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10 new genetic tests on the market daily?

“Trying to sort out what to use, when, and how much to pay for a test is pretty complicated,” says health policy and economics researcher Kathryn Phillips, PhD, quoted in the Washington Post: Medicine’s Wild West: 10 new genetic tests enter the market each day. More coverage: Research outlines challenges for adoption of new genetic tests.

Unraveling the mysteries of the human genome

Video: 1 minute, 35 seconds

TRANSPERS director Kathryn Phillips, PhD, provides a brief introduction to the TRANSPERS vision of using our improved knowledge of genetics to improve patient outcomes.

Transcript: Unraveling the Mysteries of the Human Genome

[Onscreen titles: Kathryn Phillips, PhD, Translational Research Expert, UCSF School of Pharmacy.]

It’s been a little more than a decade since we first unraveled the mysteries of the human genome, and we now have the ability to sequence an entire genome quickly. My work focuses on how we can actually use genetics to improve patient outcomes—what we call personalized medicine or precision medicine. I focus on how personalized medicine can be used to provide high-value care while reducing care that does not improve outcomes but only increases costs. I founded and direct a center at UCSF called the Center for Translational and Policy Research on Personalized Medicine that has been addressing these issues for almost 10 years. We look at: Are the people most needing these new technologies getting them? Should these new technologies be covered by insurers? What is the most efficient way to use these new technologies? Where are there gaps in what we know? And how do we close those gaps? Our goal is to answer these questions so we can provide targeted care specific to the individual while reducing unnecessary costs.

[Onscreen titles: UCSF, University of California San Francisco, produced by UCSF University Relations, © 2014 The Regents of the University of California Regents.]

Kathryn Phillips faculty profile

Video: 4 minutes, 7 seconds

TRANSPERS director Kathryn Phillips, PhD, provides a short discussion about her work as a professor of health services research, the three key issues of her work, the four kinds of hats she wears to describe her multiple roles in the communities involved, and the kinds of questions and research this work entails, all with the goal of advancing health for everyone.

Transcript: Kathryn Phillips - Faculty Profile

[Onscreen titles: Kathryn Phillips, PhD, Department of Clinical Pharmacy, UCSF.]

Hello, my name is Kathryn Phillips, and I’m a professor of health services research in health economics here at the University of California, San Francisco. I’m in the School of Pharmacy Department of Clinical Pharmacy, and I direct a center called the UCSF Center for Translational and Policy Research on Personalized Medicine. What is a professor of health services research? Health services research looks at how we organize, deliver, and finance health care. So what I do is I take a toolbox of different approaches from social science, and I apply those to studying health policy issues. And there are three really key issues that I look at. Number one: the need to provide access to care so that we’re fair in who gets health care. Number two: the need to have high quality care so that people get the care that they need. And the third is value of care. Are we providing high-value health care? So using this toolbox requires me to wear four different hats. The first one is as an academic. I’ve been at UCSF for 20 years and have been able to apply what I got from my two degrees—my PhD is in health services research from UC Berkeley, and then I have a degree in policy analysis from Harvard University. My second hat is working with patients and providers. The third hat is working with government agencies. And then the fourth hat is working with industry, and that includes pharmaceutical and biotech companies as well as health plans. My specific focus is using health services research and applying it to emerging and new technologies. I address questions such as: who uses health care services? why are there barriers to adoption of new technologies? What services have the most value to patients, providers, health plans, and society? Where are there gaps in what we know? And what can we do to address those gaps? I focus particularly on personalized medicine—targeting health care based on people’s genetics. It’s only been 20 years since we sequenced the human genome, but since then there’s been a huge explosion of what we know about the role genetics plays in health care outcomes. So that there are now thousands of diseases that have genetic tests associated with them, and this is not only in cancer, which is a major area, but also in a lot of other common diseases: heart disease, asthma, diabetes, mental conditions. All of these have genetic components, and now we have genetic tests that can be used to target health care appropriately. So the types of studies I’m doing look at how we can use these new discoveries about the genetic nature of disease to improve patient outcomes while at the same time doing what‘s right for our health care system and for society. So currently I’m doing a number of studies on these new, emerging technologies, particularly whole genome sequencing, which is a very exciting new technology, but it’s so new that the technology is ahead of us in that we get so much information from sequencing but we don’t know yet what to do with it. So I’m doing several studies that are looking at those critical issues. Learning how to use these new technologies and fixing our health care system is really important. [Onscreen titles: Kathryn Phillips, PhD, Department of Clinical Pharmacy, UCSF.] So I look forward to working on these issues here at UCSF for many years to come.

