Thus, the generation of additional genome sequences from several well-chosen species is crucial to the functional characterization of the human genome (Box 1). Natl Acad. This could help research into personal genomics. This National Genomic Healthcare Strategy sets out a plan to deliver the future of care in the NHS by enabling the provision of world-leading genomic healthcare to patients in the UK and across the world. An example would be the analysis of gene expression in peripheral blood leukocytes to predict drug response. Although an executive order protects US government employees against genetic discrimination, this does not apply to other workers. Analyse the impact of genomics on concepts of race, ethnicity, kinship, individual and group identity, health, disease and 'normality' for traits and behaviours. Elucidate the organization of genetic networks and protein pathways and establish how they contribute to cellur and organismal phenotypes. Elucidating the structure of genomes and identifying the function of the myriad encoded elements will allow connections to be made between genomics and biology and will, in turn, accelerate the exploration of all realms of the biological sciences. The mapping of the first human genome in 2000 heralded the start of the 21st century and introduced the century of genomics. | Article | PubMed | ChemPort |, Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Figure 1 Timeline To view a larger version of this image download the pdf (1.9 MB). feature A vision for the future of genomics research The completion of a high-quality, comprehensive sequence of The relative priorities of each component must be addressed in the light of limited resources to support research. 40, 50-8 (2003). A vision for the future of genomics research. The time is right for a focused effort to understand, and potentially to reclassify, all human illnesses on the basis of detailed molecular characterization. Nature 418, 244-251 (2002). Understanding Our Genetic Inheritance. Molecular probes, including small molecules and RNA-mediated interference, for exploring basic biology and disease. Clinical opportunities for gene-based pre-symptomatic prediction of illness and adverse drug response are emerging at a rapid pace, and the therapeutic promise of genomics has ushered in an exciting phase of expansion and exploration in the commercial sector13. Sci. In roughly Use of genetic data to define racial groups, or of racial categories to classify biological traits, is prone to misinterpretation. The NHGRI brings two unique assets to this challenge. The NHGRI is particularly interested in stimulating research approaches to the identification of gene variants that confer disease resistance and other manifestations of 'good health'. | PubMed | ChemPort |, Lynch, H. T. & de la Chapelle, A. Genomic medicine: hereditary colorectal cancer. Digital citation created by the Bioethics Research Library, Georgetown University, for the National Information Resource on Ethics and Human Genetics, a project funded by the United States National Human Genome Research Institute. National Research Council. Conversations between diverse parties based on an accurate and detailed understanding of the relevant science and ethical, legal and social factors will promote the formulation and implementation of effective policies. An enhanced ability to incorporate information about genetic variation into human genetic studies would usher in a new era for investigating the genetic bases of human disease and drug response (see Grand Challenge II-1). A choice had to be made between portraying a broad view of the future of genomics research and focusing more narrowly on the specific role of the NHGRI. It will also require a critical examination of how the scientific community understands and uses these concepts in designing research and presenting findings, and of how the media report these. 32, 461-552 (2002). In the next few years, society must not only continue to grapple with numerous questions raised by genomics, but must also formulate and implement policies to address many of them. Ethical, legal and social research The NHGRI's ELSI research activities will increasingly focus on fundamental, widely relevant, societal issues. A significant amount of research on this issue has been done40, policy options have been published41-43, and many US states have now passed anti-discrimination insurance legislation and antidiscrimination employment legislation (Available through the Legislative Database). Define policy options, and their potential consequences, for the use of genomic information and for the ethical boundaries around genomics research. Math. Grand Challenge. Many SNPs have been identified28, and most are publicly available [ncbi.nlm.nih.gov]. Understand how genomes change and take on new functional roles. Ask questions later. Recognizing that technology development is an expensive and high-risk undertaking, the NHGRI is nevertheless committed to supporting and fostering technology development in many of these crucial areas, including the following. Genet. So too could a better understanding of the malarial parasite itself and of its mosquito vector, which the recently reported genome sequences38, 39 should provide. A subcommittee of the National Advisory Council for Human Genome Research, including Wylie Burke, William Gelbart, Eric Juengst, Maynard Olson, Robert Tepper and David Valle, provided a critical sounding board for draft versions of this document. These grand challenges are intended to be bold, ambitious research targets for the scientific community. The suc-cessful completion of the HGP this year thus represents an opportunity to look forward and offer a blueprint for the future of genomics research over the next several years. 