Population Health in the Time of Genomics

What, exactly, is “population health?” It's one of those buzz phrases that no one really knows how to define.  Is it the population of our patients? Is it the population that surrounds us? Who's the population and how do you define health?

For me, population health is taking better care of our patients. But it also means anticipating their medical needs when we can.

Let me tell you how population health is playing out for us at Geisinger.

We're one of the only organizations taking a population-approach to genomics with our MyCode Community Health Initiative. Right now there are definitely some great cancer treatment centers looking at the sub-type of your oncogene and determining medication based on what type of cancer you have. There are definitely tests out there that can look at your genetic profile and determine what medication you should be put on or should be avoided: pharmacogenetics.

Our approach is population genetics.  What we're doing – and saying to our friends and neighbors who are our patients – is, 'Would you allow us to look at your whole genome?' With a 90 percent positive response rate, we’ve already exceeded our 120,000th full genome and we think we'll hit 250,000 pretty soon.

So we have this genetic information, along with clinical information, along with 20 years’ worth of electronic health records data for four generations of families. And we're returning results to our patients – what is now called precision medicine. But I would say precision medicine is taking care of someone who is already sick. To me, what we’re doing is really anticipatory medicine. It's coming up with medically actionable conditions and giving that information back to our patients.

And no one else is doing that.

So maybe we find that you have Lynch Syndrome, which is associated with significantly higher rates of colon cancer. Or maybe it’s familial hypercholesterolemia, the kind of cholesterol problem that means you should be on medication for stroke or heart disease – at age 8. Or you're BRCA positive and you and your family need to make some decisions about what to do right now.  

Let me tell you about one of our patients. She’s 55 years-old and she and her husband take care of their three grandkids. She came back positive for the BRCA gene with no family history of breast cancer. So typically, she wouldn’t have had this type of testing done. She sat down with our genetic counselors and told them, ‘I need to live ten more years because I’m caring for my grandchildren.’ After she opted for preventive surgery, a stage 1 cancer was found in her fallopian tubes which never would have happened without MyCode.

To me, that is population health. We're going to prevent heart disease. I think we can say today that if you're a young woman in central or northeast Pennsylvania, your chances of getting breast cancer are lower than anywhere in the world. Because no one is checking entire populations for BRCA and then acting on it.

Well, almost no one.

Yes, Iceland - which has a similar, stable patient population as ours - is collecting genetic information. But they’re not linked to a health system so they're not getting the feedback to the patients involved.

We are. And by doing so it allows us to treat our patients before they get sick and helps prevent life-threatening diseases before they take hold. It’s changing the course of their lives.

To me, that's population health – anticipatory medicine for our patients.