A Rare Scientific Diversion

I don't write that many science-y posts here, mostly because I'm too lazy to do a good job of them. But I came across some interesting things recently, and rather than save them for the Weekend Reading post, I thought I'd go ahead and post them now.

We've all heard a lot about personalized medicine. OK, maybe you haven't and it is just those of us  working in drug discovery who keep hearing how whole genome sequencing is going to transform medicine and our industry along with it. After a few years in the drug discovery industry, you've heard how technology X is going to change everything so many times that you get a bit cynical. But the decreasing cost of whole genome sequencing does seem to be making an impact- it is just not clear what that impact will ultimately be.

Two of the science blogs I follow, Omics! Omics! and In the Pipeline both had recent posts about the sequencing of the genomes of tumors. I find it interesting that they come to very different conclusions. Keith Robison at Omics! Omics! sees progress and the chance to start matching (already marketed) drugs that inhibit specific enzyme. Derek Lowe at In the Pipeline sees a mess of different mutations in a population of tumors that were originally thought to be quite similar and wonders if we'll need to go back to the toxic wrecking ball approach to make any progress. These are both drug discovery veterans who know a lot about what it takes to make a drug, so it is interesting to read their different viewpoints. Which one is right? Heck if I know. I think that only time will tell.

But I also came across a story of a much more immediate impact from whole genome sequencing, albeit on a very small scale. The scale of one small boy who had a baffling and life-threatening disease. I read about it in an article focused on the science/IT aspects of the story, but that links to the newspaper series with the focus more on the little boy. It is an amazing story. I don't think it is an exaggeration to say that whole genome sequencing probably saved that little boy's life.

Reading about that family's ordeals certainly puts our worries with Petunia in perspective. But, it is still highly likely that she will wake up in an hour or so and not want to go back to sleep... so I guess I should head to bed.