Feb 19, 2016


Dr. Jones: One of the big upcoming topics in health care is called personalized medicine. But what does that mean and how does it impact you? I'm Dr. Kyle Bradford Jones, a family physician at the University of Utah School of Medicine, and we're talking about that on The Scope.

Announcer: These are the conversations happening inside health care that are going to transform health care. The Health Care Insider is on The Scope.

Dr. Jones: I'm joined by Dr. Will Dere, an internist and endocrinologist at the University of Utah and Executive Director of Personalized Health at the university. So, Dr. Dere, as a physician, when I think of personalized medicine, I think of using genetic data to better form treatment plans for patients. However, a patient hearing that term may think of something a little bit differently. What exactly is it?

Dr. Dere: Personalized medicine and precision medicine have been pretty broadly used. It communicates the notion of a patient, each individual is different and has a different complement of genes, has different exposures to different environments, and may have different lifestyles. All of those factors, genetic, lifestyle, environmental, has an impact on her or his health. So that's the broader notion. It's a very patient-centered notion.

Genetics, though, is a major component of it and I think we have seen the terms used with respect to genetics and particularly cancer. It's an evolution of how we look at patient care. It's not this new thing that's kind of going to come and go. But based on the tools that we have, such as being able to develop and understand a person's genome, better understand their environmental influences, we can do better in making sure that that right patient is getting the right intervention at the right time.

So that's the entire notion. Precision medicine is really the use of the different tools that we have now, ranging from genetics to understanding environmental influences, and really trying to tailor interventions to best suit a patient's needs.

Dr. Jones: Right now, we're using it mainly in oncology. How do you see it expanding outward into other areas of medicine?

Dr. Dere: So we have moved from 100 years ago to kind of an intuitive approach to medicine, now to having evidence-based medicine where we look at particular interventions between groups of individuals. Does this intervention, again drug screening test or medicine screening test, or the like, does it really impact outcomes? We have to hold onto that and continue to do that better.

Now, in this next iteration, or I'll say the next evolution of evidence-based medicine, cancer has been leading the way. Why is that so? Because we frequently talk about, "Well, we're going to kind of cure the disease cancer." Cancer is really thousands of different diseases that have a different molecular basis. Our tools in the genetics and genomics now are allowing us to gain insights into, first of all, are particular individuals predisposed to cancer?

We should be very proud of our heritage here at the University of Utah because the BRCA1 gene, which predisposes to breast/ovarian cancer, and actually the p16 gene, which predisposes to melanoma, and also the APC, which predisposes to colorectal cancer, were all discovered here. So we have a very proud history here of tremendous advances that can be made then based on, again, identifying selected patients who are at increased risk for these cancers. And, hopefully, intervening early so that they will not get the cancer.

Dr. Jones: So in system levels, we talked about the triple aim of healthcare, to decrease cost, improve quality, and provide better care to the patient. You mentioned with it being more personalized to the patient and trying to improve outcomes, effectively addressing two of those aims. Now, this sounds like it's going to take a fair amount of upfront cost. How do we see this long-term affecting that third area of cost?

Dr. Dere: So I think when you look at the totality of cost, we're spending in the US now over 17% of our gross domestic product on healthcare. When you look at our outcomes, fundamental things like infant mortality and just the longevity of men and women, we are not the best. We are far from the best. Bottom line, I think we need to acknowledge that we can and we must improve. So that's number one. The costs right now, I think, are exceedingly high compared to other countries who are delivering care with better outcomes.

One of those areas, too, I think we have to decrease cost is, number one, not to do unnecessary things. Now, this gets away from the genetics, per se. But there are certain diagnostic procedures, there are certain medicines that should not be used in patients in a variety of different settings, ranging from an MRI with routine low back pain, all the way to the use of Herceptin in patients who are not HER2+. So it's the potential cost savings of doing things that should not be done.

Related to that, I think is the importance of practicing, because we have substantive evidence on a number of disorders now, where we can in evidence-based, medicine-oriented practice. So I think we can save costs there. We know that for colorectal cancer, unless you are KRAS wildt ype, you should not get a particular antibody called cetuximab or panitumumab for colorectal cancer. So that means that 50% of the population should not get this.

So one thing is actually saving money in areas where we can and should be doing better. The other aspect, again, away from the field of genetics per se, is to identify those individuals who are, I'll say maybe the sickest or the highest risk for added burden of cost. Really, to target interventions to them, maybe better prevention and the like. Well, if you're doing fancy tests, diagnostic tests and the like, it is going to be a cost burden.

