Interesting personal genomics graphic

So I’ve been looking around at the press coverage of this personal genome diagnosis paper (that I wrote about yesterday).  Much of it is quite similar.  But one of them had a graphic I thought was kinda helpful for people to understand the relative risks of the genetic variations.

Now, I’m not saying the data is right because I didn’t check each one.  But as a way to represent the data I think this was pretty decent.  Check out the Independent article:

Scientist who mapped his own genome given drugs to combat future illnesses (oh, and btw, the author of this piece also did a nice companion piece on other issues around this testing:  Jeremy Laurance: Genetic risk profiling may be harmful if nothing can be done)

and its graphic at the bottom of the page.  I’ll put a part of it here in case it vanishes in the future, but it appears you can download it from Scribd if you have an account.

I think the color-coding, circle sizes, and descriptive text are pretty helpful.  Although I think for reduced risk I might have changed color from red.  But I wouldn’t have used green maybe either, because I don’t think people should be led to believe they are “going” scot-free.  You just can’t say that for many of the things people might be tested for.  Imagine if your BRCA1 test was a nice outcome–no cancer-causing variants.  Might look good on the chart, but as only a small fraction of breast cancer it could be misleading.

EDIT: from another article there’s an interesting comment from Quake:

Quake also cautioned that getting a genome sequence isn’t for everyone. “All you hear about when they talk about your genome is ways you’re going to die and get sick. It doesn’t tell you you’re going to be happy or a great athlete,” he said. “If you’re a worrier, this is not for you.”

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  1. Pingback: Tip of the Week: WAVe, Web Analysis of the Variome | The OpenHelix Blog

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