DNA Today: A Genetics Podcast

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#161 Phenotips: Digital Tools in Genetic Counseling

by Kira Dineen
November 5th 2021

DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring disc... More

how is it that we find ourselves surrounded by such complexity, such elements, jeans, you and me are all made of DNA were all made of the same. Hello, you're listening to DNA today, a genetics podcast and radio show. I'm your host here Dean. I'm also a certified genetic counselor practicing in the prenatal space On this show. We explore genetics impact on our health through conversations with leaders in the field. This episode is a special installment. We are sharing a recording of the fingertips speakers series. There's a monthly webinar that's hosted by myself and sponsored by photo tips. During these live events, I interview leaders in the field of genetics and moderate questions live from the audience. The next live webinar I'll be hosting is on november 23rd at noon Eastern. I'm excited to explore the future of cancer genetics in this installment. So you can check out all upcoming installments by heading over to fino tips dot com where you can also stream all the webinars in the last year and a half.

So I hope to see you at the live event again, that's november 23 we're going to be talking about the adoption and impact of digital tools and genetic counseling. So we're going to start with a 45 minute panel discussion with our lovely panelists here and then we're going to be answering your questions at the end of the webinar. So a little bit about our sponsor of the series. Fino tips. They're the world's first genomic health records system and they've designed to software and services that bring workflow to genetic professionals like us. So they have developed tools like pedigree builders, standardized symptom capture and diagnostic insights. As many of us know electronic health records are not designed specifically for genetics. Sophina tips saw the need for this and fills in those gaps by really designing a complete suite for genomic medicine. So in light of the pandemic tips is sponsoring the speaker series so that we can all learn from home and we're all learning from around the globe during the series.

So it's very exciting to be connecting with all of you. As I mentioned, I'm your host here, Janine, the host for this webinar. I'm also the host of the podcast DNA. Today, we are very excited that we recently won the people's choice award for the best 2020 science and medicine podcast. So we've been making podcast for the last eight years, We've got over 130 episodes of conversations like the ones we have today, all about genetics um and scott Weismann was on an episode about four years ago, so there's certainly a lot of familiar faces that have been on the show. Um and I'm also a prenatal genetic counselor um during the day. So as I mentioned today's webinar topic is going to be talking about digital tools for genetic counselors as genetic counselors. The four of us are very busy and we're relying more and more on digital tools to be efficient, prevent burnout and so we're going to be talking about all of the advantages to using digital tools, but also talking about the barriers that we face in adopting these tools either as genetic departments or genetic counselors ourselves.

So exciting topics that we're diving into with these three experts today, I'd love to hear from each of you just to introduce yourselves to the audience. Andrew if you'd like to start, that would be great. Sure. So my name is Andy Mccarty, laboratory genetic counselor at Perkinelmer genomics and manager of genomic client services um In my limited free time, I'm also founder and operator of clever genetics, which is a telehealth private practice that focuses on improving access to genetic information and services in underserved areas. Um I have varied interests but certainly interesting neuro genetics, immune genetics. Anything to do with telehealth and really using technology to improve access to genetic information and genetic services. Fantastic scott. Would you like to introduce yourself? Yeah. So my name is Scott Weismann. I had too much genetic counselor by training. I've been mostly working in the adult space for my 20 years with really a focus on cancer genetics. I'm currently the lead of cancer services at Gino medical and like like Andy and my limited free time.

I also have a private practice in the Chicago area called Chicago genetic consultants where I'm seeing individuals who have done their own genetic testing, looking for help with interpretation for direct to consumer testing or consumer directed testing. Um and have been doing that for about four years. So thank you for the invite today. Fantastic to have us. So Amy, would you like to introduce yourself? Hello, I'm Amy Taylor. I'm lead consultant genetic counselor at Cambridge University hospitals in the UK. We are the genetic service that cover the east of England and I need a team of 14 genetic counselors and trainees. Um So I've been a genetic counselor for 11 years. I've been registered with the U. K. Genetic counselor registration boiled since 2011. And prior to training as a genetic counselor idea to PhD which was in the genetics of deafness. So that is one of my interests but my clinical interests now are more cancer genetics, cardiac genetics and I'm also the genetic counselor for our specialist clinic.

So we have lots of expertise covered throughout lots of areas of genetic counseling and what really brings you all together is your interest in digital tools. So I would love to hear how each of you utilize digital tools in your practice is kind of an overview so that people are more familiar with how you're using digital tools. Um scott would you like to start out on this conversation? Yeah, absolutely. Um so you know, with gino medical we are a tele genomics practice that is nationwide and so we have a large volume of patients coming in in order to really work with all those patients. We have to be efficient at the services that we provide. So we really kind of I thought about using digital tools in two ways. So one is by doing pedigrees digitally. So having patients may be thought of family history questionnaire that auto generates a pedigree. A lot of the tools that are on the market offer that kind of uh service if you will. And then some of these tools also allow you to run risk models for your cancer patients.

So instead of having a kind of pull out of a model go into a new one, we entered all the information. You can really do it all in one setting, which is definitely time efficient. And then the other digital tool that we are in the process of developing is really more of a choose your own adventure type of genetic counseling where we're providing video education for patients that would take them through the education process about genetics, cancer genetic testing with a series of videos that they can kind of pick and choose which ones that they want to watch. And then as we're going through those videos, answering questions about their personal family history, that's really allowing that to generate a pedigree where when the patient actually gets to the genetic counselor, the patient's been educated, we have a pedigree drawn. Um and then we're really maybe spending less time with the patients. But that time that we're spending is really more focused on really facilitating decision making about genetic testing and really allowing us to do psychosocial assessments of the patient's needs.

So it's really taking maybe the 45-60 minute process and perhaps getting it down to maybe 20 minutes face to face with the patient to a lot more scalability and see more patients. So it allows the patients to start understanding and conceptualizing these topics so that when they are face to face or telehealth meeting with a genetic counselor that they've already processed some of this information. You're not spending as much time on that more basic information and you're spending the conversation focused on their particular questions and speeding that along a little bit. Exactly. Exactly. There's a lot of centers around the country that have really looked at this type of model providing video education up front and it really is effective patients retain the knowledge the same way that they do with the genetic counselor. Um But again it really like you said, it allows them to come to the session with very targeted and specific questions and concerns that you can really then spend the time practicing at top of scope as a genetic counselor. Yeah, fantastic to hear of like that's the insight and how it's been working for General medical.

