 Toby you're on you got a tough act to follow I was going to say this is a double challenge being one of the last three barriers to dinner in addition to following read tux and in addition to following read tux and all I can say is I'll do my best and I'm also a friend of Mark's and and a fan of Mark's and a mayor of Mark's and and when he called me he told me a little bit about this group I think I may have misnamed it on the title slide but most importantly he told me it was a group that in particular at this meeting wanted to hear multiple perspectives from different components of the health system on medical genetics and would appreciate me saying a few things about what public health expects from medicine as public health moves forward using genetics to accomplish public health goals and the mission of public health and it struck me as being very consistent with what we in public health have been using as a framework to consider the public health system you just will call it the health system which is a number of sectors that have to work together in order to make effective strategies like genetic genomic strategies to improve the populations health and prevent disease these being the health care delivery system governmental public health community-based organizations employers and employees the media and academe ideally working together so what Reed Tuxin said about the fact that we all need to find ways to work together certainly resonates with that framework it seems to me as if there's historically been and is increasingly becoming a closer relationship between public health and medicine as we each find ourselves more dependent on on each on each other for accomplishing our objectives and genetic seems to be a technology that especially calls for that interdependent relationship we in public health can't accomplish public health goals with genetics except if medical care in the medical care system applies genetics in their applications by the same token I would submit that medical care cannot be a can not assure itself that what it does in utilizing genetics will in fact improve the health of populations and reduce health disparities without the full cooperation and connection with public health and that I guess is the main message that I would like to bring to the group today in terms of our own role in applying genetic technologies genetic knowledge genomic knowledge we are prone to take everything we do and put it into the framework of core functions of public health that were first enunciated by the IOM future of public health report back in 1988 and that is assessment policy development and assurance so using our so-called mother science of epidemiology we carry out surveillance we gather continuing data on the frequency the prevalence the incidents of genetic related diseases and conditions that relate to genetics and genomics and make use of them in developing our own policies by the same token we carry out risk assessment of populations and with family health history are starting to incorporate genetics in how we assess risk and then turn that kind of information information over to the medical care system to deal with in the case of policy development we we adopt and develop and support various programs such as screening programs utilizing genetic knowledge going back to newborn screening historically we provide and and urge the provision of both patient and provider education in genomics and we try to adopt policies that create a an interface between what we do and what the medical care system does and finally with respect to the third of our core functions assurance in addition to assuring the access to our own programs of screening as an example it is the concern of public health that the public at large has access to medical technologies that have proven their efficacy so everything that's been said today about effectiveness comparative effectiveness certainly resonates to our desire to make sure that access to effective technology is spread among the population each of our uses of genetics of applying that framework of core functions necessitates linking with the medical care system if we are to carry if we are to carry out epidemiologic studies on the impact of genetic conditions genetic profiles on the health of populations we need data from the medical care system by the same token if we gather information on individual risk through tools such as family health history we depend upon medical care to know what to do with that in information when a patient brings a family health history to a physician our efforts to develop policies and our efforts to educate the public patients and providers need the cooperation of the medical care system if there to be effective and certainly our efforts to assure access to medical care using genetic technologies needs the cooperation in support of medical care in those efforts Mark suggested that in sharing comments with you about the public health perspective I draw upon several projects that we in our Center for Public Health and Community Genomics at University of Michigan projects that we've been very much involved in along with the Center for Disease Control's Office of Public Health Genomics and its director Muin Kuri and the first of these which occurred three years ago was an initiative that some of you were involved in called GapNet genetic applications in practice and prevention which has been a continuing attempt that the Office of Public Health Genomics has had to form and support a large network committed to accelerating and streamlining the translation of genetic research into evidence-based applications in both clinical practice and public health certainly almost everything that's been said in today's meeting fits into that goal of GapNet. More recently last year we carried out an extensive stakeholder consultation from the public health sector in the public health sector to get people's opinions on what should be the leading priorities to advance public health genomics in the next five years and currently we're working with the Office of Public Health Genomics on a conference an invitational conference that's going to be held this September which has now been named and I have to read it because of recent name new strategies in public health genomics actions to save lives now trying to incentivize public health departments to utilize what now has evidence as public health strategies that can save lives again necessitating the cooperation with the medical care system and I'll get to those those applications in a moment. In assessing what public health professionals think about the promise of genetics in public health in serving public health goals we find that most public health professionals categorize these technologies or if you want to look at the rapidly expanding amount of tests screening programs categorize them into three categories there's the historic use of genetics in screening through newborn screening programs which every state health department is involved in and typically operates then at