Complete genome map opens roads for science

In what many are hailing as a historic milestone in the annals of modern science, researchers have announced the successful completion of a project to sequence the human genome.

The 13-year, $2.7 billion undertaking drew to a close Monday, 50 years to the month after scientists Francis Crick and James Watson published their discovery of the structure of DNA, the biochemical instruction book for organic life archived in the centers of cells.

Now, biologists are unrolling a fresh research blueprint for genome-related research, drawn for what National Human Genome Research Institute Director Francis Collins and colleagues have termed "the true dawning of the genomic era."

They've assembled the parts list in the right order. Now they hope to accelerate efforts to understand how the genetic information they've uncovered yields the complexities and diversity of living organisms.

"We have opened the door into a vast and complex new biological landscape," says Aristides Patrinos, director of the US Department of Energy's Office of Biological and Environmental Research.

Even before the project ended, it was having a measurable impact on areas ranging from medicine to the war against bioterrorism. Researchers say information from the genome project has allowed them to develop genetic tests that can help identify broad classes of cancer. Gene therapies, in which defective genes are identified and replaced, remain in their infancy. But scientists claim some success in treating mice with sickle-cell disease.

Microcircuits that can quickly analyze DNA samples placed on them are being used in equipment designed to test for many of the microbes thought to be the most likely weapons in a bioterrorism attack.

Meanwhile, researchers using sequencing and computational techniques developed for the Human Genome Project are looking for microbes that could help clean up nuclear waste, refine gasoline more efficiently and with less energy, or act as a source of hydrogen for fuel.

The praise and predictions surrounding Monday's announcement of the Human Genome Project's end has a familiar ring. In February 2001, with fanfare that included capturing the covers of the world's two leading general-science journals, researchers with the Human Genome Project and a private human-genome effort published rough drafts of the sequence.

Yet the drafts were laced with errors and contained vast gaps in the sequence of pairings among the four chemical "bases" that combine to form the "runs" of the now-iconic twisted-ladder structure of DNA.

The version announced Monday is as complete as today's technology can make it, researchers say. The error rate has been cut from one mistake in every 1,000 base pairs to one in every 10,000 - an accuracy that applies to 99 percent of the genome's 3 billion base pairs.

Just as important, researchers add, are the finished product's vast stretches of uninterrupted genetic information which is expected to radically shorten the time it takes scientists to hunt for genes.

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