Why? Theories abound, but the new breakthroughs in genome research are delivering fascinating answers: Genetic mutations in a person's body, it is now clear, are key. If you're a diabetic and you have a particular kind of gene, or a mutation of another kind of gene, your body won't respond to Medicine A. It will respond to Medicine B. Or to a medicine yet to be developed. And it might be that a low-fat diet won't help you at all but it will do wonders for the diabetic next-door. Your genes will guide you, Collins said.
"Because what the study of the genome does, is it allows you to shine a bright light into why disease comes about," he said. "We've been sort of skirting around the edges of this but there's been a lot of fog in our understanding of the causes of illness. If you can understand it at the DNA level, you've really understood it." And that, he said, means real change.
"That gives you a chance to develop treatments for cancer or heart disease or diabetes which are not treating some secondary problem. They're going right to the heart of the matter."
It means that what's coming in medicine is custom medicine. At some point — and it could be 10 years or 15 years, but most agree it will likely be within 20 years — you will go into your doctor's office and, from a swab of your cheek, your doctor will get a readout of your entire genome. That doesn't happen now. Well, technically, it could. It would cost you about $300,000. But the NIH's Collins said that won't be a factor for long; the cost is plummeting by the month. "In another seven or eight years, it'll be down to a thousand dollars," he said.
And insurance might cover it. That's because from that genetic data, it is very likely that better, safer and potentially less expensive medical decisions can be made: how to keep your particular cancer in your own body from growing. How to find the precise blood pressure medicine that will work for you, so that you don't have to try six different prescriptions before you find the one that works. Or what lifestyle changes could actually help you and not just make you feel like you're giving up things you love for no good reason.
"In ten or fifteen years most visits to physicians will have a significantly different flavor because of the ability to incorporate this information about our own DNA instruction book," Collins said. "This is profound."
That genome printout might also save your life. Already, science is capable of identifying a relatively few single genes known to cause very specific diseases: Huntington's disease, for instance. We also know that children born with a certain kind of gene can develop life-threatening metabolic disorders, for which treatments are already available. More and more, babies are already screened for that specific kind of gene.