#259 NSGC 2023 Recap and Reflections

How is it that we find ourselves surrounded by such complexity, such eloquence, the Genes of view? Hi. You're listening to DNA Today, a multi award winning podcast and radio show where we discover new advances in the world of genetics, from genetic technology, like CRISPR to rare diseases to new research. For over a decade. DNA Day has brought you the voices of leaders in genetics in over 200 episodes. For the past three years.

DNA Day has won the People's Choice Best Science and Medicine Podcast Award. I'm Kierra Janine. I'm a certified genetic counselor and your host. You might be wondering why this episode was not released Friday morning. Like all of our episodes for, I don't know, three years in a row. Well, I was busy at the NSGC conference. So that stands for the National Society of Genetic Counselors Conference and it was in Chicago and it just wrapped.

So in order to be able to fully reflect on the conference, I wanted to hold off on this recording until the end. And that's also why my voice is so strange because I was enjoying talking to so many of you. My heart is so full NSGC was really fun this year, very packed and very tired, but just coming off of it, feeling much more inspired um for so many more episode topics, it was amazing to meet so many of you podcasting can feel very one way compared to other forms of digital media.

So such a treat every year to be able to meet people in person, including many listeners who are either genetic counselors or genetic counseling students. So to kind of reflect on the conference. So joining me is one of my very good friends, Catherine Mayo who is a genomic science liaison at Ambry Genetics. So thank you so much, Catherine for sitting on the side of the conference. Hopefully it will be quiet enough for us. Thank you for having me.

It was a really good conference, so I'm excited to talk about it. Yeah, definitely your voice may be familiar to some people. Um Catherine was on, oh man, what year was that? 2019? Um We talked about the film Gattaca and we had a really fun time just like I think it was after finals or something. Our first year had just wrapped. So we were full of lots of knowledge and uh just wrapping up finals. So it's amazing. We were well spoken enough after finals.

But for those that don't know, the film Gattica is like a cult classic in Genetics. Movie was released in 1997. So this month is actually 26 years since the film was released. Um We kind of talked about how a lot of what was fiction in the film is now real life or real technology. Um Some of it is not, but as every year goes, I feel like it becomes more realistic, which is really crazy, but you guys should check that out.

That was episode 1 10, I think it's one of our most popular episodes that people find through Google searching um specifically. So yeah, you've been heard a lot. Um But anyway, so I kind of referenced it, but we were in the same class at Sarah Lawrence class of 2020 for people that want to talk about Gattica with us. We're actually going to be doing a Zoom where we can all hang out and you just have to join our Patreon to be able to do that.

One of the lectures I look forward to every year is the Janice lecture. It's usually very interesting and this year we got to hear from Robin Bennett who is such an og in the field, like it was really cool to be able to see her present. I don't know if I've seen her present before. So she is the uh I should have looked this up, but she's either the lead author or one of the co authors or the sole author of the Practical Guide to the genetic family history.

I think some things that I pulled out of it that we've talked about on different episodes of DNA today, one specifically episode 1 89 with um representatives from pheno tips where we talked about just inclusive pedigrees and just kind of what's changed over the decades. And it was cool to hear her perspective on just like the historical context and how at the beginning, we did not have like a standardized template for pedigrees on it. Were you um surprised by that?

Because I kind of figured like as genetic counseling started, like in that first year, we would have had it. But that didn't seem to be the case, right? Going back to Robin Bennett, I, her name is so familiar and it's because she is on, you know, most of the guidelines around pedigrees that I'm familiar with. So I knew there was some change over time.

One of my favorite things about this lecture was, yeah, reviewing the history, reviewing how terminology has changed and acknowledging that we, we weren't always doing the best. And so she does at one point, a failure bow which I thought was really, that was great. I love that. She literally stepped away from the podium and like bowed and I was like, yes, we need to do more of that. Yes. She says she teaches her students that which I thought was great. And so she did acknowledge several times.

She did a couple of failure bows saying that, you know, the way that we had did this in the past wasn't necessarily the best, didn't have voices from the community that we're trying to represent in these pedigrees and kind of showing how that evolved. So that was cool. Yeah, that was very cool. A surprising number of years were like there was no updates to nomenclature for pedigrees. So I was surprised by that.