Um And so amy what has your experience been so far of using digital tools and how that's helped kind of your day to day practice. So our hospital went fully digital in 2014, 2014 actually. So we've just passed our six year anniversary. The paint. The transition was fairly painful. But actually it's completely paid off particularly now because you can just access everything from everywhere. Um working from home we can see all of our patients records. So we uh That's when we adopted fingertips and we did it because the hospital was adopting epic as our electronic medical record. But in an epic are developing some genetic specific tools but at the time in 2014 that was not really an option. So we needed a way to store not just our patients medical information but family medical information. And it's we previously had family specific files where would be storing information about multiple family members including people who we haven't seen but who had gathered past reports and so on on a genetic test reports from other centers.

It's not appropriate for us to put those on the patient's medical record part because it causes confusion. Somebody who doesn't look careful, you might think that a genetic test report on a relative is actually for the patient part because actually that's the patient's confidential medical record and they can request access to it at any time. So really everything on that record needs to be specific to the patient. So instead we've adopted for any tips as our family um information source. So it's where we store all the family history forms that currently our patients send back pathology reports, genetic test reports and other relatives and those are accessible anywhere. So I can be logged in and accessing those things at the same time as somebody else. We don't have to pass bits of paper around. Um And the other sort of more basic than that we're that we're doing particularly the moment is um video calling. So we're doing a lot more telemedicine. We started off doing telephone clinics were now doing some video clinics and I find that sharing the screen with the patient is a real boon in that because you know, so I can show them the pedigree as I'm drawing.

It makes it more of a shared space with the patient but other things as well. Visual aids which I was not able to use over the phone. I'm able to use when I do video calls. Yeah. So there's certainly so many aspects I feel like that you hit on and one of them most notably being that you can access this information from home. So during this pandemic so many people are working now from home and doing the telehealth consulting and just the fact that you're able to do that but also that patients can access their own information which is not going to be the case when you have um you know things like Cerner epic where you have such a huge large database that it's not as um teyla rubble to certain practices. So interesting to see how that's kind of happened for you, especially the last six years of having so many years now with this to learn and adapt from it and see what's working best for your practice. So Andrew would you like to chime in on how you've been using digital tools? Of course. So, so much like scott and amy, we do utilize the arena tips for pedigree trawling which has worked out well for us.

Um In addition, administratively, we've really looked at trying to use some tools to make the process more efficient as far as getting patients in um, triaged appropriately. So on the scheduling side, we've been working with some automated forms of scheduling, that sort of sort of like a choose your own adventure of, Okay, this is the question I have for the genetic counselor, perhaps it's a family history of cancer versus um some neuro genetic question and scheduling appropriately in that area. So, um, that's one area we've been using. And then as far as uh intake and pre screens, we've looked to develop a number of different forms that were able to use again too, make sure that the time with the genetic counselors used most efficiently so that we can can scale that and have more patients seen in a shorter amount of time, given the obvious shortage of genetic professionals out there. So those are two additional ways we've utilized beyond family history drawing. So we see just how many areas of it's not just pedigree builders, I think that's one that genetic counselors think of first when we think of digital tools but really looking at it from electronic health records standpoint of being bigger than that.

Um we've touched a little bit but like to dive into more of the benefits that you've seen of using these digital tools and you know, we've talked about like for us as clinicians, but also tapping into what patients are getting out of this to um amy did you want to start us out on talking about these benefits of digital tools in our practice is Sure. Um I mean access anywhere is helpful for us but it's also brilliant for MGT working. So when we when we're getting together as a team and we're doing most of our multitude multidisciplinary meetings on zoom these days, um it means that we can all see the same thing. So either when we're presenting a case we can Somebody can share their screen and show a pedigree. Actually the the other thing that we do is we're all on our on our laptops, looking things up at the same time. And actually in some ways it's more effective than when we all used to sit in a room together where there'd be one person operating the computer and now you can have 10 different people looking at different things um and all contributing actively to that meeting.

And so the kind of tools will be using that we're looking at variants on websites but we're also um maybe looking at the patient's record, looking at information that we've gathered on other family members at the same time. So that that's been um kind of progress in a way actually from from from when we were when we were meeting in person. And the other thing is even away from an MDT scenario, sometimes you might ask somebody for a second opinion. Um in the days when we had paper notes, you'd have to take that set of paper notes to them because otherwise they won't be able to review the information. Now I can literally just send a message to somebody. You can look at all the same information from wherever they happen to be. And we can either have a call about it or they can just send me a message back. So I think it's made those sort of discussions about patients which can be so crucial in making decisions getting the right expert input. It's made that much more fluid I think. Yeah, certainly scott do you have something to add into this the benefits of using these digital tools for you and patients? Yeah, absolutely. I mean, I think from the patient perspective, one of the things that we always have a challenge in the patient shows up for the appointment generally is you start taking the family history and they start asking questions.

You start asking questions like well I don't know if my mom had this or that and I call her my texture real quickly. So I think with some of the digital tools, patients can really log in see what they need, pause it, log out, call their family members and you're really getting a richer data set of what is going on in your patient's family history because they've had the time to ask family members up front. So again you're getting better information to provide risk assessment, do genetic counseling and make genetic testing recommend recommendations in those situations. You know, for the clinicians, I really intend to agree with what Amy said. I think having the digital tools really allows multiple people to be accessing the same thing at the same time. So if you are doing some sort of tumor board case conference, whatever it may be, everybody can access it can share it. Um and then again, I think for really when you're working with multiple families to be able to connect family members in your internal tools. So if you do have a team of genetic counselors and not the same genetic counselor isn't working with each individual in the family.