94, 441-448 (1975). Just as the HGP and related developments have spawned new areas of research in basic biology and in health, they have also created opportunities for research on social issues, even to the extent of understanding more fully how we define ourselves and each other. Alternatively, focusing on a few well-characterized systems in mammals will be a useful test of the approach (see, for example, The Signaling Gateway. | ChemPort |, Jackson, D. A., Symons, R. H. & Berg, P. Biochemical method for inserting new genetic information into DNA of Simian Virus 40: circular SV40 DNA molecules containing lambda phage genes and the galactose operon of Escherichia coli. The genome 'parts list'. Annu. Deciphering the role of genes in human health and disease is a formidable problem for many reasons, including impediments to defining biologically valid phenotypes, challenges in identifying and quantifying environmental exposures, technological obstacles to generating sufficient and useful genotypic information, and the difficulties of studying humans. Nature 420, 520-562 (2002). A “Strategic vision for improving human health at The Forefront of Genomics” was recently published in the journal Nature identifying the most compelling research priorities and opportunities in human genomics for the coming decade. The structure of haplotype blocks in the human genome. The new era will flourish best in an environment where such traditional boundaries become ever more porous. Sci. Imagine a world in 2030 in which examining a human genome sequence in a research lab becomes as commonplace as conducting a DNA purification. Systematic analyses of somatic mutations, epigenetic modifications, gene expression, protein expression and protein modification should allow the definition of a new molecular taxonomy of illness, which would replace our present, largely empirical, classification schemes and advance both disease prevention and treatment. Fluorescence detection in automated DNA-sequence analysis. A vision for the future of genomics research. Genetics seeks to correlate variation in DNA sequence with phenotypic differences (traits). Thus, many observers have concluded that effective federal legislation is needed, and the US Congress is currently considering such a law. (2003) by F S Collins, E D Green, A E Guttmacher, M S Guyer Venue: Nature: Add To MetaCart. Decisions about research in this area are often best made with input from a diverse group of individuals and organizations. Such strategies should enable the research community to achieve the following: For common diseases, the interplay of multiple genes and multiple non-genetic factors, not a single allele, usually dictates disease susceptibility and response to treatments. The authors were greatly assisted by Kathy Hudson, Elke Jordan, Susan Vasquez, Kris Wetterstrand, Darryl Leja and Robert Nussbaum. To reach fruition, such studies need more robust experimental (Box 2) and computational (Box 3) methods that use this new knowledge of human haplotype structure29. Only 1-2 percent of its bases encode proteins7, and the full complement of protein-coding sequences still remains to be established. Genomics will provide the ability to substantively advance insight into evolutionary variation, which will, in turn, yield new insights into the dynamic nature of genomes in a broader evolutionary framework. 6934, April 24, 2003, p. 835-847. Genetic contributions to health, disease and drug response. Genome sequence of the human malaria parasite Plasmodium falciparum. Improved genotyping methods and better mathematical methods are necessary to make effective use of information about the structure of variation in the human genome for identifying the genetic contributions to human diseases and other complex traits. This example offers promise that therapies based on genomic information will be particularly effective. A final word is appropriate about the breadth of the vision articulated here. Accordingly, the NHGRI expects that its involvement in this area of research will often be implemented through partnerships and collaborations. Make big plans; aim high in hope and work, remembering that a noble, logical diagram once recorded will not die, but long after we are gone will be a living thing, asserting itself with ever- growing insistency" (attributed to Daniel Burnham, architect). A focused effort to use a genomic approach to characterize serum proteins exhaustively in health and disease might also be highly rewarding. Clin. The discovery of variants that affect risk for disease could potentially be used in individualized preventive medicine - including diet, exercise, lifestyle and pharmaceutical intervention - to maximize the likelihood of staying