Um, we'll include more stuff in the show notes for people that want to look more into that. And we've done multiple episodes, someone that Robin Bennett was mentioning is Janine Austin and they are also such a rock star in the field. And Janine was on an episode that I'll link to in the show notes talking about how some of these guidelines have developed and changed.

Kind of in the last I would say two years, there was a big paper uh maybe a year and a half ago about this and some of which I think for people that haven't listened to those episodes are not aware of some of these changes. I found two things that were really surprising. So one was that, you know, we're very used to circles and squares, right? Like that is like our bread and butter, like others like triangles and for like terminations and miscarriages.

So that's, you know, kind of more in my realm working in prenatal. But now that we've also introduced using a diamond for someone that identifies as non binary and writing under that diamond, what sex they were assigned at birth. Kind of giving the example of someone identifies as non binary and they were assigned female at birth. You would write a FA B for assigned female at birth or a ma B for assigned male at birth heard in the field.

But I think now it is in officially the nomenclature and there was a lot of back and forth on like how we decide these symbols. The other thing that I found that I learned at the moment was we learned in school, at least for us, class of 2020. And everybody before us that the male partner goes on the left side and the females on the right side. And I always felt a little weird about that. Like I get, you want to have some things that are like kind of standardized and easier to read.

But at the same time, I was like, why does the mail always go first? I remember you saying that in school? And it's really, yeah, you brought it up in school when we were students and it's something that has always stuck with me. But I, you know, did what I thought I was supposed to do for standardization reasons. And so it was a surprise to me too during the lecture here in 2023 in Chicago when I learned that, that was no longer the case. So, yeah, I was also surprised.

Thanks Robin and everybody else on that, on that big paper, I think there was four people on that paper. And I think the last thing to reflect on for this Janice lecture by Robin Bennett is that we need to just consider labels. And when we don't truly know something about a patient, simply ask, I think, assuming, you know, we all know that phrase that I won't say but that it's so much better to just ask someone. So I thought it was, it was really cool.

I always look forward to the Janice lecture. So people that are going to NSCC next year, definitely look at whatever that topic will be, right? It was a great learning experience for I think everyone in the room, the presentation right after the Jan S lecture was a panel presentation about professional issues. And the title of it, I think is important to mention that it was how to widen the frame and bring intersectionality to your genetic counseling practice.

And I have to say, I think this was one of my favorite panel talks that I attended with the diversity of the panel speakers. And honestly, how well spoken everybody was like specifically Daphne Jefferson, who was the first person and I don't think she was a genetic counselor.

She came from a different background and it was cool that she shared Kimberly Crenshaw's story and how the concept of intersectionality of, I guess for me as an example, I identify as female and I'm also in the queer community. So I guess for me if I'm getting this right, you're nodding that that would be kind of where I have intersectionality. And it was cool that people on the stage kind of shared like what their intersectionality was as part of their talk.

But it really comes back to this person, Kimberly Crenshaw and, and how she really brought about this case saying that she wasn't put up for a promotion because of her intersectionality of being black and being a woman. And people basically said, oh, but black people are being promoted and women are being promoted. And she's like, yeah, but when you take those two aspects of someone, then this community is not being promoted. So it didn't have to do necessarily with internet counseling.

But that's where the concept comes from. And I think it was really cool just understanding the impact of systematic oppression biases and stereotypes and how micros are very cumulative and, and the health disparities that come from that because learning this, it was very much focused on how we can apply this to our genetic counseling practice and patients in particular. And the person that I saw speak last year that had an awesome panel that I think we talked about on the show.

I don't remember if it's Andrea or Andrea. She was just so good. And I think one thing that I, you know, I really resonated with me was when we ask patients questions and sessions for those that are patient facing roles that were all of our questions are being asked with a purpose to help the patient and, and be better with patient care.

And it's not coming from a point of curiosity builds on what I think we learned in our training program about I I think a lot of genetic counselors talk about implicit biases. So those biases that we carry around whether we are aware of them or not because of our background, because of for example, labels that we carry. The one you just mentioned a couple such as your race, your, you know what your orientation.

