Genome Seen As Medical Crystal Ball Stanford scientist Steve Quake was only the fifth person in the world to have his entire genome spelled out. Now he claims to be the first to use it to find out just what diseases he's at risk for and what he should do about it. What Quake and his doctor learned provides a glimpse into the future of genomic medicine — and its challenges.
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Genome Seen As Medical Crystal Ball

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Genome Seen As Medical Crystal Ball

Genome Seen As Medical Crystal Ball

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NPR's Richard Knox reports.

RICHARD KNOX: After Quake published his entire genome, he got an email. A colleague at Harvard told him he was writing a program that pulls together everything that's known about which genetic mutations are linked to what diseases.

STEVE QUAKE: And he offered to run it on mine, and he did. And it was, sort of, those results I was starting to comb over when some of these rare mutations related to heart diseases started cropping up and that's when I called Euan.

KNOX: Euan is Euan Ashley, a Stanford cardiologist who has an interest in the genetics of heart disease. The timing was good. Ashley's group had been thinking about what they would do if a patient walked in with a lab report detailing his entire genome.

EUAN ASHLEY: It's going to happen sooner or later. We felt that somebody should take a crack at it and probably that should be us.

KNOX: They write about in the journal The Lancet. I got the two of them together to talk about how it went. Ashley said he was struck, right away, when he learned that a first cousin once removed of Quake's had died mysteriously at the age of 19.

ASHLEY: Clearly, an important part of Steve's family history is early sudden death. It was unexplained. And so we were interested in looking at his genome to see if there were any clues.

KNOX: And voila, there were.

ASHLEY: We did find mutations in genes that are associated with conditions that can cause sudden death and we talked to him about those.

KNOX: Steve Quake has staked his career on making just this kind of information easy to get. But he says it's a different thing when it's about yourself.

QUAKE: Well, you know, the chance of dying is 100 percent. It's just a question of how and when, right? And, you know, I think this sort of points to an interesting thing about personal genomes is, you have to have a bit of a strong stomach for it.

KNOX: But sometimes your genes yield up information you can do something about. For example, Quake has a higher genetic risk of getting clogged coronary arteries, but he also has a gene that means he'd be especially helped by cholesterol- lowering drugs called statins.

ASHLEY: He has variants that suggest he would be likely to have benefit from this medication, and that he would be less likely than other patients to have adverse effects from the medication.

QUAKE: Yes, I'd very much like to hear the benefits. 'Cause, point of fact, I have not started on the statins yet. I'm still thinking about it.

KNOX: Another case-in-point: Quake carries a mutation that gives him extra protection against a heart attack if he takes a baby aspirin every day.

ASHLEY: And so that's something else we talked with him about.

KNOX: Are you taking aspirin now?

QUAKE: I'll go home and buy a bottle tonight.

KNOX: I'm glad we're having this conversation.


KNOX: Ethicist Hank Greely of Stanford says Quake's experience raises a lot of issues about the future of this new personalized medicine.

HANK GREELY: We were floored, I think, as we began to think seriously about how complicated it's going to be.

KNOX: For one thing, everybody carries dozens of gene variants linked with diseases, to one degree or another.

GREELY: A hundred, 120 different genetic risks that one would like to talk about with Steve or with a patient. I started multiplying that by two or three minutes per risk, and ended up looking at five hours of genetic counseling. Who's going to do that? Who's going to listen to it? Who's going to understand it and who's going to pay for it?

KNOX: Richard Knox, NPR News.

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