You have a way for your colleagues to see who else in the family has been seen what their information is, what their test results are. So that again, those individuals really have the most up to date information about those families really speeds it up to be able to link pedigrees together to say, oh we met with their brother. So let's bring in that family history and then just update it for that patient because maybe it's been a couple of years or something at that point of just do you think about how much time that saves? And I think we've all been there of taking a family history like can I call my mom or grandmother whoever because they're the experts for the family history. Um and so kind of saving that time is certainly very advantageous and to already have that information going into that. Uh Andrew. Do you have anything to add about the advantages to digital tools? Yes, I would certainly say organizational is one just being able to have all the pedigrees in one place. I know that's one thing certainly initially when I started great becoming a gc organizing things, it is a challenge.

So having these digital tools really keeps everything in one place, which I think is helpful and then sort of on the lab side of things, you know, having this data in a digital format makes quantifying it in a way that a lab can utilize easier as far as portals that can submit data like facial data as well as you know, pedigrees, things of that nature just makes that process a lot smoother. Um and then can help the lab better analyze the data that they're identifying through genetic testing and lead to potentially better, better outcomes, diagnosis, things like that. So I think there's there's that benefit there as well and certainly hope to see that improve over in the future. Yeah. So not only are we saving time making things more efficient, the quality of care ends up improving because we have all this information and because things are streamlined, do you work in a lab want to receive rewards when you order supplies? Check out Thermo Fisher Scientific's ASpire program. It's a rewards program created with scientists like you in mind, all members receive a free full sized trial product every year.

Points are earned every time you use or purchase products, rewards include science themed apparel, like a zip up DNA hoodie, check it out at Thermo Fisher dot com slash aspire hyphen DNA today for a limited time, you can receive 500 bonus points again, that's thermo fisher dot com slash aspire hyphen DNA today For 500 bonus points. See the show notes for terms and conditions and that link, do you know the power of apologetic risk scores? Apologetic for scores allow healthcare providers to more effectively help patients lower their risk of life threatening diseases. A silica has designed cutting edge tools to reduce the impact of common diseases through genomic medicine. Apologetic risk or analysis and reporting can be conducted through a Lilco secure interested platform their end to end apologetic risk or pipeline can determine a patient's absolute risk of common diseases through a simple file, upload of their genotype data, Alaska's apologetic risk or modules for new score discovery and validation performed the work of a team of bioinformatics shins. This enables researchers to generate the best performing apologetic risk scores using multiple gold standard algorithms, publication ready results can be achieved without months of bioinformatics efforts.

Learn more in our upcoming episode with the Lyrica in january. But if you can't wait head over to Alexa dot com Aleka empowering the next generation of clinical genomics. Do you or someone, you know how Prader Willi syndrome, you should check out a new clinical study in the United States. This study will be evaluating the safety and impact of an investigational medication on excessive daytime sleepiness, cognition and behavioral function in people with Prader Willi syndrome. Use the link in the show notes to learn more about the clinical study and refer a patient to a study center. The link is also available at DNA podcast dot com. More clinical studies for genetic conditions can be found nowhere dot com. One question that I was curious about is how patients respond to a digital pedigree as opposed to the old school pen and paper because when we're using pen and paper usually, you know, it feels like we're very involved. We're doing this together. They can see what you're doing as you're doing it. Um you know, for some of the cases like scott you were mentioning that sometimes patients are filling this in ahead of time.

So you're more looking at the pedigree that they've created themselves. But for patients that you're taking the pedigree while they're they're either in person or telehealth um what that experience looks like and Andrew, we could start with you this around if you'd like. Sure, sure. Yeah. So interestingly for my thesis in graduate school, I I looked looked at something like this. So we looked at taking a paper pedigree with patients and then doing a digital pedigree with patients And we found I can't remember the numbers off the top of my head, but it was quite significant. I think about 80% of individuals who had a digital digital pedigree taken and this was in 2014 or so. Um we're interested in having a copy um citing reasons such as you know, sharing it with their physician, sharing it with their um Their family to gather more information. Whereas with the paper pedigree, I believe it was closer to 10%. Um and you know, there's a lot of factors involved, there but I think it was just interesting to see that there's there's certainly an interesting or increased interest there perhaps based on how how the pedigreed looks um in that form or an interest at that time.

That was earlier when maybe some of these tools weren't as pervasive, so it's just you know, a novelty, but in any case I think is something I'm interested in exploring further as I think I can help with more communication to improve patient care. Yeah, definitely. And when it's digital, the handwriting is not an obstacle. So I'm sure that's a big part of it, of, you know, you look over and you're going through pedigree, you're trying to go through quick, they're talking about stories, you're adding this and that. Um, and then you come back and look at it, you're like, well it's legible, but it's not necessarily the most beautiful piece of artwork that I've made. Um, so I don't know if you have anything more to add to that amy of experiences of having patients have digital pedigrees drawn instead of the physical ones. I mean I haven't drawn a paper pedigree in quite a long time and actually we do a lot of our uh family history gathering prior to clinic as well. But I have always found when I show somebody their digital pedigree particularly withdrawn if they knew they way that we do it at the moment.

And we hope that we'll get to a stage where patients can fill in some information digitally at the moment. They feel in a paper, family history form, which then becomes a digital pedigree and they usually love seeing that it's kind of exciting for them to see their family in this format. And um, I also find when I either I take the pedigree in clinic or something, this is when, when I was using it face to face more so than now. Either I take it in clinic or I'm adding to it. So even if they've sent in some stuff beforehand that will be will be building it in clinic. It really feels like I think I know the paper feels some more personal but actually I think digital almost feels more like a shared space. They I would put my laptop between the two of us. Um Sometimes I get patients to type if they had relatives are difficult to spell names. Um And then it just does feel like a sort of a shared activity and they're really kind of contributing to to their consultation. That could be a really great way to do it so that it's it's facing both of you. Um if you are in person and if you're not then you can have the ability to share your screen and you know as you were saying before amy sometimes that's even better when everybody has their own computers to access that information.

So kind of taking away that barrier of the physical laptop between you. I'm saying all right let's work on this together. It's kind of a project for the next you know a few minutes to say let's figure out and build this family tree together scott. Do you have anything to chime in about you know the patient experience. Yeah I mean I think there's just two things you know one is just I think the idea that everything is digital right? There's so much on your phone and apps and everything else that you break out a piece of paper and a stencil sometimes you get like a cock eyed look like wait what are you doing like every other body another medical professional. I work with this on a computer like what is this? Um So I think there is that kind of idea that you know what we're doing is kind of a forward uh part of health care like we are in the digital age um And maybe not so much for the patients but maybe more for providers is that you know if you have that and Ron pedigree right? You have to send that to get it scanned into your thr and so then the patient updates you and how do you go about updating that pedigree?

