The Times on the human genome at 10

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Two articles in the New York Times this week revisit the promises made 10 years ago about how the sequencing of the human genome would revolutionize medicine (and how, obviously, it has not). There are things to quibble about–I could go on again about how some of the arguments against genome-wide association studies are silly, but hey, if silly arguments get published by prestigious people in prestigious journals, then I can hardly fault the Times for repeating them–but by and large the articles are spot on. The sequencing of the human genome has absolutely revolutionized biology, but that fact has had little impact on medicine to date.

There are reasons for optimism though. The most important reason is a bit of historical perspective–the road from identifying a gene involved in a disease to a treatment for that disease is…rocky, to say the least. The genetic cause of a particular type of cancer (CML) was discovered in 1960, but a treatment was approved by the FDA in 2001. For those keeping track, that’s 41 years. The gene for cystic fibrosis was discovered in 1988; drugs for that disease are finally in clinical trials now (and so will take at least 22 years to hit the market). Most drugs take well more than a decade to go through the regulatory pipeline. So even if associations between genes and common diseases had been discovered the day the genome was published (obviously, it took half a decade to even get those associations), the drugs inspired by those findings would still not be out. This quote is particularly relevant:

“I don’t think any of us in the business believed it would be a cornucopia,” said Frank L. Douglas, the former head of research and development at the drug company Aventis. “What we did believe, however, was that it would get easier. We forgot our history.”

And once again, life imitates The Onion.


  1. life imitates The Onion.

    LOL’s are often inane with no value-add, but really, thanks for the link….

  2. that one’s a classic :)

  3. “I don’t think any of us in the business believed it would be a cornucopia,” said Frank L. Douglas, the former head of research and development at the drug company Aventis.

    Seems like a case of victors writing the history. It is now convenient to forget that back in the late 1980s there was sizable and vocal opposition to the HGP. That opposition said exactly this: we wouldn’t know how to extract much of a useful information from the raw sequences. To counter sceptics, HGP’s proponents hyped the project beyond any belief and promised things they never believed would become reality.

    One clear positive role of HGP was that it ended up being a huge catalyst for the development of all kind of high throughput technologies that are now becoming common. Still, one wonders if that was inevitable anyway and if all of it could have been achieved much cheaper, without spending massive amount of money to just say “we did it”.

  4. I think everyone is now realizing just how big an obstacle the FDA is going to present for sequencing.

    Tabarrok has put together a huge review of the literature at Drug delays cause about 1000X more deaths than bad drugs.

    What is happening now (and being documented on among other places) is that the FDA is going to start jailing and fining you if you invent a sequencing machine but don’t spend five years getting it through premarket review. Situation is even worse for any software that operates on a genome sequence, even if all it is doing is looking up rs numbers.

    Wish this was a joke.

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