Genomics Turns Ten: An Industry Progress Report

The Human Genome Project turns ten this year. On June 26th, 2000, Craig Venter and Francis Collins stood in the same room of The White House where Lewis and Clark unfolded their map of the North West territories to Thomas Jefferson and unveiled the map of the first human genome to Bill Clinton. It's amazing to think that the initial project cost $3 billion and took thirteen years, but now numerous companies are working on getting the price down to $1000 and the time frame cut to less than a week.

This month's issue of the journal Nature marks the tenth birthday of that project with a special issue. In an opinion piece, Francis Collins, the director of the NIH, answers the question "Has the revolution arrived?" and proposes five major lessens that can be taken from the first decade. He writes:

Some major advances have indeed been made: powerful new drugs have been developed for some cancers; genetic tests can predict whether people with breast cancer need chemotherapy; the major risk factors for macular degeneration have been identified; and drug response can be predicted accurately for more than a dozen drugs. But it is fair to say that the Human Genome Project has not yet directly affected the health care of most individuals.

Even if the tests were more accurate and reliable, what about the pieces to be picked up when the results come in? The cost to our collective mental health is incalculable. And who - in their right mind - would want to know? I wouldn't. I'm already aware I'm at risk; that's enough. I certainly wouldn't want to know for sure that I was doomed -- weird, that -- just as I wouldn't want my children to worry about it, either.

The impact on one's life of that kind of Damoclean diagnosis is almost impossible to imagine. Fine, it may encourage you to have more fun in the short term, to buy that speedboat or get wasted more often, live every day as if it was your last because it is. But I'm sure the novelty would soon wear off.

Now that there is a general consensus that full genome mapping is the best route to these new decisions, the main challenges ahead are still lowering the price, and as Craig Ventor explains in another opinion piece in Nature, improving the quality of the data:

Improving data quality is crucial, because if a human genome cannot be independently assembled then the sequence data cannot be sorted into the two sets of parental chromosomes, or haplotypes. This process - haplotype phasing - will become one of the most useful tools in genomic medicine. Establishing the complete set of genetic information that we received from each parent is crucial to understanding the links between heritability, gene function, regulatory sequences and our predisposition to disease. Fortunately there are some exciting developments on the way that could help, such as new methods from Pacific Biosciences in Menlo Park, California, and Life Technologies that can produce sequence information from a single DNA strand. This approach promises sequence reads, in the range of thousands of base pairs, that will result in substantially higher-quality genome sequence data.

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