 Thanks. The next part of our program is to split up into brainstorming groups. And I need your help with this. I need to hear about what kinds of things you're most interested in so that it'll be the most productive use of your time, I guess. So I'd love to hear your suggestions about what you want to organize those groups around. I have a question. So one thing I've just been thinking about is the technologies. The morning session was on technologies and the onslaught of technologies and the evolving technologies. And one thing I was mentioning to Barbara at lunchtime is my colleague and I often talk about this, because she's been in the field for 30 years. And she's saying there's many times when new technology has been introduced in her career. And so each time there's a new technology introduced, there's similar issues that genetic counselors have to deal with, but maybe different scope, as Barbara was pointing out. So is there something, a group that can kind of talk about this, it's old issues, but in a new light? I mean, something that how can we, as genetic counselors, be using the resources that we were trained with, but also adapting those to what we're seeing today? Okay, can we elaborate on that a little bit and think about how to turn that into something directly related to research? Sorry, so that was kind of half of my thought. The other half of that, so the research part of that was I was thinking is kind of, as genetic counselors, what's your interaction with the research team is kind of what I was thinking of. So genetic counselors now working with lab directors, genetic counselors now working with cardiologists, genetic counselors now working with radiologists, so kind of what's the space that we can play in? Yes, thank you for summarizing. I have a related question that I came across the other day as I was looking at trying to find data for rates of change and change implementation and sort of this idea that maybe change could happen faster with a genetic counselor involved or new technologies could be integrated more quickly with a counselor involved than otherwise, that it would like beat the standard rate of change or something like that. So for those of us that are clinical counselors, I feel like it would be helpful to have sort of a separate group. So I work at GBMC with Dr. Franca Mano and we work pretty closely with connective tissue patients in the Ehlers-Danlos Syndrome National Foundation, just they're gonna be awarding us a grant in August and they've designated us as the clinical center and so we're trying to figure out what that means in terms of logistics of our actual clinic but also we're doing research as well and I feel like I'm not totally clear in my mind what my role is going to be in all of that and we're gonna hire a nurse practitioner at some point but so we're doing like a pilot exome study right now and we're doing a natural history study but we're getting all of this money and I guess I'm just sort of struggling with the patient volume that I have and I'm also a half a cancer counselor as well and then just sort of trying to balance all of that so. Okay, I'm gonna ask you to clarify too. So do you wanna talk about in sort of a way how that addresses the needs of clinical counselors who are being pulled into research and balancing time or do you wanna talk about research questions that could come from clinical experiences? I mean I guess both but probably the latter is more important. Okay. Okay. I'd love to talk more if we get a group about how to study more of this engagement process that Jen brought up because also we have this insurance requirement as people know now for genetic counseling and I think it's bringing in a new type of patient that's not maybe not as usually be willing to come for a genetic counseling appointment and to be interesting if we could get a group to talk about how to study that potentially a collaboration with academic and non-academic places. I have two things I don't know whether they'll form actual groups but I thought I'd just throw them out there. One is how you pursue ongoing post-graduate continuing education or professional development around research. It's something I've been thinking about a lot as I've been moving out of a fully clinical job into having at least some research time and kind of wishing I could go back and do our master's program again and fast forward the research component of it. And then the other is just identifying kind of mentors and collaborators and choosing who you're going to work with. I would love to see some conversation around highest priority outcomes of genetic counseling and what some thoughts are about how we prioritize those. I think there's not still not consensus in the profession at all about what our desired outcomes for our clients are and I think that makes a difference in terms of how we design research studies so I'd love to hear some conversation around that. That's a lot of groups. Can we consolidate to some? How many groups do you want? We could also have a group conversation at the table and kind of take a few minutes for each one of these topics. If people want to do that or would you rather divide up into the groups as planned where you can be with people who are sort of thinking about similar things? I'll weigh in on that. I think my preference now that I've thought about both is that we might actually be able to have a richer conversation if we do it as a big group. We're not that big a group and I don't know that there's anybody here that's that shy about speaking. So it might be. I didn't, that was part of my problem. I want to be in all those groups. That was my problem too. I'm like, wait, I want to do that one. I don't want to do that one. I don't want to do that one. I don't want to do that one. Do you want to break up into smaller groups because you'll have more airtime probably if we do that. All right, well, let's try this approach and I'll try and field a bit of conversation around a number of these things. Why don't we start with the technologies that Meredith brought up. Clearly that was a major theme from the presentations this morning. And she raised the issue that these are some of the issues genetic counselors have been dealing with the entire history of the profession is our role in conjunction with technologies but these are moving out into use by lots of other providers. And so it raises questions about our roles. I would add to that that I think there's a question about when the implementation of some of these technologies will benefit from genetic counseling. You could even use the word might preferably be offered by a genetic counselor and when maybe that's not necessary for the client to make a good decision and use a technology. So some conversation around sort of where we see a central roles for genetic counselors. I think we need to start having more dialogue about that. I'd be interested to hear what you guys think and obviously because we're having a research symposium what are the key research questions around that? So I would actually like to see genetic counselors become more involved in health services research because I think as a lot of these technologies are excuse me, rolling out in clinics where they haven't actually traditionally had dedicated genetic support. There's a lot of confusion about what workflow would make sense. And I think poor workflows I think the bad consequences of a poor genetics clinic workflow often get dumped onto the genetic counselor's shoulders. If the workflow is not working there's a lot of kind of unnecessary time spent doing maybe superfluous administrative tasks or you're not seeing the right patients at the right time in their test journey. And I think genetic counselors would have a lot to offer health systems as they're kind of reforming to try and incorporate more genetic testing. So that's just the thought. To add on to that Laila, I think it's for people who haven't done as much research that's a very productive and practical way to enter into the research arena. I know that Morgan Buttrick who is coming today but I haven't seen her yet works across the street at NIH now and she is new to the, I'm not gonna say it right, N-I-A-I-S, D? Whatever. It's not just disease. She studies genetic autoimmune diseases and they're very interested in implementing genome sequencing research and she offered to do, because she was trying to set up a way she could begin her career there with demonstration of what she could offer from a research perspective as well as a clinical perspective. And one of the things that she thought she could do is a needs assessment for how this would meet the group's research needs in the unit and it was something that she could do from a public health experience was not a hard study for her to propose to and they absolutely loved it. She's not done with it yet but they loved the notion of it and was a very clever way I think to break into the group in terms of her research because it's bridge building. It's not exactly her preference in terms of what research she does but a good sort of segue into it. And it's not that far from what you're suggesting Layla which is more full on health services assessment where we would wanna get after best use of our time with improved outcomes, health outcomes as well as use of technology and kinds of outcomes. Good question for Layla but do you know if that's happening? Like that seems like an incredible place for genetic counselors to be. Is that occurring? So I only know that just because of healthcare reform at the moment there's a lot of money floating around from funding agencies like AHRQ and a lot of people in my department who are not genetic specific but they're funded by grants that are looking at how health reform is gonna be implemented in different clinical settings and genetics is not a top priority in there but it's gonna surface at some point as an issue and people are experimenting to a limited extent with primary care medical homes as places where primary care doctors are managing patients with genetic conditions and seeing if that works out better than having lots of specialty clinics that don't talk. So I think there's rooms there and I think if a grant were written in the right way and pitched to the right audience and there's money for it. So I mean I think maybe it's an idea whose time hasn't come yet but it's probably coming soon. That would be my guess. One of the things that occurs to me is that this is a way for us to be directly involved in being proactive about where we belong by having evidence instead of out there sort of crawling our way through this and inserting ourselves without real evidence behind our claims that this is where we need to be and it would lead the outcomes would lead to more efficient use of our time and more targeting of the kind of patients that we're better able to serve. So I think it does again have a lot of practical reality and I worry a little bit that as a profession we're pretty nice and a little bit more passive than is probably in our best interests whereas that would be an active and more sort of forward way to put ourselves into the fray as things are being sort of divvied up and services moving forward, having evidence for where it's useful. So it might help. Oh, sorry, Jillian, you have your light on first. No, I was sort of related to workflow. There's a growing group of genetic counselors who are involved in test utilization management which is the idea that they provide oversight for a hospital or a hospital system over the tests that go out. And a lot of it's about cost savings as the primary outcome but also about appropriate usage of genetic tests and appropriate. And there's even some interesting sort of case scenarios coming out where as a result of their test utilization management role they identified patients that needed specific aspects of genetic counseling or their specific things that the genetic counselor would do that these patients were in need of and then it created new clinical positions from somebody who had sort of stepped out of the clinic which I think is kind of an interesting related to what Barb was saying, of identifying the area and then moving in model for that. Jillian, can I just ask, are those sorts of things happening like health system? You know, would that be like Kaiser or something like that? Yeah, we're actually doing that. We just posted a job. And I should say we do that. So. From DNA, does that work? Standford just created a job, both a genetic counselor and geneticist for that purpose. We create software systems for you. So coming back to what Barb, you were just saying about how we need to be inserting ourselves as researchers to provide evidence for where genetic counselors should be within this landscape, where we're the places we can have the biggest impact. I'd push us a little bit to think about that more. What would the research questions? Because I agree. I think that's exactly where we need to be. And I think we can, it's nice to be able to say we should be there that I think this is a really great forum for us to brainstorm what would the actual research question look like. If we wanted to be able to say, show that we are most helpful here, most helpful here, not as helpful here, not as necessary here. How do we go about, for what are the questions we need to ask? So I can provide a little elaboration on my tack on to Meredith's original suggestion. The Cancer SIG is running this longitudinal study of test ordering and clinic sort of practice within Cancer Genetic Counselors that track changes over time. And it's pretty remarkable how quickly test ordering practices are changing on the order of months that they're changing. And so we sort of had this idea, we've been looking for statistics about rates of change and rates of innovation and technology diffusion and things like that to try to say like, this is way faster than technology normally would diffuse within a healthcare system and make the case that genetic counselors can somehow be involved with that, which I think would be interesting. And then I think it also then relates to health disparities research where there are a few studies that say that, like if you have an early onset colon cancer in an academic medical center, you're much more likely to be screened for Lynch syndrome than if you go to a community cancer center. And the genetic counselor may or may not be a part of that, but I think you could do research that would be in along those lines and ask those kinds of questions. I think the other thing that came to mind for me when you said that Lori is taking the areas where we might hypothesize that we are not as needed and doing studies like what Barb was describing that Katie's doing and then taking the areas where we hypothesize that we are well-used or needed and demonstrating or testing to see whether there are true real benefits to our involvement. One of the things that I think is really important in these discussions, because I'm starting to divide my notes into research that has maybe less innovative and exciting research questions but a lot of practical application because that's what we're talking about right now. And at some point I'll move us to more innovative kinds of research that we could be doing as well because I think we are clinically tied even if we've moved into research positions. We're trained as clinicians. Research is likely to have clinical implications. It's what drove us to get here. So I think that this is an important place to start. It isn't as exciting a research endeavor if you