#314 ASHG 2024 Recap
25:55 Share

Looking to jumpstart your career as a genetic assistant? These essential roles involve patient communication, data management, genetic testing coordination, and admin tasks, making proper training a must. The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine is a top choice. DNA Today listeners rave about how this course boosted their genetic counseling skills and prepared them for grad school.

The spring cohort starts soon on January 27th, so apply now before it's too late. The program includes two 10-week instructor-led courses. Armed with a basic science background, you'll earn a certificate from the Johns Hopkins School of Medicine upon completion. You'll also gain practical skills and insights from leading instructors that will give you a competitive edge in genetic counseling and related fields.

Learn more at dnapodcast.com slash sponsors or simply search Genetic Assistant Online Training Program Johns Hopkins.

When it comes to your health, knowledge is power. I've always believed that the more we understand about our bodies, the better decisions we can make, whether it's about the food we eat, the exercise we choose, or how we plan for the future. But traditional healthcare often feels reactive and not proactive. That's why I'm so excited about 23andMe Plus Total Health, a longevity platform that puts you in the driver's seat of your health journey.

With 23andMe plus Total Health, you get advanced genetic screening, giving you insights into your potential future risks, and comprehensive blood testing throughout the year to track how your health is changing. It's a level of personalized care that goes far beyond the one-size-fits-all healthcare system that unfortunately we're used to. Advocate for your health today. Go to 23andMe.com slash DNA Today to receive 10% off your Total Health membership.

Again, that's 23andMe.com slash DNA Today. You can also find this link at DNAToday.com. Take charge of your future health with 23andMe Plus Total Health because your health deserves a personalized approach. How is it that we find ourselves surrounded by such complexity, such elegance? The genes of you and me. The genes of you.

They're all made of DNA We're all made of the same chemical DNA

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 Today has brought you the voices of leaders in genetics in over 200 episodes. For the past three years, DNA Today has won the People's Choice Best Science and Medicine Podcast Award. I'm Kira Dineen. I'm a certified genetic counselor and your host. ♪

The American Society of Human Genetics annual conference is now wrapped for 2024. It took place in Denver, Colorado. So it was a snowy week for everybody over here. And to provide a bit of a recap, I just wanted to talk about how great the conference was, highlight a couple of the talks I was able to attend. And later in the episode, we are going to get to an interview with Science Geek Games

founder, Lindsay. So we're going to talk about that and how she had a booth and kind of talk about what we learned in just kind of networking in the exhibit hall. But I think the most interesting talk that I got to go to was about Mendel's Peas. So good old Mendel. Dr. Gregory Raddick presented on this. And I thought this was just so interesting. I hope I do it justice in terms of recapping this. So

What his talk was about is where we came from in terms of Mendel's piece, everything we learned from that. And, you know, we all learned in middle school, high school, doing the Punnett squares and all of that. And he provided this really interesting reflection on someone I had not heard of and that their research got a bit lost. And it provides a lot more

I guess, contacts of that maybe Mendel's peas were not as simple as Mendel made them out to be in terms of his research. And so for those that maybe don't remember, and they're like, Mendel's peas, that sounds familiar, don't exactly remember. So Mendel looked at, and this was what, 1800s? I'll fact check in the show notes there. And he looked at different

traits of peas, if they were green or yellow, if they were wrinkly or smooth, factors like that. And it was binary. It was one or the other. And it was interesting that Dr. Radek kind of talked about the contradiction to that, that isn't there a spectrum? Doesn't it kind of go from green to yellow, where it's not just one or the other, but like many genetic problems,

conditions, disorders, most things in genetics, it is a spectrum. And then he made this funny joke where it's like more like 50 shades of green. So everyone got a chuckle out of that one. And he really, and apparently he goes into this in his book, which now I'm going to add to my Goodreads list. So I'm going to link to that in the show notes as well. There's this alternative to

way of thinking in terms of more of that spectrum and not the binary. And that's Weldonian. So he talked about this other scientist named Weldon. And he was writing this book to talk about this concept that these are spectrum traits, and it is not binary. Unfortunately, he died at a very young age at 46. Of course, this was a long time ago. But his book never got finished. It was unpublished. And