Are you redrawing it? Do you send the notes? Do you have multiple copies of pedigrees in your hr because good luck getting something out of the dhr once it's in it. So the idea that you know you don't have something digitally that you can kind of easily update and then again kind of have that most updated version constantly available is just it kind of goes against a lot of the stuff that we do as providers. Yeah that's a really good point of just being able to update it and yeah you really can't get rid of something once it's in that EMR um and so kind of another aspect of this that I think Andrew may have touched on at one point um is the diagnostic process. So we've been talking a lot about pedigree builders but digital tools can also be useful in that diagnostic journey. So how do we see that they are useful? How are they being used during this diagnostic process? And we can start with you amy well I'm not sure I'm the best person to answer this one because I'm not I had to think about this question and I I'm not sure.

So I I for instance I don't use the finish it has a lot more functionality than I personally use particularly for diagnostic coding of uh just morphology cases. For instance you can put in a lot of things um diagnostic codes and it will suggest diagnoses but they're not the kinds of cases that I tend to see. So I don't tend to use that. The thing I was thinking there was about diagnostic coding and how helpful that can be. So if you if we code well in our in our electronic and digital tools whether that's infinitives where you can add a gene. Um So if you if you add a gene you can add a variant as well and then let's say you get a you this happens all the time, you get an update. Well now these people need to have this screening and then you can just search your entire database and find all the people where you've recorded that they have a pathogenic variant in that gene tim miller lee within our electronic medical records we can do that although um it's pretty unwieldy and quite difficult to write.

And also fundamentally relies on people coding it well in the first place which tends to be where these things fall down. Yeah. So being able to actually find and just search for you're saying like a certain gene or maybe even a certain variant and then having those patients pop up. Yeah. But actually in a simpler way as well, searchable medical records are such a boon if you've got a question about a patient, the record can be so busy. It can be so many lots of people have written things in it. You can search it if you've got a question, has this person had this? And that's that's part of your your diagnostic process. You can just search their entire chart for it and it will search through everybody's notes, everybody's letters. So it it does. It's definitely got more capability than for instance getting previously. You'd get a big pile of hospital notes and have to work through them. Right. So good luck. That's gonna be your whole afternoon there. Yeah, at least definitely. Um Andrew you've had more experience with pediatrics and having this be more of the process.

What has been your experience using this for in the diagnostic process. So I think I think it comes down to you know, again having having those pedigrees in front of you and an easy to access manner cascade testing is one thing that comes to mind, you know, you diagnose something in one individuals and you have to test the parents, other relatives. So that can that can be a value. I think another thing I believe it's still sort of in development but tools such as facial recognition um that are being integrated into exam analysis. I don't know if that's happening with pedigrees yet but I certainly see the possibility of doing that and so it may just add to the ability to throw bioinformatics pipeline um for analysis for different findings. Um Yeah I'm trying to think of anything else but that's that's what I have for now and something certainly that we're looking at as more additions are made to these tools. So that's almost something more I suppose as a preview and something that's more up and coming um scott anything to add on to the diagnostic process.

Yeah, I would just really kind of echo what amy said. I don't use it in that way but one of the reasons that we actually um started using peanut tips and wanted peanut tips to be our main tool is this idea that they're really kind of built for exams and genomes in the sense that you can add in features related to HBO ontology for your patients. And then it will pull up a differential diagnosis of possible conditions to be thinking about um and you can actually upload believe VCF files into the into the system as well and store them there. So if we get to that point where really everybody is having an exam or a genome and we kind of get away from panels, it just seemed like it had a lot of power to be able to store data files uh enough uh gina peanut type information to really make it more of a diagnostic tool to help us in the future. But again we're not there, we're not using it that way yet.

And certainly yes, more as we move away from the panels as you were talking about just going straight for Exxon genome that we're going to have so much more data with that which makes it so much more important to have these systems set up so that there is ways to handle all of this data. Um and one part that you kind of mentioned to was importing and exporting information. Um So what's been your experience with the ability for these digital tools to import and export patient records specifically if you have a new patient intake um and its referral for somebody else. Um the experience of being able to input some of that data into the conversation. I know scott if you want to start out on that conversation. Yes. S the question one more time. So more kind of importing and exporting information in and out of the systems. Yeah. So if you have a new patient coming into the office um and you know to the practice of taking whatever their medical record information is, whatever format you get that in the ability to input that into your system. Gotcha. Yeah. So sorry we're going to have a visitor.

So we we have not really used it in that way at this point in time but usually the records that were getting, we are storing those kind of in the traditional medical records. So we're still in a process where we're really actually kind of taking the information and re in putting it in. I mean I can certainly envision a time that you know like right now if somebody pays me with a check I take a picture with the phone and it scans all the information in. I bet we can get to a point where these tools, if you take a picture of the medical record it will then scan it and input the data. Um So we're not actually abstracting it's versus the system can just do it so not there yet. But I feel like we can probably get to that point with this type of technology that's available. Yeah certainly. And and then on the other side of it with exporting data, if you're sending a patient to somebody else. Has that been a different experience of then being able to take that data and share it with them. If they're in a different system that they're not one of your co workers.

No, it hasn't. Well, so it's still more of a probably are going to get it by paper and they're going to have to bring it and um uh that individual have to scan it. So right now, I'm not aware that any of the digital tools really kind of work like the Epic care everywhere, what you can get the different the different centers agree to it. You can see the different information. I would be great to get to that point because if there is like one or two main products on the market and genetic counselors around the country are all using them. Again, it's a big time saver. Where if you know that family member was seen at Hyo States and you can go and pull that information up. It's going to ultimately save you time with your patient. Something to definitely look forward to. And as you know, we all are deciding which platforms were using. If genetic counselors end up using more of the same or similar platforms and that being uh more of something where you could almost like a google doc of like, oh, share this patient with this person. If they're like within your network or something like that.

