Personalized Health Care Initiative Workshop: "Understanding the Needs of Consumers in the Use of Genome-based Health Information Services". Looking to the Future of Consumer Services (moderated Discussion)


We will wrap this up at 5:30. I know people have airplanes and transportation arrangements, so we will not let this drag on. But if you could help me by taking your seats so we can get started with the last panel I would rally appreciate it.

There will be some overlap here; we’ve gone over many of these issues with the other panels, and certainly with the questions and answers. But as I said at the beginning, some things are simply worth redunding.

This is a panel on what’s available now and what’s available in the future. It’ll be chaired by Nancy Johnson, who is currently a Senior Public Policy Advisor at Baker Donelson. Her background is 24 years in Congress -- I heard a Congressman say one time that being in Congress working is like dog years, so one year seems to last as long as seven. So I don’t know what the math is on 24 years, but congratulations on such a wonderful career and thanks for being here. She’s had a long-term interest in health care, being a sponsor and supporter for things like mental health, (inaudible) legislation, Patients’ Bill of Rights, and my personal favorite, Taxpayer Bill of Rights; has had many awards to include the National Patient Advocate Foundation and as with the other panels, she will introduce the other panelists and we will go ahead and get started.

MS. JOHNSON: Thank you. We are the last. And as we start -- but -- the questions have been wonderful, the presentations have been wonderful; I certainly have gotten a lot out of my afternoon. And I want to put this last discussion -- well, in fact, the whole afternoon’s discussion in a slightly different context.

If we are to continue to see breakthroughs in medical science, if we are to speed the delivery of those breakthroughs to patients, if we are to provide access to affordable health care to all Americans, then we must abandon our illness treatment model of health care. Furthermore, if we are to afford the kind of health that science and universal coverage will provide for this nation, we absolutely must abandon our illness treatment model of health care. Over the course of recent years -- recent decades, I guess I would say, we’ve learned to keep a lot of people alive. And we have fundamentally altered the kind of care that most people need. And in so doing, we have created what I call the 80/20 problem. Some people say it’s not quite 80/20 it’s 75/25, whatever. The bottom line is that whether it’s the public system or the private system, 75 to 80 percent of our dollars go to 20 to 25 percent of the people. And that’s because we are trying to manage people with multiple chronic illnesses only after they get sick enough to go to the doctor -- in other words, with an illness treatment model. So the good news is that in a reformed -- in a health and wellness centered model, patients have to be more active. You cannot manage someone’s chronic disease if they do not want you to manage that chronic disease because you can’t take their medicine for them. So it’s very different -- very simple, but it’s absolutely going to be a dramatically different system from the point of view of the patient. They will have to be far more involved in their health than they are now in their health care. So that’s the good news. The bad news is that being involved in your health care isn’t always easy. And furthermore, we have never involved patients much in their health care; we have told them what was wrong and what they needed to do to get better. You cannot do that in a health and wellness system, so I see this conversation about how do we talk to people about genetic issues as part of this whole larger issue of how are we going to talk to ourselves about a patient-centered health care system in which, truly, the patient is a part of the care delivery system.

One of the things I worked the most on was the development of chronic disease management demonstrations. And the hardest thing was how do you get this into a fee- for-service system. And when you look at what’s happened, you see all of those systems, and that’s why the call-in system, the telephone advising system that we’ve heard something about is something we actually know about. But we also know that you have to change the way you talk to patients and you have to constantly change the way you talk to patients because patients are experiencing different things as they manage their own diseases. So this issue of, how do we talk to ourselves and what are the implications, is something that’s extraordinarily important to us not just in terms of how are we going to integrate genetic medicine into a more holistic health- oriented care delivery system, but because in that area almost more than any other area, honesty is hard, transparency is difficult, but if your communication isn’t both honest and transparent, we will not be able to generate the quality health system that we have the science and technology to enjoy.

So I consider this an extremely important discussion that we’re having here today, and I’m delighted with the people that we have in this panel, as we have had excellent people all day long. There are different characteristics to these conversations; when I talk to doctors who do pharmacogenetic testing for patients that have mental illness or some other things where there’s quite a specific relationship between the testing and the medical treatment, you certainly get one kind of response.

But in the larger arena, how do we make sure that what we begin to -- how we begin to talk to ourselves and how we begin to handle this new knowledge in that communication does indeed deepen not only the health knowledge of those who take the tests, but the health knowledge of the general population. And how do we deepen their ability to judge value from the kinds of information that they are going to get in the future, whether it’s about how to manage their diabetes or in this rather more complex but very important area. I mean, what is the relationship between genetic testing and diabetes? And if it comes to where there’s a pretty good relationship, how does government foster that? How does the private sector react? What are we doing to motivate? So it’s really a big and important conversation, and I’m delighted with the kind of people that are going to do the big talking here.

But we’ll start with Ronni Sandroff who is Director of Health and Family for Consumer Reports and responsible for the health coverage across media products, including Consumer Reports magazine, Consumer Reports on Health’s monthly newspaper, CR TV, and the new health website, Thank you very much, Sandy (sic), for being here with us.

MS. SANDROFF: Oh, thank you. I’m so happy to be here. It’s been a very interesting meeting so far. Someone asked me in the ladies room, why is Consumer Reports here? And I’ve been health editor there for nine years; we’ve covered health for 70 years, but we are best known for the car ratings.

So one of the things we’ve been doing for the last few years is trying to apply some of the methods we use for ratings and recommendations of products to rate more health care products and even to get into rating treatments, drugs, hospitals, and so on. It’s not the same thing at all, but I think what is the same is our ability to communicate to consumers the relative value of various products, and in some way, that’s kind of, you know, dealing with relative risk is one of the hardest concepts, but that is what we do all the time.

