TAILIEUCHUNG - The future Is Bright - Charting a course for genomic medicine from base pairs to bedside

Stratified medicine relies heavily on data analysis and the amount of medically relevant data that are available electronically increases dramatically. However, these data are generated in complex forms and are acquired and recorded in various ways. Incompatibility among research databases, electronic medical records and laboratory information management systems is then an issue. The challenge is to organise electronic data and to make them usable for research. Open and standardised databases are required to make use of all available data in order to identify stratification biomarkers and to stratify clinical trial recruitment. Another challenge is to deal with the generation. | GENOMICS METHODS HEALTH FROM LAB TO CLINIC Aroadmapto genomic medicine PAGE204 THE END OF THE BEGINNING Eric Lander on the impact of the human genome sequence PAGE187 MORE BASES PER DOLLAR Elaine Mardis on the march of sequencing technology PAGE198 Reflections on the first ten years of the human genomics age o NATURE 10 February 2011 Vol. 470 No. 7333 doi nature09764 PERSPECTIVE Charting a course for genomic medicine from base pairs to bedSide Eric D. Green1 Mark S. Guyer1 National Human Genome Research Institute There has been much progress in genomics in the ten years since a draft sequence of the human genome was published. Opportunities for understanding health and disease are now unprecedented as advances in genomics are harnessed to obtain robust foundational knowledge about the structure and function of the human genome and about the genetic contributions to human health and disease. Here we articulate a 2011 vision for the future of genomics research and describe the path towards an era of genomic medicine. Since the end of the Human Genome Project HGP in 2003 and the publication of a reference human genome sequence1 2 genomics has become a mainstay of biomedical research. The scientific community s foresight in launching this ambitious project3 is evident in the broad range of scientific advances that the HGP has enabled as shown in Fig. 1 see rollfold . Optimism about the potential contributions of genomics for improving human health has been fuelled by new insights about cancer4-7 the molecular basis of inherited diseases http omim and http GWAStudies and the role of structural variation in disease8 some of which have already led to new therapies9-13. Other advances have already changed medical practice for example microarrays are now used for clinical detection of genomic imbalances14 and pharmacogenomic testing is routinely performed before administration of certain medications15 . Together these .

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