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PubMed1992

Human genome project.

Genome n. [gene plus chromosome] the complete set of chromosomes containing all of the genes of an organism. For man this set of 46 per cell stretches to a 6 foot strand of DNA. Within this string of 3 billion nucleotide bases are 100,000 genes. Utilizing a 4 letter alphabet (Adenine, Guanine, Cytosine, Thymine), genes provide the blueprint for the amino acid sequence of structural protein (cell membrane, connective tissue, etc) or functional protein (hormones, enzymes, transmitters, etc). DNA replication guarantees exact gene copies and chromosome meiosis and crossing over guarantees varied gene combinations. This forms the basis for the similarity and the diversity of all of humankind: the similarity needed to perpetuate successful genes and the diversity needed for genes to respond to the weeding out process of evolution.

Ethics, Medical↗

PubMed2001

The human genome project: a historical perspective.

Efforts in genomics over the last decade have created a stream of opportunities for drug discovery. High-throughput DNA sequencing has forced a re-definition of the paradigm for identification and validation of targets for drug development. One purpose of this review is to delineate the different approaches to sequence data generation and to establish their various uses for the definition of gene function. There still remain crucial dilemmas for the pharmaceutical industry. The multitude of potential targets can each absorb enormous validation costs and the vast majority are likely to prove academically interesting but useless for drug development. An additional dimension arises from the importance of sequence variation between different individuals. These differences can determine response to therapy and must inform both the drug development process and healthcare delivery. This presents great challenges and opportunities for drug companies, their customers and society as a whole. I will review the technological aspects in some detail and give my view of the legal and social aspects. The field of bioinformatics is at the core of functional and pharmacogenomics and advances will depend on the continuing evolution of tools to interpret data. For the most part this evolution is reviewed in the context of specific application areas rather than as a discrete field, in recognition of its all-pervasive effects.

Animals↗

PubMed2000

[The Human Genome Project and the genetics of infertility].

Nine years after the beginning and five years before the expected end of the Human Genome Project, we will have access in several months to 90% of the human genome sequence. This data certainly opens promising vistas to the better understanding of gametogenesis. This will allow the different types of sterility to be studied through new approaches. The aim of the current review is to describe how the Human Genome Project has proceeded in the last ten years. We also discuss to what extent the knowledge of the human genome sequence is important in understanding the genetic basis of some diseases, such as human infertility. Finally, we review the different methodologies to use this information and their limits.

Ethics↗

PubMedDate not supplied

The human genome project: exploring its progress and successes and the ethical, legal, and social implications.

The human genome project (HGP) began in 1990 with a projected completion time of 15 years. In that time period, the project expects to complete the sequencing of the total human genome, develop genetic maps to assign genes to specific regions on chromosomes, to identify genes associated with disease, and to develop new technologies for furthering genetic research and clinical testing. The project also intends to investigate ethical, social, and legal issues as well as to provide education about genetics to professionals and to the public. The HGP has seen many achievements yet has much to discover before completion. This article attempts to review the HGP and discuss its significance and various ethical issues in genetics.

Cloning, Organism↗

PubMed2002

Impact of the Human Genome Project on the clinical management of sporadic cancers.

The publication of the human genome sequence has provided a new basis for cancer research. Molecular analysis of single cancer genes in isolation may lead to an underestimation of the impact of networks of intertwined genes in molecular cancer pathology. However, new technologies such as DNA microarrays or microchips will enable the detection of global gene-expression profiles--already described for lymphomas, acute leukaemias, and various solid tumours--and may help to overcome some of the limitations of gene function analysis. In addition, DNA microchip data banks may uncover new genes that are relevant to the molecular pathology of specific cancers and trigger detailed analysis of their function. Clinically, microchips will enable us to identify new molecular cancer markers or marker profiles of prognostic and predictive value, since global gene-expression patterns can highlight molecular tumour characteristics that relate to clinically distinct entities within heterogeneous cancers, such as non-Hodgkin lymphomas or breast cancer. However, before its promise can be realised, all molecular information stemming from the Human Genome Project will need to be tested for its clinical relevance in appropriate cancer trials; this presents a formidable but important challenge.

Human Genome Project↗

PubMed1998

The Human Genome Project: from mapping to sequencing.

Until recently, the "human genome" programs were mainly directed towards the development of maps to identify disease genes. The genetic map comprises about 8000 highly informative second generation markers of the microsatellite type. The density of markers is now sufficient to localize a gene for a monogenic disease with a precision of 1 to 2 million base pairs easily, and to define intervals which contain susceptibility genes for multifactorial disorders. A third generation map based on single nucleotide polymorphisms that can be genotyped using DNA chip technology is in progress. The physical map, based on sets of overlapping yeast artificial chromosomes ordered using sequence-tagged sites, covers over 90% of the genome. However, this physical map cannot serve as a support for sequencing because of the numerous rearrangements that occur in yeast artificial chromosomes. An international network of laboratories has mapped a set of more than 30,000 expressed sequences from cDNAs using whole genome radiation hybrids that enable integration of genes within existing maps. The human genome program is now progressively shifting to massive sequencing, although sequence ready maps are not available for the major part of the human genome. Similarly, our capacity to interpret the available genomic sequence remains limited.

Genetic Linkage↗

PubMed2002

Bench-to-bedside review: fulfilling promises of the Human Genome Project.

Since most common diseases have been shown to be influenced by inherited variations in our genes, completion of the Human Genome Project and mapping of the human genome single-nucleotide polymorphisms will have a tremendous impact on our approach to medicine. New developments in genotyping techniques and bioinformatics, enabling detection of single-nucleotide polymorphisms, already provide physicians and scientists with tools that change our understanding of human biology. In the near future, studies will relate genetic polymorphisms to features of critical illnesses, increased susceptibility to common diseases, and altered response to therapy. Novel insights into the contribution of genetic factors to critical illnesses and advances in pharmacogenomics will be used to select the most effective therapeutic agent and the optimal dosage required to elicit the expected drug response for a given individual. Implementation of genetic criteria for patient selection and individual assessment of the risks and benefits of treatment emerges as a major challenge to the pharmaceutical industry.

Clinical Trials as Topic↗

PubMed1993

Ethics and the Human Genome Project.

This article provides an overview of ethical issues in genetic testing and screening as they are currently considered in relationship to the Human Genome Project. Previous landmark reports and policy recommendations on genetic testing and screening are briefly described. The goals and research interests of the joint National Institutes of Health/Department of Energy Ethical, Legal, and Social Working Group of the Human Genome Project are outlined. To provide an example of one method by which ethical issues in genetics may be addressed, the ethical framework and practical aspects of a clinical ethics research project at the University of Washington, Seattle, are described. Finally, future directions for the study of ethical and social issues related to genetic testing and screening programs are suggested.

Advisory Committees↗

PubMed1996