[Onscreen titles: UCSF, University of California San Francisco, School of Pharmacy,, © 2012 The Regents of the University of California, all rights reserved.]

Deborah Marshall, highlights of ISPOR Berlin 2012

Video: 2 minutes, 47 seconds

TRANSPERS collaborator Deborah Marshall, PhD, University of Calgary, describes highlights from the ISPOR 2012 conference in Berlin. Marshall is president of the International Society for Pharmacoeconomics and Outcomes Research, the leading global scientific and educational organization for health economics and outcomes research and their use in decision-making to improve health.

Transcript: Deborah Marshall - Highlights of ISPOR Berlin 2012

[Onscreen titles:, Deborah Marshall, ISPOR President 2012–2013 talked to Ruth Whittington of Rx Communications about the highlights of ISPOR European Congress at ISPOR 15th Annual European Congress, November 3–7, 2012, Berlin.]

Whittington: I’m at ISPOR in Berlin, 2012, with the current president, Deborah Marshall. Deborah, would you mind introducing yourself to us?

Marshall: Absolutely. Thank you very much. ISPOR is the International Society for Pharmacoeconomics and Outcomes Research, and I’m Deborah Marshall. I’m the president of ISPOR, and I have the privilege of being the president of ISPOR, which is an international society, and we have almost 11,000 members around the world. I’m based in Calgary, and I’m a Canada research chair in the University of Calgary, and I have worked in health technology assessment in different countries around the world and also in industry as well, as academics.

Whittington: Thank you. And could you tell me what you think has been the highlights for this particular ISPOR?

Marshall: Well, to begin with, we had another record-breaking meeting in terms of the number of registrants. We were over 3,500 registrants from all around the world, yes, so we had about 1,600 presentations and 33 workshops and three plenary sessions, and I think everybody’s exhausted on day 3. But I think the highlights are the open debate and discussion around how do we deliver cost-effective care? How do we communicate with our policymakers? And how do we think about the factors that really should go into those decision-making. I’m a health economist by training, and I think the whole premise is that we never have enough resources, so how do we think about what are the key things that go into the decision-making process when there really is never enough. And on the surface that sounds like an easy question, but you have to think about whose preferences to take into account. How do we think about which services are the best? How do we think about different diseases. How do we think about young people, old people, should age be a factor, and all of these things? And, as you can guess, there are no clear and easy answers, so this continues to be a challenge, and we try to, on the basis of science, inform those kinds of questions. And one of our big efforts at ISPOR and one of our themes now is how do we get this information to the policymakers and the decision-makers in an easily communicable and usable form?

Whittington: Thank you very much, Deborah, that’s really appreciated.

[Onscreen titles: We would like to thank Deborah Marshall, International Society for Pharmacoeconomics and Outcomes Research (ISPOR), ICC Berlin. The views, opinions, positions or strategies expressed by the interviewers, interviewees and those providing comments are theirs alone, and do not necessarily reflect the views, opinions, positions or strategies of, the interviewers, interviewees’ employers or any employee thereof. An production © 2012. is a collaboration between Rx Communications and]

Amy McGuire discusses personal, social and policy consequences of genomic sequencing at TEDMED

Video: 13 minutes, 37 seconds

TRANSPERS collaborator Amy McGuire, JD, PhD, Leon Jaworski Professor of Biomedical Ethics and Director of the Center for Medical Ethics and Health Policy at the Baylor College of Medicine, provides a cautionary framework for genomic sequencing that takes into account its personal, social and policy consequences.

