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NHGRI Says It Won t Publish Final Human-Genome Draft

SAN FRANCISCO, July 31 - Come next April, there will be a lot of high-visibility celebrations heralding the completion of the final draft of the human-genome sequence. Just don't expect to see a journal article like the one that made public the first draft in February 2001.


Instead, the genomic community can expect a public announcement trumpeting the completion of the final draft, which will quietly be deposited into GenBank, said National Human Genome Research Institute spokesman Geoff Spencer.


What the NHGRI will publish will be a strategic plan for itself that Spencer said will address issues like haplotype mapping and genetic variation. The NHGRI is currently in the process of selecting a journal to publish this plan, he said.


After April, however, the NHGRI will begin a sort of publishing odyssey in which each of the human genome's 24 chromosomes, including the X and Y, will be reviewed in its own scientific paper. The Institute is currently negotiating with Nature to publish these papers, said Spencer.


Some scientists were surprised to learn that no final publication was planned.


I'd be "personally surprised if there was not a grand publication in the end," said Daniel Rokhsar, associate director for computational genomics at the US Department of Energy's Joint Genome Institute. "It seems like there should be a grand finale to the thing."


Other scientists, though they share Rokhsar's sentiment, chose not speak on the record, citing the politicized nature surrounding the 2001 genome publications. Still other researchers remained convinced that a reference paper was in the works.


A scientist with ties to the human-genome project said a sequence-reference paper was being considered and that there are talks underway that center on several options. Among these are publishing a paper in Science, Nature, a joint publication, or possibly publishing it in another journal, such as Cell, Molecular and Cellular Biology, Genes and Development, or in the Proceedings of the National Academy of Sciences.


"Science and Nature are just the tip of the enormous iceberg" of journals, said the scientist, who spoke on the condition of anonymity.


But NHGRI Deputy Director Alan Guttmacher, speaking through a spokesperson, held fast. There "are no plans to do a publication like the one in February 2001," he said. "There is no plan to publish a paper about the reference sequence in 2003."


Why the apparent confusion?


Robert Waterston, director of the Genome Sequencing Center at the Washington University School of Medicine, posited that the community's expectation of a final reference paper may be getting mixed up with the NHGRI's plans to publish a strategic planning paper in April followed by the 24 chromosome-based analysis papers.


Waterston said there is "no major need" for a final reference paper, though he said he believes there might be "a need to revisit" the original paper in a way that "could be done succinctly." Such a paper might ask how well scientists have found genes within the human genome, he suggested.


In April, what will be called the final sequence "will be 99.99 percent accurate, and the only gaps that will remain will be from regions that are impossible to clone or sequence by current methods," according to the NHGRI. 


Moreover, scientists finishing the sequence are having ongoing group telephone discussions to determine exactly what "finished" means and to talk about the "good faith efforts" used to attempt to close gaps, said Waterston.


In addition to the announcement of the final sequence and publication of a strategic plan, the NHGRI in April has planned a "celebration" of DNA to coincide with the 50th anniversary of the Watson-Crick discovery.


Should the final draft of the human-genome sequence be published? Or will an announcement and a 24-part chromosome roundup suffice? GenomeWeb wants to know what you think. E-mail your opinions to [email protected] 


GenomeWeb will print your responses in a later article. Messages will remain anonymous unless respondents supply their names, titles, and affiliations.

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