So how do we evaluate health care service? We look at the research and we look to you for good summaries of the research; we don’t do it ourselves. But we’re also aware of something I call flopability. We do an article every couple of years on overturned health truths, and we never have trouble finding material. So we’ve done estrogen, antibiotics for ear infections, I could go on and on. So I’m concerned about that -- the genetic test results that you get today, what will they mean in five years or in five months? I also am concerned as the many panelists have raised on the usefulness of the results, both medical -- and I do think there is personal usefulness if there’s good predictive value, but perhaps not that much you can do about the disease right now. I think it’s up to the individual to decide what they might do with that information.

But the thing that really attracted me to this meeting was the prediction from the organizers that there was going to be an explosion in direct-to-consumer advertising for genetic testing over the next few years. And we are very concerned about the power of dtc ads. I mean, we’ve seen in the pharmaceutical area over the last ten years, perhaps some good education coming from all the pharma ads, but also maybe a waste of medical time. I mean, how many times a day are you told to ask your doctor about something that might not really be your most important issue? And very much concerned about the over- prescription of some new drugs because of the advertising.

I’d also like to support a point that Ryan made earlier. People will assume when they hear these ads that they’re on the up and up; they will assume that the results are valid, that the government has kind of taken care of it. I mean, we’ve surveyed -- and many people have surveyed consumers about the use of dietary supplements, and an amazing amount of people assume that the FDA has tested them for safety and efficacy. After all, they allow them on the shelves; they allow them to be advertised on TV. So I think that that’s an area that we will be watching. One of the great things about working for consumer Reports is that we don’t take ads, which means we can criticize your ads. So we’ll be watching that.

But what I was asked to do for this panel was to -- as we’re looking to the future, to come up with some cases. And we kind of do this in publishing; we try to imagine the consumer. So I’ve imagined two consumers who in -- maybe two -- maybe not now, but in two years, three years, might be attracted by direct-to-consumer ads to get their genomes tested.

My first victim here is Adam (phonetic), 42, and he’s a bit of health nut. He wants the best of everything. Both his parents are overweight, they both have diabetes, they both have heart problems, and they’re on multiple medications. And he’s already exercising and dieting and doing everything. But he’s gotten a promise that he’s going to get customized advice about how to lower his risk. So my question to the rest of the panelists is, you know, will that promise be fulfilled?

Is it worth his $1000?

And then let’s go out a few more years into the future and think about Jack and Jill, and they’re both 32 and they’ve just become engaged. She has a brother with autism, he has a family history of Type 1 diabetes, although he doesn’t have it himself, and they’ve decided to have their whole genomes tested and scoured for risks. So will a genetic test give them useful information about whether to have children? If they decide to adopt, will those adopted children be screened for genetic risks? I’m not sure, but I’m very interested.

MS. JOHNSON. Thank you very much. Our next panelist is Angela Trepanier; she is a certified genetic counselor and has led the development of genetic counseling at at least two universities and is currently the President of the National Society of Genetic Counselors, responsible for leading that association and being its chief spokesman. It’s a pleasure to have you here today, Angela.

MS. TREPANIER: Thank you. So I’m not going to answer your questions, but present my own cases for consideration because the points that I wanted to make is that for personalized medicine really to have promise, you have to have a personalize approach based on the patient.

So I’m going to start with two patients: Alice (phonetic) and Mary (phonetic), both of whom had a father who was diagnosed with diabetes in their 40’s. With Alice’s case, her father was diagnosed after a routine physical exam revealed that he had an elevated blood glucose. He had the appropriate follow-up testing and was found to have the disease, and then managed his condition through exercise, diet, and medication. So he got that information about his health through routine health care and was proactive about the way he managed it. And so the message is that Alice got from her father is that diabetes is manageable, you just have to do some things, but these are very reasonable things to do to prevent complications from the disease.

Mary, on the other hand, her father was diagnosed with diabetes after being hospitalized with severe elevated glucose and ketoacidosis, and he almost died at the time of hospitalization. She was 7-years-old at the time and remembers that critical event very well.

Her family is Italian; their diet consisted of pastas, meat sauces, not things consistent with a good diet for a diabetic. And her father was obese and didn’t comply with diet or exercise regimen, but did take his medication.

But he unfortunately died at the age of 65 from congestive heart failure, basically, complications of diabetes. So if you take these same two women who at face value have exactly the same family history in terms of at least the person affected, their needs are going to be very, very different. Alice, I know -- now know that you can classify her as one of these “lead the way” people because her family taught her that if you have a condition or a risk, you manage it aggressively and it’s easy to do that. She’s already dieting, she’s exercising, and she might present for genetic testing and genetic counseling because she wants to know what else she can do. She’s already scoured the internet, she’s found out about the genomic testing that’s available. We’ll assume this is three or four or five -- I’m not sure how many years down the road -- when we know that what the value of the information is when it’s coming from one of these tests.

And not only does she want to know what her risk is, because she sort of already thinks she’s at increased risk, she wants to know if there’s something else she can do. She’s happy to diet, she’s happy to exercise, but she wants to take it to the next level.

Mary, on the other hand, is referred for genetic testing and counseling because her primary care physician is frustrated. She’s overweight, she doesn’t exercise -- for years he’s been telling her that those are risk factors for the disease that her father died from, but she won't budge. So he’s sending her off to genetics to get information and hopes that that will trigger some change in her behavior.

And so the approach that you need to take with these two women or two men or whoever it is, is going to be completely different. With Alice, who is very proactive and has done the research, she is coming in potentially for information and she wants to be proactive. With Mary, if you don’t deal with the anxiety that she has about the diabetes in the family and figure out why it is -- with the assistance of other health care providers, that she won't comply with diet and exercise and what the issues are that prevent her from doing that, then giving her a genetic test may not provide any benefit whatsoever. And so the important message here is that it’s not enough just to have a genomic or a genetic test, you really have to take into consideration the person presenting in front of you and what their concerns are and what they’re capable of doing. And then you also have to -- for both women -- present the information that you’re providing in a way that’s conducive to how they learn information. So we know from genetic counseling that some people are visual learners, some people are oral learners, some people want face-to-face consultations, some people want to do telephone counseling, some people want internet resources, some people want written materials. All of those things have to be available if you want to provide good information to all the people who might potentially benefit from genetic testing and counseling.

