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Collins Shows off Blueprints for the House that Genomics Built

BOSTON, March 28 - The Human Genome Project may be wrapping up in the next few months, but the real work has just begun for the National Human Genome Research Institute, according to NHGRI director Francis Collins.


During a keynote address on Wednesday at the Bio-IT World Conference and Expo in Boston, Collins provided a glimpse of the institute's vision for its future once "the original goals of the Human Genome Project have been completed in April 2003." Admitting that he originally expected to "shuffle off to something else" once the human genome sequence was complete, Collins said the NHGRI now views the HGP as the first of many "grand challenges" that it hopes to tackle in future years.


This fundamental role for the HGP in NHGRI's future activities is depicted in the visual metaphor the institute has developed to communicate the next phase of genomic research - a three-story building that rests upon the foundation of the Human Genome Project. Using an architect's watercolor rendering of a Frank Lloyd Wright-style home to illustrate the concept, Collins said that the first floor represents "genomics to biology" (basic research), the second "genomics to health" (medical applications), and the top floor "genomics to society" (non-medical applications and ethical and social issues) - each one of the broad goals the institute has set out for itself in the coming years.


In addition, the building contains six vertical supports that cut across each floor, representing their importance as enabling elements, Collins said. The pillars represent computational biology, ELSI (ethical, legal, and social issues), education, training, technical development, and resources, he said.


A peer-reviewed paper describing the NHGRI plan in detail is scheduled for publication in mid-April, Collins said, but in the meantime, he was able to share some of the goals that each of the three segments will tackle over the coming years.


Grand challenges in the area of "genomics to biology," for example, include defining the structure of human variation, sequencing a multitude of additional genomes, reducing the cost of sequencing to $1,000 per genome, identifying all functional elements in the genome, identifying all the proteins in the cell and their functions, and developing a computational model of the cell. Work has already begun on some of these areas, Collins said, citing the International Haplotype Mapping Project and the Encode (Encyclopedia of DNA Elements) initiative as examples.


In the medical arena of "genomics to health," the goals are a bit broader, and include developing a strategy for identifying the genetic and environmental risk factors for disease, developing "sentinel systems" for the early detection of disease, and using genomics to improve the health of people in the developing world.


Collins said NHGRI is interested in finding ways to get high-throughput robotic screening methods for small molecules into the hands of academic researchers. While the academic community is unfamiliar with this approach currently, he said, it would provide an effective means of understanding the biological pathways that are implicated in diseases. In addition, he said, it would provide an excellent partnership opportunity between academia and industry, a prospect that NIH director Elias Zerhouni is apparently "bullish" about.


Collins also called for "a large cohort of a half a million people in the US for genotype-phenotype correlation studies." US researchers could greatly benefit from such a project, which would be similar to initiative already underway in the UK, Estonia, and Iceland," he said.


The third floor of the house that genomics built, "genomics to society," may prove to be the most challenging. Goals under this topic include enhancing genetic privacy and genetic discrimination protection, encouraging "appropriate" patenting and licensing policies in the field of genomics, understanding the relationship between genomics, race, and ethnicity in order to resolve "the often contentious dialog about race," and assessing the ramifications of genetic factors for behavior.


Much of the work in resolving these issues will have to take place well outside the auspices of NHGRI, Collins noted - a situation that so far has proven disappointing. For example, he noted with obvious frustration, it has taken six years for a genetic discrimination bill to work its way through congress, where it is still languishing at the subcommittee level.


"Our government system is not used to the idea of prospective or preventative action," he said. "They're used to reacting to a crisis. The idea of preventing a crisis never appears."   

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