will but these questions have really important practical outcomes. But one of the things that always creeps up for me when we talk about these technologies is it still feels, maybe it harkens back to something Eric raised earlier. It still feels a bit removed from the client for me and it feels a little bit like the tail wagging the dog because it isn't all about the test. The test is only there because it's an asset to a client. And I use client because most of the people we're seeing these days aren't patients because they aren't sick because the technologies are screening tests and options. And so I like to frame these research questions about how can genetic counselors be most instrumental in maximizing use of available technology to the greatest value of the clients that they're trying to serve. That's where we need to anchor ourself. You can say we order more tests in a hospital and that can, and we generate more referrals and that can justify our existence for hiring positions. But I'm still not convinced that tells me I'm doing anything more that's benefiting a patient. So I think we need to tie those questions together because our justification really ethically, morally should be linked back to the patient. I think the ACMG list of disease genes, incidental findings is interesting because I feel like if they happen often enough, I find that to be an area where we're making a difference. So even though you're testing somebody who's otherwise healthy or you're testing them for an unrelated reason, I mean, it seemed intuitive to me that if you have a genetic counselor involved or a genetics professional that that could be effectively communicated to somebody without negative repercussions even if the arguments of autonomy aside that you can make a difference just like if you found a radiology image. And I don't have a very specific research question because I feel like you would need the sample that you would need in order to get enough people to prove the difference is extremely challenging which is exactly why having a lab that does or labs that do exome sequencing on a large volume would be ideal. I just how you go from that information coming into a lab and then getting it back out to the clinical provider and then able to measure what difference it makes from there. I mean, it would be a huge collaboration but it's to me, the way that we justify exome sequencing and the way we justify chromosomal microwave coverage a lot of it's to do with incidental findings. So if you have a microwave deletion that deletes a BRCA or that's some of those papers are published and that's one of the arguments the insurance companies make when they don't cover it. So it has a practical benefit and then if we can prove we can do good counseling to get somebody through an incidental finding we can prove actually that they're okay with getting those after all. So it's a big picture question and just I don't know the way to execute it. I think the hard question too and I don't know if anyone knows how to capture that population that's not using us. How do you find the people who are getting genetic testing outside of a context of a genetic counselor and comparing to try to get that other benefit that we add? I mean, I'm just thinking I have some experience with counseling people who have had 23 in the testing and those are obviously ones who are seeking us out. There's so many people who get testing who don't see a genetic counselor and I'd love to capture their experience to prove that what we do is useful and it's not involved in test ordering it's just talking through this information but I don't know if anyone has it. Well they do have that study where it's really interesting it's one of my favorite lines from a qualitative study where the person said, well I wasn't really stressed about my BRCA result until I went to talk to the genetic counselor. So the, oh no. Thank you. One of the things that we're doing at the VA is actually because we have an electronic health record and we can pull structured data is to identify everyone who's had a genetic test find out who, what physician, what specialty is ordering and then what kind of follow up or what kind of utilization of screening those patients are having and if they have had a genetic consult is that any different? And I think that's one way that we're trying to approach that question. Tricia, your comment made me think of two things. I mean, one is the boring and not client oriented related outcomes that I do think are, even if they're not client oriented by I think they're important for us in the health system right now or the cardiac set put together a case series of cases that demonstrate the role of the genetic counselor in making the use of genetic testing more cost efficient along the test utilization sort of picture. And so those are people who had had genetic testing without a genetic counselor involved and often the wrong test ordered or not the right person or it wasn't interpreted properly and we really focused on the cost side of things mostly fitting into sort of healthcare reform right now. And so that's in review. But then on the more counseling side of things so this kind of we can talk about our role as people who make medical genetics assessments and order certain tests or choose tests or interpret tests or make family screening recommendations, right? And that's kind of a little bit more what that paper is getting at but from the actual counseling more related piece of things. One thing I found really interesting when I joined my group at Stanford is they had been doing genetic testing for years without a genetic counselor involved. They just really wanted a genetic counselor. They've been working and getting a genetic counselor but it meant for the first year and a half I was there I saw all these patients who had already had genetic testing but they never had genetic counseling. Damn, but I really wish I had studied that but that's the kind of thing that I would love to study and it would probably take a really long time in my setting at least most of the patients who come to see us haven't had genetic testing yet and then they get it with our team but I increasingly am having people where they're cardiologists or they're genetic testing and they haven't had any genetic counseling yet and then they get just the counseling piece with me. So could a study be designed multi-century study even around that population that captures specifically what we do when we're doing post, post, post, post testing genetic counseling? I think you could definitely do this. A lot of gynecologists will order testing in the area and then patients are referred after the fact to me and I think it's decreased a lot but there's definitely doctors that are still ordering and that counseling obviously looks very different. So that gets to the question. I think the underlying question that both Colleen and Christy pointed out at least as I'm listening is when should genetic counselors see patients? Is there evidence that we should see them ahead of time or should we see them all after the fact and we have the gut reaction clinically and anecdotally about what messes we're cleaning up afterwards but a systematic study of randomizing people to pre-genetic counseling versus post-only genetic counseling to get a sense of how that impacts outcomes I think is exactly what we need. I guess I wasn't so much thinking about that though I agree with that. I was more thinking of almost a convenient sample like here's a situation where we can separate out the genetic testing from the genetic counseling and we can just look at what the impact is of the genetic counseling piece. That's more what I was thinking. So I do think that this kind of investigation you were just describing is very much needed with circling all the way back to the new technologies because for many, many people who undergo exomer genome sequencing now and in the future when there isn't a genetic counselor involved and maybe they even do get a primary or secondary finding they may then receive genetic counseling about it later. Because I think increasingly that will be a lot more the timing of genetic counseling so having some data on that could be great. So that's really important Colleen if we do a really good job identifying what the outcomes are because you can do a pre-post and if you see changes post you're gonna have to have to have a lot of good insight to be able to convince your recipients of your data that you know it's because they talk to you. Could it be that a nice person spent an hour in the room with them, right? So it's the design of that is harder. Lori's suggestion of the randomized control trial makes it a little bit easier to be able to claim that the differences you saw had something directly to do with the services that was provided. So I agree with you. I've done much more research that's like that than what Lori's suggesting because it is more convenient to do but we have to be very careful that we start to dissect these notions as Jillian illustrated with engagement around what we're really doing with people. So if they just feel better in the end I don't think you can really make a compelling argument that it's because of the actual work we did with the client necessarily. And so I think we have to dig down into a little bit more specifics about what happens that leaves them feeling better somehow that's of good serious value. One is if you can tie it to a health behavior outcome so that you can reduce health risks, that's a huge one. And another might be a sort of reassignment of strong reactions to the testing. So if they were paralyzed by the results and not able to talk with people or manage it or get screening and you could show that they're now able to do that that's a really effective outcome but can you do that for a majority of the people you see? So this is where I bring up this issue of outcomes what are we trying to get to in the end? It's a hard study to design really well. So I tend to think in terms of things that are easy pickings. So my state of mind is to try and think of something that wow that's easy I wish I thought of that. So one of the outcomes that I always find very tempting in genetic counseling is uptake of single site testing in a family after the identification of an actionable mutation. And I can tell you that I've certainly taken calls from patients who've said, well my sister has a mutation and I need to get tested for it in BRC1 or something like that and you say well if your sister was tested five years ago why are you only looking into it now? Which is why I got diagnosed with ovarian cancer last month. So that's a disaster, right? That's a completely avoidable disaster. And it's a plausible theory that genetic counselors do a much better job of stimulating appropriate uptake of single site testing in a family than non-genetics providers do, right? It's a plausible theory because genetic counselors address a lot of things that are relevant to that in terms of family communications, the barriers to family communications, all of that education that you need help with how to communicate in your family. But no one's ever really investigated that. And so when I think in terms of easy pickings one of the outcomes I immediately think of is an investigation of whether or not genetic count patients who get tested with genetic counseling whether or not that facilitates the appropriate uptake of single site testing in that family. So I mean, if we're gonna talk about health, health outcome related outcomes, that's one that is, that's easy, right? That's an easy study. So if somebody could do that, that would be great. Yeah, I mean, BRCA one and two, Lynch syndrome, HHT, long QT syndrome. There are so many of those conditions and the uptake on single site testing is terrible. It's absolutely terrible. I think I would, Laurie is looking at me because it's a study I've wanted to do for a while, but I think I would add to though, at least in my world, not just genetic testing, but screening as well, like actual phenotypic screening. I do think that's a place where we, and there's a little bit of literature and cardiology about genetic counseling interventions increasing uptake, but I think that's a big part of what we add in terms of health outcomes for the whole family, and I would love to see that investigated more. Yeah, to jump on that, I think also then to understand the mechanisms by which it happens is really important. So if communication is indeed the mediator and if there's something that's happening in the session that's promoting communication and in a perfect world, if there are communication and interventions that could be delivered, that someday we could write a guideline about it. I think it'd be great. You're gonna get that in there wherever you can. Going back to Matt's suggestions about incidental findings, this is similar to what we're thinking about. The less has been part of initiating a clinical center-wide genome sequencing opportunity, so the clinical center is sponsoring investigators who wanna start offering sequencing to their participants, and they have to apply for it and they get some funding for it. And as part of that process, they're gonna be required because the NIH has decided to ask that it happen that they test for incidental findings. So the estimates are now that the incidence is one to 2%, so it's still really small numbers, but they're gonna do thousands of sequences. So we're starting to now talk about reasonable numbers, not high numbers, but you're right. I think a collaborative study, this is where I'm really interested in. It gets to Eric's comment too, incidental findings, Angillians, incidental findings matter if people tell at-risk family members about them. If somebody in the family gets single-site testing because we're talking pretty much about high-risk diseases where a single test is what's indicated, those are very practical and important life-saving outcomes that could be tied to having that experience with a genetic counselor. So going back to thinking about how many of us have opportunities to be involved in that and could we collaborate on something large enough to get sufficient numbers, I think that would be a really interesting study or something to even propose to NSGC to fund some kind of large collaborative, well-organized study about practical outcomes that come from genetic counselors being involved in return of incidental findings whether it's in a research setting or in a clinical setting. So the Undiagnosed Disease Program recently launched the Undiagnosed Disease Network. So for those of you who don't know, there will be six sites across the US doing the same thing the UDP has been doing here. And one of the task force I'm a part of is trying to figure out what as genetic counselors we should measure in terms of outcomes for genetic counseling and testing. And one thing I'm curious to go back to your research, Julie, is so for all of our patients incidental findings really will be incidental since we're looking for primary variants. And you mentioned that for most of these families they don't have any recollection of receiving anything past a primary. So I'm wondering, I don't know if this is true, I assume it is in clinical settings as well. If there's a value in separating out those sessions, primary versus a month later coming back and getting secondary variants so that there's even this chance to react and absorb that information before we could measure acting upon it. We've talked about doing that and the other thing that we're starting