the other end there's a wide horizon that we look at a broad horizon that we look at in terms of the promise of genomics to revolutionize as some of us speak of public health as increasingly we in public health as you in medical care have available to us more and more information on individualized risk for disease we traditionally don't deal with that individualized information we're a population oriented enterprise but as we are able to learn more about individual risk what do we do about that how do we regulate the workplace when there will now be increasing information about variation in risk to various workplace exposures so these are the sort of broad futuristic if you will ways in which we look at public health and genomics from our perspective but then there are several technologies that we now have available to us that can save lives and CDC's office of public health genomics is in convening this conference in the fall has is has identified three technologies as to which there is sufficient evidence to know we can satisfy public health goals by saving lives now and these are hereditary breast and ovarian cancer and of course that being linked with family health history utilization lynch syndrome and the utilization of cascade testing resulting from diagnosis of colorectal cancer and lynch syndrome and familial hypercholesterolemia also calling for cascade testing where there has been a diagnosis of that condition and the office of public health genomics has come up with the statistic that if public health is able to advance these three types of programs effectively we will save significantly more lives than are saved through all of the newborn screening programs in all the states each year so these are technologies that we feel are in front of us now they might be considered the low-hanging fruit of public health genomics the CDC has also created this multi-tier way of categorizing screening and testing and you've seen this list with net colonizers presentation so I'm not going to repeat it again other than to say that it is the tier one evidence-based applications that CDC's office is now working on with the public health community leaving tier two to inform decision-making between physicians and patients based on the context the clinical scenario if you will and the evidence to date and public health does have a role to play in trying to assure that little if any resources are being applied to the utilization of technologies screens tests as to which there is insufficient evidence of an impact on outcomes the so when one looks at the these low-hanging fruit what many of us would like to see us concentrate on now that can save lives what are the expectations from that we have from the medical care community I've put them into four categories with the acronym PEP practice education policy and partnership in terms of clinical practice if there will be effective implementation of programs that utilize family health history for testing of BRCA one and two genetic profiles if you will public health needs to be involved in encouraging the population at large to have their family health histories taken to utilize tools such as a surgeon general's family health portrait it needs the cooperation and connection with the medical care system in order to assure that these family health histories are utilized appropriately by the medical care system and of course efforts that we are both engaged in public health and now and the medical care system to further the integration of family health history into electronic medical records and and connecting them in turn with decision support tools this all needs to come together if this particular technology is to save the lives that it can save by the same token lynch syndrome testing utilizing cascade testing in order to start with a diagnosis of lynch syndrome and utilize that in order to identify family members who ought to be tested for lynch syndrome with resulting medical care interventions where there is a positive test this is the kind of technology that needs both public health in organizing these programs on a statewide basis if you will at the same time that it needs medical care starting with the diagnosis initially which occurs in a in a medical setting now both of those technologies happen to be the sum total of recommendations made in the healthy people 2020 report that relate to the use of genetic technologies these two in addition the first of these is the one recommendation that also has been given the sort of gold standard imprimatur if you will of the U.S. preventive medicine task force the third of these low-hanging fruit if you will that we need public health and medicine to connect together on is the the the application of cascade testing to those who are diagnosed again initially by the medical care community for familial hypercholesterolemia in connection with with the the patient doctor relationship and to move from that diagnosis to identification of family members and tests of that genetic profile among those family members and if we can do these three kinds of connections between clinical practice and public health we can save an awful lot of lives each year with respect to education we need to work together certainly on provider education you all knew that know that many of you work on on projects of that type some of you are active in nitchpeg the the prime organization the lead organization to to further genetic education among health professionals including medical professionals but we have much to do together in terms of informing the public at large and patients as a subset of that population on just what genetics me and how the genes within us relate to the environment outside of us we do a poor job at this point in public health in enabling the public to understand how on the one hand we can say that health disparities result from social and and environmental factors while at the same time the public reads increasingly headlines and articles about genetic causes of those same diseases and how these multiple factors intersect relate to each other and need to be studied together is a task that seems to me we we both have together and by the same token the utilization of professionals such as genetic counselors is something that we both need to do a better job at medical professionals need to know at what point a patient needs the intervention of a genetic counselor in making these tough decisions on whether to test or not how to share and with whom to share information resulting from those tests and by the same token it is part of the task of public health to let the public know about the availability of genetic counseling when people are troubled by these kinds of of questions and have to make these kinds of decisions in terms of policy development we both need to work together both sectors on speeding up this translation pipeline and there are several of you have highlighted that starting from Eric Green with his left to right slide in an ordinate amount of our resources is continuing to be placed at the