You also want to make sure that -- here in this example I have you in the example of two people who have a family history, so they have a context for the disease for which they might be at increased risk -- there are going to be a lot of genetic tests, like we’ve already heard, where there’s no family history and all of the sudden somebody’s told -- assuming that it’s credible information -- that they have an increased risk for something that they have no experience with. And they’re going to need something more than your word to make them believe that that information is valid information.

So what we need to do now in getting ready for good genetic testing, is start to educate people about the broader applications of genomic testing. It’s not just about these single gene disorders that other people have, it’s about chronic diseases that any of us can get, and we need to start including that information in our health classes and also in our textbooks, and then also -- and most important -- we need to make sure that all health care providers are educated about the availability and the validity and the credibility of genomic tests. Because coming and getting a test result and just meeting with a genetic counselor who tells you this is what you need to do, is meaningless if the rest of the health care team that needs to be there to help that person act on that information doesn’t give them the same information and validate what they’ve heard.

MS. JOHNSON: Thank you very much, Angela. You can certainly see through her comments how the system has to change -- how profoundly it has to change. Katherine Johansen is the Senior Scientist at the American Medical Association’s Program in Genetics and Molecular Medicine. Before joining the AMA, her main focus was laboratory research on molecular cell and developmental biology projects. At the AMA, she leads the development of physician education programs on medical genetics, including pharmacogenetics, the genetic basis for Warfarin dosing, the genetics of common disorders, and the translation of genetic technology into the clinical setting.

Thanks, Kathy.

MS. JOHANSEN: Thank you. So, like Nancy said, our main focus at the AMA and the Program on Genetics and Molecular Medicine is to provide educational resources and support to physicians as they integrate new genetic technologies into clinical practice. And so because this area at this dtc genetic testing area has really exploded in the last few years, it is an area that has become an area of interest and concern even for the AMA.

So recently the Board of Trustees of the AMA decided to study this in a bit more detail and recently set forth policy on what the AMA feels should be the next few steps in dealing with direct-to-consumer genetic testing.

So in 2004, which is when our old policy was established, the AMA House of Delegates which is the policy setting chamber of the AMA, really just decided to generally oppose direct-to-consumer genetic testing. And one can imagine that there were many reasons for that and probably one of them is something that we heard a bit earlier, which is that there’s kind of an old fashioned view that physicians want to be the sole source of health information and don’t want to give that up. And that is certainly possible that that was the reason that our old policy existed, but I think that physicians now are realizing that that is just not going to be effective.

It’s not going to be effective to just blanketly oppose direct-to-consumer genetic testing because it’s here and it’s something that needs to be dealt with. So at our recent policy-making meeting in June, a new policy was adopted which really still encourages patients or consumers to come to their physicians with questions, but doesn’t blanketly oppose direct-to-consumer genetic testing anymore. So instead, like I said, the AMA encourages consumers with questions to come to their physician. And it also addresses advertising, which is something we haven’t really talked about a lot yet. There -- a lot of the information that consumers are getting about direct- to-consumer genetic testing is through advertising, and so one concern that physicians have is that they are getting truthful information in that advertising since that advertising is partially what drives consumers to decide that they want to take this test.

So the AMA, along with some other organizations, would really like to come up with some good criteria for direct-to-consumer advertising to make sure that the advertising is truthful and not misleading, it presents a fair balance of the tests’ capabilities and limitations so that the consumer -- and all at the consumer level so that the consumer really understands what it is that they are about to undertake.

The policy also advocates for education of physicians. And I think is going to be key to making sure that consumers know what to do with the information once they have this genetic test. The problem that we’ve seen, however, is that there are some physicians who are not ready to deal with these test results when their patients bring them in.

So we realize that we are advocating for physicians to provide education for patients that come in with these types of tests, but we need to make sure that the physicians are knowledgeable, first of all, in basic genetics, which we see is not the case sometimes. And we also need to make sure that they are knowledgeable in how to interpret a genetic test.

So the -- I guess the point of this panel and the questions that we were asked to answer is, what kind of resources do consumers need? And so I’m just going to take a step, sort of a different attack on that and ask, what is it that the physician can do for the consumer? If we are indeed advocating that physicians should be a source of information for consumers who want to undertake this testing, what is it that the physician can provide to the patient. And before that even can be answered the physician has to understand some intricacies about these tests. The physician first of all has to understand whether a test is even indicated for this patient, and that hinges upon a basic knowledge of genetics in the first place.

The physician needs to be able to tell the patient whether a test is worth getting. Is there any scientific evidence that this test is really worth getting, and is this test going to tell the patient anything? And again, that goes back to the physician being able to understand what the predictive value and the utility of a test actually is. And then the physician also has to be able to use results that a patient might bring into them to come up with a therapeutic plan. And again, that gets back to, does the physician know enough about genetics to use that information in the context of other health information of that patient to come up with a therapeutic plan for that patient.

So in the future I think we really are just going to see more and more of this direct-to-consumer genetic testing and I think that just underpins the need for physicians to be educated a bit more on this topic. And we also need to make sure that this is not a question of physicians just wanting a piece of the pie and not wanting to let go of that power of being able to have the control over ordering a genetic test. This is something that really does have the potential for benefit for the patient of done in a proper way. And so if we can sort of convince physicians to accept this information and understand whether they should accept the information when a test is actually valuable and when it might not be, we might be able to actually give physicians another tool in their, sort of, arsenal in diagnosis and therapy. So, thank you.