to do is return the secondaries in the absence of primary which I think is again also something that's coming from the clinical rolling out these tests clinically. The answer isn't found in a huge percentage of exomes that are ordered you still have to return the incidental findings. I think that's the flip side of that equation is that when those are the only results that you have available are they gonna somehow become more meaningful and are you more likely to act upon them? And I think another thing that has often come up for me when I'm returning these results especially for carrier variants, I mean these are disorders I have never heard of and I know Katie does this too, right? So we're calculating recurrence risks and you're trying to put these numbers into frames for people and I'm very interested in how people grapple with and make sense of these kinds of risk assessments and whether or not they're, how I'm communicating with them so that they utilize this information appropriately. I don't know that it's necessarily appropriate for them to run out and have their partner tested because they're so worried about this infantesimal risk that they're gonna have a child with something, something, something, emia. Which is, you know, so it is an interesting component how we deliver this information and how we make it make sense to people. I was just gonna say I love that idea but I think one of the problems in the clinical setting as someone who was doing a lot of exomes recently, you're lucky if you can get the insurance company to pay for enough time to just consent them and talk about one result, right? And so I think in a way, I mean I think what you're talking about could come but it might have to come after the evidence that the genetic counseling is useful so that we have the justification for the reimbursement in place, that's the problem. So one benefit is that this is research and interestingly the other UDN sites will be able to charge insurance companies but they have to cover anything insurance won't pay for so within the UDN there's the option to investigate any and all of this without reimbursement concerns. So do they have the choice? We are in discussion of exactly how we'd like to proceed with incidental findings. Part of the problem is for most of the families still we'd be in a situation where all we have are incidental and secondary variants and that's like 80% of our population still so it's awfully difficult to decide whether we'd like to spend any time investing in incidental findings when we still can't find a primary variant. Though I suppose the counter argument is what Julia was saying which is that that's what most people will experience and so it's a great laboratory for investigating that and we should meet at some point because I'm involved at Stanford. One other practical question that hasn't come up and this is completely self-serving is that genetic counselors can be involved in consent research so we're doing a randomized controlled trial of two consents for exome sequencing. Holly and I are working on it here. I think we're up to about 130 or so that we've seen where we need at least 200 people to compare the results anecdotally with absolutely no analysis so this is complete trash. I would say I can't detect any differences and I haven't analyzed any of the quantitative data at all but if that's true one is a much more streamlined approach than the other and if that ends up being true that's important evidence for not putting people through these long tortured consents and one study is not sufficient so we need other research to show similar things. It's a very embarrassingly boring question but has I think really long reach in terms of practical implications and surprisingly has been much more fun for me to implement than I thought it would be particularly because when I started I really hated the standard arm. I was quite worried about that but engaging with people when we are the other has been rewarding work and so it's something I encourage you to think about as well. I absolutely agree Barb and I think it also is I think it really does relate to how many, how we spend our time clinically and how we function that a lot of what we can bring to the table clinically or traditionally thought to bring to the table clinically is to have the patient sign off on this testing and so it is really, I would love more thinking about how we can offload that in any way to really get to who really needs to spend time talking about the mechanics of this and what you could learn and how do you do that? So why don't we use that as a segue into talking about things that are a little bit more innovative and maybe more novel in terms of research design and contribution because we should be thinking way outside the box for this. I mean, I'm probably borrowing from some of the suggestions we heard from the clincy participants in our focus groups but they're like why do we have to come in? Why can't you set up an interactive website where we can go back and visit it then I've been exposed you'll have to help me red cap did I say right now? To red cap through my involvement in a collaborative research project here which many of you are shaking your heads so you already know about it. I'm the last to know where patients directly can come in and look at the research that's ongoing as can the researchers and they can answer their surveys in red cap. It's a sort of collaborative research environment where people come to get, I'm not describing it but I can tell from your face. You describe it. You guys, do you all know about red cap? Okay, well really what it was set up as is a way to integrate PROs into more of an EHR-like system. You sound way too acronym-y there. Okay, sorry. So there was an intent to integrate especially promise, you guys know about promise, right? So it's a patient report outcome that are geared toward quality of life and sometimes toward function. So there was a perception that would be very useful clinically to have something that allowed providers to have an interface that was between the electronic health system and the patient where the patient could go enter in patient report whatever into this system that interfaces with their electronic health record. Some people are using it in a way more like Barb describes to do collaborative research but largely it's used as a research tool. But it's cool because you could aggregate data across lots of different health systems and research networks. And so people using the promise fatigue can look at with, you know, obviously after they agree they can aggregate their data and look at a whole bunch of different data sets together. So it's pretty cool and it'll score. I mean, it's neat. If you don't know about it, you should check it out. I have sort of an idea that's related to that. So within the research that we've been talking to the Health IT SIG lately about trying to do something. So it's a very early idea that how could we use hospital systems or increasingly rolling out these patient health portals as a way for clinicians to interact with patients in a different model? And how could genetic counselors globally use them for their practice to support their practice to extend their reach, to extend their relationship, to promote engagement. And then simultaneously potentially study the process, maybe use patient health portals to gather outcomes data on genetic counseling or, you know, various processes. I think there's a lot of possibilities around those technologies. And I'm also really interested in something else that you had mentioned, Jillian, earlier, is who utilizes these, for whom do these kinds of techy, innovative, electronic methods of communication work and for whom do they not work? And yeah, people. Because I, and again, just speaking from my own experience, you know, when we do talking to people who are in a demographic, more like the ClinSeq cohort about what we plan to do is totally different than talking to people who, you know, don't speak English and have like a sixth grade education. I mean, it's, and I think that, you know, examining disparities in access to these technologies and communication about these technologies is very interesting and salient as well. And we can design, you know, fancy power presentations and things to have these conversations and to interface with our patients, but if they, you know, don't work for, you know, they don't work for everybody. So it's interesting. But I would argue it probably increases access to do it as opposed to in person, you know, making them come in for consent in person and take off. Those are people who probably don't have time off work. Right. But it probably hasn't been studied. So while I'm trying further this, I'll use Gillian's example of engagement because that was on her list of something to talk more about how she dug down having witnessed it. She did a lot of work to try and get down to what really is engagement and how do we assess it and how do we relate it to what we do with clients. And I think that's the kind of work we need to do to try and get at some of the fundamental things that we're trying to help our clients change as a result of an engagement has huge implications for taking on the results, communicating them and using them or doing anything with them. So it's very, it's not a very distant proxy from the outcomes that we really care about. And I think this is the area where we need to get, see some really interesting research being done. The one I've glommed onto, which is probably shared by anybody who's ever touched or thought about genome sequencing is uncertainty that we've had as part of our entire careers in genetic counseling, but the scope of which is amplified tremendously by genome sequencing. And in a very bizarre way, because we have these very powerful stories of unsuspecting people without cancer histories, finding an incidental finding and saving a relative's life and the diagnosis of a rare disease that's never been found before. This is a powerful technology and it can help people, but those are the exceptions, not the rules. And the vast majority of this information, as we all know, is uninterpretable and sort of sitting there and languishing. So we're really excited and engaging people about it and yet we're leaving them with this huge swath of uncertainty. So I'm interested in uncertainty conceptually. I know other people around this table are as well, so I don't own this, but I'm also interested in it because again, I think it's a great bridge. I think we need more innovative ways to really measure and think about what we mean by uncertainty. So it's stimulating and innovating in a sort of measurement conceptual thinking way. And I don't like the measures or the models that exist in the literature now. So I think there's some good work to be done and yet it has very, very practical outcomes because it's how people perceive what they're signing up for when they consent. It's how they have an imagination for the type of results that they might get. It's embedded in their thinking about whether they'll get a result and what the result will be in I think an unrealistic way that sets them up for these pretty high expectations that they're still gonna learn things from this testing where they might not learn things. So I think it has, it's sort of a key in this whole cascade of maybe sequencing sort of being disillusioning to people or disappointing. So I've really glommed on to that one and I find it a really fun thing to think about and talk about and try and measure. We are gonna have a plenary on this at ASHD in October where we're looking, five of us are looking at different dimensions of uncertainty. And I like it because it doesn't take me too far away from the practical clinical routes and yet my desire to rethink what the concept really means, what's included in it and how we measure it is really mind bending and interesting and stimulating. So I'd like to see us think more about concepts like that where we can really contribute to the literature about something that really floats our boat and we like to think about a lot. Holly might weigh in here because she's been working hard on hope and expectations and how we measure hope. Things like that that again have direct relationships to outcomes that are practical and that we might be wanting to measure. So it's a way to sort of take the training that we have in social and behavioral research and maximize it without losing sight of the many things we've talked about already that are sort of practical on the other end of things. And it makes the work much more stimulating and interesting. It's not really very fun to present this randomized controlled trial of consents. You know, one's long, one's short, one's high literacy, one's lower literacy. It's not, you don't have to be smart to design this study at all. You have to be smart about the outcomes, but it's not, it doesn't do it for me, if you will. I like implementing it, but it's not a very impressive research question. And I think it's fun to have some really innovative thinking around how we originally contribute to research. I don't know that simple question though, it's great because doesn't that lead to issues of patient autonomy and to what degree? You know, you're going to have a consent. You know, it could inform, I think, a lot of the struggle as to what extent do we detail everything that we're gonna test for versus due by disease category, by mutation category. So even though it's a simple and boring, you know, I think it's important, especially now that ACMG coming out with a 56 list and all of that. I have a question for you, Barb, if that's somebody else gonna talk or no. I was gonna ask, so one thing that's come to my attention is that there's a lot of emphasis right now on what they're calling behavioral economics research, which when I, there's a lot of them in my department and I talk to them and read what they're doing and to me it seems very similar or, in fact, identical in many cases to what's been going on in the genetic counseling literature and in cognitive psychology more generally. So how do you feel about that trend and what kind of help or hindrance do you think that movement is? Cause it's very well funded. It's interesting cause I just heard the CSER grants are the NHGRI and some other NIH institutes contributed funds to genome sequencing studies and they've been going on for, which I know you know about for some time. And one of the, a couple of the centers have health economists who are on their team and are doing cost effectiveness assessments in very innovative ways. Not just about numbers of tests ordered and quality of life years saved as a result of a couple of findings but a much broader way of thinking about it. I can't reproduce it without it being in front of me cause it's not my area of expertise but I heard one of these presentations and I've been cynical about this all the years over the years cause the early talks I used to hear from the health economists minimize simplified things so much it didn't resemble clinical work and these guys have algorithms now where it much more resembles real life situations and I was so impressed. And even with very, what you would think were very small outcomes of primary results was able to show substantial cost effectiveness by casting quite a wide net that wasn't reaching too far and one of the big studies is already out for review so we'll appear in the literature pretty soon. So I'm really intrigued by how I wanna hire a health economist in our branch I think because