Skip to Main Content

LOS ANGELES — If 7-year-old Francis Collins had his way, we might never have seen the Human Genome Project. (We’d have a pretty savvy truck driver, however).

The 68-year-old physician-geneticist has led the National Institutes of Health for nine years, with zero plans of slowing. The organization is on the verge of launching a massive endeavor — the “All of Us” effort to sequence the genomes of 1 million Americans from all walks of life.

STAT sat down for a chat with the ever-avuncular Collins at this week’s Milken Institute Conference in Los Angeles — a Davos-like confab stacked with Wall Street glitterati, Hollywood change agents, industry titans, and academics.


Here’s what he had to say:

If you could change one thing about science, what would it be?

I’d focus particularly on how we can recruit the best and brightest for the next generation: I fear the way most kids get exposed to science doesn’t make it all that exciting. Our teaching is about memorizing things, as opposed to understanding it as a detective story. That may be depriving us of some remarkable visionaries of the future: Science is not presented in a way to make it sound like a life’s calling.


If you hadn’t become a scientist, what would you be doing now?

When I was 7, I wanted to be a truck driver. When I was 13, I wanted to be a musician. When I was 14, I got introduced to science. It was a remarkable high school chemistry class, taught by a very gifted teacher. Chemistry drew me in: I stayed away from biology. It seemed much too messy. I liked the simplicity of chemistry and physics, where everything is mathematical: Only later, in grad school, did I have a complete turnaround.

What do you wish the public understood better about science?

I think that science is a reliable way to find out the objective truth about how the universe is put together. When you’re trying to solve a problem — whether it’s to find a cure for cancer, or understanding what’s happened to the climate — science is the best way to find out what we’ve got.

But we seem like we haven’t done a very good job of conveying that aspect of science to the public: It seems as though people are quick to muddle up what’s a fact and what’s an opinion. Science is about facts.

What do policymakers need to understand better about science?

I wish policymakers had a deeper background in understanding the details of science — especially things they’re asked to make judgments about. I think most policymakers would agree: They’re increasingly being called upon to make decisions where science is critical.

NIH has benefited from the fact that biomedicine is continuing to be nonpartisan, where virtually all of those who look closely can see what a fantastic return one gets. I found it to be a pretty positive atmosphere within the administration and Congress: We have broad, nonpolitical support. And seeing the substantial increase in NIH financial support over the past three years has been truly gratifying.

What aspect of health care or science do you find most frustrating?

Electronic health records. I thought by now we’d be in a circumstance where those would be interoperable and portable, so patients would have easy access to their own records. That’s still been very frustrating.

Companies and academics still often guard their data closely. Do you think more players will be interested in open sourcing data?

I think maybe the Human Genome Project can take some credit for starting this attitude — we were releasing data every 24 hours, as it was generated, and not waiting for it to be formally published. That’s become the norm for many of these large-scale projects, whether it’s the microbiome, or the knockout mouse project, or the cancer genome atlas.

I think the pre-competitive space has actually embraced that same approach. NIH is now working with industry in Alzheimer’s disease, Parkinson’s, cancers, immunotherapy, diabetes, rheumatoid arthritis … they make data accessible, not just to the people doing the work, but to anybody else. With the 21st Century Cures Act, they gave me as NIH director more authority than before to require that from our grantees. I had to previously cajole them.

There will always be resistant quarters: People who want to be buried with their data. Academics do need to get credit for their work, and there are ways to do that without hoarding data for years.

What technology has you most fired up?

I’m very excited about the potential of gene-editing to cure rare diseases for which we know the molecular defect and there’s no current therapy. CRISPR-Cas9 has made it possible not just to dream about such protocols, but actually design them. I think this will be the year where we will see the first clinical trials to cure sickle cell disease using CRISPR-Cas9. All the pieces are there to see that happen — and sickle cell disease has waited a long time. This could be the first molecular cure, and there’s something intensely satisfying about that. On top of that, there are thousands of other genetic disorders that are desperate for hope of a solution.

Do you think gene-editing could be used in diseases caused by multiple genes?

There are more than 100 gene variants linked to increased risk of type 2 diabetes, for instance. Each one of those has a tiny effect. But we might be able to treat the condition by using gene-editing to target a short list of those — finding the ones that are most consequential in causing diabetes. But I think we need to do more work in understanding the pathways, and find new small molecules, as opposed to gene edits.

You must be excited about this ‘All of Us’ project launching.

Yes, it’s an opportunity to follow 1 million people — which is something we’ve never been even able to imagine. We’ll gather blood samples that will be used for whole genome sequencing, get information about their diet, lifestyle, exercise, and take information from wearable sensors — as well as have access to EHR data. The data, of course, will be stripped of individual identifiers to protect privacy. We’ve been running a data test for 11 months, and have already signed up more than 40,000 volunteers. That’s pretty good, I’d say.

Any post-NIH plans?

I have no idea. I thought I’d be leaving the NIH a little more than a year ago, because the NIH directorship typically changes when the presidency changes — but President Trump asked me to stay on. But if I had left, I’d probably go back to running my lab full time; think deep thoughts.

  • we should be asking the question what is causing the gene mutations.
    Do we believe that everyone of the gene mutations in T2d cause the same disease?
    We are finding more gene mutations in people with ALS do we think all the gene mutations cause the same disease?

Comments are closed.