 First of all for full disclosure of everyone in this room. I know the least about genetics I just hang out with geneticists. Okay, so don't push on that and I look at all this through the the Lens of oversight and IRB and escrows and those sorts of things, but I do hang out with a number of you It's been a little daunting listening to some of the presentations yesterday and today on how well the panel pearls panel is Going to address this and yeah pearls panel to get to that. I hate to disappoint, but Our panel is Irwin David David and Dan. These are the four smartest people here. The rest of you failed and What I'm going to do is just start us off with a few comments and then actually David Chambers is going to go second because he has a another meeting he has to go to so That this was a title obviously and I put up here the little style and I think that you know Not only the political environment, but things are very polarized and I think we everyone here needs to sit back and realize how polarized and What I was doing early on Echmo therapy, you know one of the very smart man said to me Okay, the difference between clinical care and research is you get paid for doing clinical care and sued for not doing it But this research you don't get paid for doing it and you get sued for doing it And I think you know this is obviously way too black and white, but I do think it's important to sit back and say what are the boundaries? I mean we're talking about navigating who are the boundaries? I think first of all purpose You know research is not for the individual And in fact, you know your decision-making is to get group data Not for you know me proliferation whereas clinical obviously is individual Focused I think as an aside pediatricians make great geneticists because it's a family much more than it is just the you know The child the type of information and again, this is very being very black and white and I realized reality is more in the gray But research data discovery. It's interesting. It's not yet ready for prime time is the usual response to that clinical I think clinicians Probably are overly accepting that what they what they're receiving from labs is truth But they do have this concept if I get a blood sugar of 300 something's wrong whether I'm in Boston or Detroit something is wrong I know how to act Rules of engagement When research it's an add-on you do have some degree of oversight be at the con the IRB This is either you can do the common rule if you're doing an FDA regulated product FDA regs I'll be able to determine whether or not you need consent or if it's a waiver situation Whereas opposed for research or for clinical care. There's been a lot of comments regarding consent We do not get very much consent at the end of coming into the hospital and promising you're gonna pay There's oftentimes a little thing. Yeah, they can do things to me and oh by the way if there's leftover tissue You can photograph it and doing this and that Some clinical procedures we get consent for My favorite is our surgical consent. We're just you know They just told you how you if you don't die from the surgery you're gonna die from the anesthesia and oh by the way if there's something Left over can we use it? So I don't think we really have a robust System for even getting clinical care and it's a huge variety between institutions The other issue are the people who live on the different sides. We have extreme researchers who? Don't even know that blood comes from a person I mean I can't begin why would any care wouldn't care. It's just blood. It's just Dean I mean, it's you know, believe me. We get these We also have I think a very large and growing population of people who are the extreme of clinical care be it clinicians be it payers be it Your medical record IT people and certainly administrators who often have very little if any training in what research is and They can recognize a researcher through binoculars at a distance, but they've never met one and Luckily, and I think where we have to focus are in the straddlers These are not scratch stragglers. They're straddlers And I suggest any of you Google a picture for straddling and it's really this porno sights I tried but that's why you got the style in the fence. I couldn't find one So a little bit more on the inhabitants the extreme researchers what we are being told is Whether or not you like it this stuff is coming. So just get ready that's kind of the feeling that clinicians are having and Even sitting here, you know, just get over it. These 10 things are just ready. Just get on and use it Well, why isn't it being used? Oh, well, I'm not really sure But I think the reason the picture that a lot of people have in their minds of you folks is this There are you guys creating also incredible data, which you're so excited about you have these expected results and oh by the way We're up to our ankles and incidental findings, which may also be very exciting deal with it Not fair, but I do think I'm one extreme that is pushing a boundary on the clinician side Again extreme clinician. They're seeing this is total over promise Um, I love this term researchers are victims of errors of enthusiasm. I Can't tell you how many oh wow's we have coming in from investigators. I just found this I have to inform everyone You know asked about four questions, you know, what's the penetrance? What does it mean? What is this is like? Oh, yeah, maybe I'm not