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NHGRI At ASHG, Collins Reports on Sequencing, Haplotypes, More


During the 54th annual American Society of Human Genetics meeting last fall, National Human Genome Research Institute leader Francis Collins sat down to discuss progress and future plans for the institute. The briefing tied into the report of the same theme that Collins’ team delivers each year to the ASHG board.

Foremost on Collins’ mind was the landmark, albeit anticlimactic, publication in Nature reporting the finished human genome sequence. With just 341 remaining gaps that cannot be closed with modern technology, Collins called the final work “very gratifying,” noting that its error rate is 1 out of every 100,000 base pairs — an accuracy higher than originally targeted by the sequencing consortium.

The community hasn’t seen the last of human genome-sequence publications, though. Researchers’ reports on some of the individual chromosomes are still in the works; Collins expected the remainder to be published by mid-year 2005.

In another topic that got a fair amount of attention at the conference, Collins addressed the HapMap program’s progress in genotyping populations across three major geographic areas. Early work, he said, indicates that 85 percent to 90 percent of human variation occurs within a population, with the rest occurring between populations.

Whether such genomic data supports the idea of distinct human races became a hot topic at ASHG, and discussions of the issue seemed to have some people on tenterhooks. “Maybe we need to throw out the term ‘race’ because it has so much baggage,” said Collins, who contended that markers found to distinguish between populations indicate “ancestral geographic regions” rather than the more cultural concept of race.

Collins also spoke about the idea of a large-scale cohort study in the US akin to what the UK has done with Biobank. Such a project would entail studying “very large numbers of people over a long period of time,” he said. “That would be a major undertaking along the lines of the genome project” in terms of cost and time commitment, he added. While he’s hopeful that it could one day get off the ground, simply proposing the concept is a dead end without a bill barring genetic discrimination — as it is today, people have considerable incentive not to participate in such a study, he said.

A bill that would’ve done this stalled in Congress last year, but Collins said he hoped to see it reintroduced in 2005. “At the moment,” he said, a large cohort study in the US is “purely a scientific discussion.” To that end, a group at NHGRI has been “working on this intensely for the past six months” to determine basic feasibility and logistical issues such as how many people would be needed, he said. Those efforts could result in a white paper as early as this spring.

— Meredith Salisbury


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