Quick breakthroughs from human genome project

BETHESDA, Maryland (Reuters) -- Years of work await scientists who are starting to read the "book of life" -- the human genome -- but some surprisingly quick breakthroughs are also being made, the head of the project said Monday.

Because so many scientists are working so hard to make public their findings on human genetic information, a startling number of little changes that make one person different from another -- known as single nucleotide polymorphisms or SNPs -- have been identified.

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Cracking the human genome

At the end of June, the Human Genome Project and Celera Genomics, the Rockville, Maryland-based company that is also working to map the human genome, announced that between them they had finished a rough map of the human genome -- the collection of all our genetic material.

But this simply means that they have the code that makes up the genes. They do not yet know where all the genes are, or even how many genes there are.

"Twenty-five percent of the genome is in finished form," Dr. Francis Collins, head of the National Human Genome Research Institute, which is leading the publicly funded Human Genome Project, told a meeting of the National Advisory Council for Human Genome Research.

"Even with a perfect genome sequence in front of us, we will still be arguing about what a gene is," Collins told the meeting. "Estimating how many genes there are will take time."

But the Human Genome Project plans a joint publication later this year -- probably in December, a spokesperson says -- with Celera. It is not yet clear what information will be in this publication, in part because scientists are slapping their genome information on the Internet almost as soon as they get it.

One issue is Celera's concern about who can republish and sell this information, Collins said.

But the good news is that having this information has helped teams of scientists find many, many different SNPs (pronounced "snips"), he said.

"SNPs have been pouring into the public database," Collins said, adding that more than 800,000 SNPs have been identified. Only 120,000 were available in May, and just a few months ago scientists thought 300,000 was the most they could hope for by now.

Of the 800,000 now found, 300,000 were identified by the private-public SNP Consortium, which has accelerated its program.

The Consortium's members include Britain's Wellcome Trust, a medical research charity, AstraZeneca PLC, Aventis Pharma, Bayer AG, Bristol-Myers Squibb Co., Hoffman-La Roche, Glaxo Wellcome Plc, Novartis Pharmaceuticals, Pfizer Inc., Searle (now part of Pharmacia), and SmithKline Beecham Plc and Motorola Inc., IBM, and Amersham Pharmacia Biotech.

Other members include the Whitehead Institute for Biomedical Research at the Washington University School of Medicine in St. Louis, Missouri, the Wellcome Trust's Sanger Center, Stanford University's Human Genome Center, and the Cold Spring Harbor Laboratory in New York, New York.

Collins said more SNPs are to come.

So far, the consortium has not linked a single SNP with any particular trait. It takes more than one genetic difference to produce cancer, for instance, or blue eyes or dark skin.

But researchers at both universities and at companies such as Glaxo are using SNP information to track down genes associated with diseases ranging from migraine to Alzheimer's.

With this knowledge comes the risk that it will be misused, and Collins said the United States Congress is still split on what legislation will best protect people.

"I think there is a general consensus that something needs to be done to stop employers from using (this information)," Collins said. But he noted that little time remains in this session to pass a law that would stop insurers and employers from using people's genetic make-up against them.

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