a vision for the future of genomics research

J. Mol. The study of inter-species sequence comparisons is important for identifying functional elements in the genome (see Grand Challenge I-1). | PubMed | ChemPort |, Maxam, A. M. & Gilbert, W. A new method for sequencing DNA. Now, with the effective completion of these goals, we offer a broader and still more ambitious vision, appropriate for the true dawning of the genomic era. Major challenges inherent in programmes to discover genes are the experimental identification and validation of alternate splice forms and messenger RNAs expressed in a highly restricted fashion. Such leaps would have profound implications, just as the dreams of the mid-1980s about the complete sequence of the human genome have been realized in the accomplishments now being celebrated. In short, genomics has become a central and cohesive discipline of biomedical research. The first phase will address the application and improvement of existing technologies for the large-scale identification of coding sequences, transcription units and other functional elements for which technology is currently available. Here is the brief history and future of genomic healthcare: For regular updates and news, sign up to our e-newsletter Sign up, Genomics England is the trading name of Genomics England Limited, a company registered in England and Wales (registered number 08493132). We also thank Aravinda Chakravarti, Ellen Wright Clayton, Raynard Kington, Eric Lander, Richard Lifton and Sharon Terry for serving as working-group chairs at the meeting in November 2002 that refined this document. Yet even in those instances, the word 'partnership' appears numerous times intentionally. Finally, we thank the hundreds of individuals who participated as workshop planners and/or participants during this 18-month process. The project's new research strategies and experimental technologies have generated a steady stream of ever-larger and more complex genomic data sets that have poured into public databases and have transformed the study of virtually all life processes. Sorted by: Results 1 - 10 of 89. Nature 420, 520-562 (2002). National Research Council. Proc. Like Shakespeare, we are inclined to say, "what's past is prologue" (The Tempest, Act II, Scene 1). Generating molecular probes for exploring the basic biology of health and disease in academic laboratories would not supplant the major role of biopharmaceutical companies in drug development, but could contribute to the start of the drug development pipeline. From past experience, it would be surprising (and rather disappointing) if biological, medical and social contexts did not change in unpredictable ways. Sci. A second data set ready for production-level effort is the human haplotype map (HapMap). The genomic variation seen in humans represents only a small glimpse through the larger window of evolution, where hundreds of millions of years of trial-and-error efforts have created today's biosphere of animal, plant and microbial species. Research should explore how different individuals, cultures and religious traditions view the ethical boundaries for the uses of genomics - for instance, which sets of values determine attitudes towards the appropriateness of applying genomics to such areas as reproductive genetic testing, 'genetic enhancement' and germline gene transfer. This could help research into personal genomics. The director of the US National Institutes of Health, Francis Collins, calls for a revolution in personalized medicine. Genome sequence of the human malaria parasite Plasmodium falciparum. Over the next 10 years, the Government’s ambition is to create the most advanced genomic healthcare system in the world, underpinned by the latest scientific advances. The reclassification of neuromuscular diseases32 and certain types of cancer33 provides striking initial examples, but many more such applications are possible. More efficient strategies for detecting rare alleles involved in common disease are also needed, as the hypothesis that alleles that increase risk for common diseases are themselves common30 will probably not be universally true. | Article | PubMed | ChemPort |. Genomics also provides greater opportunity to understand ancestral origins of populations and individuals, which raises issues such as whether genetic information should be used for defining membership in a minority group. This vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field. Although these principles have been generally realized in the case of genomic DNA sequencing, they have not been for many other types of community-resource projects (structural biology coordinates or gene expression data, for example). The vision is formulated into three major themes - genomics to biology, genomics to health, and genomics to society - and six crosscutting elements. The ability to determine the methylation status of all the DNA in a single cell. This is a key first step towards assigning all genes and their products to functional pathways. Proteomics. On the basis of previous experience, one effective path will begin with the study of relatively simple model organisms22, such as bacteria and yeast, and then extend the early findings to more complex organisms, such as mouse and human. In the short term, the NHGRI expects to focus on the development of appropriate, scalable technologies for the comprehensive analysis of proteins and protein machines in human health and in both rare and complex diseases. The genomic era is now a reality. | Article | ChemPort |, Guttmacher, A. E. & Collins, F. S. Genomic medicine - A primer. Francis S Collins, Eric D Green, Alan E Guttmacher, Mark S Guyer et al. Comparison of the human and mouse sequences shows that the proportion of the mammalian genome under evolutionary selection is more than twice that previously assumed. Nature Genet. The relationship of genomics to the concepts of race and ethnicity has to be considered within complex historical and social contexts. The investment of the HGP in studying the ethical, legal and social implications of these scientific advances has created a talented cohort of scholars in ethics, law, social science, clinical research, theology and public policy, and has already resulted in substantial increases in public awareness and the introduction of significant (but still incomplete) protections against misuses such as genetic discrimination. We also stress the critical importance of early, unfettered access to genomic data in achieving maximum public benefit. Rev. Large-scale production of genomic data sets The NHGRI will continue to support genomic sequencing, focusing on the genomes of mammals, vertebrates, chordates and invertebrates; other funders will support the determination of additional genome sequences from microbes and plants. This is another area in which the NHGRI will be involved through the development of new strategies and by forming partnerships. Since the launch of the Human Genome Project 30 years ago, genomics has become deeply woven into research, medicine and, increasingly, daily life. Avery, O. T., MacLeod, C. M. & McCarty, M. Studies of the chemical nature of the substance inducing transformation of pneumococcal types. 3, 698-709 (2002). Topping the list of concerns is the potential for discrimination in health insurance and employment. One example is the production of full-length complementary DNA (cDNA) sequences, for example at the Mammalian Gene Collection and Expressed Sequence Tag Projects. The use of genomic information is not limited to the arenas of biology and of health, and further research and development of policy options is also needed for the many other applications of such information. Recognizing that researchers and the public are more interested in the promise of the field than about the funding source responsible, we have focused here on the broad landscape of scientific opportunity. Imagine a world in 2030 in which examining a human genome sequence in a research lab becomes as commonplace as conducting a DNA purification. | PubMed | ChemPort |, Smith, L. M. et al. Interwoven advances in genetics, comparative genomics, high-throughput biochemistry and bioinformatics are providing biologists with a markedly improved repertoire of research tools that will allow the functioning of organisms in health and disease to be analysed and comprehended at an unprecedented level of molecular detail. At present, our understanding of DNA mutation and repair, including the important role of environmental factors, is limited. In contemplating a vision for the future of genomics research, it is appropriate to consider the remarkable path that has brought us here. | Article | PubMed | ChemPort |, Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. The vision for genomics research detailed here is the outcome of almost two years of intense discussions with hundreds of scientists and members of the public, in more than a dozen workshops and numerous individual consultations. Natl Acad. But most phenotypes, including common diseases and variable responses to pharmacological agents, have a more complex origin, involving the interplay between multiple genetic factors (genes and their products) and non-genetic factors (environmental influences). Physiol. | Article | PubMed | ChemPort |, Sachidanandam, R. et al. Genetic variation. Genes influence not only health and disease, but also human traits and behaviours. The structure of haplotype blocks in the human genome. Health Care Law Policy 3, 225-265 (2000). The challenges are broad in sweep, not parochial - some can be led by the NHGRI alone, whereas others will be best pursued in partnership with other organizations. 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