One of the things that I loved about, this was the way that they made it more tangible, including Andrea. She herself is a genetic counselor with achondroplasia. Thank you. I didn't mention that. So like you're talking about this person, we have no contact. Thank you. You're welcome. So she has achondroplasia and that was part of her discussion was explaining to the room how that affects her in her personal life and also her professional life.

And I I loved that message of ask questions with purpose and not just for curiosity because as she put it, people with disabilities can tell the difference. A lot of the time when you are asking just to satisfy your own curiosity, you clearly just want to know more about this person and not necessarily because it's helping you build rapport or understand how they get about in the world or see themselves or how this might impact their decision making with testing.

Um So that was a really good tangible piece of advice that I appreciated. A lot of these speakers started by sharing about themselves and that was very relevant to the talk. Andrea kind of shared that she has a multi ability family and I love that phrase. I don't know if I've heard that before. So that was really cool that she was talking about that they have a couple of Children and at least one of them is average stature.

The other two, I don't know if she has three Children, but two of them have achondroplasia and I believe her partner also has achondroplasia. So I think just interesting hearing like her viewpoint and sharing all that. So this was a great one. I hope I don't, I haven't looked at anything that's virtual because we've been so focused on being in person. But um for people that have access to that, definitely recommend going back and watching the ones that we're talking about today. Absolutely.

It was great. One of the most well attended sessions that I went to I think was the, say my name, say my name, it's hard not to sing that as I say it. And they played the song. Yeah, they played the song as it started but say my name, say my name. It's time to discuss the problem with the name, quote genetic counselor. This one really got people riled up cool that it was the last session on Friday.

The fact that it was that timing and so many people went, people were very interested with this conversation and I think there was two main topics within this brought up of like, first, should we change our name? Second, if we are, what are we changing it to? There was what is that called? A word cloud that they had up on the board as if we're in class on the screen. It was interesting just to see how many names are on. There were any standing out to you?

Yeah, I think they mentioned it was kind of a preliminary survey when they asked G CS currently in the field about this and some of the ones that I saw up there were genetics, associate, genetics assistant, genetic specialist. There was even conversation around the genetic part which we can get into. But those are some of the uh alternatives that I heard. Yeah, that's a good list. I think the only other thing that I was thinking of was genetic advisor.

So a lot of words that start with a consultant, consultant advisor. Yeah, so a lot of things that kind of pull from other areas of health care. One thing that you were reminding me of is that the term physician assistant, they're in the process of changing their name. To, what did you say, physician associate? Yeah. So I felt like it was a really, first of all, it was a debate format. So they had both sides presenting points that were very well balanced.

I actually came out of it, kind of seeing both sides. So they brought up the example of physician assistants who ps as we know them have recently made a change to physician associate, which on the con side or on the, let's keep the genetic counselor title side, they brought up the fact that that cost that organization about $22 million million people, million dollars to make that. What seems like a small change. Right.

With that, it's also important to recognize that we're a smaller field than pas, it's apples and oranges theirs. But at the same time, like, all right. Well, if we made a ratio or something, like it's still going to, if we were to do that cost a lot of money and now it doesn't seem like a good time to be changing our name if we are going to because we have legislation we're hoping to pass in order to get licensure in all states.

I think about 33 states right now we have licensure in because the genetic counselors that I talked to that do telehealth. They're like, oh, I'm all states and they keep saying 33. So that's where I'm getting that number from. It would have been ideal to have this conversation before bills are proposed. So it feels like it's a little bit of a delayed conversation.

But one that is interesting to be having and I have to give a shout out to Ed Kloza who came up at the end uh when it was the Q and A part and kind of said, hey, I was here for the original conversations of like, what should our name be? The term genetic counselor was coined by Sheldon Reed in 1947. And before that genetic hygiene or hygienist or something was thrown out there. And it was like, OK, we can't do that because that has a lot of like eugenics ties to it.

But even Ed had said which I'll put a link in the show notes to the episode that Ed was on earlier this year. But he was saying like even then it wasn't like this is a perfect name. I don't think we're ever going to find a perfect name again. That was another kind of part of the argument for those against changing the name is what would we be called? Is there really anything better than genetic counselor? But I, you wanna spend some time because I think we focused on that side.