their training now is much more translational and it does bridge some of the things we're doing and I think they could bring expertise to thinking about how we measure some of the cost effectiveness generally about what we're doing. There's also all the history of all the decision making and assessment of decision outcomes that comes from economics and cognitive rational decision making work as well that has direct overlap with a lot of our interests. I guess that's what I was talking about more is people who are doing decision aides and building decision tools into software and EHR like decision support and things like that they'll be citing heuristics and biases and they'll be talking about affect and then they'll just say oh and that's all from the lengthy behavioral economics literature and the research team I'm on for MedSeq there's another genetic counselor and we always look at each other and we're like wasn't that us? So I mean I think that there's overlaps there and maybe even redundancies but it seems like that it's being plugged into new applications so it's something we could maybe highlight. Yeah although I think the decision making group funded out of NCI would say that none of that research has been sufficient to really help us. We understand that decision aides can increase a few important outcomes, improved relevant knowledge and satisfaction with decisions. We don't know how they work, we don't know how important that is, we don't know what health related outcomes difference there is so they're really big into talking about the truth about decision aides which is we really, everybody claims that it helps with values clarification. We don't have really any evidence of that actually and people don't really understand how the people are more satisfied with their decisions so there's still a lot of good work to be done and I think the behavioral economics people can be some of it so I wouldn't say that we've already been there done that. I'll give an example in the VA of pulling data about who's ordering tests and how many tests are done. We find a percent of patients who have repeat tests and that's an issue for the VA because we pay for every test that we order. They're invested in finding out is this an appropriate test that's being ordered, who's doing the ordering and perhaps this is a way that within our system we can then say only a geneticist, genetic counselor should be ordering these types of tests and that way have evidence that we are doing something I think for VA as a whole, I don't know. Colleen's suggestion and take a few more minutes before we end the larger conversation about how do we get continuing education and research and how do we seek out collaborators and fine mentors? I think these are really, really important questions. I can share an anecdotal story that's been happening in the last week and I just think it's kind of wild and I'm sort of perplexed with how we should be handling this better but the research sigless serve I don't know how many of you are on it but almost nobody really uses it and so we're thinking people should use it more, right? One person put out I wanna do a research study I've been approached I have this opportunity we have the population I need help and I responded to her and I think maybe one other person responded to her and then I heard subsequently in a phone call that she had nine or 10 responses from people who could help. The other thing that this prompted was then an onslaught I got three subsequent emails from other genetic counselors who saw my response to the first genetic counselor asking me specifically to help them with their study or their outcomes or their study designer to help them find somebody and so this has just left me thinking there's gotta be a better way for this and it could be a research sig answer maybe not but there's certainly a demand. Along those lines I do have a friend who totally scored in the NSGC mentorship match program and got Janine Austin and I'm actually fortunate to benefit from that mentorship because this friend was my mentee through the mentorship program and we're now doing a research study together and Janine is mentoring us on that research study but I'll be honest and just to be totally frank I have held back from pursuing mentorship for my research work through that venue because I'm very confident that I would get as lucky as that and so I've just kind of been thinking about how else to identify that, particularly for me being someone who's starting to get back into research more and I don't really have the right kind of species of people at my institution for the sort of conversations we're having around this table right now, yeah. So one of the best pieces of advice I got when I came here was from Karen Lerman was to start going to the Society for Behavioral Medicine meetings, which I did promptly and there are large meetings and they cover cancer, cardiovascular disease at that time, HIV and diabetes. They cover public health problems and genetics was not nowhere to be seen and it didn't make any difference. From the first day I went and I went to these talks it's all generally psychologists with a different kind of background in training and they're interested in all the application questions we are because it's in medicine, social and behavioral research in medicine and so every talk I went to was, I can think of the first ones I saw, how do you figure out if your patients are complying with their drug use? Is a psychoeducational support group useful for men at risk for prostate cancer? How do we assess quality of life among those who are in the end of their lives, blah, blah, blah, it didn't matter why they were there, all the research questions were interesting to me. I was like a pig in mud and some of them were really easy to pick up because they were qualitative and it wasn't too hard to understand the methods and how they had done it. Some of the quantitative studies were pretty straightforward in how they asked the research question and what the methods were. I went once with Kathy Peters was working with me who's much more bold than I am because I don't want people to know how stupid I am but she would run up to the presenter afterwards and go, can we use your scale, we're designing this study and it would be just really appropriate and we give you all the data. I would power in the background and as a result of that when we first started designing studies at the NIH we were using some of these marvelous scales that were just kind of, that had been really well designed and were just kind of catching airspace in other arenas that really had direct application to our research questions. So it was amazing, indirect mentoring and psychologists, I'll just make a gross generalization love to help people and so they expect people to come up to them. They expect to collaborate. It isn't, who are you and why should I work with you? And now in the last 10 years genetics has been part of that meeting. It's still very small. They have sort of a panel. I've given probably over the years I've given eight or 10 talks at SBM now. It's increasingly a presence. The last meeting in Philadelphia in April there were a number of talks on genetics and I talked in two different forums and so that's gaining some traction and the debate was phenomenal. So you have to kind of be into the, you know, the theoretical and conceptual work of social and behavioral scientists but the great debate in the great hall was should there be one overarching theory of health behavior or do we need these splinterings of theories for different contexts? And they literally ran it as a full-on debate. Heated voices and everything, arguments and then they took a vote at the end and it was 49.51. And so what they've done is they've truly identified an actual difference in how people are thinking and are trying to come up with a plan to go forward about how they work on reconciliation in the field and they're having a crisis around ontology because the field is far enough along that they've realized that we use these terms to represent different concepts. We measure them differently so we're not really actually reporting on the same things when we publish and so there's this huge international effort. In fact the first book is supposed to come out this September I think about ontologizing so clearly defining major constructs and health behavioral research and I don't think they've even tackled yet the differences in how we measure it but more about how these concepts relate to one another and what we mean by them which I found totally cool because I've been obsessed with that problem in the literature forever and so that's a way that you can easily absorb a lot of and indirectly meet people and they have no conflict of interest with you there. A lot of them are eager to learn more about genetics so to meet a genetic counselor is really cool. They don't know how naive or not naive you are about research so it's kind of very freeing and so I would really strongly but I was also doing it under the tutelage of Karen Lerman so it is really nice to have at least somebody who is a mentor that you can ask questions to who you feel safe with and I still always always always have or seek a research mentor. I don't feel comfortable not having that. These days it tends to be some people over at NCI who still kind of scare me because they're really smart and I'm not that smart and I like keeping myself sort of uncomfortable that way. It helps me recognize the boundary at which I really don't know what they're talking about when they're discriminating these constructs. It's just really still above my understanding because it's always pushing me to learn more and I feel safe enough with them to say, what are you talking about? Or I can't sign off on this paper because it's so down on the weeds that I don't feel I should be a co-author on it because I don't feel like I honestly intellectually understand what we've studied here and so I think having those kind of relationships are really really important. The other people have other ideas for, so general PCORI or PCORI to find mentors. So PCORI is an interesting beast and when I talk about grants a little bit later I think PCORI is something we everyone should have on their radar strongly. So if you don't know about PCORI for sure, go look at them. The kind of research PCORI is funding first of all they have an enormous amount of money and second of all they're funding research that's very consistent with the sort of research we tend to want to do in genetic counseling. They are, they do a lot of interesting programs. So one of, they do a matching sort of program. So I don't know that they do research matches but I'll look at that because they're very into these building these collaborative groups that include clinicians and researchers and patients. So I'll have to look into that. If they haven't they would probably be interested in doing that kind of thing. They're very responsive to those sort of comments. But I mean I think overall it's an incredible resource for those of us especially people who are looking to do smaller projects with smaller budgets that have a quicker turnaround time. Some of theirs are like $200,000 for one year and the whole process takes about six months. So I mean which for a grant is really, really fast. So I definitely encourage everyone to look at PCORI and I will talk about it a little bit more later. Question for you actually. Because when I was first drawn to PCORI it was exactly for all of those reasons and in the back of my head I keep thinking they do comparative effectiveness research and they're focusing on areas of medicine where there's a dearth of evidence and reimbursers don't know what to do. So how can we convince them to fund like a randomized trial of genetic counseling or something like that because it doesn't seem like that long a shot but you probably know better than I whether that's a pipe dream. I think I need to get myself a little closer. There we go. They're growing, so initially the calls that they put out were kind of limited but now they're actually growing their calls and they even have things that are not strictly comparative effectiveness research anymore but pretty much all the questions you all have put out we could pose as a comparative effectiveness research question very effectively. So I really don't think there's anything that we've discussed at all today that couldn't be put within their interface. The funding streams, just about every month they put out a new funding stream with a different focus. So I think it's a great, it's a fabulous thing to try and if you've looked at it a year ago look at it again because it'll look really different even three or four months ago. They do methods, funding specifically that would be interesting to some of you as well I think. How about if the program offers, I should probably take a break and talk to Lori privately before I suggest this. Sorry Lori. What if the program institutes something like every other month on Monday morning at 10 o'clock? We have a call in research collaboration mentoring meeting and whoever is free that day will have to have somebody who at our end who we know is gonna be on Lori or I and whoever has something that's on their mind or they're facing or they want to think through with somebody else, they just get on the phone for an hour and would just involve the entire alumni and even the clinicians who don't have as many opportunities for research who wanna stay tied to that and wanna be thinking about it can call in and hear what we're talking about. You could set up maybe a place where people could put in questions ahead of time like people could post. Well that's a good idea. So you know if you need to cancel out. I haven't thought about that so how would we do that so I guess. Just Google. I could. Google. Yeah so yeah that would be a better way to do it if you think you're gonna call in that you take the initiative this end so that nobody has to coordinate that. And then if people have those same questions they'd know to call in that day. That's a really good idea. No one has anything you'd just cancel it. I think Lori or I could be committed to one of us being there and being on the phone for 10 minutes before we even cancel it. I mean we could still be working in our desk and then we wouldn't have all the emails going back oh today's canceled. You know it would just be an ongoing every other month thing office hours right. And we would be there and you know for really old people like me I like to be connected to people so it could have a little side benefit for Barb. Getting to talk to people so it's not like I'm really offering something very generous. It would be a really fun thing to do but I think it could help all of us. Holly and I and Lori and Chris have a research meeting in our unit our tiny little unit every other week and one of us presents something and sometimes it's literally just what we're thinking about and it's like mine candy to get people to knock the sense into you or just really challenge you about what you're doing. Sometimes we work on modifying skills we're developing. I find it extremely helpful to get me unstuck and sort of just moving forward so we could do something similar. It's very informal. We could do something similar so nobody has to spend a lot of time preparing to present things. Ask if anybody has any final, I like that we did this as a large group personally. If anybody has any final questions or issues they wanna raise before we get back to our scheduled