Precision Medicine is ‘Happening Now.' It’s Saving Money and Human Suffering


Tools of modern genomics and genetics, what's come out of the Genome Project, are beginning to make it possible for us to be more individualized in the way in which we approach both the diagnosis of disease and the treatment of disease.

What we're doing is going into your DNA, capturing those areas that are important for drug response, sequencing them and having that information in your electronic health record.

We need to do that for every drug so that the physicians will and the pharmacist, when they fill the prescription, will feel comfortable that they really have, to the extent possible, tailored the medication to the patient and to the patient's genome, to their DNA.

If I'd have said that 10 years ago, people would have said, "You're out of your mind." No, no, it's happening right now.

Pharmacogenomics is just the part of precision medicine that's focused on trying to select the right drug for you at the right dose. Our drugs work. There's a reason why we use them. They work, but they don't work for everyone. And if it's my wife with breast cancer or my daughter with breast cancer, I want her to have the best possible chance to be treated for her unique disease.

There's a drug called Abacivar, which is used to treat HIV infections, where we know a certain percentage of the population has a genetic variant. So they'll develop an allergic reaction which can be very serious. We're doing that test routinely on all of these patients before we prescribe the drug.

We know that when a patient goes into a coronary cath lab and has a stent put in because they have an occlusion in one of their coronary arteries, we don't want to have a clot form in there. Certainly, I wouldn't want that if I were that patient, and we give a drug that prevents the blood platelets from forming a clot. But we know that about 20% of European patients have genetic variations, so they can't make Clopidogrel, which is the drug that is used to prevent the platelets from forming clots, from being active. We'd want to use a different drug.

So I could go down a long list. This is the kind of boring stuff I teach to medical students. But as a matter of fact, there's an example from virtually every aspect of medicine.

So that information we know already has clinical utility. The Food and Drug Administration says that, not me. They've looked at the evidence. So I think we have a lot of examples of that sort that begin to give us a hint of where we're going to go, which is an increasing amount of information like this, much more than any physician can ever remember.

My daughter, the pediatrician, said, "Dad, don't tell me the genomics. Tell me raise the dose, lower the dose, or change the drug." We need to do that for every drug so that the physicians will and the pharmacists, when they fill the prescription, will feel comfortable that they really have, to the extent possible, tailored the medication to the patient and to the patient's genome, to their DNA.

Right now this seems somewhat esoteric to some of the insurers. But the fact of the matter is whenever it has been tested, it's found that having this kind of information available immediately to the physician is cost savings in the long run.

Unfortunately, depression is a very common disease. Something like 15% of the population is going to have depression some time during their life, and the major kind of drug that's used to treat this disorder is the selective serotonin reuptake inhibitors or SSRIs. But the body metabolizes those, gets rid of them differently. Some people, a standard dose would overdose them. Some patients, a standard dose wouldn't be enough, and when that happens, the patient says, "Eh, the drug's not working," or "It's making me feel awful," stops taking the drug, and what happens, they end up back in the hospital.

So when we test it, just giving the doctor this information at the front end, we find that re-hospitalizations decrease by 50% in the first year, and that the average savings is from $3,000 to $5,000 per patient.

So I think we need to develop information that will make the case that this is a scientific advancement that actually can save us money in the long run and can certainly save on human suffering.

This technology, the technology of DNA sequencing is going to cause seismic shifts in medicine, and we'll have to adapt to those. What we find though is that very often the patients are already ahead of the medical establishment. Because of the Internet, they can go out and find things about themselves and about their disease, and they will know it in-depth because it's up close and personal with them.

It's an exciting, wonderful time, but we have to be careful, and we have to do this in such a way that we protect the confidentiality and the privacy of the patients who are involved. And there's some interesting and challenging ethical issues we have to deal with.

Having said that, what precision medicine will do is it offers the promise of helping us to move to the point that we can anticipate disease, that we can begin to prevent disease, and that we can intelligently treat disease on an individualized way, in a precise way.

The technology has advanced to the point that it's now possible for me to say for $300 we can capture a million base pairs and sequence them. Even a few years ago that would have been an impossible dream. Technology has moved forward. There are a lot of people all over the world working very hard to find out what is of value of this right now, and that will change as time passes and as the costs come down, that we can use to benefit human health. I think we have an obligation then to begin to use it for exactly that purpose.