The other side though I will say in my experience in our community as G CS and in the field, I have heard some who hate the name Genetic Counselor. There was a lot of discussion, especially around the counselor part, um where one person brought up the fact that, you know, when you're having issues in your marriage, you go to a marriage counselor when you're having issues perhaps with your mental health or, or what have your personal life, you go to a grief counselor or another kind of counselor.

Um And so there may be a negative connotation. There was one, these are also often helping careers. We know historically, they're underpaid compared to other careers. So I do want to mention that argument and where a lot of folks in our community are coming from that, maybe genetic counselor doesn't really exemplify our evidence based our scientific background as providers and hard to remember who said what but Carla is so well spoken. Oh, she was so good, almost just like poetic in some way.

I don't know, she just had such a great presenting mode. Carla, you got to come on DNA today. If you get this episode, someone sends it to you. But I think Carla brought up a really good point echoing what you're saying. Catherine of the term genetic counseling doesn't represent our full scope. And I think she also was saying that our profession is mostly female and is one of the reasons because our name is counselor. Like you look at the social work field, predominantly female.

Carla was sharing personal examples of going to a career fair and it says like, you know, genetic counselors or genetic counseling field and looking at people's faces of looking at it and kind of be like e and walking away. And I don't know if she was saying she actually followed some of those people and explained or if she was being hypothetical about what they were thinking about.

A lot of people won't look into it because they're thinking it's really counseling and they're not understanding that people can have roles like you do as a genomic science liaison where you're, I would say not doing a lot of pure counseling, but you're doing a lot of educating. You're doing a lot of keeping up with testing the field to be able to educate health care providers and some other genetic counselors, you're my rep, which is really fun that that happened.

I think the term genetic counselor for someone like you, like, do you think it encompasses? Right? I was just thinking about that and she did, that was one of her points. Exactly. Is this genetic counselor concept when it was formed? We all were in the clinic. There weren't really roles outside of the clinical GC at that time. Whereas now like me, some of us are in industry, some of us work in policy.

Some of us work as, you know, in C suites and as executives and does genetic counselor fit what I do. It's hard to say I still do education and that was a theme as well. I think I can't fully answer that. What it also reminds me of is we all do they kept referring to the elevator pitch that we do? You know, nobody seems to know what we are when we go to a party and we introduce ourselves. Oh, what do you do? I'm a genetic counselor. You see that blank. Look on their face.

We all talked about that elevator pitch that is frankly necessary because of lack of awareness. And so two sides here, one saying, well, it's not really the name. It's simply that people aren't familiar with the profession itself. Like even if we change the name is that gonna change it.

But to be fair also, maybe so maybe if my name wasn't genetic counselor and it was something else, maybe it would be more obvious where I don't have to launch into that elevator pitch of uh genetic counselor is what it sounds like. I know genetics and I know counseling. Yeah. Yeah. I, I can't say that I'm like in interviews and stuff when I'm on other podcasts. Like I say tonight, counselor, like it's, as you kind of said, it's what it sounds like. I feel I'm having an expertise in both areas.

And Carla also said something of oftentimes when we're talking to someone that even sometimes is in health care, they don't know what we do, who we are, how we contribute to the field of health care. And Carla was like, I don't know if I'm gonna get this verbatim because I was trying to write really fast. But Carla said, if everyone has a story like that, it's damn near fact that people don't know what genetic counseling is. That was a great point.

Yeah. And the way she delivered it was very like, you know, everybody starts shooting and hollering and it was, it was really interesting and just that genetic counselors do adapt then on the flip side, right. We keep going back and forth, but we've spent 50 years educating people about what genetic counselors do, how we can help our impact in health care. And if we change our name, are we going to lose that progress?

And I think that's what Ed was saying as someone who has been here since the beginning where there was a possibility we were going to someday be called genetic associates. And ultimately, they landed on genetic counselor. We've been fighting so hard for pay for so many things. Recognition as you mentioned, we have legislature that is current and going through and we're trying to pass these bills. Um Right. Would we, would we lose some of that progress and, and awareness?

