A vision for the future of genomics research
A blueprint for the genomic era.
Francis S. Collins, Eric D. Green, Alan E. Guttmacher and Mark S. Guyer on behalf of the US National Human Genome Research Institute*
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, isa landmark event. The genomic era is now a reality. In contemplating a vision for the future of genomics research,it is appropriate to consider the remarkable path that has brought us here. The rollfold (Figure 1) shows a timeline of landmark accomplishments in genetics and genomics, beginning with Gregor Mendel’s discovery of the laws of heredity1 and their rediscovery in the early days of thetwentieth century.Recognition of DNA as the hereditary material2, determination of its structure3, elucidation of the genetic code4, development of recombinant DNA technologies5,6, and establishment of increasingly automatable methods for DNA sequencing7–10 set the stage for the Human Genome Project (HGP) to begin in 1990 (see also www.nature.com/nature/DNA50). Thanks to the vision of the originalplanners, and the creativity and determination of a legion of talented scientists who decided to make this project their overarching focus, all of the initial objectives of the HGP have now been achieved at least two years ahead of expectation, and a revolution in biological research has begun. The project’s new research strategies and experimental technologies have generated a steady stream ofever-larger and more complex genomic data sets that have poured into public databases and have transformed the study of virtually all life processes. 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. Interwoven advances in genetics, comparative genomics,highthroughput biochemistry and bioinformatics
*Endorsed by the National Advisory Council for Human Genome Research, whose members are Vickie Yates Brown, David R. Burgess, Wylie Burke, Ronald W. Davis, William M. Gelbart, Eric T. Juengst, Bronya J. Keats, Raju Kucherlapati, Richard P. Lifton, Kim J. Nickerson, Maynard V. Olson, Janet D. Rowley, Robert Tepper, Robert H. Waterston and Tadataka Yamada.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. Genome sequences, the bounded sets of information that guide biological development and function, lie at the heart of this revolution. In short, genomics has become a centraland cohesive discipline of biomedical research. The practical consequences of the emergence of this new field are widely apparent. Identification of the genes responsible for human mendelian diseases,once a herculean task requiring large research teams, many years of hard work, and an uncertain outcome, can now be routinely accomplished
© 2003 Nature Publishing Group
in a few weeks by a singlegraduate student with access to DNA samples and associated phenotypes, an Internet connection to the public genome databases, a thermal cycler and a DNA-sequencing machine. With the recent publication of a draft sequence of the mouse genome11, identification of the mutations underlying a vast number of interesting mouse phenotypes has similarly been greatly simplified. Comparison of the human andmouse sequences shows that the proportion of the mammalian genome under evolutionary selection is more than twice that previously assumed. Our ability to explore genome function is increasing in specificity as each subsequent genome is sequenced. Microarray technologies have catapulted many laboratories from studying the expression of one or two genes in a month to studying the expression of...