Um Anything else to add onto this conversation. Amy I mean we we use epic. So we do have some access to hospital records via care, care everywhere, anywhere. Care everywhere. But it's only quite limited because there aren't that many other hospitals in the UK currently who are whose systems are compatible with ours and that is that is gradually growing. Um The thing that I was thinking about in terms of import an expert report is infinitives. You can you can export a pedophile which you can, which can then be transferred to you. I think pretty much it's a fairly universal um, uh, file format. So you can then send that to anyone who uses another pedigree drawing tool. What we mostly use that for is exporting pedigree data into cancer risk assessment program. Can risk. I think it is built into a newer version of fingertips that we don't have yet. So there is going to be even simpler than it is now. But actually it's pretty simple already.

You just export the export the file, import it into can risk. And then it's done. The alternative is what were previously doing was almost redrawing the pedigree within the risk assessment tool, which pretty tiresome. So that's that's that's a nice a nice quick and easy waited to add to what we're doing for our patients. Yeah, certainly and anything else. Andrew to add on to this part. Um Just quickly. One other thing we use is again with some of the intake and pre screen. We do that in a digital format that we can then export to discrete values like excel. So we can have a date of birth usually surged and things of that nature. So um that's that's helpful in our our end but nothing too much more advanced than that. Yeah, certainly. I think something to really keep our eye on for how tools are developing. I think especially with the pandemic of these tools being more important than ever that we're gonna be seeing things that you know, a month from now, maybe some of this conversation will even be outdated with how quickly things are moving. Um So kind of going back to just genetic counseling in the different areas that you all work in when thinking about digital tools.

There's obviously are three main areas of genetic counseling of pediatric prenatal and cancer, but you know, that's kind of also becoming outdated that there are so many areas of genetic counseling that's becoming much more frequent in our field. Um What top areas of genetic counseling do you see digital tools, having the largest impact of seeing how we're using digital tools and either really improving efficiency patient experience that diagnostic process of of having that really large impact of looking at that sub field and amy we can start with you to hear your thoughts. Um so I think we're perhaps a little bit behind from where scott was. We're still aiming and hoping to get to the point where patients fill in their family history for digitally, that's going to be such a big step forward for us in terms of time saving, we really shouldn't be entering stuff from paper onto onto an electronic system. It should just be going in automatically. We're fairly far down the line with that we know it's possible. It's just a case of mostly getting our hospital it on side so that I think it's gonna be such a big time saving and as we're saying, it just frees you up to actually use your genetic counseling skills rather than to be doing data input.

And I wonder as well if if digital tools can help with um some of the some of the um educational and sort of visual aid aspects of working with patients and as as genetics is becoming more complex and um some of the concepts that we need to convey can be quite difficult. Um I think sort of user friendly tools that display somebody's result in a way that helps you to interpret and make it meaningful than for them I think could potentially be a good area to develop. Yes, certainly. And scott do you have an area to focus on? Yeah, I mean we we worked with fema tips to develop beta test some of the risk model. So uh peanut chips added the gale model as well as uh Ibis into their system. So just having those two where you have the family history already drawn off you, if you, you know the person as a child pulls in a lot of that information, you still need to input a few things that just aren't fields for typically when you're joining the family history, but with a click of a button, you have to risk models already basically run.

Um, and they're currently in the process of validating the print model for for lynch syndrome. Uh, so for us, it Probably took out about 15 minutes of post session work for running has got every single breast unaffected woman that comes in for a breast cancer risk assessment we run the models on. And so if you kind of add that 15 minutes up, of course, you know, thousands of patients. It's a lot of time saved. So, um, for what I do, uh, this is a digital tool that really has made a big difference. Yeah, certainly of not just re entering the same data over and over in different places of like, you know, and less likely to that making a mistake of missing a number or something along those lines that you're able to say, okay, here's where the data is, this is the information. We're getting out of it all in that one place. Uh, Andrew anything else to add onto this part. And I think scott and Amy had hit all the big parts there. So nothing, nothing ground breaking down there. Do you like science themed apparel?

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N. A. Today for 500 bonus points. See the show notes for terms and conditions and that link understanding how our DNA contributes to disease risk is no longer science fiction. Apologetic risk scores add up the effects of thousands or even millions of genetic variants spread across the genome. We can use apologetic risk scores to assess how a person's DNA influences their risk of common diseases. A la liga has created a secure entrusted platform for apologetic risk or analysis and reporting health systems. Clinical laboratories and research institutions can be equipped with the Lillikas cutting edge tools to deploy apologetic risk scores to identify more people at high risk to reduce the impact of common diseases interested in learning more visit Aleka dot com politica empowering the next generation of clinical genomics. We can kind of talk about then of what genetic counselors should look at in terms of when they're choosing digital tools, there's a couple on the market to look at um what are aspects that are on your list that you suggest genetic counselors looking into when you know as a kind of shop around um for these in terms of obviously being hipaa compliant would be one of them.

But what other aspects that go into that Andrew did you want to start us off? Sure, sure. So I think you know obviously making sure that there's integration possible or you know that the group at the hospital clinic or otherwise uh allows you know that type of integration. So having integration can really streamline things. So that's that's one thing of course um and then also it's ideal if there's ability to integrate risk models and things of that nature. So I think that that will certainly be as more risk models are developed, having that beyond that, just making sure it's intuitive to be able to do with with the workflow that you have if you obtain family history ahead of time um that that works in that model or if you more so prefer or the clinic model looks at uh has family history being obtained during an appointment to make sure however that information is input that again it works for best how the GCS there operate. Um So I think those are a couple of big pieces um and really just to make sure that there is support available from from whatever the company who is building this um there there there and you know that that's going to be long term, there's certainly some some different models or programs have shut down over time so that that creates another challenge.

So just making sure that someone or a group is reliable I think is also ideal there. Yes, I feel like we should like take that snapshot of all those things to make a list out of it because I think that's so many important factors to be taken into account when thinking about which tools of trying out and possibly adopting um amy do you have any others to add onto this list. I think that was most of them. I can't think of anything and you're like covered everything right there. That's great. He's got anything else for that. Yeah, I think I would just echo the support. I think one of the things that again, which fanatics specifically is when we first started beta testing it, we ran into some issues and we gave the feedback and they were extremely open to making those changes so that it works better. I've worked with other tools where it's like this is our product and it's like moving mountains for them to make any changes to make it user more user friendly for not only the clinician, but also the patients.

