The advent of the polymerase chain reaction large

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Unformatted text preview: p r o g r e s s w ill b e m a x i m i z e d b y e a rl y, o p e n a n d c o n ti n u i n g a c c e s s t o larg e d a t a s e ts. © 2003 Nature Publishing Group Quantum leaps It is interesting to speculate about potential revolutionary technical developments that might enhance research and clinical applications in a fashion that would rewrite entire approaches to biomedicine. The advent of the polymerase chain reaction, large-insert cloning systems and methods for low-cost, high-throughput DNA sequencing are examples of such advances that have already occurred. During the course of the NHGRI’s planning discussions, other ideas were raised about analogous ‘technological leaps’ that seem so far off as to be almost fictional but which, if they could be achieved, would revolutionize biomedical research and clinical practice. The following is not intended to be an exhaustive list, but to provoke creative dreaming: ◆ the ability to determine a genotype at very low cost, allowing an association study in which 2,000 individuals could be screened with about 400,000 genetic markers for $10,000 or less; ◆ the ability to sequence DNA at costs that are lower by four to five orders of magnitude than the current cost, allowing a human geno...
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