program. We were supposed to go until 2.30, weren't we? We are fine, I thought we were at 6.30. I have a comment so this is again, so sorry I've been very involved in PCORI and they've gotten me very sensitive. One of the things that I haven't heard much about around this table is responding to research questions that are of immediate importance to your patients. And so I wonder if it seems like that would be the top priority around this table is these are things that are important to my patients that we're not meeting and I haven't heard that at all. So I just wonder if people have comments about that being a leader of your research agenda. I would address that, I was thinking about that as well but I wonder if it's just because we kind of got off particularly talking about sort of the future of genetics and genetic counseling and new technologies. I mean I have a research project that's just in the development phase right now that I have a master's student working on that's looking into one of the biggest psychosocial issues that comes up for our patients in cardiovascular genetics when we get athletes who are then told not to participate anymore and it's very neglected in the literature and unfortunately they get dismissed by a lot of other providers that it's like whatever if there's other things it's just the bike you know. So that's something that very much came from my patients that I feel like I really want us to understand better and put out there. The issue Eric brought up it's been on the forefront of my mind because it funded my job which is getting the word out to family members right? So it's not a, I mean it's a big picture issue that we all deal with whether it's sharing a mutation test result or just actually encouraging people to go to the doctor to get an echocardiogram and so both the end point of getting those people to see a specialist and the reasons why there isn't communication between family members. What are those hurdles? I mean these are all things that you sort of address again in your day to day practice and you try to think of very, I'm like Eric I don't know if it's the why or not but I want it to be simple right? Like I want there to be like okay I find out with this new technological way to share information. Well I know that's not gonna do it it's not that simple. And so being able to break it down this is I think this is what I struggle with. I mean I'm sorry to hijack this but like how the actual process of doing the research isn't going to completely affect the ability to do what I wanna do. You know what I mean? If I wanna try two different things versus each other and then I go to an IRB and they have an issue with doing the standard of care which is sending a letter versus trying something else or if you are gonna provide genetic counseling for some and not others. Sometimes it's like how do I actually get it done when I know if I see a patient I can just do different things it's like a mini experiment myself. Not that there's any data to show for it but that's one of the things I struggle with is not even necessarily the time I could potentially take the time to do it but that's a curve ball. I can say something. It's probably not gonna be the type of topic that Barb likes in terms of having time for these things but coming from as I know where I've done well over 50 exome sequencing cases and every week probably between panels and exome I'm ordering maybe 10. I think it ties into the service delivery model maybe in a different way now like what Meredith was talking about then in the past where it was about how you get things across to patients kind of with the new technologies like panels coming out it's not so much that but how you, I think a lot of what my patients struggle with or what they would really like not from a psychosocial standpoint is just purely having enough time and then I struggle not being able to give that to them so if I usually get because they do them in batches I'll get 10 abnormals back and I have one result that's straightforward I have seven where there's a possible pathogenic for variants likely pathogenic to incidental findings like though I mean I guess tying in kind of some of the service delivery and health behavior outcomes together where ultimately like you were saying earlier it's about how the patient's adjusting to that and how they're using that information and that's why I think also I'm interested in like the uncertainty component as a very tangible chunk of that because it's variants, variants, variants, variants all the time and while that will change in the future and certainly we'll get better at interpreting these things those are at least from my like very fast paced clinical perspective those are the things that I think the patients struggle with because I try to call them right away and give them results but then we're doing the model where we call them I usually call them spend a lot of time over the phone which brings up the whole other topic of reimbursement and then if there are incidental findings when they come in to go over those with them but for a lot of our patient population they're not going to come in or the wait time is five months for a real appointment and you're trying to squeeze and it's just a lot of those types of things I know it's not quite as interesting as some of the more psychosocial outcomes but I think they all tie together because if you're not having an overall experience what are you taking from that appointment and what are you taking from this hopeful experience that you started coming in with or your tolerance for uncertainty like I'd be interested in kind of tying all those together and even with the electronical medical records I think someone brought up earlier we kind of have a portal system to some degree but basically along with that timing a patient might be able to go click on their whole exome sequencing results Tuesday night at 9 p.m. and I have seven voicemails coming in on Wednesday morning I have patients all day I've tried to insert emails like those are the types of things where I think those are more of the immediate concerns that tie into some of the longer term concerns. I sort of led the charge on going off the train but I think the study that Katie you're doing about comparing sort of a technology web-based thing to counseling I think Barb's point about it not being necessarily a threatening thing because if it turns out that it's comparable then the time that we spend doing the carrier result maybe we could spend that doing the exome result or the high impact medical result because I mean there's a workforce issue and then there's a time issue in our jobs and so maybe it'll turn out that those lower seemingly lower impact situations may end up being things that we can give up if we're involved in the design of the websites and the technology that's also wonderful because maybe somebody's getting credit for doing that and so on and then hopefully that ultimately helps with your workflow. Yeah I mean I think so I think that's definitely our goal is this time crunch and certainly in ClinSeq I didn't used to feel it and so I feel a little weird weighing in when you work at the NIH and saying like oh I know how you feel but we're trying to do this trial quickly and we're doing 10 of them a week so I'm slowly starting to understand how it feels to feel backed up but I do feel like I do feel like figuring out how we can maximize our time is really one of the most important things we can do here and like Barb said I think one of the most powerful things is then being advocates for what we want to spend our time on and what the evidence shows we should be spending our time on and so it's been one of the best things for me about doing this trial I think what's hard for me to separate out though sometimes is in doing the trial we're giving back all carrier results and almost everybody is under you know when I explain the results and they get these you know your risk is 0.0012% to have an affected grandchild with whatever they're like oh well who cares you know speed it along lady like you have any then they're always bleeding over they're like do you have anything in there that's like 20% risk and I'm like 20% but you know the interesting thing that I think sort of foils that is that the risks are low and they're dismissive but then at the end I can't tell you how many of them lean over and go I'm so glad that you were the one who told me though I'm so glad that I got to sit face to face with a person who told me who cared if I was getting it who cared if I didn't care you know I think that's what's so hard to separate out and I don't know I struggle with how that fits in our outcomes research you know we spend so much of our time and our careers and so much of us so many of us are interested in building a good relationship with a client or having them feel good when they leave and I don't know like I don't know where there's room for that and outcomes based research like a client feeling good or a client feeling satisfied I mean I guess satisfaction matters but that's part of what I struggle with is that I sort of think that the way this trial will go is that the patients will still value seeing a person but it's gonna be kind of back to this like personal utility concept of it's hard for us to understand why they're valuing it you know maybe they're not learning better maybe you know maybe they're not making different healthcare outcomes and so then does it matter if they just feel better? But if they sat down with you for an hour the thing is located as a specificity right because the truth is that there are many people who we could grab off the street who have no indication for genetic counseling and if they hung out with you and you talked nicely to them and took interest in them you would see an effect and they'd say they were really glad they talked to you so we have to be really careful about that and I like where some of this discussion is going to because just to combine the last sort of three I think it's entirely possible and remember I live in the wild west right I'm at Stanford where people just get their genome sequenced and show up and they're analyzing their own data and nobody's measuring or studying anything and we're like okay we're just gonna try and help and get involved I wonder if there are a lot of things that even right now we think have to be a face to face thoroughly counseled encounter that will end up in a web portal right so a lot of the things Megan that take up so much of your time that many of those may get shuffled and that loops back to the sort of earlier data this morning about people being underwhelmed by certain results versus the families with real disease burden and distress around their risk and them actually kind of maybe needing more of our time versus the other conversations we've had about the public health aspect of our job where when we have a true actionable incidental finding what can we do to intervene to get people to work to get people to communicate that around the family get people tested get people screened who are at risk and so yeah just kind of bring those things together and seeing where that threshold may shift and how we can do that in a data driven manner I think the other thing just one more thought again like just going back to the sort of real world versus not perspective now that we're living in a place where many general counselors are billing in addition to just the workload that Megan was describing we also get a lot of push where I am to see more and more patients and to bring more and more revenue and some of the benefit of that is it means we really have to be like what is something that requires my brain my brain, my face versus what doesn't and some of that we can do just based on our judgment but increasingly having an evidence base for that would be really valuable I think even if we did have good enough outcome data whether it's certain things that already exist now or other things that we find in the future for people clicking through to get their results if you had something that they had to click through in order to get the results kind of similar to click clicking through consents for a survey it would you know measuring not anxiety but something that we determine is useful and they're clicking through and they automatically get flagged for certain values so that even if they access their results to the at nine o'clock they somehow get flagged in a system if we've helped design it that then that basically necessitates a phone call so even if they've fallen to a category where they may need to discuss things further they're not calling Wednesday morning it necessitates a phone call from a genetic counselor or a healthcare professional that by Thursday say 48 hours someone has to call and check in on them I think that could be another another way of kind of tying technology in saving time that's a good idea and if you think about the literature from the cancer genetics arena the most consistent result is people who had psychological distress at baseline are the ones that are most likely to have a more psychological difficulty at the other end I wanted to make the comment going back to Colleen following on Colleen's comment I think that not only do we need to think about best use of our resources to keep ourselves in the game and doing important work we also need to think about that in terms of preventing burnout even though I like doing this content study I wouldn't like that to be most of my job I don't think Katie you would like to return carrier results just factually for the rest of your life and so I think it's important to think about how we are stimulated in the work that we're doing and that we're doing high level engaged work with clients and as much as we can offload some of the basic education we talked in submarine I don't remember if it was here or another meeting the last couple weeks about the complexities of introducing panels to people and trying to do that in a prenatal or another cancer setting where you don't know the client don't have an ongoing relationship there's a lot of factual information to get across that's not how people learn is there a way we can deliver that information electronically ahead of time even old fashioned sending it to them in an email so that they can start thinking about it before they get there so that we're doing the work to help them sort through what's relevant for you what makes the most sense based on your family history what your insurance gonna pay for so we talk about the actual decision-making components instead of the information itself we need to be a little bit more proactive I think and that's far more interesting than to sit there and spiel off the same information about a panel a panel test yeah to follow on that one of the things that we saw in our survey of cancer genetic counselors about new panel tests and new things they're using is that in an open-ended question or we just asked how has your practice changed with the introduction of these new tests several of them said I'm spending less time talking about the specifics of the test and a lot more time talking about uncertainty and the various sort of meta level issues that come along with these tests which was kind of neat come with a specific research thought or question or idea that they really hoped would get addressed today okay I'll jump in because we were having that side conversation while you said that Barb so I I heard you no no this is so far out but for years I've wanted to do the study that's kind of come up with Matt