Uh so I really just wanted to echo with that support piece in terms of the digital tools, especially if they're able to say, oh this is an aspect that isn't working for you, how could it be better and kind of being partners in that so that you don't feel like, oh it just is what it is. I don't like this. I don't know how to change it so that it really is dynamic. Um so now that we may have sold some genetic counselors that digital tools is the way to go. Um the other really half of the conversation I would say is talking about the barriers of actually adopting these, we've talked about how many just benefits can come out of these digital tools and at the time patient care and everything that goes along with that. Um but it can be tough. I mean you were saying at the beginning that it was tough to actually implement this and switch over from paper to digital tools. Um What advice do you all have about approaching either department heads or whoever is making that call um of switching over to digital tools and you know, how genetic counselors can frame this conversation so that they can really take what they've learned here today and approach, you know, their supervisors with this information.

Amy did you want to start us off? Yeah, I mean I think see it as a business case and and sell the advantages and the advantage mostly in time saving um in time saving either trying to find the pedigree, the notes, whatever, which might may may not be where they're supposed to be um time saving in. Um If you can and I would definitely advise if you taste setting this up now to look for something where patients can enter their own information clinic, that's a huge time saving gains to be found there. Um So sort of approach it as a business case, sell the benefits of it. Um The other thing of course is that a lot of people are afraid of change. Um and that that wasn't it was part of why would the transition was so difficult, but it wasn't it wasn't the only reason and I think um that that fear of change does have to be overcome and I think sometimes it's a case of introducing ideas quite slowly so introducing introducing the concept but then sort of gradually coming back to it because people sometimes need and need time to adapt to a big shift like that and we'll need to kind of filter through their questions.

Well how is that going to work and how is that going to work when they when they when they know the sort of ecosystem that they live in and work in and that's comfortable um they they need time to figure out how how a new version of that would work. So I think I suppose the messages just don't be disheartened if you initially get a but but this but that response that somebody thinking through it, give them time to do it and just keep gently gently coming back to it. Yeah and anticipate what those questions are going to be. So you can kind of think out and map okay this is where we can go from there if they bring up this question and kind of do your homework before approaching them. I think that's really good advice um scott anything to add about advice of approaching department heads about adding these digital tools and potential barriers that can happen at the beginning. Yeah I mean I think Amy really kind of hit on a really the key ones. I think the two other ones that I would maybe add to that is one. I think you can make an argument like how much is the hospital already spent on their E. HR. And to have you know they make adoptions to all different types of departments.

Well this is a department specific tool that's needed and for us to get off of paper and be completely digital we need this type of tool. And I think the second argument that you could potentially make as a genetic counselor if you really are still doing pen to paper is just for HipAA compliant. Like if you are seeing your patients and then you're going home and doing some starting in the evening you're then taking paper out of the hospital with you home to then write your note so that you have all the information in front of you. And so to be able to not have to take paper home just log in and have access to everything. It just is kind of just more HIPaa compliant. Just just safer in that regard. Yeah certainly. I think HipAA compliant just being really a big factor in all of that and thinking ways that you can reduce your risk of of coming up with any issues with that. Um Andrew anything else to add on to this part. Um So really you know just any time you're trying to affect large change at an institution. Just making sure you have someone decision maker who's, you know, a champion that believes in what the change you want to affect.

Um, and really just making sure that all of the folks who this would impact our, our on board, you know, and getting getting representatives from each to make a reasoned argument. Again, looking at the value that this can add. Um, and just making a business proposal essentially I think is, you know, a good way to go about it. Yes, definitely. Well said, I think before we move on to the listener questions here, I had one more question myself that I wanted to get your take on is just where we see digital tools going in the next 5 to 10 years. But I almost want to switch that and say like 1 to 5 years because I feel like 10 years, that's that's too hard to tell. Um, so for the next few years, what do you see changing and being the biggest impact of digital tools like specifically for us as genetic counselors? Uh, scott. Did you have something in mind for this? Yeah, I mean, you know, I think we are going to get to a point where most of the process probably is going to be digital. Something that I described earlier where patients really engaging with some sort of digital tool, whether it's videos, whether it's a chat bot, whether it's something that's really allowing the patient has got a lot of that pre education so that when they get to the healthcare provider, again, it's really more of a targeted session or I do think it's possible that with some of these tools, if we're able to integrate potentially some psycho social tools, so maybe the cancer setting, like looking at cancer, anxiety, cancer, depression, cancer worry, and maybe to allow us to see more patients and work at our top of scope.

Maybe there are some patients that can go through an entire digital process and not talk to a genetic counselor on the front end, the test gets ordered and then were available on the back end to answer questions about the test results, but for patients are going through this process and they kind of flag that there's anxiety or worry or concern, then they get kind of off ramp from the fully digital process to the genetic counselor um for that more, one on one meeting, you know, there there's a lot of people that are ordering their own genetic testing at different companies, so there are some people that may not need us up front that really can work with on the back end and I think the digital tools are really going to allow for that process to work. Yeah, that's an interesting concept to think about of, you know, we sometimes get focused so much on the genetic information and the decision making part, but also knowing that with so much of this, there is that psycho social component that sometimes is one that we talk about with these digital tools because, you know, as a counselor is a lot of our training is focused on that psycho social component and computers don't have as much training on that. So certainly it's something that we can focus on it and see how that is changing in the future and being able to funnel patients more efficiently.

Uh Amy do you have anything that comes to mind of looking at the future of digital tools? I've got kind of two things which which are sort of either ends and a bit of a sort of democratization of genetic information. So one being tools that help non genetics providers. So like like the risk assessment tools which will basically tell them either this patient needs the screening or you should refer this patient to a genetic counselor. So sort of empower them a bit to be making some of those decisions. I think some of those do already exist. Um and the other one is that the patient ends of the spectrum. And I've seen quite a few studies where um people have tried and I don't think I'm not sure there's any actually out there and active and live in public at the moment. But apps and websites that patients can use to share genetic information with their families, you know, at the point where we where we find a pathogenic variants in a patient and it's sort of then there then charged with informing their relatives about it. It's a digital way of doing that. Because of course, you know as scott was saying everything's digital, I don't expect it to be digital. They don't expect like they don't like when you get a paper and pencil out to do a pedigree, they get a letter to give to their family who they probably only communicate with on what's happened.