MS. JOHNSON: Thank you. As the wife of a physician, I remember those discussions or the conversations that didn’t have a clear to-do list, and that is hard. Mari Baker is currently the Executive in Residence at Kleiner Perkins Caufield & Byers. But before that, she was President of the BabyCenter of Johnson & Johnson Company which was the leading website for new and expectant parents winning numerous online health awards, but expanding also significantly offline and internationally. Equally interesting was her work as Senior Vice President at Intuit where she was the product manager for Quicken and led it’s growth into the number one personal finance product in the world along with international expansion and the launch of So she comes to Navigenics with a lot of experience. Mari.

MS. BAKER: Thanks, Nancy. And actually, currently I’m President and CEO of Navigenics and have been since early on in the company’s days and had the opportunity to be involved with the company before it actually got funding from it’s investors. And the vision that we’ve always had with the company that our founders, Dr. David Agus and Dr. Dietrich Stephan brought to the table was exactly the line of thinking, Nancy, that I think you used in a lot of the introduction is that there was tremendous opportunity to use genetic information to improve health outcomes, to identify people at risk for disease, and begin to have them work with their physicians to identify potential courses of action, if relevant, that can be taken pre-symptomatically to delay or prevent the onset of disease. And, you know, as we look at -- and in answer to the question about the usefulness of this data today, you know, first of all, when we look at some of the data that we have back from our early participants early on as we developed the product, nearly half of the people who got -- 46 percent of the people who had gotten their results participated in our study indicated they had made a change in their daily life as the result of having this information. Their genetic information does in fact create a tremendous teachable moment for people that can lead to changes in diet, exercise, visits to the doctor, working with their doctor to look to see whether they needed any follow-on tests or changes in medication or anything of that nature. It causes, you know, people to think when there is an issue that’s identified and causes people to think.

One of those stories I’d like to get a chance to also share is an early customer that we had who identified a high risk for colon cancer, previously had no known of the classic risk factors which, you know, you might look at a BMI over 30 which provides a predictive odds ratio of 1.7 towards 1.75 towards colon cancer, being a current smoker provides an odds ratio of 1.32 towards colon cancer, and having a family history of colon cancer delivers an odds ratio of 2.24. She had none of these situations and yet her genetic data came back showing a high risk for colon cancer. And when you look at the SNPs that we’re using for that condition, they have odds ratios of 1.47, 1.37, and 1.7 being just as good as any of the classic risk factors, and when taken together, provide a maximum potential odds ratio of 2.54, just as good if not better than a family history. So she took this information, talked to her doctor, her doctor in consultation -- which, again, is what we find our customers will do is if they find something they want to do something about, they’ll talk to their doctor about it, which is the right next step. And they decided to go ahead and do a colonoscopy where they found a 1.5 centimeter polyp which she got removed. And, you know, it is now, you know, going to be on a path of being able to watch for this in the future and, you know, the important thing is she was 39-years-old. Now, you know, the normal, standard practice in medicine would have been she would have not even been offered a colonoscopy until she was 50, and, you know, who knows what would have transpired in the following decade with the polyp that had been identified.

And it’s a story like that that we believe to Katy’s point, does help to provide an additional tool in the toolbox for a physician to look at the patient in front of them, to look at the information that they know about that patient, and the additional insights that genetic information can provide to determine an appropriate course of action, if any. And I think we’ve heard about a number of those here today.

And so I think, you know, it’s evident that the data -- given the nascent nature of this industry, or at least, you know, many of us here today that there are real examples of people deriving real benefit from these services. And absolutely, there are real issues that these companies need to grapple with; we are working together to grapple with those and to come up with solutions. But there is real benefit being delivered and real usefulness today.

MS. JOHNSON: Well, we’re going to open it now to questions from the floor. We can start circulating the microphone. Yes, back there in the back.

DR. LESTER: Yes. My name is Jeff Lester, I’m board certified internist; also I’m doing a medical genetics fellowship at University of Miami. One of the things I wanted to mention, we had been talking about doctors sitting down with their patients and talking to their patients. With doctors, you know, primary care doctors, pediatricians, and internists seeing 10 to 15 patients a day and what they do and how they manage this information, I think it’s important to remember and understand that doctors -- the internists and the pediatricians care about a couple basic things, you know, one thing is what is a diagnosis for this patient, what test do I need to order to get the diagnosis, what drug do I prescribe to the patient to make them better, and also, am I going to get paid for this for this service that I’m providing for them. Those are the key issue is that they want to know. And then, you know, another question that they have is, you know, if the person comes with a printout from a company and today their risk factor is a 25 percent lifetime risk of getting breast cancer, and then they get a bilateral radical mastectomy and then a couple, five years later they find out that their risk factor was only 15 percent -- am I going to get sued, you know? And what happens? Am I going to lose my practice? Am I going to lose my medical license because I’m sitting down and talking with them? You know, is the information I’m giving them good information and is it something that can be put out, you know, in the next 10, 15, 20 years for them.

So, you know, when somebody sits down and -- you know, we’ll have to make sure that the information that the doctors have is quick, easy, succinct information. I know that’s almost impossible to do at this point, you know, there are thousands of diseases out there, but having a one or two page synopsis for that patient, that disease, is what the primary care doctor wants in order to make sure that when they talk to somebody that they’re not spending an hour trying to figure this out, that they have something very concrete to talk about to make sure they’re effective and they can give good information. But, you know, doing it in an efficient and effective way.

