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Genomic Research

By 2025, key elements of the success of the Human Genome project – distributed, high throughput and increasingly inexpensive data acquisition, publicly available curated databases, and advanced computational methods for relating new data to multiple levels of existing information - will have led to an enormous shared pool of data about genetic variation in humans, animals, viruses, and other pathogens. The systematic study of human genetic variation and its relationship to disease and response to drugs, environmental hazards, and behavior will yield new opportunities and new ethical dilemmas for health care and prevention. Current efforts to catalog the variants in the human population including changes at the single nucleotide level (SNPs) and larger blocks of sequences up to 60,000 bases that tend to be inherited together (haplotypes) will continue. Additional work in analyzing genetic variation in cases and controls for a range of clinical conditions and tracing the development of new virus strains through whole genome analysis will be accomplished. High throughput bioassays to determine the biological activity of a large number of chemical compounds in order to identify those useful for biological research and potential drug development will challenge NLM to manage the data for a large set of chemicals and to link these appropriately to the continuously growing host of biomedical reports and further published commentary in the literature.

Strategic Visions Working Group Meeting Strategic Visions Working Group Meeting

NLM’s involvement in planning and supporting basic biomedical research will continue to grow as the cycle continues. Investment in shared data will lead to more rapid scientific discovery, which will in turn lead to more publications and more shared data, which will in turn lead to more scientific discovery.

As the amount of data and information increases, researchers – not to mention health professionals – will need assistance in identifying where new scientific opportunities lie. Sophisticated "discovery" systems will lead researchers to scientifically interesting connections and patterns in the huge quantities of available data, thus speeding new scientific insights. The public will demand their individual genetic fingerprints, and incorporation of such information into practice will present a major challenge to health care providers. Health professionals and the general public will need help to use and interpret the flood of data.

Genome research will have completed the shift from the initial sequencing of the genomes of organisms (viruses to humans) to figuring out how to apply this new knowledge to understanding biological systems and ultimately improving human health. Experimental blocking of gene translation and protein transcription with small molecules from shared repositories will have simplified the task of filling the gaping holes in scientific understanding of the range of protein products of genes, their interactions, and the pathways through which cellular and tissue metabolism is conducted. This will greatly increase the circumstances under which genetic testing of individual patients can reliably predict clinical response or side effects of specific drugs. Better understanding of "metabolomics"[1] combined with prospective cohort studies will significantly expand understanding of the circumstances in which genetic susceptibility plus exposure to environmental toxins is likely to yield certain disease states.

Ultimately, we may see developed a classification of disease based on molecular characterization rather than traditional empirical and organ classification systems. Such a molecular taxonomy could provide the basis for earlier detection and more effective and less costly treatment.