well. | PubMed | ChemPort |, Smith, L. M. et al. The information needed to determine the therapeutic potential of a gene generally overlaps heavily with the information that reveals its function. In partnership with the Government and the NHS, Genomics England will help deliver this vision, working to improve diagnoses and personalised medicine, enabling predictive and preventative care, and ensuring a seamless interface between genomic research and healthcare delivery. | Article | PubMed | ChemPort |, Fuller, B. P. et al. The ability to synthesize long DNA molecules at high accuracy for $0.01 per base, allowing the synthesis of gene-sized pieces of DNA of any sequence for between $10 and $10,000. The articulation of a new vision is an opportunity to explore transformative new approaches to achieve health benefits. Trends Genet. Similarly, a better understanding of epigenetic changes (for example, methylation and chromatin remodelling) is needed to comprehend the full repertoire of ways in which DNA can encode information. | Article | PubMed | ChemPort |, Anderlik, M. R. & Rothstein, M. A. Privacy and confidentiality of genetic information: What rules for the new science? Nature Rev. J. Exp. High Attention Score compared to outputs of the same age (95th percentile) Science 296, 2225-2229 (2002). One useful research resource would be a 'healthy cohort', a large epidemiologically robust group of individuals (Box 1) with unusually good health, who could be compared with cohorts of individuals with diseases and who could also be intensively studied to reveal alleles protective for conditions such as diabetes, cancer, heart disease and Alzheimer's disease. Rev. Curr. For instance, in reproductive genetic testing, it is crucial to include perspectives from the disability community. 8, 437-479 (1902). The National Human Genome Research Institute (NHGRI), in budget terms a rather small (less than 2 percent) component of the NIH, will work closely with all these organizations in exploring and supporting these biomedical research capabilities. The US Equal Employment Opportunity Commission has ruled that the Americans with Disabilities Act should apply to discrimination based on predictive genetic information44, but the legal status of that construct remains in some doubt. Research is needed to understand the relationship between genomics and health disparities by rigorously evaluating the diverse contributions of socioeconomic status, culture, discrimination, health behaviours, diet, environmental exposures and genetics. The array of additional users is likely to include the life, disability and long-term care insurance industries, the legal system, the military, educational institutions and adoption agencies. Genomics will facilitate further understanding of this aspect of human biology and allow the identification of gene variants that are important for the maintenance of health, particularly in the presence of known environmental risk factors. To minimize such misinterpretation, the biological and sociocultural factors that interrelate genetics with constructs of race and ethnicity need to be better understood and communicated within the next few years. Thus, we need to develop policy options for data access and for patenting, licensing and other intellectual property issues to facilitate the dissemination of genomics data. Genet. A blueprint for the genomic era. | Article | PubMed | ChemPort |, Van der Weyden, L., Adams, D. J. | Article | PubMed | ChemPort |. | PubMed | ChemPort |, Wagner, K. R. Genetic diseases of muscle. Saved by Glenn Kageyama As it has in the past, such research will continue to have important ramifications for all three major themes of the vision presented here. Nature 409, 928-933 (2001). But the full solution of the health disparities problem can only come about through a committed and sustained effort by governments, medical systems and society. The study of inter-species sequence comparisons is important for identifying functional elements in the genome (see Grand Challenge I-1). A printable version of this document is also available. This has caused serious problems for those who have been stigmatized by the suggestion that alleles associated with what some people perceive as 'negative' physiological or behavioural traits are more frequent in certain populations. 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). Nature - Macmillan Publishers Ltd 2003 Registered. Determine how the genome-encoded components function in an integrated manner to perform cellular and organismal functions. Avery, O. T., MacLeod, C. M. & McCarty, M. Studies of the chemical nature of the substance inducing transformation of pneumococcal types. Already, such projects as the UK Biobank [ukbiobank.ac.uk], the Marshfield Clinic's Personalized Medicine Research Project [marshfieldclinic.org] and the Estonian Genome Project [geenivaramu.ee] seek to provide such resources. Such research should be interdisciplinary and use the tools and expertise of many fields, including genomics, health education, health behaviour research, health outcomes research, healthcare delivery analysis, and healthcare economics. Although the pharmaceutical industry applies this approach widely as the first step in drug development, few academic investigators have access to this methodology or are familiar with its use. At the genetic level, the architecture of regulatory interactions will need to be identified in different cell types, requiring, among other things, methods for simultaneously monitoring the expression of all genes in a cell12. Soc. If we take malaria as an example, a better understanding of human genetic factors that influence susceptibility and response to the disease, and to the drugs used to treat it, could have a significant global impact. Develop a comprehensive and comprehensible catalogue of all of the components encoded in the human genome. The Future of the Human Genome. 