MS. JOHNSON: You know, you’re absolutely right. The current system is set up that way and that’s the way it -- doctors have to work in order to get paid, in order to protect themselves from malpractice suits. So how do we get from here to there? You can't move from here to there with today’s level of knowledge. We just don’t know enough. So what happens is people will, through their own free will, decide to do this. And from what the scientists learn in the lab and what all the schools of medicine -- I mean, there are groups all over the country that are doing really remarkable work and it’s a credit to HHS incidentally that they even thought of having this meeting today. And in the fall in Utah, they’re going to get those communities together that are working on translating genetic information, genetic research into medical practice, and from all those things, we as a society will begin to know different things. And then we can translate that into payment policy and into, hopefully, liability law. But it is a process. And part of the reason electronic health information technology is so important is it begins to build those teams of communication. And the communication between multiple members of a team around this kind of issue is critical to a good outcome. So, you know, what you’re really asking is, how does a society go about making major change? And the policy makers don’t lead change, knowledge and experience lead change. So it is very important for us to do these conversations and for them to have good communication with the government, and for FDA and other regulators not to jump in there and regulate without a better understanding of what you’re doing. But fundamental -- and this is something that really is different about today’s world than it was 5 years ago or 10 years ago or 20 years ago -- the pace of change is so rapid that we have to accelerate the communication between the private-sector and what’s happening in this kind of an area, and the regulators and policymakers because otherwise they will make mistakes. They will regulate this the way they have regulated the world of the past, see? And so if you don’t want that model, then we do have to move. But we can't move without constantly keeping in mind exactly all the points that you have made about today’s world. But I have found -- and when you look at what’s happened in chronic disease management, you don’t see it very much because nobody reports on it. But anyway, the dynamic of the conversation that develops, both in those communities where electronic records are widespread and so you have a team sport here of caring for people, and also, where chronic disease has been the focus, it is a different dialogue. It is a different team. You see this in the big systems of Kaiser and Mayo and some of those. So that does have to spread but this conversation is part of that, and we can never forget the sort of now anachronistic barriers that have been put in place by the old system of illness treatment and by the old liability system that presented a different kind of thinking.

But there was another one down here and then we’ll go over there. Yeah.

UNKNOWN: Yeah, I have two questions. One kind of a more wacky one, one more serious. So you decide which one is which. So why have -- the first question is this: why have academic health centers stayed so behind the private-sector in terms of incorporating genetics into health care, particularly in the areas of risk, early intervention, as we said with the prostate situation here, and prevention?

And the other question, since everybody’s using this nice case studies, I’m going to give another case story for 2018. So Mary (phonetic) goes to a dinner at her boyfriend Joe’s (phonetic) house. She gets there, the young brother is autistic, an uncle that’s there at the dinner had colon surgery at a relatively early age with no symptoms, and there is a second cousin once removed who is bipolar. So they are driving -- he is driving her back home, and then he asks, you know, about the family; she says, “Oh, they are wonderful people. I like your father and mother,” et cetera, “but I’m 37-years-old, I don’t have a lot of time to waste here, and if we’re going to go on dating, I want to see your Navigenics profile.” [LAUGTHER]

So since the sea of Navigenics is here, what should Joe say to Mary? [LAUGHTER]


MS. BAKER: And that one wasn’t the wacky question? [LAUGTHER]

Well, I think that part of what you touch on is this notion that at some point, you know, I think the point has been made here today that at some point out in the future, you know, this stuff is moving along. We will have these sort of insights into, you know, what’s in our genes and, you know, hopefully, you know, if a move was made on colon cancer, it would be because, you know, a physician believed that that was the right thing to do for a -- to do any sort of -- any surgery on anything, obviously involves a physician that requires a thought process that says this is an appropriate step to take.

The, you know, there’s a wide range of, you know, issues that go on, including -- I think back to the prior comment about, you know, the, you know, not only do we have to get people on electronic health records, which still are not uniform and universal in this country, but we also have to develop some of the decision support systems that start to take the information in those health records, combine it with family history, and combine it with genetic information so the decision support systems are in place to be able to give those insights and red flags, or, you know, questions for physicians to know and to think about in interacting with their patients. And so these are all things that have to be put into place. I think the question of what Joe answers back to Mary is much more fundamental and has to do with the reasons why even though we meet our in-laws, we still get married, and it probably falls in the similar bucket.


MS. AVEY: I’m now moved to tell my own personal story, which is very briefly, that according to 23andMe, I have a very low risk of colon cancer. And I put this in the 23andMe blog for what it’s worth, yet I happened to know that I probably have a rather high risk; my father continually has polyps and I’ve been tested a few times, so -- three or four years ago I went and discovered I, too, have a polyp. It was a flat one and it got removed.

So I know for practical purposes, I probably have a 98 percent risk of dying of colon cancer if I don’t continue to get checked and if I don’t die of something else first. And the point of this story and the point of me putting it on the 23andMe blog is what really needs to happen is people need to understand statistics and probability and risk. And that’s really, really tough. The way they’re going to understand it is if you have the early adopters, the people who are really interested, the guys with $1000 and more, doing this now and understanding what it means, which in many cases is very, very little. As someone said, the difference between a 52 and 42 percent risk is - - it’s meaningful but not for the individual because your risk is either 100 percent or 0, but you only know that after the fact. And for people to understand what this does and what it doesn’t do, for them to understand that it’s going to help them probably pick better drugs and better treatments, but that a risk is only a risk, you -- nobody can tell them if they’re actually going to get it or not unless it’s something that’s completely predetermined. That’s really what we need to teach society, and I think the way we do this best is by having these discussions not just among people who already know all this, but in the pages of the New York Times, in public hearings with the state of California, in not just the New York Times but the, you know, the (inaudible) Gazette and in People magazine let’s have some intelligent discussion of the celebrities risks, and then people will be able to apply their own lives just the way they understand football scores. It sounds intuitive when you talk about football, it needs to become that way -- that genes.

MS. JOHNSON: Yeah. In other words, in a new arena, remember what may look like danger is opportunity, so New York and California are opportunity for this industry. Ronni.

MS. SANDROFF: Yeah. I just wanted to say that I think what would really be exciting for consumers would be to get a genetic test and find out that you didn’t ever have to have a colonoscopy. And that there was something you didn’t have to do, and you didn’t have to worry about. And I think people kind of -- that’s kind of the implied promise. It’s not, you know, if you’re just going to find out -- everybody’s shaking their heads who knows more than I do --

MS. JOHNSON: That’s wrong.

