The devil is in the detail: a circular computer “scanner” reads sections of DNA at the California Institute of Technology

Ten years ago, the first draft of the sequence of the human genome was heralded as the dawn of a new era of genetic medicine. According to Francis Collins, leader of the International Human Genome Sequencing Consortium (IHGSC) and now head of the US National Institutes of Health, the knowledge gained by the sequencing effort would eventually allow doctors to tailor cures to a patient’s individual genetic profile—a vision he suggested could become reality by 2010.

You might have noticed that it hasn’t. The medical impact of the human genome project (HGP) has so far been negligible. Collins’s claim in 2001 that “new gene-based ‘designer drugs’ will be introduced to the market for diabetes mellitus, hypertension, mental illness and many other conditions” no longer seems an inevitable result of decoding all the 21,000 or so human genes. So were we misled?

Not exactly. But the distance between promises and achievements reflects the fact that the HGP was, like the moon landings, a triumph of technological capability rather than scientific understanding.

It is normal for promises of scientific advances to be slow to deliver. And there’s no question that knowing the sequence of all 3bn of the basic building blocks of our DNA will aid research into human origins and evolution, demographics and disease. One of the technological spin-offs of the HGP is a vast improvement in sequencing techniques, which brought the project to a conclusion sooner (and at lower cost) than expected. This was partly due to the galvanising force of competition between the publicly-funded IHGSC project, and a private effort to sequence the genome by the US company Celera Genomics, led by the entrepreneur Craig Venter. Although we should be wary of emulating one of the justifications offered for human space flight—that it helps us learn about the effects of putting people in space—these techniques have put affordable personal genome sequencing on the horizon, and are contributing to an explosion in genomic data throughout the biological world.

But why haven’t these data been translated into new medicines, the real selling point of the HGP? Partly because shifting from knowledge of a disease-linked gene to a viable therapy has proved immensely challenging, even for a disease such as cystic fibrosis that is caused by a single faulty gene.…

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