Recognition and, and pay? Yeah. And, and with that right now how it is if I'm correct about the 33 states that have licensure, the state I practice in Connecticut is one of them. Each state law individually would have to be changed in order to reflect our title and I, I think that is risky because other people in organizations and I will stay generic here to not be too controversial, are not as supportive of genetic counselors being able to order testing and have that licensure.

So it's risky because other people could step in and be like, oh, we're going to prevent that and states could lose licensure, we could go backwards in that sense. So, I don't know. I think it's interesting, like, I wonder, you know, we're relatively young in our careers. We graduated from Sarah Lawrence three years ago. So I wonder like in our lifetime, will it change?

And people like we're going to like, you know, mess up and say, you know how people say like, you know, they're maiden names or something like, but we called it a genetic counselor and now it's this, you know, crazy genomics. Maybe we'll all be genomic science liaisons, right? I don't know. I like your title. I do. Oh, we didn't even think of that. And that's literally your title, right? A liaison is very much what G CS do. So, yeah, with the title Genetic Counseling. That is our field.

But within that we all have different titles, right? So that's an example of like you are a genetic counselor and that you're part of our field, but that you also have a different job title, right? That there's a time and place for that. And I think that's why it is important like I am a prenatal clinical genetic counselor. We have that and I think that kind of helps because when you say your title, it kind of explains more of what you are. You're a liaison between. That's a great point.

That didn't even come up in the session that just organically, you know, we have exactly the field and the profession is genetic counseling. Our title is genetic counselor. Well, that's what we call that. Once you've done the training program and, and graduated and all of it and you're certified and whatnot. But you're so right.

When we get into our different institutions and organizations, we may have a different title like director of Variant Curation, you know, of marketing that we're not limited in that regard. We still can hold other titles while being counselors. So I guess jury's still out. Yeah, we'll see. We'll, we'll check back over the decades. I would love to hear what everyone thinks about this because again, I've, I this is, there's been chatter in our field around this for a long time.

And so I love to see it get such a big stage and platform at NSGC this year. And I'm really excited to see what comes. Yeah. And I'm realizing, well, including in the show notes, the poll that they shared for those that couldn't attend NSGC, maybe you're listening to this just to see kind of what you missed or, you know, you're also reflecting back in the conference like we are.

Uh but we'll include that in the show notes if you want to check it out and kind of contribute to the information that they're collecting. But yeah, this will be really cool to kind of keep tabs on over the years. Obviously, this can't be a comprehensive recap of NSGC because we would be here for days. But we wanted to mention a couple of their sessions that we attended and just kind of give them a shout out one of them that I went to today.

And the last day um was the most important omics of all economics of health care across private public and not for profit organizations. And this was a lot of business jargon, a lot that I was able to learn and that they defined throughout. I thought it was cool kind of to learn about. There was a really good graphic during one of them and it was in the main ballroom. So I believe it was recorded for those that want to go back.

There was a great graph of like stages of growth of companies and from, you know, start up all the way to actually making a profit to if they end up kind of declining with that profit. And as J A counselors are looking for start up companies to maybe join of the narrative that you want the company to have in terms of like marketing opportunities and the company vision and their mission and all of that. But also on the number side of like, well, how fast is the revenue growing?

Is the company profitable yet? Is it in the direction of getting there? And I think the last thing that I was just like, really interested in, it was just a couple of stats about the US hospital system. Um A lot of NSCC is focused on the US and kind of Canada just kind of where we are. But about a quarter of the US hospital system is actually for profit. 57% is nonprofit and 19% is government owned.

So I was just like, I'd never seen a breakdown like that and that nonprofits and government hospitals can actually market and advertise, which I never thought was weird until there were Canadians in my class and we drive around with them and they're like, why is there a billboard for a hospital? Yes, especially I live in New York and all of the top hospitals, their advertisements are on all the bus stops, all of the city ride city share. Yeah, Ryan Reyes, who also won an award today.

So shout out to him, I hope I'm pronouncing your last name, right? He was also talking about like the Medicare conversion factor and how this ends up whatever Medicare says is kind of a baseline of what insurance companies use as like an example. And you know, it was just an awesome talk and I think I have to go back to really, like, take it all in. But as I was attending that we kind of, um, you know, went over different lectures. So you attended one more in the Oncology Space?