and Eric talking about how genetic whether genetic counseling or what genetic counseling interventions impact the uptake of either predictive genetic testing or phenotypic screening in cardiology and since Matt's come over to the dark side he's gotten very interested in that as well and so we were just like we need to do that study and it's so only that's really all the places I mean I haven't done a literature review I haven't but it's so relevant to what we're all talking about so what's out there is basically retrospective review of clinic data right so how state had a cohort they followed for years and then a group I think in the Netherlands where they just went back their intervention was their counseling and their letters and they looked at the number of family members that came in I mean it's just using clinical information and then there's the other one so there's one Australian study no Tasmania Australia that it's perspective and randomized and the intervention was a family letter and a counseling follow up and they had a two point I just put this in a slide that's the only reason why I know this so well two point six fold increase in the uptake of services by at risk relatives yeah and then there is some stuff in other settings but in cardiology that's it so I don't know if that's something that people want to talk about I don't necessarily want to put that high on the list because I don't know that I'm going to commit to doing that anytime sooner that you are Matt but it may be because it fits in with some of these other themes like how does our work actually affect real health outcomes it's relevant both for the families we care for who have known Mendelian disease and that's why we're already caring for them and it's relevant for the incidental finding families I mean I'd be interested in that as well I mean not even just cardiology specific but across other diseases and I think pharma would be interested in that as well with these trials trying to identify at risk family members so I think you could probably get by and across multiple agencies and I think it's important to differentiate to there's several things we're talking about here but two specifically it's fine not to know exactly what it is about meeting with a genetic counselor in a study like that all you're trying to show is that meeting with a genetic counselor is different than not meeting with a genetic counselor in terms of increasing an important practical outcome right we all agree and so that's about use of workforce right and who needs to be in the equation and what a hospital or a industry a company benefits from as a result of having a genetic counselor there that's laudable research that's very different than what do I do when I sit down with a client it helps them make a more informed decision and have better psychological long term outcomes harder much harder research question to answer I wanna know that for a lot of reasons that have nothing to do with the practical outcome of whether or not the person is going to follow up on their test result right I want to know am I being effective cause if I'm not I wanna know ways to change that I wanna know ways to teach it so I'm always thinking about this cause most of the things we teach you we don't have evidence for which I still find very humiliating and embarrassing and conceptually I think we can improve the literature about how genetic counseling is described what our components are what are essential for somebody to be in a credit or a board certified genetic counselor I think drilling down into those details is again important for defining what is genetic counseling but those are two really different and important pursuits that don't have a lot necessarily to do with one another and one doesn't I think the first one is the one that we're most interested in or that we've been Yeah Do you think you could time do it I mean I'm just thinking you know with the studies showing that genetic counseling increases uptake I mean wouldn't it be interesting to see what part of the genetic counseling to make increase the uptake even more you know is there something specific about those sessions Sure What's the active ingredient Sure That was what Lori referred to earlier as a multi-layered study where that can be your primary we can speak for yourself And then a content analysis like partly if you're especially if you're doing a multi-center or multi-genetic counselor trial which something like this most likely would be right if you are using and you could try to if you tried to control somewhat what was happening in the room but or if you didn't either way if you record the sessions and then you do some sort of analysis of that whether it's Ria's or something else and see then what correlated with your outcome if that's uptake And all I was going to say was that there are lots of ways to approach this as I've already coming out but I think that the beauty of having all of you together all of us together in one place is that it starts to become clear that a lot of these studies require lots of patients and lots of lots of cases but if we could do this more collaboratively and if you had several centers on board and you said here's our question here's how we're going to approach it we have we become it becomes much more feasible I think about doing these sorts of things so I'd love to see that happening more there's so many of us now that we really it shouldn't just be a pipe dream at this point it could be a reality pretty easily and some of the things digging into a little bit what you were saying Colleen looking at the variation across counselors in order to do that well and tie that to outcomes you really do have to have more than just you and Matt counseling it would have to be because my guess is your style isn't going to change that much from patient to patient you are going to have very different interactions with each patient but your style is probably similar so you in order to capture variation amongst counselors and get really get that if you're not doing it in a systematic way you'd need to have twenty five thirty different counselors involved uh... that's where we really the bolus of people in a whole lot of cases I think the behavior change is really interesting and just thinking about like the the cancer families and I've had a lot of profound counseling sessions where uh... this one particular woman which is found out a BRCA mutation her daughter was tested she's forty four at the time recommended that she have her ovaries out of course she's found out a variant cancer when they took out her ovaries I think that sort of scenario is can be really powerful in helping people to change their behavior and then I mean these are anecdotal but I had another case where it was a woman who is unaffected had this strong family history of lunch syndrome was tested at Hopkins back in the early nineties her brother had an MSHT mutation that she was found not to have so basically she lived her entire life thinking she didn't have lunch syndrome and there was a cousin in the family who was found to have an mlh1 mutation and told her about it and said that she should be tested and I think she was just intellectually interested about it in general and wasn't thinking that she'd be positive and it came back that she tested positive for this mlh1 mutation and it really just shook things up for her and I recommended that she see a gynauc and have her uterus removed and of course she was found to have stage three endometrial cancer whenever she went into the surgery so she was dealing with that and then I saw both of her children and tested her son he was negative and then her daughter who's I think 23 tested positive and it's just had a ripple effect in this family just knowing that this mutation exists we're still trying to figure out the MSH2 mutation in her brother and you know he he did research testing he didn't actually see a genetic counselor and have it like certified in a CLIA certified laboratory but I think just seeing those families and just seeing the ripple effect and how much effect we've had on these families I think can be really powerful in terms of behavior change and really justifying genetic counselors because she kind of went undiagnosed underneath all of her doctors all of these years so one of the big things that comes to mind is decoupling the counseling from the testing in a study like that yeah so Sam can speak to that she's over on the side leaving enough room for all of us to sit at the table but we're on our third summer of the same embarrassingly systematic review of randomized control trials and genetic counseling which we are going to submit and one of the things that's clear how many do we have included 35 40 no that's what happens when you delay publication there's more and almost all of them conflate testing and counseling and what I mean by that is the outcomes come from both receiving a result and having undergone genetic counseling so you don't know if it's the combination of the two or one more than the other you have it's they're really they're not all intended to be randomized controlled trials of genetic counseling but some of them indeed are and you really that's quite a large claim that I'm not sure as well substantiated when you get improved outcomes on the other end so we need to get the word out I know of one study out of Utah where they've taken great care to decouple the counseling from the testing but it's actually very very rare and that's a way we could make a big difference in the literature and it would help us to start to really tease these things apart have there been any studies of like follow up genetic counseling and by that I mean like when I was at Kennedy career there was a fragile ex clinic where they just have historically forever not wanted a genetic counselor and then they finally threw me in there for a few months because you have first reasons that are arcane and and you know there are families who had had counseling years and years and years ago but we're dealing with the diagnosis and grappling with its immediate implications and had not remember anything about ex linkage or fragile extramaritaxia syndrome or in her you know and so we kind of went through it all again even though their testing had been like five ten years ago and I think you know that was very difficult to get reimbursed but I think that the utility of those tremendous because they're much more adapted to the diagnosis by that point much readier to hear the you know more locked downstream reproductive planning implications and adult onset implications of related disorders and that's another I think way of decoupling the testing from the counseling if you just kind of look at it as almost an update a refresher family history you know primer because families change and of course what we know about the disorders changes too so I mean there should be some utility to that I would think I seriously am kicking myself I mean I probably counseled 300 hypertrophic cardiomyopathy families who already had genetic testing and I mean it was a hundred and twenty percent clinical job there was no research time but it should have worked with one of you to study it while we were doing it because I definitely so this is the other thing is like part of what you want to study is what you see anecdotally in clinic and then you want to see if what you see is real right and I did see that more people family communication was better uptake of screening and predictive genetic testing was better once I joined the team even though all these people had already had genetic testing and actually had genetic counseling by a very good physician just not by a genetic counselor so so how do you find that I do that you know and then the other thing it's true that that's tricky about this also is what always happens when you want to do a randomized controlled trial that doesn't involve that involves ditching the standard of care for one arm right is the fact that none of us want our patients to go have genetic testing without pre and post test genetic counseling in in most genetic testing scenarios so we would have to you can wait list them yeah that's a good you can also step up if you really are running into trouble but thought I had it on sorry if you're really running into trouble in terms of figuring out how do you ditch the standard of care think about what the standard of care minimally actually is I mean it's you probably wouldn't be happy with what's considered standard of care but there are ways to design a study where you're giving people what you could probably feel comfortable with a standard of care giving them and then putting them on wait list for more enhanced care later it's what are your what where are you actually comparing to and you could even think about a three arm study where you've got minimal genetic counseling genetic counseling delivered in one fashion and genetic counseling enhanced you know it's where you'd really that shows decouples it's not just about the test it's about specific counseling interventions that you'd then be looking at I think what I really like that we don't see clinically necessarily and so maybe we don't think about those populations enough because we're not seeing them in the clinic but they could be really ideal research populations from so many levels and in so many ways I feel like another thought related and it's decoupled from testing too and you could you could really play with intervention and there's no standard of care if they're not being seeing otherwise so you know you could get really wild with your interventions and yeah so I mentioned earlier that recombine is trying to look at patient experiences with expanded care screening and as part of this we're doing genetic counseling for most of the patients because they're coming from clinical centers where there are no genetic counselors no one really understands genetics but in many cases some of the doctors choose not to have their patients have that post-test genetic counseling with us and of course it's debatable whether that's equivalent to face-to-face and whether that's you know provided by lab and therefore conflict of interest and all of that but still there's some people patients having genetic counseling others not having genetic counseling others being seen by and referred by genetic counselors and then getting the pre and the post-test genetic counseling so this has really got me thinking about different ways we could use that as a model to study this kind of difference between outcomes from genetic testing separated from counseling or not and the other kind of random comment I had was this whole talk about genetic counseling and test utilization so increasing uptake recommending genetic testing as a good thing as a good measure and outcome of genetic counseling which is really interesting anecdotally because what we find in those doctors that out out of genetic counseling is they feel genetic counseling increases their reasons to order testing and they don't want to deal with that they'd rather not know from a liability perspective and then also from a very much like what if we miss it kind of issue but also we just don't have time so we'd rather you don't tell us they have family history of cancer and so some of them have then started doing these weird things like yes do the genetic counseling but don't take a family history I would hope that it's not just really about utilization and increasing tests but really perhaps appropriateness you know which is I think not often addressed or you can find that