The head of Rockville-based Celera Genomics told Congress yesterday that his company had completed the initial phase of its effort to create the first human genetic blueprint and is only three to six weeks from reaching its historic goal.
A phalanx of robots at PE Corp.-Celera Genomics Group has read almost all of the 3 billion chemical letters that, chained together, form the complete library of DNA of a single human, according to J. Craig Venter, the company's president.
Scientists expect to use the completed blueprint to find treatments for the symptoms and causes of many diseases. The genetic revolution could form the basis of medicine and biology for the next 100 years.
Celera's data is scattered into 17 million tiny snippets that must be assembled like pieces of a vast jigsaw puzzle.
Assembly of these snippets, Venter told Congress yesterday, "is the most critical phase of the entire process," a technical feat far more difficult than the step just completed. But Venter added that his researchers -- using the largest civilian array of computers in the world -- would complete the work as early as the end of this month.
"People here in the assembly team immediately passed out," when they heard Venter's ambitious schedule, joked Paul Gilman, director of policy planning for Celera. But he said the company is confident of meeting its self-imposed deadline, because it perfected its assembly software when it created a genetic blueprint for the fruit fly this year. Now, it will apply its techniques to the human genome.
"I have no doubt they'll be able to complete it -- and quickly," said Matthew Heil, contributing editor of Genetic Engineering News and a Connecticut biotech consultant.
The announcement yesterday sent Celera's stock up $28 a share, or 24.4 percent, to close at $143, and triggered a broad rally in biotech stocks, with the Nasdaq biotechnology index up 4.9 percent for the day.
While yesterday's announcement was expected -- "Everybody knew this was going to happen sooner or later," Heil said -- it represented a symbolic milestone.
"When all of this started, this was the event everyone anticipated," he said.
The market reaction was also strong because Celera seemed to be moving so quickly.
"Their target date had been this summer, so this caught [Wall] Street off balance," said Eric Schmitt, a senior biotechnology analyst for SG Cowen Securities. "They're getting credit for meeting their milestones on an accelerated schedule."
Heil said yesterday's announcement represents "the first significant step in a major task -- not just sequencing but using the information to make new drugs."
After the complete blueprint -- called the genome -- is assembled, Celera will scour it for genes to try to determine the function of each.
Completion of that step should take a few months, and the finished genome will be made public shortly after, Gilman said.
If Celera succeeds, it will handily beat its main rival in the race to create the first human genetic blueprint -- an international consortium of academic laboratories led by the National Institutes of Health.
Schmitt said yesterday that the company is six months ahead of the NIH-sponsored Human Genome Project.
"I'm happy to hear that Celera has completed this part of their business plan," said Dr. Francis Collins, chief of the NIH project. "We look forward to hearing how the assembly process goes and ultimately seeing the sequence made available" to the public.
Scientists for both groups are trying to nail down the order, or sequence, of the 3 billion individual chemical units -- called nucleotide bases -- in human DNA. Certain strings of these chemical units form genes, the way strings of letters form words. Only four chemicals are in DNA's "alphabet," and they are usually referred to by their initials -- A, C, T and G.
About 100,000 genes are scattered through the human genome. A gene is any string that performs some biological function, the way that a word is any string of letters that has some meaning.
Venter adopted a radical approach to sequencing called the "shotgun" method. Celera shatters human DNA into millions of pieces and reads the order or "sequence" of the letters in those pieces. Now it will try to assemble them. (Celera breaks the genome into pieces about 500 letters long, because longer pieces are fragile and tend to break while machines are sequencing them.)
NIH-sponsored centers use a slower, more methodical approach to sequencing -- called mapping -- that they hope is more accurate. Their strategy consists of identifying a specific stretch of DNA, reading its sequence of letters and adding that bit of finished sequence to its library of completed work.
Celera plans to make the basic human genome freely available to researchers.
To make money, it will sell drug companies access to more in-depth information, which they could mine for discoveries that could lead to new drugs, therapies and diagnostic tests.
Celera also plans to patent several hundred genes. Some NIH scientists hoped to block the patenting of many genes by private firms such as Celera by placing as many in the public record as possible.
Celera and NIH started to discuss collaborating last year, but talks broke down after they disagreed over how and when to make the pooled information public.
Yesterday, White House and NIH officials said that those talks had resumed, but the two sides may still be far apart.
Eric Lander, who heads the NIH-funded Center for Genome Research at the Whitehead Institute in Cambridge, Mass., said there was less to Celera's announcement than meets the eye.
"A naive listener might get the mistaken impression that Celera was announcing that it had just sequenced the human genome," Lander said. "In fact, it has produced only a small fraction of the data required."
Wire services contributed to this article.