Which makes sense because that's a big area that you work with in terms of your clients. Yeah. Yeah. So I wanted to go to the economics one. So I'll definitely have to dig deeper with you. It's interesting, I think it's ever more relevant for G CS to be aware of those larger topics in economics, right? So just my two cents, it's been a wild year for us all as far as the testing landscape and layoffs and all of these things. So really excited to hear more about that.

But I did choose the somatic platform presentation, which was called How to Build a Somatic Testing Protocol in oncology. We're building the plane while we're flying it. But I like the name. So that was partly what drew me in and it had great attendance as well for Friday morning the last day. Um Saturday morning last day. Thank you. It's hard to keep track. We are running on pure caffeine. It's been a lot of content.

But again, it, it was a really good, it was a panel discussion, folks from industry, from clinic who were describing the different protocols that they have all slightly different or very different even um for, you know, do we do somatic and germline testing in a paired way. Do we do what we also know as tumor normal testing? There was someone who referred to it as Utopic when we can do those two together. And I thought yes, though, maybe not the logistics of pairing a tissue.

This is my experience in the clinic. I did some whole genome sequencing that was paired tumor normal and getting actually coordinating a tumor sample tissue and then blood and pairing those together, sending them to a lab. So you can do those analysis side by side. That is a lot of work that a lot of coordinating on.

I would assume the GC exactly which they did talk about limited resources, which is always relevant for G CS there, not enough of us but other points that they brought up were that even though somatic testing is primarily ordered by oncologists G CS are perhaps even the best suited to review these kinds of tests with patients.

So that was another I think interesting point that even though we are not ordering it, we are obviously not guiding therapeutics or telling people what treatment they should have based on their somatic testing, we also understand the difference between that testing and germline. And so it was a really wonderful conversation really relevant.

And one of the big takeaways, which this was also a takeaway and one other talk um that I attended, I was really excited about it was called Not All actionable variants in BRC A one and BRC A two are created equal challenges of classifying and interpreting reduced penetrance variants. This is super relevant for me as well along with the somatic for two reasons.

One, as we test more people with somatic, we're finding there's a lot more unexpected what we call secondary or incidental findings on germline testing than we would expect. Does that mean as the cancer is progressing, there's more and more pathogenic Varian mutations there and looking at what those are because I haven't worked in cancer in a while I can define a little bit here.

So for somatic testing or if you do germline testing in someone who either has, let's say leukemia, for example, or metastatic solid tumor cancer, there is a possibility that the DNA we are sequencing, we're extracting it from leukocytes and the blood or the saliva, especially if someone has the leukemia, there's a possibility that you know, their leukocyte DNA is mutated. There is cancer happening in those cells.

So it's hard to sometimes differentiate between true germline versus the cancer cell. Oh I don't know if I ever really understood that issue. So this is one of the most common, I'm telling you, one of the most common things that I hear as a GSL on the industry side as a lab, GC clinical G CS are having a very difficult time because we often, we simply cannot tell the difference in the origin is this somatic acquired.

This is something that this person developed in their lifetime because of their cancer diagnosis. Or is this germ line? Sometimes the variant allele frequency isn't enough for us to determine that. So that was what that talk was about. And I just loved hearing that. One of the the resources they shouted out were lab G CS because we see this. We need y'all. Yeah, I mean, it just made me feel good to know that um folks know that they can and should come to us in that.

Again, we see this all the time. Whereas for those in the clinic, it's gonna be a little rarer. You're not going to see it all the time and that's a perfect opportunity to call those who see it often. Um And then the last, like I said, I mentioned that BRC A one and two that is also something as we test more people. We are just finding that there are BRC A two and BRC A one mutations that are seen in fanconi anemia that perhaps have some kind of reduced penetrance or lower cancer risk.

Um So these are complicated to counsel on and that's another one where there's kind of not a lot of guidance out there on what to do. So we had some great case examples and a geneticist tell us what she recommends for her patients, which was helpful. Um But again, one of the key messages was call your lab ask them what they know about this variant where they're coming from with that classification.

And they should be able to at least point you in, in some kind of a direction people like you that are on the lab GC side, you get to see all of your clients cases. So it's really magnified with like your end number is gonna be bigger than any one oncology, cancer genetic counselor, which I think is like such a resource and then you get to tap into the database of the lab that you work for to look at even more.