3, 698-709 (2002). The NHGRI plans to release a revised programme announcement and other grant solicitations later this year, providing more specific guidance to extramural researchers about plans for the implementation of this vision. Other types of known functional sequences, such as genetic regulatory elements, are even less well understood; undoubtedly new types remain to be defined, so we must be ready to investigate novel, perhaps unexpected, ways in which DNA sequence can confer function. Beyond coding sequences and transcriptional units, new computational and experimental approaches are needed to allow the comprehensive determination of all sequence-encoded functional elements in genomes. The NHGRI will continue to be a leader in exploring effective solutions to the issues of integrating, displaying and providing access to genomic information. Race is a largely non-biological concept confounded by misunderstanding and a long history of prejudice. When the results of the ENCODE Project show evidence of efficacy and affordability at the pilot scale, consideration will be given to implementing the appropriate technologies across the entire human genome. Exploration of the feasibility of expanding chemical genomics in the academic and public sectors, particularly with regard to the establishment of one or more centralized facilities, will be pursued by the NHGRI in partnership with others. adshelp[at]cfa.harvard.edu The ADS is operated by the Smithsonian Astrophysical Observatory under NASA Cooperative Agreement NNX16AC86A Genomics and other large-scale approaches to biology offer the potential for developing new tools to detect many diseases earlier than is currently feasible. Determining the absolute abundance of each protein, including all modified forms, will be an important next step. 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. To be successful, this research must encompass both 'basic' investigations that develop conceptual tools and shared vocabularies, and more 'applied', 'translational' projects that use these tools to explore and define appropriate public-policy options that incorporate diverse points of view. Like Shakespeare, we are inclined to say, "what's past is prologue" (The Tempest, Act II, Scene 1). Genes and gene products do not function independently, but participate in complex, interconnected pathways, networks and molecular systems that, taken together, give rise to the workings of cells, tissues, organs and organisms. 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. This will be a ground-breaking journey to improve the mental and physical wellbeing of the UK population and millions more worldwide. Nature Biotechnol. The NHGRI's priorities and areas of emphasis will also evolve as milestones are met and new opportunities arise. Microbiol. A vision for the future of genomics research. These are generally research areas that are not specific to a particular disease or organ system, but have broader biomedical and/or social implications. Hilbert, D. Mathematical problems. Mammal-to-mammal sequence comparisons have revealed large numbers of homologies in non-coding regions11, few of which can be defined in functional terms. For each theme, we present a series of grand challenges, in the spirit of the proposals put forward for mathematics by David Hilbert at the turn of the twentieth century18. In addition, we envision a more direct role for both the extramural and intramural programmes of the NHGRI in bringing a genomic approach to the translation of genomic sequence information into health benefits. New goals for the US Human Genome Project: 1998-2003. That will include a vigorous effort to increase the representation of minorities in the ranks of genomics researchers. Science 270, 391-393 (1995). Social and other environmental factors are major contributors to health disparities; indeed, some would question whether heritable factors have any significant role. Indeed, public-private partnerships, such as the SNP Consortium, the Mouse Sequencing Consortium and the International HapMap Project, provide powerful new models for the generation of public data sets with immediate and far-reaching value. The successful completion of the HGP this year thus represents an opportunity to look forward and offer a blueprint for the future of genomics research over the next several years. Tools for targeted manipulation of the mouse genome. The completion of a high-quality, comprehensive sequence of the human genome, in this fiftieth anniversary year of the discovery of the double-helical structure of DNA, is a landmark event. Natl Acad. The outcome of the International HapMap Project will significantly shape the future direction of the NHGRI's research efforts in the area of genetic variation. 