critical in appreciating patient response to future screening and in developing public policy.

Ethics, Medical↗
PubMed1994

The role of the human genome project in disease prevention.

The Human Genome Project has made it easier to genetically map and clone mutant genes which predispose to a great many human diseases. In addition to diseases inherited in a simple Mendelian fashion, there are many degenerative and infectious diseases, and sensitivities to environmental insults, in which the genetic make-up of an individual contributes to the course of the disease. Once a gene or genes associated with disease has been cloned, it is possible to design DNA-based diagnostics to detect altered forms of the gene which predispose to disease. The ability to predict the development of disease makes possible early intervention to limit the severity of a disease or to use gene therapy to cure inherited disorders.

Disease Susceptibility↗
PubMedDate not supplied

Milestones in the Human Genome Project: genesis to postgenome.

The Human Genome Project (HGP) will change medicine and medical research irrevocably. The obvious gains in genetic knowledge from the HGP, together with the advances which will flow into bioinformatics, biotechnology and the potential for novel therapeutic agents, will ensure that the financial investment in the HGP is repaid many times over. The HGP's costs in terms of ethical and social issues remain to be determined, but it is to be hoped that these will not detract from the scientific and medical achievements. How did such an endeavour start, and what path did it follow?

History, 20th Century↗
PubMed2004

Genomics and the Human Genome Project: implications for psychiatry.

In the past decade the Human Genome Project has made extraordinary strides in understanding of fundamental human genetics. The complete human genetic sequence has been determined, and the chromosomal location of almost all human genes identified. Presently, a large international consortium, the HapMap Project, is working to identify a large portion of genetic variation in different human populations and the structure and relationship of these variants to each other. The Human Genome Project has approached human genetics on a scale not previously seen in biology. This has been made possible by dramatic advances in high throughput technology and bio-informatics. Tools such as gene chips and micro-arrays have spawned an entirely new strategy to examine the function and expression of genes in a massively parallel fashion. Together these tools have dramatically advanced our knowledge about the human genome. They promise powerful new approaches to complex genetic traits such as psychiatric illness. The goals and progress of the Human Genome Project and the technology involved are reviewed. The implications of this science for psychiatric genetics are discussed.

Computational Biology↗
PubMed1998

[Chinese Human Genome Project--opportunity and challenge].

The Chinese Human Genome Project(HGP) started in 1993 and has since made substantial progress in 3 major aspects: the genome resource conservation and genetic polymorphism studies of multiple Chinese nationalities; the development of an advanced technological system for genome research; the cloning of some desease-related genes and a large number of expressed sequence tags(ESTs). At the same time a qualified research team has been formed and some centers for genome studies have been founded in the country. The major tasks in the next phase of the project are: (1) Further expanding the genetic material conservation scope including collection of more DNA samples and establishment of more immortalized cell lines; (2) Developing morbid genomics which includes epidemiological survey and registration, collection, maintenance and banking of the data and genetic material resource; making significant progress in mapping, cloning, mutation screening, and large-scale sequencing of the genes related to tumors, inheritable diseases and particularly multigenic diseases in the hope that a number of genes for important diseases will be obtained; (3) Initiation of the functional genomics which includes studies on bioinformatics, expression spectrum of transcription and translation of the genome in physiological and pathological processes; (4) Enhancing the studies on the ethical, legal and social issues related to human genome sciences.

China↗
PubMed1994

The Human Genome Project and eugenic concerns.

The U.S. Human Genome project is the largest scientific project funded by the federal government since the Apollo Moon Project. The overall effect from this project should be of great benefit to humankind because it will provide a better understanding both of single gene defects and multifactorial or familial diseases such as diabetes, arteriosclerosis, and cancer. At first this will lead to more exact ways of screening and diagnosing genetic disease, and later it will lead, in many if not most instances, to specific genetic cures. However, in the past, in both the U.S. and German eugenic movements genetic information has been misused. Hopefully, by remembering and understanding the past injustices and inhumanity of negative eugenics, further misuse of scientific information can be avoided.

Ethical Theory↗
PubMed2000

[The human genome project in the year 2000].

The human genome project was officially launched in 1990. This program started with a mapping phase which led to the development of a genetic map, a physical map based on large DNA fragments and more recently, a map of genes. Since 1996, the programme has progressively shifted to massive sequencing. A spectacular acceleration has occurred during the last 12 months and about 90% of the sequence is at present available in a draft format. This will be soon followed by a more complete version and by the progressive completion of each of the 24 chromosomes, a few of which being already in a "finished" state. It is to be hoped that the genome sequence, which can be used to efficiently identify genes involved in Mendelian phenotypes and which will lead to a better understanding of the evolution process, will also allow us to address other questions, such as those involving multifactorial inheritance.

Human Genome Project↗
PubMed1994

Relevance of the Human Genome Project to inherited metabolic disease.

The Human Genome Project is an international effort to identify the complete structure of the human genome. HUGO, the Human Genome Organization, facilitates international cooperation and exchange of information while the Genome Data Base will act as the on-line information retrieval and storage system for the huge amount of information being accumulated. The clinical register MIM (Mendelian Inheritance in Man) established by Victor McKusick is now an on-line resource that will allow biochemists working with inborn errors of metabolism to access the rapidly expanding body of knowledge. Biochemical and molecular genetics are complementary and should draw together to find solutions to the academic and clinical problems posed by inborn errors of metabolism.

Genetic Diseases, Inborn↗
PubMed1993

The Human Genome Project and the future of medicine.