So I think it's just like such a great resource and especially for I know a lot of people listening or you know, newer genetic counselors or students like, oh my gosh, I have to say lab G CS got me through, I would say the first six months of my job, I didn't know what I was doing, right. And I want to also say it goes both ways like we need each other and collaboration is always the way to go.

And so one of those ways is you telling us about your patient's clinical history, your phenotype, whether that's on the test requisition form or in your pedigree that helps us classify the variant and learn more. We're building the plane as we're flying it. So working together is the only way we don't have guidance.

So we all are going to need to work together so that labs know what we can do best to support you while also keeping in mind simply that the science is gonna science, the science is gonna, science is gonna science and we're all gonna need to figure it out together. Yeah. Yeah, I think so. And I think in terms of figuring it out together.

A I has been such a game changer and just, I think outside of genetics, just in general, I think a I, I've said on other episodes of this show that it's the word of 2023. I think I'm, I'm calling it myself. Um We'll see what times has to say about it. Um But yeah, so the last session that basically close NSGC that which we just walked out of is embracing artificial intelligence in genetic counseling, transforming patient care and enhancing clinical outcomes.

And I mean, I was just like taking in everything that they were talking about and a big theme was just being able to streamline. I think if we can utilize A I to take a lot of the admin work and hours out of that, so then we can see more patients for those that are in a clinical role, some of the ways to use it that they either mentioned or I was thinking about during the presentation is like helping it write letters like letters of medical necessity.

And after having a I basically write a draft of a letter of medical necessity or other information we can add ph I in after the fact, but that it's stressed and I think it needs to be stressed as much as we can that like you cannot put in patient specific information into this that could be violating. Hi, a and it's like, obviously name, date of birth, we think of that.

But at the same time, it's like if you're talking about like a nano rare disease, there's less than 30 people affected in the world by you putting in just some information about the disorder that could reveal who it is. So I think it's, it's really this fine line of, we're figuring it out almost like you said, we're, we're building the plane as we're flying it.

I feel the same way about A I, but there's so many great ways that we can use it and even I use it as a podcaster because for that, there's nothing hippo related to like podcast content creating like outlines for a genetic counseling session or saying here's how I would explain some kind of genetic concept. But can you rewrite this to be 1/4 grade reading level?

And then you can say, oh, now I can kind of present that someone during the talk, which I didn't catch their name was talking about how they use A I to prioritize different variants while they curate so that there's often hundreds of variants if we're looking at like diagnosing a rare disorder let's prioritize these 10 variants and say, oh,

these are more likely to be causative of the phenotype that we're seeing and the symptoms and maybe give us that diagnosis and then if it's not in that top 10, then keep going. But can you imagine how great that streamlines? I mean, I've never done varying curation. Right. I think there's just the point being here, there's just so many ways that A I is going to impact genetic counseling and has already these are tools in our toolbox and there are a lot of what ifs.

But yeah, that that example of even variant curation, what we think of as filtering in the bioinformatics pipeline. A lot of the field is moving towards exome whole genome. That's a lot of data, a lot of data. And should they mention this was someone from Alumina mentioning, you know, when you sequence all of that, you just have hundreds, if not thousands of variants to go through that you need to figure out if they're clinically relevant and then they are going to manually curate these things.

There is gonna be a human expert in genetics who goes over that. But if again, to your point of streamlining, if we can use A I and language models to better understand where they should focus their time theme of NSGC focus, focus. Um That is where I think we're gonna all start to embrace A I. Even if there are still lots of what ifs and what, what, you know, what do we do about this and how could this go?

There are a lot of ways it could go and we don't know, that was the other kind of summary there was, we don't know, we're figuring that out as we go. Yeah, including liability and legal issues. Your partner actually wrote a book called The Spring of Sight Rob Biscoe. And so he talked a lot about A I and computer vision. And so I'm actually excited, I'm going to be interviewing him about that. I went to the book launch party.

And one thing that we were kind of like talking about over a lovely Charcuterie board is bad data in bad data. And that was something that was kind of brought up.