that's not the case especially when there's primary care physicians ordering testing yeah and to some extent I think it's more the reimbursement environment too where they're getting tracked on how much money they're spending and this just gets added to that to change the subject all together one of the areas that's come up a lot from students in supervision and some from some of the clinical supervisors as well and as a concern of mine is there's a lot less overt risk assessment being done in the clinic I think I say overt on purpose because I think genetic counselors are still doing risk assessment in their heads I think we get so used to our area of expertise we don't export that very overtly for students sometimes so it's going through the supervisor's head but it's not being transmitted to the student overtly which is fine those supervisors are not obligated to share every aspect of what they're doing but it get it is harder and harder if I'll ask a student in supervision you know what was the risk for blah blah blah they'll often say that never came up was never you know never discussed with the client and these are most often in cardiovascular or cancer clinics where testing is being offered and I've been met all you graduated from here so you've all heard this bandwagon but I'm obsessed with the idea that testing is leading is the instrument by which we're serving people rather than risk assessment which then leads to offer of what is the most appropriate test for people and even to the point where the actual chances of somebody developing cancer with or without the test is not communicated and I know that because I listen to the tapes and I worry a lot about how we train genetic counselors if they don't know how to do risk assessment I think our bread and butter is not ordering the right test as much as it is getting a really really good risk assessment so that we know what test is the right test to order and so I I wonder if people have thoughts about that and I actually raise it in this forum because I think it's an important research question because I'm now pretty inundated with it anecdotally and I wonder how generalizable it is it's one thing I'm working with I have a student right now and I think he was kind of using the genetic testing as a crutch for the risk assessment and I basically just said don't talk about testing just do the risk assessment I'll talk about the testing and I think it can be really hard because you see a family with breast cancer and you're going to recommend a breast cancer panel and so you're talking about BRCA one and two because they're they're the most common but then there's all of these other genes and I think it just gets so muddled that the risk assessment just turns into into talking about testing and here's the breast cancer panels that we can do and here's what they mean and I I mean I agree with you I don't know how you would study that though one thing I've wanted to do would be like an intervention study would be to take sort of like the jar model that they've used in the psychiatric studies and bring that into cancer and tie it to a risk assessment and test it as an intervention I think could be kind of neat because you both have sort of an educational technique maybe you would be all confounded but you'd have an educational technique that would also bring apart the risk assessment piece and would give you sort of a granular way to talk about your risk assessment or to categorize your risk assessment that you could study I don't know if this is relevant to what you're talking about bar but what I see happening is um I feel like more than I used to my students really come in with the focus of what they're supposed to do with the patient is talk about genetic testing and I'm like whoa whoa whoa that is like a tool that we use it is one portion of what we do but there's all this other stuff that we do that if we didn't have a genetic test that we would still need to do with this family um and the like I don't I as you're saying that I'm like I don't really do risk assessment because the cardiovascular diseases I specialize in are all Mendelian by definition kind of so as soon as there's a diagnosis but uh so I don't know if my practice has changed around that but I do notice that phenomenon with students in terms of them kind of being all about the genetic test and I don't know if that's something they're getting in their prior rotations that I then have to kind of pull them back from just similar to what you were saying I kind of wonder if this originates from the expectations of the clients who walk into the office and this goes back to what we talked about last week with Janine and how like our practice should be more psychosocial but often that gets pushed to the side in favor of education and I wonder if it's because people come in having been referred by a physician who says you need to see this counselor because I think you have a high risk of breast cancer and you need to get this test done and so they come in with the expectation that we're going to talk about testing and you're going to tell me what tests I need to have done because that's the way doctors offices work I don't come in with the expectation that we're going to talk about how difficult it was to lose my aunt to breast cancer 10 years ago and how that's influencing my own risk perception and I wonder if that is a barrier to a lot of this that we didn't talk about last week but I left in my head and we have patients call all the time and they want they want testing and they say what is genetic counseling and I mean you know even just from a billing perspective we can't just bill for the testing without having the counseling but you know to kind of explain that to patients they just don't really understand why do I need to sit down and talk to someone why can't you just do the testing and I think I struggle with that a lot but if you can jump through that hoop and do it I think it's worth it we get I got a lot of referrals like that they don't know why they're coming they're asking for a test if you can just put it into perspective for them and for you know patients and say really at the end of the day your family history is the most important if you have genetic testing and there's no mutation you're still at risk so I think it's just having the conversation you know I don't know how to study a real life we had a counselor that would just started with us and I had a learning curve because I went from prenatal pediatric and then into adult cancer and but it's a very different style and I know that when she was working at Kaiser basically it was family history and if they had a 10% or higher then they could have the test and so when she came it was a very different perspective of how she was approaching you know patients so it it's very I don't know how to other than finding people who are in your similar mindset and medical philosophy you know I don't know how you would necessarily solve just one more comment I won't talk anymore I think it's really powerful that insurance companies like SIGNA are now requiring that patients have genetic counseling in order to do the testing and I know there's a lot of backlash about that from ASCO and from one specific patient organization but I think it's really powerful to have at least insurance companies and I think we need the research to justify what we do but that that requirement is really based on on the their assessment that they will save money because fewer inappropriate tests will be ordered it's not based on well I mean it may be based partially on the set but I mean I so speaking as somebody who's and who's talked to a lot of patients who call in 2800 number and to ask about testing I can tell you that in the conversations I've had with patients we always I would always explain to them all the options that are available to them in terms of you can go to a genetic counselor you know we would certainly have patients call in to us and say my oncologist recommended I literally had a patient call once and say my oncologist wants to do this test for me but my hairdresser says I need to see a genetic counselor and I mean that's not what you'd expect but but we we always talk up genetic counseling as a as this as the best option for getting genetic testing because we're all genetic counselors and we we support genetic counselor but you have different conversations with people some people when they when you explain to them what the difference is between getting tested by a genetic counselor and getting tested by an oncologist a lot of people will say they want the genetic counseling and a lot of people will say they don't they'll explicitly reject it as an option and people express different preferences some people will say my preference is to go to the hospital down the street because that's where I always go and it's it's not a question of driving three hours it's not a question of waiting you know how long you have to wait for an appointment it's a question of their preference as to how they want to get the service now some of those patients may be making a bad choice right they may be saying they want to get the service a certain way and they would be better off if they got it a different way but some of them they might also be making the right choice the thing is actually I actually don't know right so if we're looping back to the question about research questions that are important to our patients I think that might be one of the questions to ask is is what is the best service what is the best way to predict what will be the best outcome for an individual patient because it may be that I mean it's ridiculous to say it may be it's not going to be the same for all of them right some of them will benefit they they people have different ways they're most comfortable in getting their health care and maybe we need to think about doing research to figure out how to be more adaptable to people's individual needs well one of the things I love about my practice is that it's sort of um oh I've heard someone call it I think gorilla genetic counseling so uh the many of the patients have no idea they're going to see a genetic counselor they're coming to a specialized center for inherited cardiovascular disease and mostly the majority of them are seeking out the cardiologist and then as part of that they get a genetic counselor with one of our counselor genetic counseling with one of our counselors and I when I originally joined the team I expected there to be a decent proportion of people who were like I don't want that that's not what I'm here for and it like never ever happens and I think it's partly because we're just embedding it and care that they're already getting and then we make a point of being very tailored to your point Eric it's you know being very okay with the fact that some people need and want a fair amount of counseling and some people may not need or want as much um and you know we're a long way off of having all genetic counseling happen in an embedded fashion where people are already accessing other medical care but uh I would love to see that the benefit of that kind of totally embedded model um studied so to your question a moment ago about um risk assessment and genetic testing I mean I'm not sure how excited Laurie feels about doing another genetic counseling video project um but I mean I'm fascinated by what you said Jillian the fact that panels it's so counterintuitive but then it kind of makes sense at the same time if panels could be reducing the amount of time that somebody spends talking about an individual gene like BRCA1 with a patient knowing there's a panel of a couple of cancer predisposing genes and you can focus potentially on more counseling issues rather than on this gene is autosomal dominant and et cetera et cetera I just find that fascinating we wondering if we did that again with the test testing that's available now I mean we didn't we haven't talked about non-invasive prenatal testing for goodness sake I mean that's I mean I guess I'm not sure if there are that many prenatal group in the group but boy that has shit I mean I it's fascinating as we don't even do it I remember pediatric it's so like oh my gosh so um yeah do another video project nobody yeah worst deb so Laurie your next video project so when you were talking about style um how would you then discern style versus content and try and identify what works in a genetic counseling session it's really hard to do unless you have the numbers right so the way it ends up if you want to be able to disentangle all of the different things that happen and figure out which things are having impact in that way you have to have a enough variation on the different you know and content and enough variation within on on particular counseling styles to then tease apart and see whether combination of style and this content versus combination of this style with this content has differing outcomes so you when you're doing it the way we did in the video project we were relying on just happenstance that there was going to be enough variance and in some cases there wasn't in some cases there wasn't in certain things we wanted to look at we couldn't because there wasn't enough variation but if you have hypotheses you can actually instead of doing it as we did as a descriptive study with outcomes tied to it you can then design a study where you say well I'm going to I'm going to do content this way and I'm going to do um the counseling piece this way and then I'm going to have another arm where we do the content this way and the counseling piece this way and you design it that way systematically up front instead of waiting to see what happens so that requires many fewer counselors and is easier to do logistically in some ways but harder in terms of having to standardize the work that genetic counselors do we've done Katie's is now the second study where we've done it and we in both cases tried to decouple education and counseling and we all know that all of us at this table do this you know we're we're integrating the two of them so to make them so distinct is a bit of an artificiality that we have to do it in order to standardize it but maybe you could do that with like the um virtual reality or like a standardized session or with the simulated clients like you guys did in the video project stay tuned we're working on it one of the things I'd love to see in your next video project Lori I'm thinking more about students and how students are trained I I feel like my obsession when I work with students is do you have a relationship do you know who this person is and the difference between having rapport and like actually knowing who they are and I have this image in my mind when I'm working with students about like almost if there was like a little lights on the bottom of the screen like relationship building backslide the relationship building you know and feeling you know when they give you some piece of information like you know I was just so surprised when I was diagnosed and what age was that you know like when people when people say something that's biomedical and sociomotional and then like where people respond and I imagine that little like blinker set like bing bing bing bing bing you know going backwards so um yeah just that's a bit out there but just thinking about how we teach students about building relationships and their ability to see that in a session especially I you know I feel like a lot of the students I work with really want to do something they want to do something with their clients they want to help