MS. SANDROFF: -- so they’re probably -- so that’s never happening, right? You’re only going to find out you have more things to do.

MS. AVEY: No, I think that that issue is that these tests all try to be clear if there’s environmental impact and there’s genetic impact. And that -- I think that’s, you know, one of the reasons we’ve all tried to, you know, present information in a way that helps people to know even if there is a lower genetic based risk, you still need to pay attention to the other risk factors and to the other things you need to do because there’s two pieces to the equation.

UNKNOWN: Speaking off microphone.

MS. AVEY: Yes. Is this on? Yeah. Just two comments really quickly. One, there is some times relatively good news. For example, with BRCA, somebody with a known family mutation and the offspring or sibling does not carry that same mutation, that is really good news. But those are rare and few between in genetics, I understand.

UNKNOWN: Speaking off microphone.

MS. AVEY: Well, they could still, but they won't get the same one that their mother died of. Okay. That’s a big deal.

Unknown: Speaking off microphone.

MS. AVEY: Just the average risk. So -- but the other thing I wanted to say, I was at the U.K. Human Genetics Commission last week on the same topic that we’re all talking about on the voluntary code of practice for direct-to-consumer and I noticed that day in the British press that the first couple in England to have PGD for BRCA had happened. And, I mean, I don't know that that made it in the American press, but that’s a big deal. And that is -- let’s go fast forward on your case study -- where’s it going to go? Well, actually, it will go to PGD.

MS. JOHNSON: Over here.

MR. RACKOVER: Mike Rackover from the American Academy of Physician Assistants. I just think it’s important to -- that when we talk about patient care that we do include nurse practitioners and physician assistants. Our organization, we’ve partnered with the genetics community and the National Human Genome Research Institute to institute education that physician assistants will be educated in the genetics that we’re talking about today.

I also have other concerns here, but we’re forgetting about the other 40 to 50 million people that don’t have health care insurance. We have to balance out the information that you’re talking about today in every day reality of patient care. And we’re moving very quickly into forgetting about the challenge of everyday medicine. The Navigenics -- the type of patients that are now getting direct-to-consumer testing are typically an educated population and it’s a biased population in the type of information that they’re going to get. So, I mean, what do we do for the patients that obviously that we see that cannot afford these type of testing; what do we do with these type of patients? We can't ev -- we write prescriptions and they have to -- they can't even afford the prescriptions that we write. So, I mean, we’re -- it’s a bigger challenge here. And in fact, I realize the importance of what we’re talking about today, but we’re still forgetting about the everyday population that comes to see us.

MS. JOHNSON: Yeah. Yeah. Don’t forget, though, that currently risk does drive payment policy, so we pay for mammograms with women with a history of breast cancer in their family and some other things. I mean, it’s very embryonic, you know, and it was a different kind of analysis at risk, but the more you begin to know about genetics and the more the testing turns up more increasing the uniform results, I mean, that will reflect itself in payment policy.

MR. RACKOVER: But my specialty was oncology. When we first started evaluating patients that have cancer, it was obviously imaging, x-rays, CT scans, MRI. Now every patient gets a PET scan. So we’re now spending $5000 to $7000, $8000, for every time a cancer patient is diagnosed. It’s -- there’s something wrong with the system. Nobody questioned the fact of the integration of radiological imaging in the treatment of cancer -- or evaluation process. Here, we can't get passed genetic testing. The, you know, we’ve been spending years sitting -- hearing all these committees being able to talk about genetic testing and the treatment of cancer certainly has moved to the cost of what it costs for cancer, it’s huge. But we can't do basic genetic testing.

MS. JOHNSON: but in those numbers of years, we have learned a lot about where the costs are located in the system, and if we could begin to weed those out and move them and use them -- use modern science to move us forward to -- so -- it’s not hopeless, but I’m -- I certainly recognize that today’s system doesn’t differentiate between appropriate care and inappropriate care or needed care and unneeded care. (Inaudible) --

MR. RACKOVER: Another thing, we have to pass a law. We have to pass a law to basically get some type of preventive testing done.

MS. JOHNSON: Well, it shouldn’t be that way. That is the way it’s been, but see, as you -- and if you develop a health system, it won't have to be that way anyway. I won't -- we have an illness treatment system so then we have to make special provision for prevention. But as you change the laws and the systems, you can get away from that.

MS. JOHANSEN: Can I just make a --


MS. JOHANSEN: So I -- can I just make a quick comment about a few of the questions that I have heard?


MS. JOHANSEN: I think there have been some really related questions, and Rocky’s question just sort of brought it up again. And that’s that, you know, there’s a question about why there is really slow uptake of genetics in some medical centers and there was also a comment by a physician saying that they’re very time constrained and don’t have time to do this. And I think some of these questions are actually --

MS. JOHNSON: (Inaudible).

MS. JOHANSEN: -- answering each other. I think there’s been very slow uptake, number one, because physicians don’t have time to add -- especially primary care physicians, are so time constrained and don’t have time to add another, sort of, fancy, new test to their limited five minutes with patients, and are not going to do that until they see evidence that that test actually impacts clinical utility. But that evidence isn’t quite there yet; there might be some hints that that evidence is there, but until that is really shown, I think that might be a shove in the right direction for physicians to start using that information -- the genetic information. And so I think Rocky’s point also about, you know, who’s going to pay for patients that don’t have health care; that’s another question that physicians have to confront when they’re -- when they think that a genetic test might be appropriate for their patient. How are they going to say to their patient, “Well, I think you should get this test, but it’s going to cost you $500 and I don’t know where you’re going to et that money.” That’s another reason that I think there’s been some slow uptake.

MS. JOHNSON: What about medical education? You certainly have a hand in that from the AMA. Do our medical schools even -- are they even training our doctors in how to use this information?

MS. JOHANSEN: That’s a question. Right. The - -

MS. JOHNSON : The answer is pretty much no, isn’t it?