I don't remember them using that phrase, but that we have to be careful and it's not going to resolve a lot of issues we have in the field in terms of a lot of our data from people is like European based, I've interviewed Dr Eric Green and others that are involved in the pan genome project where I think we already have like 37 people that come from very different areas of the world where we've deeply sequenced if I'm using that right of their genome.

And I think the goal is to have like a couple 100 so that we're not just referencing a few in our database when we're looking at variant curation of like people that are more European ancestry and really being able to look at way more people because then our variants are going to be more accurate, classified. Yeah, I think that's a great kind of analogy for G CS to understand that concept of bad data in bad data out.

So we know exactly our reference genome being biased inherently and and really only being representative of one ancestry, so to speak is going to make it difficult for us to analyze those who do not identify or come from that same ancestry.

So how do we say if this is a benign variant or if this is pathogenic when the reference itself is not representative, that is very similar to the, the issues we are facing in A I where the training data sets as they call them might have inherent biases may only be representative of men, for example, or white folks or what have you. Um If we, if our training data sets are bad, it's bad data in bad data out. Yeah, definitely.

So I'm excited to ask Rob a little bit more about that and I'm really excited we're gonna be recording NBC Universal Studios. So that one you're gonna wanna watch on youtube because we actually have like awesome four K footage. So um yeah, whenever we record there, it's, it's a good time. But yeah. A as Catherine and I were saying, there's just so much to cover. So we kind of just sat and we're like, oh, let's just kind of chat and instead of just chatting us, I'm like, why don't we record it?

I want to shout out to the Ambry party. You work for Amy as we, as we mentioned. But Ambry uh for the years, I've physically been to NSEC where it hasn't been virtual so far. They've been my favorite parties. I do have to say it's the only party I made this year. So, um, I, yeah, I was just too tired as you could tell from my voice. Probably the exhibit hall had so many awesome booths, more booths than I thought there was gonna be this year.

Um So it was great just to so many people, we got deep dish, not once but twice in the week. We were here and a hot dog and a Chicago dog and it was phenomenal. So great popcorn. Two G, shout out to Garrett's popcorn. I told me that was what you're supposed to get here. Ok. Awesome. Feel free to sponsor this episode. Um But yeah, we had some awesome views that were like rooftop bars and everything. Um, and we got to go to the Sarah Lawrence reunion.

So that's always cool to see some of our classmates and other people of other years that we know and, and people that have been in the field a while. But yeah, I just want to thank everybody too that came to the pre con. So I didn't really talk about that. I just referenced it, but um it was really awesome. I'll have more information there in terms of just genetic content creation and we'll link to that. But it was awesome just to connect with. I think there were about 60 ish people there.

So that was great to like just be in person and it was 5.5 hours long. So for everybody that attended that, thank you for your energy and longevity. That's at the beginning. Yeah, I already started out a little tired. Um But yeah, so as I mentioned at the top of the show, would love for you guys to join myself and Catherine and other DNA, a team members um to chat about Gattica because it's been 26 years since this came out.

Um So you can become a Patreon supporter at Patreon dot com slash DNA today podcast. We'll have a link to that in the show notes and stick around. We're gonna be talking to Rob Biscoe who's Catherine's partner about his book. So we're gonna link to that in the show. There are a lot of links in the show notes today. My gosh, how many times have I said this? Um But yeah, it was just lovely meeting so many people. If I saw you, hopefully I gave you a sticker. That was really fun.

I got a yes, you did get a sticker. Um If you didn't then find me at the next NSGC. I'll have more stickers, hold me to it. Um But yeah, thank you for everybody that attended the conference that we got to talk to. Um, hopefully everybody is like on their way home or listening to this later after they've rested. That's what we're doing tomorrow. Resting. Yes, it was a great NSGC and I'm going to go sleep all day tomorrow. Yes. Possibly on the plane ride home. We'll wake each other up.

Um But yeah, so hopefully everybody enjoyed it and we'll see each other at the next genetic conferences if it's not NSGC. All right. All right, bye guys. For more information about today's episode visit DNA today dot com. Or you can also stream all 200 plus episodes of the show including video versions of interviews recorded in 2021 or later. Any questions, episode ideas, guest pitches or sponsor inquiries can be sent into info at DNA today dot com.

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