You hope, though, and what we have to move to, to this area of cost, is actually delivering value. It's important, then, that we look at value in terms of, I'll call it a ratio of your clinical outcome, and the outcome is broad. Are you adding life years to an individual by an intervention? Are you enhancing quality of life? Are you enhancing patient satisfaction?

Okay, so I'll put all of that in terms of enhancing an outcome. What you hope from a system perspective is that you have, perfection is, "I want better outcomes with less cost." What you want to do is enhance value by improving their outcome at an incremental cost that we as society view as a reasonable cost.

But the point of all of this is I would love to turn the discussion of cost into, first of all, what are things we are doing that we shouldn't be doing that will save costs? What are other things that we could be doing better that will decrease costs? Then, the third bucket, then, is if you need to pay more for certain things, are you accruing additional incremental improved outcomes so that the overall value is increased?

Dr. Jones: If we have a patient, who themselves or a family member has, for example, breast cancer, they go to see their oncologist and they hear this. They want to know if they have the HER2 gene. Is this something, first of all, that's standard of care when they go to get evaluated? Second of all, is it something that insurance is covering?

Dr. Dere: Paying assiduous attention to getting a good family history is really the key thing. Mother, father, siblings, grandparents and the like, for critical diseases that we believe run in families, breast cancer, prostate cancer, and the list goes on, cardiovascular disease, diabetes, and the list goes on. So that's actually very, very important. There are, then, a number of diseases. I think the American College of Medical Genetics has identified nearly 60 different diseases that they can attribute to a genetic mutation.

I would really follow the guidelines of key professional societies that are constantly evolving now in terms of appropriate use of a variety of now available diagnostic tests in this arena, whether it's for an individual who has premature colorectal cancer, breast cancer, and the list goes on.

Cardiovascular disease now, with the availability of more potent cholesterol-lowering drugs, we don't remember that 1 in 500 individuals have something called heterozygous familial hypercholesterolemia, which predisposes them to premature cardiovascular disease. If you do that calculation with 3 million people in Utah, you realize that that's a lot of people here in Utah. And probably, if we are like the rest of the country, probably 80% to 90% of them are undiagnosed.

So again, family history. Boy, the light should go off if you have someone who has a premature heart disease like heart attacks in their 30s and 40s. I think what we need to do, as leaders here in the academic medical centers, are to really ensure that we highlight the importance of accurate, high-quality diagnostic tests. Because without the accurate, high-quality diagnostic test, precision therapies directed against a subset of lung cancers, colorectal cancers and the like actually can't be appropriately applied.

It is our responsibility then to, first of all, develop those high-quality tests and to make sure that in our discussions we really emphasize the importance of diagnostic testing. We are not going to improve the use of precision therapies if we don't have accurate diagnostic tests. I think insurance companies are understanding this, but the reimbursements have been variable.

It's important that we, again, highlight the evidence available, that we are going to be using our available therapies. Whether it's a new targeted therapy or an existing therapy that can be used in a better way to enhance patient outcomes and enhance value.

Dr. Jones: So mentioning those high-value and accurate diagnostic tests that, in many cases, are not available at this point, if a patient comes in to see me as a primary care physician and they say, "Well, I want to know what my risk of breast cancer is," it sounds like, at this point, the best way is to go a little bit deeper into the family history than we traditionally have.

Dr. Dere: Ninety-five percent of cases you diagnose by your history. Right? So I'm going to emphasize that in the world of "precision or personalized medicine," some of those very fundamental and I would say relatively inexpensive tools that we have that I think we can get better at now in the world of the Internet and social networks, that some those tools we should do.

Dr. Jones: Yeah. So it sounds like, in summary, basically precision medicine is kind of an expanding field that we have a lot of tools that will be coming down the line in a number of years. But also, it's one of those things where as clinicians as well as patients, we can take better advantage of kind of the simple tools that we should be focusing on.

Dr. Dere: Right. I think that's right. We need to use all the tools that we have. I would think of precision medicine as really an evolution of what we hope is improved, evidence-based medicine that enhances individual patient outcomes. I just think of it as an evolution. We're getting better. We have more tools, and I think you stated it right. It's the use of old and new tools to really better target and better individualize our interventions for patients.

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