So what Dr. Radek talked about was what if Weldon lived long enough to publish this book with complexity as the norm and that straightforward, you know, Mendelian genetics of the Punnett Square story

That was the exception because we see that in genetics. And it's very interesting that many of us in school, at least I can speak to United States schools, we learn about genetics starting with Mendel's peas and these concepts of the Punnett square. And, oh, okay, it's that 25% chance of having this exact phenotype based on that genotype. But what if we consider reframing how we teach genetics at that point?

middle school, high school level when people are first introduced and introduce it through this Weldian framework of everything is complex. Genetics is complex. And then talk about how Mendel's is much more straightforward, right? But that's the exception. It was really interesting. He did this study of just looking at this and teaching

And he got a grant for this to run an experiment where genetics education really started with Weldonian as opposed to Mendelian. And I'll link to the papers in there as well from Nature in 2016 and another paper in 2017 in Science and Education. And it was just...

fascinating that the more you learn about genetics, the less comfortable you should be with genotype predicting phenotype. And I think that's a concept I've only appreciated in recent years because I used to think, oh, if that's your genetic testing says this, that's going to be the symptoms that you have. But we have learned and continue to learn and be humbled by this in the genetics field that it's a lot more complicated. I'll

I'll quote my professor, Laura Herscher from Sarah Lawrence, who's been on the show many times. I can link to that in the show notes as well. A lot of episodes about abortion legislation, which obviously is very timely now. And, you know, she says genetics, it's a lot more complicated than we thought. And I'm paraphrasing, but, you know, it really is. And by looking at genetics first through Mendelian genetics and looking at it through that lens, you

Dr. Radek in this presentation was explaining that it's really exaggerating the simplicity of the conditions, right? And even it was interesting that in his study, he

He learned that there was an uptick in racist attitudes as well of just, oh, this disorder is exclusively in this genetic ancestry. As an example, he gave Tay-Sachs being much more prominent in the Ashkenazi Jewish population, sickle cell disease being a lot more prominent in the African ancestry, reinforcing some

I don't want to say stereotypes necessarily, but exaggerating the simplicity and just who is affected by this. And we see this in different disorders. Someone has cystic fibrosis and it goes undiagnosed because maybe they aren't white. And so I think that it is important to look at it that way. And in a lot of ways in education, we do want to start with simplicity because that's important. Have a baseline and then you start adding the complexity to that. But

Does that backfire when the simple cases are the minority in genetics? I do wonder how that would look if we reframed it and the way that we teach genetics through lectures and different activities and starting with the Wellendonian mindset and then talking about Mendel's peas and the Mendelian genetics and learn that that's a special subset of conditions and

So very interesting presentation. I thought it was, I just thought about it in such a different way because obviously we've all learned about Mendel's peas and yeah, just interesting to hear something really pushing against that narrative. The presentation after that was by Dr. Athena Starlin Davenport. Hopefully I'm getting the name pronunciation correctly.

And Dr. Starlin Davenport talked about sickle cell disease and really building upon the presentation before about Mendel's peas and like, you know, genetics is not as straightforward in most cases, talking about the complexities of genetics.

just within sickle cell disease. And with sickle cell disease, we often, and I have used this as an example of one of the more genetic genotype to phenotype straightforward conditions, certainly one that is very, very severe and affects people's lives tremendously. From a genotype to phenotype, we've kind of seen that as pretty straightforward, right?

Instead of an adenine, we have a thymine. So that changes one of the amino acids and leads to the sickling of cells, which can cause pain crises and other symptoms. And this is often, I would say, the number one condition that is cited as, okay, yep, this is a great example of a Mendelian disorder. Again, simple genotype of literally one base pair change, and those are the symptoms that

But it's so important that we do talk about the symptoms really can differ and environmental factors play a big role in this, right? I'll link in the show notes to a bunch of episodes we've done with people with sickle cell that often I hear them use the term sickle cell warriors, which I think is amazing. And

There are things like when people with sickle cell are exposed to really cold environments and weather that can escalate their chance and be a factor in terms of having pain crises. On top of that, it's not just the...