MS. JOHANSEN: Right. Well -- there are movements. Right. I mean, there are movements in some parts of the health care world, like the physician assistants and the nurse practitioners have been very good about integrating some genetics education into their curriculum. But medical school education is a bit harder to crack. The exams, the qualifying exams, and on other exams that are along the way are set very far in advance and it’s hard to change the questions on those and because it’s hard to change the questions on those, it’s hard to change the curriculum that is taught in order for the students to be able to answer those questions. And that is absolutely something that needs to be addressed.

MS. JOHNSON: We can change that if we choose.

UNKNOWN: I’d like to make a series of statements and see if the panel would like to comment on. It’s sort of like a sweeping generalization of the field of personal genomics, and see if you all agree with my assessment or not. And I say that with passion because I don’t want the field of personal genomics to suffer the same fate as total body scans had a few years ago when, you know, there was a craze, people went in, they had all kinds of procedures -- some of them necessary, some of them are not. We’ve heard some anecdotes about the usefulness of this information both good and possibly not that good in terms of the potential harms and benefits.

And so the way I look at the field right now, it’s in a state of flux. We’re in this teachable moment where what we need to do in addition to discovery research of finding new genes and genetic risk factor, is to do the translational research to allow the kind of -- that kind of information from both clinical validity and clinical utility perspective to be shown, you know, the balance of harms and benefits, do the clinical trials that need to be done. Unfortunately, this will take time and it will take money to do it. But we’re already spending billions of dollars to do the $1000 genomes and, you know, if the public and the private-sector can come together to do translational genomics and in the sense to allow us to do the kind of research that shows really the added value of genetic information in a health care delivery system that is already crumbling under it’s own weight, I mean, we might be suffering the same fate of other new technologies. So, I mean, that’s sort of a plea that I have. I don't know if people agree with that assessment.

But in the meantime, clinical validity is low because it’s probabilistic information, no matter how many new genes you add, it’s still going to be, you know, 51 versus 47 percent. And it could be misleading, like we’ve seen, because some information is not in the genome so the -- we need to look at the benefits, sort of, the balance of harms and benefits. And we all think that there could be benefit that will come out of this, but there could be some real harms, especially if implemented on a population basis.

MS. JOHNSON: Comment?

MS. JOHANSEN: I don't know where you draw the line in terms of determining when this technology is available for primetime, but I do think that if you offer it prematurely when there’s a lot of flux and a lot of variability in terms of what the results might mean, then you stand to lose being able to get consumers to buy into the technology. So if you use the information prematurely and you get a lot of results that change pretty dramatically over the next five or ten years, then people are going to start to think that this is not good technology and they might not use it in the future when it is good technology. So I think that’s my cautionary note, I think, and it goes along with what you’re saying.

I mean, right now is probably the time to build the infrastructure, find out what the questions are -- I’m not saying, “Don’t do it,” but people need to know what they’re getting into and what the limitations are, and it needs to be presented in multiple different ways because even if you think that you’re presenting information in a way that suggests that it’s probabilistic, numeracy in this country is horribly low. So you -- we just have to be very careful in how we proceed, and I do think that we need to keep in mind that if we lose consumers -- and when the promise is met in the future, they might not want to use this information. And that would be a tragedy because I think in the future this information will help cut health care costs, will help us target health care, and there is tremendous promise.

MS. BAKER: I want to just add a note on that too, which is, it’s a little bit of this, you know, discussion of, well, how can we make this more accessible to people? But yet we’re not sure that broad populations know how to deal with statistical data and make these tradeoffs. So one might argue that for right now, having these services be at a relatively high price allows the opportunity for, you know, learning and knowledge and education among an educated audience who is paying for this out-of-pocket. And for, you know, for us to be able to learn these issues as we move along, and I think, you know, one of the things that was pointed out earlier is, you know, an example of somebody having taken multiple tests from the three different services and getting different answers. Well, it’s not that people are calculating things differently, which is certainly the case, but underneath there, you know, right now people are using different SNPs to determine, you know, results for a condition. Those things clearly need to be standardized.

And, you know, the ability to be able to look at this information and see these differences enables us all to work together to come up with these industry best practices and to be able to move forward on this. You know, I think that, you know, the question on the translational genomics, we would love to see that funded.

We would love to see that worked on. We would love to see the clinical studies done around all these points. But we shouldn’t forget that medicine changes, as well. You know, it wasn’t that long ago when in some case -- right, doctors were advertising to -- in smoking ads, right, for cigarettes. And look how long it took us to decide that smoking was actually bad for you. You know, it took a long time for mammograms to get reimbursed. You know, it takes -- some of these things take a long time, and medical knowledge changes, science knowledge changes.

It’s something that’s a fact today and will continue to be the case with this. This makes it more transparent, this, you know, these sort of services help people keep up to date, you know, with this information. And, you know, that’s -- you know, I think there’s a value in that for people to know that, you know, there will always have the latest rather than being subject to things that might be 20 or 30, you know, tested, or 20 or 30 years old and haven’t been updated in time.

MS. JOHNSON: The best protection against that danger, which is real, I would say, is for the private- sector and the public-sector to work together more aggressively than we have in the past when new things came forward, and in a more kind of intelligent fashion so the industry, if they have any sense, won’t indulge in an explosion of direct-to-consumer advertising, particularly until the -- I mean, we use the New York and California experiences as an opportunity, an opportunity to talk about what they’re doing, an opportunity to work together to get more standardized tests and talk about the need for that. You know, transparency and openness and directness will save this industry, but if there isn’t that kind of openness, it well erode trust and it will all -- I mean, we’re talking about -- among enlightened people, we were talking about the top level of consumer users. Not only can they afford the $1000, but they’re interested and they care about their health for the most part. But if you talk -- remember all the people out there who would be panicked if they knew they had any propensity, any risk whatsoever toward any serious disease. And we aren’t prepared yet to differentiate between levels of risk. So there’s a lot of public educating to do, and what could be a better forum than the two biggest states in the nation at each end of the country as a way to talk about this and begin to think publicly -- help the public think through what do you gain and what are the risks you take? And unless the private-sector better understands this issue of public education, then in today’s world and with it’s, sort of, volatility and the simplification of messages that’s typical of every kind of media, we will lose the opportunity in this area and it won't come back for five or ten years. So we have time for one more question; I’m being signaled. Is there -- there it is.

