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21st Century Medicine (Scientific American Special Online by Scientific American PDF

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Extra info for 21st Century Medicine (Scientific American Special Online Issue No. 30)

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A survey of the new approaches in development for reading genomes illustrates the potential for breakthroughs that could produce a $20,000 human genome as soon as four years from now— and brings to light some considerations that will arise once it arrives. Reinventing Gene Reading w i t h a n y s e qu e n c i n g m e t h od , the size, structure and function of DNA itself can present obstacles or be turned COPYRIGHT 2006 SCIENTIFIC AMERICAN, INC. J U LY 2 0 0 6 S T U A R T B R A D F O R D ( p r e c e d i n g p a g e s) ; T E R E S E W I N S L O W ( a b o v e) biotechnology, one can begin to imagine what markets, visions, discoveries and inventions may shape its outcome and what critical thresholds in infrastructure and resources will make it possible.

We managed to fi nish the easiest 93 percent a few years early and to leave a legacy of useful technologies and methods. Their ongoing refinement has brought the street price of a human genome sequence accurate enough to be useful down to about $20 million today. Still, that rate means large-scale genetic sequencing is mostly confi ned to dedicated sequencing centers and reserved for big, expensive research projects. The “$1,000 genome” has become shorthand for the promise of DNA-sequencing capability made so affordable that individuals might think the once-in-a-lifetime expenditure to have a full personal genome sequence read to a disk for doctors to reference is worthwhile.

These difficult and important questions need to be researched as rigorously as the technological and biological discovery aspects of human genomics. My colleagues and I have therefore initiated a Personal Genome Project [see box on preceding page] to begin exploring the potential risks and rewards of living in an age of personal genomics. When we invest in stocks or real estate or relationships, we understand that nothing is a sure thing. We think probabilistically about risk versus value and accept that markets, like life, are complex.

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21st Century Medicine (Scientific American Special Online Issue No. 30) by Scientific American


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