GUEST POST: From Gattaca to Genetics (from Sci Fi to Fellowship) Monday, February 21, 2011

Have you seen the science fiction movie Gattaca? I honestly don’t remember much about it, but there’s this scene where Uma Thurman takes a piece of human tissue (I think it was some hairs of a person she was curious about), sticks it in a little machine, and a few moments later, gets a read-out based on that person’s DNA. It told her things like how likely heart disease was, their expected life span, and so on. Pretty wacky.

The even wackier thing is that we’re pretty much there, at least in terms of getting the info – interpreting it is another ball game. I’m a research geneticist now – I just finished my genetics fellowship at the NIH, after doing pediatrics at Children’s National, and I’m focusing on using genomics to try to figure out what causes certain congenital malformations (birth defects, to be less politically correct). We do something that I, in my incredibly biased opinion, think is amazingly cool. It’s called “whole-exome sequencing,” which means we can look at all the genes at once - in other words, we can see the sequences of every single gene for a person. The exomes, or all the coding regions, is a little more than 1% of the genome, and it’s just amazing. It takes a couple months to get the results back, but it’s ridiculously cheap – costs just a couple of thousand dollars now, and it’s going to get cheaper and cheaper, like CD players and computers. I know that sounds like a lot, but compared to pretty standard tests like an MRI, it’s not much, especially considering how much you get from the test. The thing that boggles my mind is how much we can figure out from it, and how easily. For example, a while back I did whole exomes on a kid who had surgery in the neonatal period because of a congenital malformation. Most kids do pretty well after this surgery, and are ready to go home in a matter of days. This kid did not; he developed severe pulmonary hypertension (very high blood pressure in the lungs), and was in the NICU for months. I’m surprised he made it home.

I had no idea why this happened – to be honest, I wasn’t really thinking about it at all – I was trying to find the cause of the congenital malformation. I’m still working on that part, but one thing that popped up pretty much right away was that he had a genetic change that almost certainly puts babies at high risk of pulmonary hypertension, especially after surgery. Now that we know this, this is something we can check for in his kids (and other future relatives) just in case they need surgery as babies so that they can avoid getting into trouble. The point isn’t to brag at all, though I’m pretty excited about this. The more important things, I think, are two-fold:

1) Our understanding of genetics and health is going to move at an amazing pace now and we’re not that far from things being a lot like Gattaca, at least in terms of possibility. Of course, the ethics of whether that kind of thing should be done is a separate, important, and very messy can of worms. But it’s something we’re going to have think about.

2) All doctors, whether in primary care or specialties, are going to come across this more and more often. I’m pretty confident that it won’t be too many years until “whole-exomes” or even “whole genomes” are done in non-research clinical practice, and it’s going to be a challenge to know how to deal with this flood of new information. A good challenge, I think, but it’s going to be a challenge nonetheless.

ABOUT OUR FIRST GUEST POST CONTRIBUTOR: Ben Solomon, MD, completed a five-year combined pediatrics residency and medical genetics fellowship at Children's National Health System and the National Human Genome Research Institute at the NIH. After graduation, Ben joined the NIH, where he does research on several types of congenital malformations. He splits his time between the clinic, seeing patients with these conditions, and the lab, where he tries to figure out what causes these malformations.

(And you bet I am proud of my former continuity clinic pediatrics resident!)


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