UNKNOWN: Speaking off microphone.

MS. JOHNSON: Well, two more if you’re short. We’ve got five minutes.

UNKNOWN: I’ll be quick. Well, it’s about medical education, so, some data. Through the end of 2005, 15 percent of medical schools, as reported by their deans, said they teach no genetics. And of those who teach genetics, 17 percent teach less than 60 hours throughout the four years of medical school. So you could argue good, bad, or indifferent, but the key piece is what Mari said, which is it’s a changing field. And one of the key issues that was meant as I understand to deal with the changing field is continuing medical education. And 48 states, I believe, have CME requirements on a regular basis. Over the last ten years one of the key things that I’ve -- AMA and others were involved in, is requiring most states have 5 to 10 percent of those CME hours have to be on risk stratification, to look for abuse or other challenges in the home. So what about the idea of using - - and I clearly have a point of view here, but the idea of using this CME process as one that acknowledges that the world is changing so we can't teach everything, you know, in four years or two years of medical school and expect those physicians to be up to date 10, 20, 30, 40 years later, but using a system that already exists with potentially some requirements around a percent of that is on genetics or emerging technologies, so -- because as I look at -- I guess this isn’t short -- but as I hear something that came up on every panel today, it’s doctors today, health care providers starting with physicians, need to be able to lead the way because whatever you get in a personal genomics, you can't do your colonoscopy yourself. You can't write the prescriptions for the most part; you need to go through your physician. So one organizing issue that I saw is that we need to educate our providers in a better way for any part of this industry to become fully transparent.

MS. JOHNSON: (Inaudible) so many other things, we know more about this than we think; Marshfield is a big system, they do translational research, they -- every year they set aside a day-and-a-half for the education of their physicians and what they’re doing, and I’d be surprised if some of the other big systems don’t too. So we could inject that into the medical schools more rapidly, if we cared to.

UNKNOWN: I just want --

UNKNOWN: (Inaudible).

MS. BAKER: -- one comment on that because I think that’s exactly the right point. And, you know, we have attempted to make a tiny step, you know, in that direction. But that one tiny effort -- I think that the results are emblematic of the interest and gaps that exist in this space. So we funded Medscape to create a CME course in personal genomics and in clinical practice. And, you know, they went out, found somebody to develop the course, and I think it’s 25 CME credits, so it’s not huge, but it’s, you know, reasonable, it’s something. And in the first -- so I have data through the end of May and it went out I think in late -- like the last couple days of February, so -- March, April, May -- three months of data. Over 5,000 Medscape members, health care professionals, read the course, and 2,500 completed it for CME credits. And I, you know, it is acknowledgeable a very small, simple first step, but I think it shows the amount of interest among health care professionals in absorbing this information, learning about this information, and I think a lot of the benefits of an online venue, too, and make it easier for people, which Medscape is, is an online venue for taking -- getting CME credits, to be able to have access and get that learning in the time they have available.

MS. JOHNSON: Excellent. Last question.

MR. MILLER: Just a quick question. My name is Paul Miller, I’m a law professor and a professor of disability studies at the University of Washington in Seattle, and also a member of the Secretary’s Advisory Committee. I wanted to jump in to sort of a side conversation we had a couple of conversations ago about PGD and sort of where all this information is going. I think one of the underlying -- and sort of put on the table -- an issue; the underlying, sort of, assumption with all this information is that information is good and that people that we’re talking about conditions that either today or in the future, somebody can do something about, that these are sort of health outcomes. There’s another perspective from the disability point of view that people with disabilities -- that parents are going to -- or others -- are going to begin to look for genetic anomalies, genetic disorders, and sort of, take those out of the system to basically use PGD, to use these genetic markers to eliminate people with or to reduce pregnancies of people with disabilities. And I think that that’s something that both the genetics community, the physician community, and others interested, really need to be sort of aware of and to sort of think about the impact on people with disabilities, both as members of society, the move of and support of social services and government services to disability programs and the relationship between PGD and genetic anomaly identification, and pregnancy and birth. I think it’s an important issue and I just wanted to put it on the table.

MS. JOHNSON: Thank you. And thanks to our panel for bringing their rich experience of consumers to the table as we conclude this panel -- this day’s -- this half-days discussion. Thank you very much for your past work and your continued contribution. [APPLAUSE]

View full report


"doc es.pdf" (pdf, 39.8Kb)

Note: Documents in PDF format require the Adobe Acrobat Reader®. If you experience problems with PDF documents, please download the latest version of the Reader®

View full report


"agenda.pdf" (pdf, 24.1Kb)

Note: Documents in PDF format require the Adobe Acrobat Reader®. If you experience problems with PDF documents, please download the latest version of the Reader®

View full report


"transcript.pdf" (pdf, 296.07Kb)

Note: Documents in PDF format require the Adobe Acrobat Reader®. If you experience problems with PDF documents, please download the latest version of the Reader®

View full report


"bodhaine.pdf" (pdf, 393.36Kb)

Note: Documents in PDF format require the Adobe Acrobat Reader®. If you experience problems with PDF documents, please download the latest version of the Reader®

View full report


"phelan.pdf" (pdf, 346.22Kb)

Note: Documents in PDF format require the Adobe Acrobat Reader®. If you experience problems with PDF documents, please download the latest version of the Reader®

View full report


"gulcher.pdf" (pdf, 66.33Kb)

Note: Documents in PDF format require the Adobe Acrobat Reader®. If you experience problems with PDF documents, please download the latest version of the Reader®