Facebook messenger is like, what am I gonna do with a letter? Take a picture of the letter and then send it right. It mostly do that. Right. Right. But but an app could be, you know, because it could be they could then it could then contain some information about it. They can click through, it could tell them that they could put in their postal code and it would tell them where they need to get referred to. It could be much more interactive. So I think I think that's a sort of a future future area. Yeah. And definitely areas where it could be more anonymous too of being able to have, oh this is your family members information that we can share and not say that this is coming from you. And that's going to be much easier digital tools as opposed to sending some kind of something in the mail and they're like, well where is this coming from? And um you know less easier to track and talk to the genetic counselor is coming from. Uh certainly an area to be looking at and yeah, as you said, people are not expecting when you hand them a piece of paper there, like what am I supposed to do with this? This is not going in my computer. Uh Andrew anything that comes to mind when thinking about the future. Yeah, yeah, so scott and Amy both hit on wonderful points that I very much agree with.

I think that one other thing I would want to point out and I sort of talked about this a little bit is a lot of these digital tools do produced data in different ways that hasn't been completely integrated into bioinformatics pipelines for exam genome other other methodologies that are coming down the pipeline. So having this information be integrated into that process I think is really going to give us just another piece to the puzzle to help further um diagnosed folks and as apologetic risk scores get get better and improve. Um I I think we're going to see a lot of benefit from including these the data from these digital tools as far as diagnosis and just giving, providing information to families um and patients to make decisions off. Yes, certainly well said all around. Um we do have some viewer listener questions here that we can get to. And so the first question is does he know tips support complex pedigrees for example with multiple partners in consequence city.

Um I can answer that really quick that yes the answer is yes. Multiple partners in their con Sanguinetti is a box. You can check off. Um so I think we can kind of check that one off the list that we've answered that. So the answer is yes, consequences better than actually. So you can just mark a single relationship is concerned witness. But you can also drag so you can get the partner node from a person on your pedigree and drag it to somebody else to attach them. So you can see you can make a contact Guinness relationship by literally joining two people who are on your pedigree. Yeah, I didn't know that. I'll have to see that. I saw the box for it that I've used neat. Yeah. Yeah. So actually, I mean those are those are things that as scott was saying they they print, it's been brilliant, men responsive at changing things. And that's one thing that they that they improved was that was how it handles con Sanguinetti's? Yeah, it does. It does. It does it really well. Yeah, certainly. And so our next question is, is there a software that has finally typing applications and facilitate genetic evaluations? Like a dis morphology software does fino tips have something like this.

I don't know if anyone can speak to this question, I can't speak specific to fingertips but I do know there is software out there. Um I don't know if I can name the software but if you look it up, there is software out there that will take basically um uh data points from your whole face. Um and I believe they're working on other other metrics as well to then suggest potential diagnosis off of that. Obviously it's just one piece of the puzzle, but it's uh there's a lot of good software out there that can um and that also can integrate into analysis for for certain labs are using that type of information as well. So hopefully that helps. Yes, certainly anything else to add amy scott. And I think if you really enter into phoenix tips, the very specific this more this morphological, that's the right term feature in multiple of those features. It will do uh some like some differential diagnosis and then I also think that it will may be speaking out of turn here.

But I think it also if you put that information in and have a vcF file, I think there's some connection between that too. Um So it has that functionality. I just again not doing a lot of pediatrics. I don't really use it at this point. Yeah. And it does phoenix tips can do deep genotyping based on text recognition there. Um And I believe our next webinar is going to be focusing on this a bit of a teaser there. If you have patients with Prader Willi syndrome, please let them know about a new clinical study looking for participants across the United States. This study will be evaluating the safety and impact of an investigational medication. The study will focus on excessive daytime sleepiness, cognition and behavioral function, and people with Prader Willi syndrome. The study participation is four months long and consists of five visits. If you're patient at your visits, you will participate in sleep tests and have general check ins on how you're feeling. There are 13 trial sites in the United States with travel reimbursements for families. You can also learn more about other clinical studies for genetic disorders through no rare dot com.

There are studies for sickle cell achondroplasia, cystic fibrosis and more. Again, that's no rare dot com. Stay tuned for a full episode about Prader Willi syndrome, including this study on november 19th or for yourself, a patient or loved one of the study by visiting the links in the show notes, which is also available at DNA podcast dot com for centuries, humanity has imagined a magical fountain that could unlock eternal youth. New scientific advances suggest this might actually be a reality in the not too distant future. Journalist keith McArthur explores the mysteries of aging and unlocking the fountain from cbc podcasts, real meat dreamers, skeptics and cutting edge scientists, including those who believe that the first person who will live to 150 years old, has already been born keith McArthur hosted unlocking Grayson's brain, which I recommended last year and now you can tune into his brand new podcast, I've already binged all the episodes released so far. So catch up with me by listening to unlocking the fountain everywhere you get your podcast. Our next question is what is the process of drawing a detailed pedigree on an online medium while speaking to the patient?

Doesn't it get difficult to keep track on the conversation and simultaneously draw the pedigree? So we talked about this a little bit earlier in the webinar but any additional thoughts there on just that experience, especially if it's a more detailed pedigree and it's not necessarily writing alive and well and most people I think it's practice just like anything right? Yeah so I know that I know because I have colleagues who are newer to using it. You don't feel so comfortable but I find it I don't feel a barrier in my brain between what I'm doing on fingertips and the conversation I'm having with the patient and I think that's just that's just familiarity with it. Um I mean you can do it, there was some tricks which helps like using the tab key to move between the boxes rather than using we're going back to your mouse all the time using definitely use the number keypad for dates of birth rather than rather than scrolling for things and for ages it make that makes it so much quicker but I don't I mean I think if you're doing a reading telephone conversation is quite easy because you just have to you and you need the pedigree in front of you.

