Last Updated Apr 6, 2010 11:07 AM EDT
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.I'm a believer that the genetics business will learn to walk -- and eventually run -- within the next five years, but I also agree with New York Times reporter Andrew Pollack's assessment that the first generation of companies like DeCode and 23andMe are not where the business will find its sweet spot. However, I don't agree with the naysayers who argue that consumers will never fully get on board with personal genome mapping because it's not good for our collective psyche to open a genetic Pandora's box. A few weeks ago, Camilla Long made that argument on her blog in The London Times:
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.I actually believe that it's going to be vital to our collective psyches (and businesses) to open Pandora's box -- even if genes are not destiny. Last week, I met with Jorge Conde, the CEO of Knome, one of the companies that is mapping full genomes, who told me: "There are so many things that we can change, but we can't change our genes (yet), so knowing our genes will empower us with the ability to make new decisions in the areas that we can change."
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.The other key challenge is working out the issues around genetic intellectual property, which blew up last week after a court ruling that the patents on the breast cancer genes BRACA1 and BRACA2 are invalid. Some argue that the inability to patent a gene will impede business , but I believe this is good news because it will encourage new competition. Since business challenges are now the main focus of the genomics industry, the signs are good that it is just beginning to hit its stride.
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