The race to find the Holy Grail of human medicine -- mapping all 3 billion chemical bits of DNA that make up the code for human life --is nearing the finish line.
A Human Genome Project researcher working in a lab in England told the BBC Wednesday that the federally funded program to map the genome would announce a completed working draft by June 15. But apparently he misspoke, and HGP researchers said they do not, in fact, have an exact date.
"I made a blunder," said Ewan Birney, a team leader at the European Bioinformatics Institute. "But we are on track for mid-June and it's gob-smacking that we hit the target that we made for ourselves."
Other genome centers confirmed that mid-June is still the approximate target date, but no one can get more specific just yet.
"We'll have a working draft, or 90 percent of the sequence will be done and aligned on the chromosomes by mid-June," said Linda Sage, a spokeswoman for the gene sequencing center at Washington University in St. Louis, one of five major labs that contributes to the HGP .
Researchers can't predict a specific date, Sage said, because completion depends on when the sequencing machines get to that point. All five major sites need to determine that they're finished, and coordinate a joint announcement.
HGP researchers have been locked in an ongoing race with Celera Genomics, which announced last year that it would map the entire human genome in less than a year and for a fraction of the cost of the 10-year, $2 billion HGP public project.
In April, Celera scientists announced they had completed the sequencing phase of the genome map. The company is now working to assemble the gene map to create a working draft. Celera officials also said they expect to make an announcement in mid-June, but also declined to commit to a specific date.
"I can say for certain it will be earlier than June 30," said Heather Kowalski, a spokeswoman for Celera.
"We were surprised to see a specific date like that," Kowalski said, regarding the BBC story about HGP.
Celera and its chief scientific officer, Craig Venter, have been somewhat vilified for wanting to make money from the human genome, but Venter defends himself, saying that a competitive environment is the only way to insure rapid scientific advancement.
Venter came up with the so-called "shotgun" method to chop an organism's genetic information into small bits that could be analyzed in DNA sequencers. Scientists then use powerful computers to reassemble the bits into a whole.
Researchers were skeptical that Venter could successfully use this technique on the human genome, since he had only succeeded in sequencing less-complicated genomes, such as those found in germs.
But he used it successfully on the fruit fly genome, which has many similarities to humans. The project caused some naysayers change their minds about the shotgun technique.
The HGP researchers use a technique that breaks up the genetic code into bits, but keeps the bits in line with the chromosome with which they're associated. The HGP researchers say it's a more complete and less-risky method.
Another source of contention between the two groups of researchers is the fact that the HGP enters its data into a public database every 24 hours in a database.
Celera, on the other hand, is keeping its data private until it publishes its findings in a scientific journal, probably in August or September.
Observers said it matters less who is the first to map the human genome, and more that the results will benefit humankind in the long run. The road map to the human genes it produces will be the guide that helps scientists understand and cure various human diseases.
"I think that the public will actually be the winner at the end of this race because it has caused all of the researchers to work harder, and brought companies like ours results to work with sooner rather than later," said John Couch, CEO of DoubleTwist, which just announced it used the HGP's public data to create a rough draft of its own annotated map of 105,000 genes.
Annotation is the step after creating the human genome map that will allow scientists to correlate specific human functions to particular genes.
"The completion of this race ... is just a starting point for a much bigger quest -- identifying what all of various genes in the genome mean for our health and well-being," Couch said.
