Clinical assessment with a personal genome. It has happened.

So this morning I was listening to NPR as I usually do while waking up.  And then I had to actually pay attention.  They were doing personal genomics.  But not just theoretical personal genomics.  They were talking with Steve Quake, who has his personal genome in hand. The story is here: Genomes May One Day Be Medical Crystal Balls

And Steve had his sequence analyzed for medically deleterious mutations.  He took this to an MD friend, and together they went over the data.  It’s a pretty interesting story.  And raises a lot of issues.

Some of the mutations are not actionable. That’s clear–and they say that you need to mentally prepared to look at this data, because some of it is scary and you are helpless.

“You know, the chance of dying is 100 percent, it’s just a question of how and when, right?” Quake says. “I think this sort of points to an interesting thing about personal genomes. You have to have a bit of a strong stomach for it.”

Are people really going to be able to take this not only for themselves, but for their 3 kids?  I can’t imagine that kind of weight multiple times.

Other information may be helpful–seems like Quake will benefit from statins.

But the part I found most intriguing was their assessment of the doctor-patient interaction around the personal genome.  They talk about how if you have 100-120 genes of concern that arise in your sequence, and you want to spend 2-3 minutes talking about each (which seems pretty minimal for non-scientists/non-MDs, I think), that would be 5 hours of genetic counselling.  And who will do that?  And who will pay for that?  And is the public ready for the bad news?

Anyway–this is tied to a paper in The Lancet.  Figure 1 is very cool–it describes the workflow/steps they went through for looking at the mutations.  It included GVS, HGMD, OMIM, PubMed, PolyPhen, SIFT, and more. It’s interesting–I had talked recently about the steps I would take if I had my genome, and I think this is a very nice model for that. (EDIT: by the way, we have tutorials on a number of the tools in Figure 1…)

They talk about PharmGKB. They show Steve’s pedigree, and his clinical assessment. You can look at his mutations. And Figure 3 is his clinical risks of things like Obesity, diabetes, Depression, various cancers, and more.

It’s an important paper in this arena. If you are looking at a personal genome in your future, check it out.  And think about the implications.  I think the conclusions way undersell the look at the future that this provides–but it’s a research paper, I get it.  But this is fascinating to think about.

Ashley, E., Butte, A., Wheeler, M., Chen, R., Klein, T., Dewey, F., Dudley, J., Ormond, K., Pavlovic, A., & Morgan, A. (2010). Clinical assessment incorporating a personal genome The Lancet, 375 (9725), 1525-1535 DOI: 10.1016/S0140-6736(10)60452-7