Transcript: Amy McGuire - There is no genome for the human spirit

[bioscience imagery, music, woman vocalizing. Onscreen titles: TEDMED Talks, TEDMED]

If you could take a test today that told you your chances of getting cancer or of developing a disease like Alzheimer’s disease that you can’t do anything about, would you take that test? If you are a physician would you recommend that test for your patients? What if your child had their genome sequenced, and you discovered that they had a genetic predisposition to, say, sudden cardiac death? Would you let them play Little League baseball or high school basketball? These are no longer hypothetical questions, and the ability to routinely sequence humans is no longer science fiction. It is estimated that by the end of this year more than one million people will have had their genome sequenced. Many envision a world in the not-so-distant future where we will all be sequenced, potentially at birth; where we will all have access to predictive information that suggests diseases we might get and how we might die; where we will be sharing our genomic information on social media and using it to find our perfect mate. Genome sequencing has propelled biomedical research, and we now have many examples we’re having genomic information is beneficial, even life-saving. Thousands of patients are benefitting right now from genome sequencing. For many of them, we are able to understand the genetic cause of their disease and for some having that information has even led to more effective medical treatments. There are also examples of gene mutations that have been shown to meaningfully predict your future disease risk. So, for example, as Angelina Jolie discovered, having the BRCA gene mutation can significantly increase your risk of breast or ovarian cancer. And many people with that gene mutation may decide to do what Miss Jolie did and prophylactically have their breasts removed but one person’s transparency may be too much information for another. Many people assume that under all circumstances more information is better, but there may be times or places or people for whom it isn’t wise or compassionate or even appropriate for us to burden ourselves with every possible scrap of predictive information, especially if we treat our genome as if it were a guaranteed lockdown forecast. Now, you all know this already, but I think it’s worth stating the obvious. Our genome sequence is not an infallible prophecy of our future. The vast majority of diseases, traits, and behaviors are complex and multifactorial. They can’t be reduced to a single gene or even to genetics alone, and despite what popular media suggests, there is no single gene that determines your IQ or your religiosity. And as good of an excuse as it might be, infidelity is still more about what we take out of these jeans than what is in them. I believe that genetic determinism is the biggest threat to the responsible integration of genomics. Too often we are seduced by the tendency to simplify the very complex relationship between our genes and our environment and to reduce the mysterious nature of the human spirit to our genetic makeup. Our genome sequence is the genetic blueprint of our biological self, but how much does it—or will we let it—define who we are? I recently had the opportunity to have my own genome sequenced for free as part of a colleague’s research study. Much to my surprise I was tremendously ambivalent about whether or not I wanted to go through with it. Now, as part of my research I study people like me who are offered to have their genome sequenced. We have one study where we’re recruiting individuals who have a compelling medical reason to be sequenced, and in that study what we’re finding so far is that about 97% of the people who we have recruited to participate have agreed to participate. In another study where we’re recruiting individuals who don’t have as compelling a medical reason to be sequenced, only about 51% of those who we approach agree to participate, and of the 49% who have declined participation, there’s really two reasons why they decide they don’t want to have their genome sequenced. First they’re concerned that having access to predictive information might stress them out or make them anxious, and second, they worry about their genetic privacy and the potential for others to be able to access their genetic information and use it to discriminate against them. Now, I only had a small window of opportunity to decide if I was going to participate in my colleague’s research study. I personally am a huge proponent of research, and I also understand the social benefits of studying many different people’s genomes, so I let my colleagues take my blood and sequence my DNA and use it for their research, but with the understanding that I needed a lot more time to think about whether or not I actually wanted to know the results. And so began what I thought at the time would be a pretty straightforward decision analysis to move me from my position of ambivalence to an informed choice. But over the past couple months that decision analysis has really morphed into a much deeper journey of self-reflection, and at the root of that journey has been me coming face-to-face with my own genomic vulnerability. I have a family history of neurodegenerative disease. My grandfather who I fondly remember as a funny, smart, World War II veteran, he taught high school math, he wrote textbooks, and he used to tell the same jokes over and over again as if it was for the