left end of the scales again morning query several years ago wrote an article dividing the various the various stages of translation from T one to T four at the end needing the increasing amount of funding of research on what is it isn't effective again something you all been talking about jointly we need to be arguing for not necessarily less money for basic research but certainly more effort being placed at that right end of that continuum so that we have more information used in ways that you've all been talking about today we need policies that support the integration of genomics into medical education we need integration of genomics as I mentioned earlier into electronic medical records and decision support tools and we need to support public health in utilizing genomic tools together with the medical care system these are some of the policy tasks it seems to me that we all have before us and it would take all of us together hopefully with a slice of the public at large to get these policies adopted and to get these activities and these functions sufficiently funded and I cannot overemphasize another policy area that we have to work on that very little has been said about at this meeting so far two of you very recently use the term health disparities in your talks but only two of you genetics as I teach my students and as many of us have written about is a two-edged sword with respect to health disparities it can be used in ways that simply develop increasingly high-priced technologies available to the medical haves and not available to the medical have nots or it can be used in ways that actually help us address those diseases that are mainly responsible for health disparities and if those tools those interventions are applied equitably can do an awful lot to reduce health disparities and it seems to me that all of us who work in one way or another on advancing the knowledge of these technologies and the application of them have a moral responsibility to be involved in efforts policy efforts largely to make sure that genetics is one technology that is not going to widen for further this growing gap in health disparities in the United States finally there are a variety of partnerships happily that have been formed that are increasingly being formed to connect the various sectors of the health care system together in order to improve the populations health certainly your group and the people you have invited into your conversations your deliberations that is an example of this kind of a partnership the the leadership in genetics and chronic diseases in state health departments have in recent years convened groups that connect public health medical care labor Torian's epidemiologists legal experts maternal and child health professionals chronic disease experts along with public health professionals a number of coalitions have been formed dealing with cancer and heart disease from a genetic standpoint and many of the national professional and disease related organizations that many of you are a part of represent these kinds of partnerships and I need to separately mention the work that's being done by the genetic alliance which I'm sure you all familiar of on behalf of patients and increasingly on behalf of the public at large spreading out information nurturing these kinds of partnerships and providing the kind of tools that enable patients and the public at large to connect with both public health and medical care so those are a few of the comments that we have drawn from the people in public health that we've discussed genomics in particularly public health genomics with and be happy to hear your comments and entertain any questions thank you Debra so in talking about disparities from a laboratory perspective and I know we're looking at public health perspective but one of the things that would be extremely useful is having reference genomes from different race ethnicity groups and I didn't hear that mentioned in the sequencing group but it would be very very helpful to have that I appreciate that comment it suggests that in your deliberations and in your working groups you might consider among what might be thought of as cross-cutting goals how what you work on might have an impact positively or negatively on dealing with health disparities addressing health disparities in the country and that would be a service that you'd all be providing to to to the country at large and that's a very good recommendation and one specific way you could do that I have a comment that may or may not be it may or may not be out of place but I'll make it here because you had on one of your slides the the idea that that HIV HIV screening on a public health or a population basis was was a tier three effort in the in the Emerge Network we've we have the opportunity of looking at HFE genotype people people people who have been genotype for something else in whom we happen to acquire HFE genotypes for the heck of it because it's on a lot of the platforms and what we have found in our own group and I think this probably represents what goes on in other places is that there's a small group of people who are homozygous for the common mutation who who don't carry the diagnosis and yet who have clinical features suggestive of it and a small group of those people are actually being treated with iron which is totally inappropriate so it seems to me that we're at this point where you could say well let's go out and prospectively screen a population that's not cost-effective but what happens when you have the data anyway so it relates back to all the conversations that we've had all all day today the metrics the calculus may really change I'm not I'm not arguing with putting it on tier I heard in the last conversation we need to generate some evidence but but it really sounds like we're in a different place mark I'll just and I'll just add one perspective I think I think it really relates back to that to what I'm taking away as a key concept which is we need to stop thinking about this is as being technology focused and think about this in the context you just to find a beautiful context of how this could be highly useful which is you have a genetically screened population you look for homozygous and then you look for evidence in their medical record that they're that they are either on a disadvantageous treatment or they have clinical signs and symptoms that you can detect and then you can apply that in a group that is appropriate to apply it and and that's a clinical context utilizing a technology as opposed to a technology being deployed irrespective of a clinical context and I think that that's where the intersection between what we're doing in the clinic and then a public health perspective which is to say okay if we can actually demonstrate that this has benefit in this specific circumstance in three health systems then does that raise this up to a priority for a public health approach as we move into the idea that more and more people will have genomes so that response sorry am I hearing other comments