This is not science fiction. Already, in a few early-adopting venues, doctors are having their patients’ entire genomes — all their DNA — sequenced, as part of their care. In the coming months, starting small, a few dozen Boston patients will also enter the futuristic world of genomic medicine.
Last fall, a team based mainly at Brigham & Women’s Hospital won a nearly $10-million grant to determine how whole-genome sequencing can be used in the clinic. I asked Dr. Isaac Kohane, the team’s co-director among other titles, to help us imagine what it will look like in practice when a doctor has a patient’s full set of DNA in hand. He kindly collaborated on the script and voicing of the 5-minute cartoon video above. (Yes, it features real human voices, not those annoying text-to-speech robots!)
If you’re the kind of patient who loves to maximize your self-knowledge, you may be saying, “Where do I sign up?” Sorry. The initial stages of the Brigham’s “MedSeq” project will be largely limited to Brigham and Women’s primary care patients who have a medical condition that could be better understood if their genome is analyzed, said its principal investigator, Dr. Robert Green.
But hang on. As the cost of sequencing plummets and more doctors train up, genomics is clearly coming to the clinic. And if you can’t wait, you can always shell out the cash to have a private company analyze your genome, or you could check into the Personal Genome Project, run by Harvard’s George Church, which aims to sequence 100,000 members of the general public. Dr. Kohane is also involved in The Gene Partnership, which uses patients’ data from both their genes and their environment to explore the root causes of disease, and lets the patients decide whether they want to know about relevant research results.
And now, without further ado, the DNA doctor will see you…
Doctor: So, Jane, why are you here?
Jane: Well, my doctor said that my cholesterol — I think she said NHL cholesterol — you know, that bad cholesterol — is very high for someone in her twenties like me. And she said I might be able to exercise and diet my way out of it but it might be something in my genes. Dr. Nerdbauer, can you help me?
Doctor: Well, Jane, it’s good you came to see me now because just last year, your doctor joined our genomic screening practice. So you actually signed the permission for us to fully sequence your genome.
Jane: I did? Oh!! I seem to remember some lessons about DNA…
Doctor: Here’s the weird part: now that you asked me about your cholesterol level, I looked up the thousand mutations that have been linked to very high cholesterol and i see that you have one of those: You have an LDL receptor mutation that causes your levels to be very high. And there’s no way you could change this through lifestyle alone.
Jane: Phew! I guess I can call off that personal trainer!
Doctor: Well, I don’t know about that. But you definitely need to go on a statin drug to lower your cholesterol so you don’t get early heart disease in your thirties or forties.
Jane: Yay! You just saved me thousands of hours on the elliptical!
Doctor: Not so fast. we did sequence your whole genome and i have some other things to tell you.
Jane: Ullp. Good things or bad things?
Doctor: Both. But don’t worry, the bad things are not that bad.
Jane: Oh, heck, okay, just tell me.
Doctor: Well, you have a few mutations that put you at increased risk of type two diabetes. Together, they probably triple your risk. It’s still a relatively low risk but it does mean that if you don’t watch your weight and exercise, you’re at risk for diabetes.
Jane: Wow. My mom died of diabetes. She was very overweight.
Doctor: Well, that’s the point. You can prevent diabetes if you just make that lifestyle commitment. Also, there are enough of these mutations present that probably your sister is at increased risk as well.
Jane: Uh oh, you mean i have to tell her?
Doctor: Well, you don’t have to but you might want to get her an appointment with that personal trainer as well.
Jane: All right, doctor, what else do you have to tell me?
Doctor: Well, you’re highly protected from common risk factors for Alzheimer’s Disease.
Doctor: And you’re a fast metabolizer of most drugs, so it would be hard for you to overdose but doctors need to take this into account when they dose you to make sure you get enough of a drug.
Jane: Wow. You can tell a lot about me from my genes. How many other things do my genes tell you?
Doctor: A lot, but we don’t know how to understand most of it. You have two to three million gene “variants” that are different than most other people’s. Right now, we only have a good idea of the consequences of maybe fifty to a hundred thousand of them.
Jane: Oh. That’s a little pathetic.
Doctor: Yes. but my commitment to you is that every time scientists figure out a new gene, we go through the genomes of all our patients and decide whether it’s threatening or life-changing enough that they need to know about it.
Jane: So you could keep giving me bad news for years and years to come?
Doctor: Well, er, yes. But some of the news could be good. And if you decide you don’t want us to contact you, you can opt out.
J: No, no, I want to know…I guess…
Doctor: And if you decide to have children, we can look at your genes and your partner’s and tell you quite a bit about what your children could be like, including possibly whether you might want to intervene to avoid serious disease.
Jane: Now that’s good news. Thank you, doctor. Now please excuse me. I need to go call my sister and tell her to get off her butt.