The Human Genome Project is an international research effort the goal of which is to analyze the structure of human DNA and to determine the location of the estimated 100,000 human genes. Another component of the program is to analyze the DNA of a set of nonhuman model organisms to provide comparative information that is essential for understanding how the human genome functions. The project began formally in 1990. In this report, we summarize the rapid progress that has already been made; the impact that the resources already developed by the Human Genome Project have had on the ability of investigators to identify and isolate human genes, particularly those associated with disease; and the promise that the project offers for profoundly altering our approach to medical care, from one of treatment of advanced disease to prevention based on the identification of individual risk.

Base Sequence↗
PubMed1993

The Human Genome Project: implications for the practicing obstetrician.

The Human Genome Project is an international effort to discern the complete genetic makeup of human beings. The isolation and characterization of genes will offer tremendous opportunities for disease detection, diagnosis, screening, prevention, and counseling. Advances in genetic research are occurring simultaneously with the development of new techniques for prenatal genetic testing. Use of gene therapy in humans likely will lag behind our ability to detect genetic disorders. Consequently, obstetricians will be forced to face some difficult medical, ethical, and social challenges. The possibility of a national cystic fibrosis screening program is an example of the complex problems we will face as new genes are described. The obstetric community needs to participate actively in the debate surrounding the ethical and legal implications of the Human Genome Project. We need to establish clinical standards and use our professional organization to act as a resource for clinicians, the public, and legislatures. Because of the increased requirement for genetic counseling, we recommend an expansion of genetics training for residents and clinicians and the development of computer-based interactive video programs for genetic counseling.

Congenital Abnormalities↗
PubMed2004

The Human Genome Project: the role of analytical chemists.

The Human Genome Project (HGP) is the most ambitious and important effort in the history of biology. It has provided a complete genetic blueprint for human life, and will provide important insights into human health and development. HGP involves a huge amount of data that is stored on computers all over the world. More than just vast amounts of DNA sequences, the project is about developing sets of integrated maps that involve genetic, physical, and sequence data. The data can be sorted, annotated and organized in many different ways using different types of database software, different analysis algorithms and different forms of interfaces. The genomic sequences of the human and the substantial portions of the mouse genome are expected to be finished by 2005. Analytical chemists took the opportunity, addressing the problem of achieving a high throughput with good sensitivity. This paper discusses how analytical chemists saved the Human Genome Project or at least gave it a helping hand.

Chemistry Techniques, Analytical↗
PubMed1997

A new dimension for the human genome project: towards comprehensive expression maps.

The current Human Genome Project is largely devoted to structural characterisation of our genome. We now need international co-ordination of a second phase of genome analysis, the systematic construction of expression maps using both basic and high-resolution expression assays. Databases recording different types of expression pattern for a variety of human cell types need to be established and co-ordinated. There is a compelling need for a database of gene expression in early human development, but the scarcity of human material for study requires optimisation of research strategies and co-ordination of expression studies in early human and mouse development.

Animals↗
PubMed1993

cDNA analyses in the human genome project.

The ultimate goal of the human genome project is to decode all the genetic information carried in the genome. Towards this goal, the physical structure of the genome, as well as the functional aspects of the genome, must be understood. We initiated a cDNA project to collect the 'expression profiles' of all human genes, a database with which to describe which genes are expressed, and to what extent, in any given human cell at a particular time. Single-cycle sequencing of randomly selected members from a 3'-directed cDNA library is most appropriate for this purpose: the sequence data serve as a 'gene signature' to identify the expressing gene, and the frequency of appearance of the gene signature reflects the activity of the gene. The compiled data, which usually cover some 1000 sequencing results per sample, are referred to as an 'expression profile.' We applied this analysis to HepG2 (a cell line derived from a hepatocellular carcinoma), liver cells and lung cells. The expression profiles shed some light upon the unique features of gene expression in the cell or tissue tested. A comparison of the expression profiles among different cells has allowed active genes to be classified as housekeepers or those with cell-specific functions. A significant fraction of the abundantly expressed genes include those that are unique to the cell. In addition, the resulting collection of thousands of gene signatures is a useful source of probes for mapping and for isolating full-size cDNAs.

Animals↗
PubMed2001

The Human Genome Project: an update.

The mapping, sequencing, and analysis of the human genome that has occurred during the last decade through the Human Genome Project are providing fundamental advances for basic science and medicine. Genomic information is providing insights into causes of, susceptibility to, and protection from cancer and a host of other diseases. Already, information generated by the Human Genome Project has been incorporated into the care of cancer patients. Perhaps more so than other types of medical information, genetic knowledge can have profound implications for individuals, families, and society. As a result, nursing professionals in clinical and academic settings are being called upon to identify and deliberate medical, social, ethical, and legal issues stemming from Human Genome Project advancements. The purpose of this article is to review the goals and implications of the Human Genome Project to further prepare cancer nurses to actively participate in the deliberations, research, and clinical activities evolving from the Human Genome Project.

Genome, Human↗
PubMed1998

The Human Genome Project after a decade: policy issues.

The Human Genome Project began a decade ago, its early momentum fueled by two reports. A report from the National Research Council (NRC) in February 1998 endorsed the project and provided the basis for the first joint plan by the National Institutes of Health (NIH) and the Department of Energy (DOE). A report from the Office of Technology Assessment (OTA) in April 1988, provided Congress with a means to assess the roles of NIH and DOE. Both reports highlighted the importance of genomics and emphasized the need for a concerted research program. The committees did not predict the large investment of private funds or the extensive patenting of sequences, and they underestimated the rate of progress. Overall, though, the consensus-building provided by the committees helped to set the blueprint for one of the great success stories in modern biology.

Advisory Committees↗