first time. He was diagnosed in his 70s with Alzheimer’s disease. Now, I remember spending my high school and college years watching as this devastating disease hijacked first his memory and eventually his entire personality, and I just remember thinking to myself as a young, invincible 20-year-old, man, I hope I never get like that. My mom who is still one of the most amazing women I know was diagnosed in her early 50s with Parkinson’s disease, and so one of the first things that I thought about when I thought about getting my genome sequenced was, okay, all of the sequencing is good for discovery, and it may benefit others, but what about me? Now, I may benefit from the information especially if it leads to early detection or better prevention, but how was I going to feel if I found out that I had a genetic risk of getting Parkinson’s disease or Alzheimer’s disease? What if they found something I didn’t even know that I was at increased risk for, like cancer or diabetes? How would that make me feel? How would it make my family feel? Would my mom feel guilty? Would my husband look at me and instead of seeing me see the potential burden that I might become for him in the future? There’s a lot of research going on right now to study how people actually do respond to genetic information, whether it stresses them out and makes them anxious or whether it has the opposite effect and actually empowers them and motivates them to do all the things that we all know we should be doing anyways but we don’t, like exercise more, eat healthier, get regular check-ups. Early studies confirm what we know from decades of human psychology research. First, it is really hard to get people to change their behaviors for the long term, and second, we are pretty terrible at forecasting how we’re going to respond psychologically to upsetting events or bad news. The good news is that we tend to be incredibly adaptable, and so we don’t usually get debilitatingly depressed or anxious even when faced with upsetting genetic information. But I wasn’t so worried about severe depression or anxiety. I was much more concerned about the very subtle ways that having access to genomic information might affect me and those around me. Now, I am acutely aware of the fact that in the vast majority of cases even if you have a gene mutation that shows that you’re at increased risk for Parkinson’s disease or Alzheimer’s disease, for example, it doesn’t necessarily mean that you’re going to get that disease. And conversely, even if you don’t have that gene mutation it doesn’t necessarily mean that you’re not gonna get the disease. But knowing this in your head and knowing this in your heart are two very different things. I also wondered whether other people might be able to access my information and use it to discriminate against me, but I trusted my colleagues to keep my information confidential, and I personally think that the risks to my privacy are very small. In fact I am much more concerned about the privacy of my credit card information, which I have voluntarily agreed to share on way too many websites, but still I couldn’t help but wonder would other people who I don’t even know be able to see my genetic information? And would they use it to make assumptions about who I am and what will become of me? Or would they resist this temptation towards genetic determinism and understand that for the vast majority of diseases, traits, and behaviors our genome sequence is not a crystal ball? Although they are available I still have not received the results of my genome sequence. Perhaps I never will. But if I have a compelling reason to I hope that I remember who I am and that I never let that information define for me the limits of what I can expect of myself and of this extraordinary life that I was given. And as the next million people get sequenced I hope that we as a community remember who we are, that we use the information to improve health and to better understand our individual and collective biological inheritance, that we use it to connect to one another rather than to create an even larger divide between us and them. I am optimistic because although I think it is easier to reduce this complicated, mysterious, beautiful thing that some people refer to as the human spirit to a string of letters, I believe that there is an entire generation waking up to the reality of who we really are and that we are all connected. We are so much more than our string of A’s, C’s, T’s, and G’s. We’re the stories that we tell about ourselves. We’re our emotions and our lived and shared experiences. Genome sequencing is a wonderful tool to help us better understand our genetic makeup but there is no genome for the human spirit. There is no us versus them. We are all expansive and connected at all levels, even at the genomic level. In a sense that is our social inheritance, and it is up to us right now to decide that it is that rather than the fallacy of genetic determinism that gets passed on to future generations. Thank you.

[Onscreen titles: TEDMED, TEDMED Talks]

Kathryn Phillips leads national study of benefit/risk in emergent whole genome sequencing

Do you wonder what’s in your genetic code? How do patients and physicians weigh the benefits and risks of whole genome sequencing? What are the implications of this testing for the health care system? Our faculty member Kathryn Phillips, PhD, leads the way, exploring these questions and more: Phillips leads national study of benefit/risk in emergent whole genome sequencing.