right and you know off. They scurry back until the next week A lot of us, you know have friends and we say so you know what? Do you think Janice is ready for you know coming into the clinic and everyone says oh? I have all these friends and even they don't agree. Well, they should have been here. Listen to you guys You don't agree and the issue that any finding is too fluid You know finding today tomorrow you say oh you need these other four variants to really make that be effective So I think all of these things kind of go into the concept that the data is not ready for prime time So don't bother me And then clinicians too many other problems We talked a lot about it support for getting this in and I think it's incredibly important Our clinicians cannot have a single it system where they can find an x-ray and the ER visit data in one place So the idea of bringing in whole genome sequence, you know, you got to be shitting me. I'd rather find the x-ray Okay, except where except Dan has that but everyone else doesn't okay Yeah No, but I think it is the concept that you know not only within a single institution and Lord knows partners is kind of like the Balkanized Soviet states with walls around each institution But it's also our mobile patient population We cannot find everything and I think and another thing of making the quote patient very responsible That's a whole different approach to medicine, which I mean we can't just say you're in charge your whole genome You know, it's your DNA here hold it. We don't ask them to hold their blood pressure You know, are there data or there? What was your last blood sugar? So they're the blood type. Yeah, but we keep redoing it So I think you know, that's another thing you have to think about and I think a lot of clinicians will say when I have to do it I will be told it'll be a mandate from somebody. I Also think interestingly, I think the public is more enthusiastic about this than our clinicians I don't think the whole public, but I think both direct to consumer Genetic testing. I think a lot of the press. I think some of the over promise does actually make the patient population More enthusiastic So when we talk about the boundaries, I think obviously important we need a loop It's not just getting stuff from research into the clinic But it's getting the outcomes in the clinic back into the research And I think if we don't have this whole loop We're just gonna you know a lot of the ideas can be dead in the water So I am proposing that we need more straddlers. I think we need researchers who can Talk with go to Christmas parties with clinicians who understand how does stuff get into the clinic? What is validity be it analytic or clinical? You know, what is utility? Recognize clinicians as more partners rather than someone who can draw blood I think clinicians obviously everything I said in the other direction I don't think we understand how clinical systems adopt new technologies and while I think this is a humongous Technology to adopt. I think we need to better understand how why are all systems coming at this differently the IT systems? I mean, there's not enough IT specialists in the world to do this But I think we do need a system that can capture the data We want if it's I truly think you need a single system that can have both clinical and research information But that somehow respects it and I think a number of comments were made here before that as soon as it's on the medical record side That goes to whomever can get the medical record ie your insurers What do you do with the patient or the individual who says I don't want anyone knowing I was in this research protocol? We have a few of those You know, do you say sorry, but it's gonna be there anyway So I think the IT space needs a lot of work and I think we need to better understand how payers endorse new Stuff so to speak and I think we've had some illusions to insurers etc the public I Think we are in a very weird time right now with the public and some of these are quotes. I've heard here a Lot of people are saying why do those IRBs always insist on all those? Consent forms are every time there's a new thing another consent form and my patients are saying just use my stuff You're harassing me with all these consent forms. I agree. I think that's probably 85% of the population They you know, they want to help they want to be good citizens and here use my stuff but there is I think an increasing what I call more egocentric model and I think the Activities that have supported this have been the have a soup by situation The Henry had a lax more life Henry had a Henry had a lax book that came out and look what's happening with neonatal blood spots Not exactly good citizens of the world approaches certainly with the blood spots. I Think we are seeing increasing number of Participants again, I don't think it's the majority But I think it is a growing group that want to control not only how their stuff is used but who uses it We have unfortunately our biggest area of Subjects saying no at least in terms of banking and data use is they don't want to share anything with the federal government So when we put in the GWAS piece and say oh by the way, it's going to be coded and sent to the feds No, I'm not going in that is our most common There's the expectation of return of research results. We have some who want the hard data Again, and again, that's not new to genetics But it certainly is the