As a participant in and board member of the Personal Genome Project, John Halamka was the second person to have his genome sequenced and made public. He is the chief information officer of both Harvard Medical School and Beth Israel Deaconess Medical Center, where he is also an emergency physician. In addition, Halamka oversees the exchange of clinical and administrative data for Massachusetts and serves as chair of the U.S. Healthcare Information Technology Standards Panel.
Why take your DNA public?
Because if you’re going to ask what the social, legal, and practical implications of sharing the genome are, somebody has to do it and see what happens. I’m a strong believer that, in the soon-to-be-under-$1,000-per-genome era, we should sequence people at birth and make that data available to help them plan their health care. We already do dozens of newborn screening tests. Why not this?
I carry a mutation for severe combined immunodeficiency, the boy-in-the-bubble syndrome. So it would be a concern if my daughter were to have a child with someone who also has a family history of that mutation. Otherwise, I’m more susceptible to tuberculosis than the average person. And I’m twice as likely as the average man to develop prostate cancer.
How has this affected your care?
The genome is about probabilities; it’s not deterministic. So if I see my PSA go from 0.4 to 2.0, instead of saying, “Oh, that’s still in the natural range,” I’ll say, “Boy, we’d better look at that.” My genome helps me think about lifestyle and preventive medicine choices, then have discussions with my family about health risks. It’s been empowering.
After I became a chief information officer at 34, I felt a lot of stress and didn’t follow a good diet or exercise regimen. My doctor was ready to put me on Lipitor, beta blockers, you name it. I’ve since become vegan and shed 70 pounds. What if my genome had revealed to me, at the age of 18, that I was likely to gain weight, develop heart disease, and be at increased risk for a stroke? Maybe I’d have said, “Hmm. If offered broccoli or a T-bone, I’ll choose broccoli.”
What else might you learn?
We don’t yet know much about how individual mutations actually affect health—by resulting in proteins folding in a unique way, say, and leading to dysfunction. That science is evolving. The real challenge is in relating a given mutation to a disease state or probability. How do I translate a given base-pair change to a change in the architecture of a protein or to the cause of a disease? That’s really hard. How do you turn genomic data into information, knowledge, and wisdom?
The genetic counselors told me, “Here are the implications of what we found in your genome based on the current scientific literature.” That will change. A website now exists that allows me to map my data against the latest literature, or what the Personal Genome Project folks have entered into the database as characteristics that might lead to disease. But it’s not as if I get monthly emails.
Isn’t the Personal Genome Project a family affair?
I have no brothers or sisters. My wife’s an only child. So is my daughter. But I do have cousins. I made sure they were all aware of my decision to participate, because my genome could have implications for them.
What about privacy?
In 2005, as part of the Personal Genome Project, I released my genome to the Massachusetts biotech community with my employer and my insurer by my side, pledging publicly not to drop me, no matter the findings. I’m not suggesting that we all share data quite so openly. If your medical record is as boring as mine, the risks of full disclosure are minimal. But what if you had a family history of mental illness, or something else that might diminish your status in the community?
You could get really farfetched. Imagine it’s 20 years from now. You walk into a bar where there’s a series of USB ports. You plug in a flash drive with your genome on it, and a program highlights all the potential mates you shouldn’t approach because if you had kids together, the result would be bad. “Don’t chat her up. Multiple recessive genes!”
We need to stratify medical records so that you consent to what gets released—and to what purpose. That technology doesn’t exist, but we’re working on it, along with policies to give consumers greater control.
You have five jobs. What’s your goal?
What I care about is the ability to make a difference. I can’t think of any institution that has as much technology—and as great an ability to be at the cutting edge—as Harvard. The grass ain’t greener anywhere else.