February 17, 2001

Book of Life or Signpost to a New Biology?
Mapping the human genome brings surprises and new challenges

by Liza Gross

It’s no secret that the dynamic duo of genomic research--J. Craig Venter of Celera Genomics and Francis Collins of the National Institutes of Health--have had their share of disputes. But none of that rivalry was in evidence when they met the press at AAAS this afternoon to celebrate their publication, in separate magazines, of the human genome. Venter joked that a truck carrying the new issue of Science --which contains the Celera report of the genome--was hijacked, only to be found in Sacramento, where the hijackers planned to burn them to ease the power shortage that’s plaguing California. Collins countered, “I thought that’s what happened to Nature, ” where his consortium’s paper was published.

Such good-natured ribbing suggests the drama that has characterized this highly competitive race has receded with the exhilaration of the results--at least for now. Both teams won, and both men spoke enthusiastically about completing the human genome sequence, and the prospects that lay before them.

Collins hailed the collaborative nature of the publicly funded NIH venture, which relied on the efforts of more than a thousand scientists around the world to generate its draft and analysis of the human genome. The papers published by both the NIH and Celera teams, Collins said, showed remarkably similar conclusions, “representing a validation of results of one group by the other.”

Calling this achievement the “most exhilarating moment” of his scientific career, Collins invited the capacity crowd to his evening lecture on the “Top Ten Messages from the Genome, à la David Letterman.” Unlike Letterman, however, Collins gave away the punchline: collective surprise at how few genes humans have; at how our genes are more complicated than most researchers had imagined; how some genes come from bacteria, crossing barriers researchers didn’t expect could be transversed; and how much of what is called “junk DNA” doesn’t seem to be junk after all.

What they discovered, Collins said, is that what has become known as the “book of life” is really three books: a history book, filled with pages of the fossil record written in our DNA code; a parts manual pointing to the genes and proteins that create a human being; and a medical text that points to risk and disease, albeit, Collins conceded, in a “language that we don’t entirely know how to read yet.”

Venter took issue with Collins’ characterization of the genome. “I don’t view this as the book of life,” he said. “And this is not the blueprint for humanity. This is a basic set of information that codes for our proteins.” You won’t find the instructions for building the heart or building the brain, Venter explained, because this information comes in several different layers.

But both men agreed their results should dissuade persistent advocates of genetic determinism. Knowing a person’s genetic code does not tell you who a person is, Venter said, referring to suggestions that human beings are the inescapable product of their genetic parts. “So many thought that there would be a gene in the genome for each of our traits,” he added, “but it’s clearly not the case.” The simple amount of DNA in our genome reveals little about the complex machinery involved in what it codes for and what makes a human a human, Venter pointed out. “We’re not important as a species because we have three billion letters--corn has three billion letters.”

And both men bristle at the notion that we’re now entering the postgenomic era. “That’s one of my pet peeves,” said Collins. “We’re just starting the genomic era.” Now that we have the tools, there’s no end to what we might learn about biology. “From genome after genome after genome, every one of those base pairs will tell us something.”

Comparing the unveiling of the human genome--with its damning implications for the one-gene-one-trait theory--to Galileo’s revelation that the earth is not the center of the universe, Venter said sequencing the human genome is just the beginning of greater breakthroughs to come.

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