Essays on Science and SocietyGenome-Sequencing Anniversary

First Steps on a Long Road

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Science  11 Feb 2011:
Vol. 331, Issue 6018, pp. 691
DOI: 10.1126/science.1203235

DNA variations and their interaction with diverse environmental pressures are how nature's fundamental forces shape nearly every facet of life. The first human genome sequence, published in 2001, provided a canonical reference from which to understand genome structure, as well as a registry of functional units. Before 2001, only a handful of examples of genetic risk factors existed for common human diseases. At present, thousands of genes that influence susceptibility to hundreds of disease-associated phenotypes have been identified. Today, with advanced, low-cost technologies, we have embarked on the characterization of genomic variation and associated gene networks. However, our understanding of complex phenotypes is far from complete. Knowledge of the human genome has led to a wave of discoveries (e.g., transgenerational epigenetic inheritance) that have shaken some of the foundations upon which biology is built. We have learned that the human genome is much more dynamic than previously thought. Elucidating its complexity will require a more systems-level approach, including comprehensive integration with other data dimensions, such as RNA, metabolite, protein, and clinical data. For me, although this past decade has exposed many amazing aspects of the genome, it has revealed the existence of a world about which we know very little. We will have to become masters of information if we ever hope to go from the big data sets coming to dominate biology to knowledge and to understanding.

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