amount of information coming in is making it a more bigger issue and they want payment You know you have my DNA. What are you going to do with it? What if you make a million dollars from it? I should get that if you haven't read the immortal life of Henry had a lax by Rebekah sloot You really should in that in there is there's one of the concepts that gets addressed is you know If you get specimens from a thousand people and only one of them actually was that the oh wow from which you can make some kind of Product to make a huge profit does that person get the million dollars to do all thousand get you know a buck fifty and I mean these are discussions that are going on And I just had to say a few things on the regulatory and this is my last slide But the common rule which is the rule that tells IRB's how they have to work was written in the 70s And it suffers from incredible time warp And there is this advanced notice of proposed rulemaking which came out this summer which is attacking it at a Kizillion in a number of ways and I'm not sure what's going to happen with this for the you know You do an advanced notice and then everybody comments it got over a thousand comments many of them I sure were two words, which I won't quote here Many were I mean we send in 50 pages of comments I mean this is advanced notice was so inclusive of so many details They then will have to come back and give a notice of proposed rulemaking which will then be open for comment And then it could potentially go to actually be a rule We have heard from some folks that the initial goal was to get this done before the presidential election Which I think that I personally do not say I think it's too rapid a time span But if you have not looked at this really do talk to folks in your institution for genetics one of the two of the issues that are a particular concern I feel are Identifiability of tissue they make the statement that tissue is identifiable Okay, well that does change things HIPAA so far says tissue is not identifiable unless it's linked to the information It will not take HIPAA long to realize this one and this opens up a whole new world The other issue is that they are proposing a requirement of a new mini consent Which is supposed to be very very short consent, but that will be required before you use data or tissue Now for us I can tell you we have a Large number of research protocols going on under which we have waiver of informed consent In other words the IRB if you if there are particular criteria that are met. It's not practicable It's you know less than minimal risk. You can say okay fine. Go ahead. We'll waive informed consent Not doable Tissue because it's not well identifiable no longer. Can you say well just get de identified tissue specimens and go and have a nice day? Not possible So if this actually were to go through in the way it currently sits it would be a huge change Require huge changes for all of us And anyone who wants to know more about this later be happy to tell you they do one good thing, but that's it Lack of standardization between the common rule FDA regs and HIPAA We have to work with different definitions of identifiability There's others also Lack of guidance from the feds on quote genetics This has really driven IRB's nuts in that there's a you know a cacophony of opinions both from our geneticists and from our basic researchers in terms of Return of research results what to tell what not to tell and then add to this the fact that from a federal level We really have had a hard time. I think getting easy and understandable guidance from particularly OHRP regarding What is genetic risk? I do allow there are some small IRB's if genetics in the title They will require a full IRB review rather than doing expedite and that's just nuts They aren't even looking at like they mean one snip or a whole genome. Oh said genetics So again, I think we need a lot of help in this area and I would also suggest you keep your eye on HIPAA and high-tech What is becoming more and more difficult is the high-tech the concept of breach there are suggestions out There's proposals in here that are have been recently put up by the Office of Civil Rights, which oversees HIPAA That every time anyone goes into a chart you have to document who went in even for care Even for research within your own institution so that I as a patient could come back and say I want to see everybody Who's been in my chart and there is going to be Scott Weiss was in it fifty eight times on one Saturday afternoon And it's going to have his name As in why he I mean I know I'm interesting but not that interesting So I just wanted to kind of put out I think the importance as we talk about navigating the boundaries We got to know what the boundaries are and I think for a lot of the suggested approaches here I think do address some of these but I do think there's a bigger gap between your routine clinician and genetic researchers and I do not think they're ready for a lot of the Conversations that you're having here the fact that you know people saying in what six years you I can't find a person who said that You know we had three genetic consults Yeah, they're ready for the whole genome at your institution Okay, so I will David if you want to make a few comments up here and We do have comments from four people and then obviously it's open for everything and we have been foreshortened to 45 minutes Correct Terry. Okay Okay, so