• June 28, 2022

30 Years Since the Human Genome Project Began, What’s Next?

You mentioned the places where genomics has already become part of mainstream medical care. What corners do you see being the hardest to reach?

The hardest category is going to be preventing common diseases—hypertension, diabetes, cardiovascular disease, asthma, autism, Alzheimer’s, etc. We’re starting to develop polygenic risk scores for these, but we still don’t know how truly predictive they’re going to be.

So these are a way of adding up all the tiny influences of thousands of minute genetic variations, which you can use to estimate someone’s risk of developing these common diseases.

Right. We have major programs investing in big research studies to take polygenic risk scores out for a test drive—to see how predictive they can be and how health care professionals and patients respond to having that kind of information. Because another big question is whether or not they’ll move the needle. If you’re handed a genetic score that tells you you’re at higher risk for becoming hypertensive, for having an early heart attack, say, will that make you watch your diet and exercise and eat less salt? Your doctor might use that information to get you in for an EKG every year starting at age 35, but will you make the appointment and show up? Because that’s the real test—if genomics can actually change people’s behavior.

What about genomics and infectious disease? I’ve written about big efforts, both here and abroad, to mine genetic data to better understand why the coronavirus causes such a wide range of symptoms in different people. How do you see the field contributing to getting us out of this pandemic?

Those major studies are really illustrative of how there’s rarely a problem in biomedicine these days where genomics isn’t somewhere in there playing a role. And they’re going to be really important for helping decipher the extent to which people’s genetic inheritance contributes to their Covid response.

But I think one of the most important legacies of the Human Genome Project was the way it changed forever the way scientists shared genetic data. If you follow the timeline of this pandemic, the first report of the virus was in late December. Within two weeks of that, the sequence of the virus was released publicly.

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I remember, that was actually the first story I wrote about the coronavirus—about how it was a real win for public health.

Yes! That sequence was instantly used to make tests for the virus. And it was step one for developing the vaccines that are now being shown to be effective. If you go back to the time before the Human Genome Project, that would have been unheard of. The researchers would have sequenced the virus, written up a paper, submitted it for publication, and a few months later, when the paper came out, they would have released the sequence.

That was the way it was done until we came along and argued that it’s better to give people early access to imperfect data than later access to perfect data. Lots of scientists were worried that would undermine their ability to get credit for stuff. So we also had to bring together journal editors and funders to get them to create and enforce a new etiquette. That was important to us because the Human Genome Project wasn’t a traditional science project. We were creating a community resource. So I think genomics deserves a little bit of credit for changing the cultural norms in some of these other fields, like infectious disease. One of its most lasting legacies is the way it really transformed the rules of research.

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