81, 741-66 (2001). Pharmaceuticals on the market target fewer than 500 human gene products34. Microarray technologies have catapulted many laboratories from studying the expression of one or two genes in a month to studying the expression of tens of thousands of genes in a single afternoon12. 17, 502-510 (2001). Finally, the degree to which any new genomic sequence is completed - finished, taken to an advanced draft stage or lightly sampled - will be determined by the use for which the sequence is generated. Much effort has gone into developing appropriate guidelines for the use of stored tissue specimens, for community consultation [nigms.nih.gov] when conducting genetic research with identifiable populations, and for the consent of non-examined family members [nih.gov] when conducting pedigree research, but confusion still remains for many investigators and institutional review boards. It will be important to develop, refine and scale up techniques that modulate gene expression, such as conventional gene-knockout methods23, newer knock-down approaches24 and small-molecule inhibitors25 to establish the temporal and cellular expression pattern of individual proteins and to determine the functions of those proteins. Use of the information for the development of therapeutic and other products necessarily entails consideration of the complex issues of intellectual property (for example, patenting and licensing) and commercialization. Establishing a true understanding of how organized molecular pathways and networks give rise to normal and pathological cellular and organismal phenotypes will require more than large, experimentally derived data sets. A vision for the future of genomics research. Even less is known about the function of the roughly half of the genome that consists of highly repetitive sequences or of the remaining non-coding, non-repetitive DNA. The recent finding that mutation rates vary widely across the mammalian genome11 raises numerous questions about the molecular basis for these evolutionary changes. Identify genes and pathways with a role in health and disease, and determine how they interact with environmental factors. Nature Genet. | Article | PubMed | ChemPort |, The Chipping Forecast II. Making certain that genetic tests offered to the public have established clinical validity and usefulness must be a priority for future research and policy making. Nature Rev. For this system to continue to work, the producers of community-resource data sets have an obligation to make the results of their efforts rapidly available for free and unrestricted use by the scientific community, and resource users have an obligation to recognize and respect the important contribution made by the scientists who contribute their time and efforts to resource production. 1, 116-125 (2000). By engaging the energetic and interdisciplinary genomics-research community more directly in health-related research and by exploiting the NHGRI's ability to pursue opportunities across all areas of human biology, the institute seeks to participate directly in translating the promises of the HGP into improved human health. These accomplishments fulfil the expan-sive vision articulated in the 1988 report of the National Research Council, Mapping and Sequencing the Human Genome 14. 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 a genotype at very low cost, allowing an association study in which 2,000 individuals could be screened with about 400,000 genetic markers for $10,000 or less. Genomics England is registered with the Information Commissioner's Office, registration number ZA021653, [ Placeholder content for popup link ] Volunteers send in a DNA sample and information on their phenotype and medical records, this helps researchers to better understand the association between our genes, our environment, and our phenotype (our physical appearance). Transferring world-leading advances in genomic research to front line diagnoses and treatments will ultimately provide better health outcomes at lower cost. 2, 908-916 (2001). | Article | PubMed | ChemPort |, Sidow, A. Sequence first. We expect to have partnerships not only with other public funding sources, such as the other 26 NIH institutes and centres, but also with many other governmental agencies, private foundations and private-sector organizations. The genomic approach of technology development and large-scale generation of community resource data sets has introduced an important new dimension into biological and biomedical research. The study of sequence variation within species will also be important in defining the functional nature of some sequences (see Grand Challenge I-3). A vision for the future of genomics research. It is also important that there be robust research to investigate the implications, for both individuals and society, of uncovering any genomic contributions that there may be to traits and behaviours. Report of the individual chapters and take on new functional roles and comparative analysis of gene function information. 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