them but if you don't know who they are you can't do the ladder and I think sometimes they get a headed themselves you know trying to do the ladder I work with a lot of students from the New York program so it might not be kind of the same types of things but I think tying into like the idea that we're doing I think a lot of them like you said Colleen are very focused on the like genetic testing component and knowing what we're going to order and just launching into that and giving the information um but a lot of it that I think the students I work with struggle with is just providing context so that kind of ties back into the risk assessment maybe not so much with peeds and prenatal um that I do but if you're just explaining information or panels maybe they would understand the education component equally well as if you had some sort of module and we were doing a virtual um educational component maybe they do do the education very well which is great but then how is that different from just learning on an educational module and clicking yes I accept this test is that you're providing framework for them and you know more or less like a social in terms of if they have great concerns about their family history or their prior life experience um but just saying like why are you talking about this what's the context for this why are like kind of framework is what I think a lot of the students I work with um are kind of losing in in lieu of going for the testing and like what condition are we talking about I wonder if you guys are feeling game to do a bit of an exercise um I was thinking back somebody's question reminded me of an outcome study we tried to do bar bird heart and I did with Carrie master marino who is one of lori's classmates um I conflated two thoughts there so deb um barb and I um designed a focus group study of genetic counselors very senior genetic counselors um to get them to talk about what are their desired outcomes on the other end of genetic counseling so it's just like a brainstorming session how do they measure up a good a good session what do they want to see on the other end and gale galler um facilitated those focus groups for us I nearly ruined them because I sat in on them and literally could had had to had to sit on my mouth um um because the two most common outcomes were how much information people learned and whether they were anxious when they left and when gale was probing them and trying to get them to think about other possible outcomes nobody said anything for a long time very senior people who people I admired and looked up to I had such an existential crisis I've obviously not gotten over it and so we moved from the focus groups which we never reported on to do interview studies with prior genetic counseling patients to try and get the data that we couldn't get directly from the genetic counselors because they couldn't articulate what they wanted to see on the other end of their sessions and interviewed people largely who had come through the NIH because the counselors were willing to go back and recontact their patients and because they had more longer term relationships with the patient so they were more willing to ask them so it was completely biased it's too small of a study it's not generalizable but it carry analyzed the data and then helped us write it up and it definitely gave a a good insight into some thoughts and ideas about what the client see as desirable outcomes and since then I've really been looking for it haven't seen a lot of work continued to be done in this area which I think is disturbing and I also am still haunted by the fact that I think what clients are saying they want still may not map on to what genetic counselors want to see as the outcomes of their sessions and Jillian and I were in a panel at NSGC a couple years ago we sort of pushed conversation about what are desirable outcomes and I think we still have a lot of work to do about that and I'm specifically talking here not about practical health services research about whether we're cost effective whether the hospital benefits of a genetic counselor sees the person again that that's laudable important work but what I'm talking about is in a one-on-one interaction with a client how do you know when it's gone well what outcome are you seeking whether you can see it that day in front of you or what you hope for six or 12 months down the road for that client and I wonder if you guys would be willing I won't go around the room because that's too mean but if you would be willing to just sort of throw out some of your ideas about what you think you know what represents a good session to you when you get off the phone or you walk out of your office when do you think a session has been successful I can think of one for a patient of mine where it's sort of like an aha moment happened where there was a familiar mutation and distant relatives and she did not have that report and she had gone to UCLA some years before and she wanted the test now she was ready and it's been eight years after and when she came to me and I said you know it'd be really great we should get that report from your aunt or whatever and she was at first came became defensive that I wanted to withhold the test from her and I said let me explain to you why that makes the most sense for you and then of course I did pursuit it but in that trend in that phase of that the session she just went oh I see she went from kind of not wanting to get in touch with anybody in a family they live somewhere else to calling her aunt right then and there and we got her aunt on the phone and her aunt was going to fax the report and everything so I don't know there's different different ways I tend to check in a lot with patients does that make sense do you understand so let me let me stop you there so that's sort of a practical outcome where somebody acquired additional information that could help them so I mean those are that's one kind of outcome where something gets advanced in terms of understanding in a family and risk can be firmed up a little bit more what are other outcomes where you would you would feel that something had had been successful for me when I think about not necessarily the outcome as to whether or not that session went well but like what am I ultimately trying to achieve I think one of the big things for me is a reduction in decisional regret where a lot of the everyone who I see is participating in research we have a number of clinical trials that are either happening or about to happen and most of these are early phase clinical trials where the risk is very real and I have been involved in some studies where we have had serious adverse events so you know in my genetic counseling how can I help people to make the best decisions for themselves to participate so that at the end of the day when all is said and done they're going to be able to live with themselves for whatever decision it was that they made and I think that I'm very kind of sensitive to I think what's been described in the literature where people are more likely to regret something that they have done rather than something that they have not done and considering that a lot of these early phase studies include very small numbers of participants most of the time the decision is really up to them and trying to weigh all of that in and ultimately make them feel good about the decision that they've made regardless of outcome so is there a way that you realize that that's happening sure so I think a lot of it has to do with especially for the research participants who are coming in very frequently there are lots of opportunities for counseling to see you know how they're thinking about things and how their expectations have shifted over time so what was their expectations their hopes going into the study and you know as what happens in the study starts to play out how has that shifted and how is that related to you know whatever psychological outcome you're you're assessing so is and I think regret is something that people can very obviously demonstrate in an interaction so I think that there's a lot of ways where you can get the person who you know this is exactly what they need to improve their life and then you know the next thing you know you're talking about we now have a problem and I work in the eye clinic so you've now lost vision and this was a risk that yes you understood but of course never expected to happen to you and just kind of following how people are thinking about that with my patients who have progressive terribly debilitating overgrowth disorders I'm looking for a discussion about loss and how how a meaningful discussion about adapting to the life as it as it changes and the losses that that that families have suffered from as they've watched their child or themselves per progress and I my sessions that that don't invoke some where I where we aren't able to get to a place where we're really talking about this substantial issue which is which is significant for for for most of these families are the ones that I feel I have not accomplished necessarily something that I was hoping to do so you know I mean we talk about it a lot obviously but having having a family lead with a framework for or new ways of thinking about how they're adapting to the ongoing changes that that they're encountering is a successful outcome or is an outcome that I'm looking to achieve in many instances I think just having a strong emotional connection with people so that case that I mentioned earlier with that family with the mlh1 mutation I honestly don't look at that family and think that I was successful because I found the mutation in the family or I helped her to you know to find find a cancer you know in an amount of time that she was able to get treated I think just the the connection that I had with that woman was so strong and actually in the follow-up discussion that I had with her I had her come back in for the follow-up disclosure I spent two hours of time with her sitting down and talking with her I I think I tested her about two years ago I probably talked to this woman at least once every few months and she's very interested you know in medical information but I've I've just felt like I had such a strong connection with her and I think that that's helped yeah so so let's think about that how do you measure that or how do you know when that's happened I think it's the same question Jane asked Amy I mean that's really important that's a description but how do you know what's a what's a strong relationship well and can I can I ask the question at the same time which is is the connection the outcome or is the connection the process by what you get to other outcomes I think that's the outcome is that she's supported and doesn't again have decisional regret and has information she can now use right and your process was to have a very empathic relationship with her as another one and this one I think Barb you alluded to this and it drives me a little crazy in the decision making literature as well but one of the things that I know I focus on on my counseling is clarifying values and I do feel like if I was asked to think about what is it what is something that I've recognized as an outcome regardless of what people did behaviorally that if that one short-term outcome is having people be clearer about how they're feeling it's it seems more immediate in the even well not more immediate more obvious and when I'm counseling couples when you can see oh I didn't know you felt that way I didn't realize we were not on the same page and when you get to those sort of moments you realize that there's been something that has happened and so I that I think falls into the larger category for me of of values clarification how you measure that and measure it well I still struggle with but I think one of the things that I think about in my counseling is the uh or when I feel like I've had a good case is when I feel like I can see a client become aware that they're making choices that were previously unapparent to them that you know that they're just sort of reacting and they're doing what they do and they're doing everything that they can and that we're able to talk and provide enough sort of context for their experience and how they're you know how they're dealing with this situation that that they're able to see that perhaps there are other choices that they can make and that it gets them on the way to uh eventually making choices that perhaps serve them better but it's that moment when they see like oh no that actually is a choice to to respond this way like that feeling of perceived control almost yeah I mean I think that's true across all areas of genetics too I'm thinking I was just trying to think you know we're to neuro genetics and high risk prenatal and it's always that feeling of you know we're in this uncertain situation or with an something that's not you perceive as not under your control and people are just floating in this area and to bring it back down and center them I think it's very powerful and related to that I think self-efficacy across a bunch of different domains is probably a big part of my practice like I feel like I look from for my clients to leave feeling like they um they feel better able to deal with their condition or their risk that didn't come out as clear my head but I've been floating around this thing and like I think it's self-efficacy I think it's yeah and one of the things we've measured more recently in a couple of those student studies you can speak for yourself um is coping efficacy just their confidence and their ability to cope um a word I um just think of now is empowerment and how that comes up with self-efficacy and control and being able to be fully empowered to make those decisions in those situations whether it's um enacting on your child's medical care or taking that next step to make that next decision or make a decision to not do anything I think um having that feeling of empowerment or something that I don't know how it's been studied or if it can be studied I think that's my biggest issue with it I think it's a really important word outcome word for genetic counseling but I don't exactly know what it is and how to measure it and so I I've always struggled with it I think it is increased perceptions of control maybe it's other things at the same time but I think it's worth thinking about um um Miriam McAllister published an outcomes list of genetic services which includes a lot of different outcome measures because she studied clinical genetic services generally so it goes beyond just genetic counseling but it's worth looking at and I think she calls it an empowerment model um again it has a lot of different so many components it's sort of overwhelming for me so I think you're dead on Sean I think and it might be a framework around which we could talk about outcomes of genetic counseling being a number of different things under empowerment I think the word alone doesn't isn't well defined in my own my own head it also doesn't carry a lot of brokerage in the social and behavioral health related world so I'm always trying to find bridges for things that they've already known how to measure and know how to think about and relate to that we can borrow from and you know and share data across and they they don't do empowerment they just look at me funny when I raised that word so we're really into our break and I wanted you guys to have a long break because we've worked really hard does anybody have anything else they want to say before they have some coffee, tea, or cookies? Oh oops