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1st EMBL/EMBO Joint Conference 2000 Session III
The human genome project
A scientist's view of what went right and what went wrong
Maynard Olson, Professor, Medicine and Genetics and Director, University of Washington Genome Centre, USA

In many respects, the Human Genome Project was a great science-policy success. In the face of great skepticism – even hostility – its proponents recognized an opportunity to energize basic biology, to build potent new links between advancing knowledge in molecular genetics and the practical arts of agriculture and medicine, to forge strong ties between biology and information technology, and to capture the public imagination. They designed a broadly based, scientifically sound program to take advantage of this opportunity and built political support for it. Ultimately, they created new institutions to implement the program and attracted the scientific talent required for its success. Furthermore, all of these goals were achieved without excessive centralization or distortion of proven mechanisms for conducting basic biological research.

However, in the fall of the year 2000, the "rags-to-riches" story of the Human Genome Project offers some sobering lessons. We have learned, for instance, that the traditional scientific culture within which the Human Genome Project has its scientific, technical, and policy roots is no match for the "new economy." When companies can change their market valuation by billions of dollars within a few weeks through sustained, self-serving distortions of scientific reality, the ordinary mechanisms by which the scientific community promotes and articulates its basic values fail. It is too early to assess the magnitude of the resultant damage. However, the nature of the threat to basic scientific values is clear:

There has been a politicalization of scientific dialog. The goal of public pronouncements has ceased to be balanced discussion of complex issues – the goal is to be perceived as a winner.

There has been an inflation of public expectations that the sequencing of the human genome will have immediate, major benefits for human health.

There has been unprecedented commercialization of early-stage scientific knowledge.

The tensions between the traditional values of science and the values of the new economy will not be resolved any time soon. Scientific traditionalists are presently on the defensive. We need to reassert ourselves, even if our voices appear quixotic in the present socioeconomic climate. Climates change.

The Human Genome Project, because of its high public profile, provides a good rallying point for a reassertion of basic scientific values. Scientists with an interest in this mission should sharpen and modernize their message. The three points enumerated above are offered as a first step in this direction.

Biography

Maynard Olson graduated from Caltech with a Bachelors degree in chemistry and received his PhD in inorganic chemistry from Stanford University in 1970, where his thesis advisor was Henry Taube. After five years on the faculty of the Department of Chemistry at Dartmouth College, he changed his research emphasis to molecular genetics, working with Benjamin Hall in the Department of Genetics at the University of Washington. During that period, in the late 1970s, he participated in early applications of recombinant-DNA techniques to problems in yeast genetics; his research with Hall included the first sequencing of a mutant eukaryotic gene and one of the first applications of restriction-fragment length polymorphisms.

In 1979, he moved to the Department of Genetics at Washington University in St. Louis, where he became a Professor of Genetics in 1986 and an Investigator of the Howard Hughes Medical Institute in 1989. At Washington University, he participated in the development of systematic approaches to the analysis of complex genomes, working both on the yeast and human genomes. This research included the development of new implementations of pulsed-field gel electrophoresis, including field-inversion gel electrophoresis, determination of the first complete electrophoretic karyotype of a eukaryotic organism, the development of computer-based methods for the construction of whole-genome physical maps based on clone fingerprints, the development of the yeast-artificial-chromosome cloning system, and introduction of STS-content mapping as an approach to the low-resolution physical mapping of mammalian genomes. In 1992, he was awarded the Genetics Society of America Medal. Later that year, he moved back to the University of Washington where he is now Professor of Medicine and Genetics and Director of the University of Washington Genome Center. In 1994, he was elected to the National Academy of Sciences.

Dr. Olson has also participated in the formulation of policy for the Human Genome Project. In 1987, he served on the National Research Council Committee on Mapping and Sequencing of the Human Genome, and from 1989 to 1992, he was a member of the Program Advisory Committee on the Human Genome at the National Institutes of Health. Presently, he is on the National Human Genome Research Institute Council.
Last updated by: Halldór Stefánsson, 1 August 2007
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