The video consultations, it does help to have two screens always, or split your screen so that you can help you so you can see your patient and also work on the pedigree at the same time. Um But I think if if you if the thought of that, don't you think it's just because you've not not try doing it and I think one when you, when you start doing it, you feel comfortable with it and confident, I don't find it a problem at all. Yeah, definitely started, you have something to add on to that as well. It's just surprisingly easy. I think once this is what you do it, it's not that different. And you mentioned it earlier, it's a way to engage with your patients or if you are sharing a video appointment and you share your screen, they can see what you're building at the same time. And often they'll kind of comment like, oh, this is pretty cool and you know, what does this symbol meaning? So it does allow for more engagement with the patients versus again, you're kind of writing with your head down, looking up, it's really just facing you at that point in time. Yeah, I think that's a good point in that um with this, it's like okay if you're drawing the lines on the box or the circle that is probably going to take more time compared to just clicking one button of like adding a brother adding a sister.

Um So I think yeah once you get through a couple pedigrees you're like wow why have I been doing drawing for years and you're anything else to add on to that one? Just to say you know every time you're trying something new it's okay to check in with the patients. Say you know uh say I just learning this new software obviously you know I've been doing genetic counseling for X. Amount of years so it doesn't take away from your you know what is the word I'm looking for, You know what you're doing. So you know addressing that you know this is a new software it might take a few seconds I think is totally fine. And I did that when I started because I take a little while to figure things out and no one ever balked balked at that at all. So I think that's fine as well. Yeah and even just taking some time it's like take your favorite book series or something and just play around with it of adding and see how quickly you can do it of knowing that information and just playing around with it. Um You know in the vast amount of downtime we all have. Um So another question we have is does the pedigree system at fino tips is inclusive to L. G. B. T.

Q. Of the queer community so that this was a change that we requested as well because in an early version of fingertips it wouldn't let you have by default. If you set up a partnership one would be male and one would be female. So that is no longer the case. The partnership partnership female. Both male can be both female. Um There's a diamond symbol is for is for which which you can use either if you don't know agenda or somebody is non binary. What we don't currently have and um I'm not sure that there are agreed symbols at the moment. I know that one of our trainee genetic counselors is doing a masters project on this at the moment. But so symbols for trans men and trans women. I'm not sure that there are agreed symbols for them at the moment. So I think it's you know I'm sure that if when agreed when and if there are agreed symbols, I'm sure feeling it would be happy to incorporate them. But that is something. So at the moment you just have to put put one gender and then and then put in your comments in your notes if somebody is trans and to follow up on that if someone is using an egg or sperm donor, is that also easy to add in?

Or is it more making a note on the pedigree. I think it's making a note on the pedigree. I don't think that you can, you can definitely put an adopted status, but I don't think there's a gammy donor option. I could be wrong. I haven't looked for it specifically. People on the call yours. Yes. Um, and another question we have before we wrap up is can you talk more about the educational tools for patients that are being developed? What is the format are these resources interactive? So I don't know if anyone can speak to the educational tools for myself. I've kind of developed them on my own and that's what I use. Um, I don't know about any of you guys. I mean, you know, gino medical, we basically we took the genetic counselors and we wrote scripts for the content that we would want in our videos. And then uh, we hired an animation company that then took the scripts, animated them and then obviously we get to review them, see what the images look like, what the animation looks like. Um, and again kind of built it on our own. I think a lot of centers that have done this and some of it you can see some of the videos on Youtube a lot of times, maybe put them out there for their patients to look at ahead of time.

So there's a lot of different templates out there for those type of educational tools. Yes, definitely. And so I think that about wraps it up for this webinar definitely stay tuned for our next webinar on december 9th. So this is going to be as I teased earlier, fino tipping in the area era of genome medicine and this is going to be featuring dr Olaf open um er and he is the Associate Chief of genetics and genomics at boston Children's Hospital. You will see a feedback link emailed to you. Please take out a minute to offer your feedback about today's webinar and pick topics you would like to see us cover in the upcoming series. The email is also going to include a link to fino tip speaker series page where you can sign up to receive alerts on upcoming sessions so that you don't miss any of them. But also all the recordings of our previous sessions are on there as well. So you can watch them on demand if you watched it before, Maybe you need to watch back to catch something that we said. And you know, tips is also going to be at NSG C, which is virtual this year. So you can stop by their booth for a free student account.

They're also gonna be showcasing their new cancer risk assessment tool and a new tool that auto draws pedigrees using patient entered data which is what we've talked about today. So if you'd like to follow us on social media, you can search DNA today on social media and podcast players from myself along with D N A podcast dot com and I don't know if you guys want to share your social media as well. Andrew, I think you had a couple that you wanted to share. Their. Sure. So yeah, we're on twitter at clover genetics and clover underscore genetics. Um and then we put out a blog post about once a month on different topics related to genetics on on our website clover genetics dot com. Um So certainly check this out there And Amy or scott, Do you have any social media to plug mine is on the screen. It's at Chicago genetics is the private practice Gino medicals at genome ed. Um So yeah. All right. And Amy Years is also on the screen it looks like, well that's just the hospital to be honest. I avoid using social media professionally. I'm low profile.

So yeah, that's that's just the hospital I worked for. So they have to catch you in webinars then they have to look out for when you're speaking. So, um so yeah, definitely check out fingertips dot com for all information if we didn't get to your question today. Um you can certainly chat us right now and we'll be sure to email you back on one of our lovely panelists can answer your questions. So I know we had a lot today so we got to as many as we could in the hour. So thank you again for everybody. That's tuned in and thank you so much. Andrew scott and Amy for joining us today and sharing your expertise. I think it was just so helpful to hear how you're using the digital tools, how genetic counselors can adopt them and you know, really why should they adopt them? So I think we dived into so many topics today. So I really appreciate you taking the time to educate our audience today. So thank you. Thank you. Thank you. All right. We'll see you all next time, december 9th. Mark your calendars so that you can tune into fino typing in the area of genome medicine. So thank you for tuning in everybody. It's been lovely to chata throughout the world here.

So hope you all have a really great week D. N. A. We're all made of the same category DNA.

#161 Phenotips: Digital Tools in Genetic Counseling
#161 Phenotips: Digital Tools in Genetic Counseling
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