A to T, change. There also are modifier genes. This blew my mind. I was not aware of this. You guys know on the show, I love sharing. I had no idea about this. Let me teach you because I just learned. So there are other genes that if they are different, affected, have different variants, that can actually affect the symptoms differently.

that someone has with sickle cell. We even, we know about this through people with sickle cell that have higher fetal hemoglobin levels because that can kind of compensate for the sickling of their cells and be able to help in that way. And

It is interesting just how many of these genes were mentioned and that I had not, I had heard of obviously the fetal hemoglobin levels and how that can, that can differ. But so interesting that there's all these other genes and I don't really hear that being talked about. And there's a lot of treatments. Obviously we've talked to Victoria Gray earlier this year about her experience with sickle cell and what led her to be the first person in the world to

to have her symptoms be eliminated from doing the now FDA-approved CRISPR treatment for sickle cell disease. In her case, she's asymptomatic now. Dr. Starlyn Davenport talked about how these really amazing FDA-approved treatments, you know, from December 2023, they're awesome, but they're millions of dollars for one injection. And it's just not always...

feasible and we still need a lot more research and understanding and treatments developed for sickle cell disease. For sickle cell being the condition that most people point to in terms of this is a Mendelian condition, but is it? Because you have these other genetic factors that can alter someone's symptoms and disease progression and all of this. So even one that we consider, oh, this is like, you know, the one that we cite as being Mendelian,

I think it's really interesting to think about it that way. And what about other conditions? Are there other genetic modifiers that affect the phenotype of conditions that we've been considering them to be Mendelian? And maybe they're not as we learn a lot more about these, we talk about polygenic risk scores and so on.

That's almost, there's a lot of similarities here of having, you know, polygenic, multiple genes affecting a person's phenotype and symptoms that they have. These genetic modifiers for sickle cell disease, it really does affect what people experience in terms of their symptoms. And also, how can that not affect how we develop targeted therapies for this condition that affects so many people? 8 million people are affected by sickle cell.

It's just, this is a condition that affects so many people and I think it's fantastic. And what a landmark achievement that we do have an FDA approved treatment using CRISPR. However, that's not the end. We got to keep going. So I think, you know, those were my, the talks that I found to be the most interesting.

So I'm sitting here in Lindsay's booth and I'm so excited to talk about Science Geek Games. So Lindsay, tell us a little bit about first, maybe your background, because of course I found a genetic counselor to talk to. Like genetic counselors find other GCs. I know. We just gravitate toward each other. We really do. Yeah. Yes. Yeah. So again, Lindsay Zetsche, I have been a genetic counselor for 20 years now.

And I have worked in clinical, in peds genetics and biochem genetics, moved to the laboratory at Mayo Clinic Laboratories, which brought me to Rochester, Minnesota. Sure. And then worked at UnitedHealthcare for several years as well. Which is interesting. There's not a lot of genetic counselors that have worked in insurance. Right. Especially you did it for four years. I did. I did. And I do have strong feelings that any place that is

making genetic decisions and policies. There should be genetic counselors there at the table. I agree. Yeah. And during that process, I also got my MBA because I realized I needed to increase my business knowledge to be able to be successful and to pitch ideas and to be able to back it up.

The genetic game, so Science Geek Games, I found it this past year. - Yeah, so tell me about, your game is called Variation, at least the one that I'm aware of. - Yes, and that's the first one. That's the only one I have right now. - I like how you say the first one. Like there's more that I can get into here. - Oh yes, this might turn into an empire. - I love it.

You guys heard it here first. Yeah, yeah. And so, you know, I started during the pandemic. I had a little too much time on my hands and started thinking about... So instead of baking bread, you're like, I'm going to make a game. I was not a bread maker. I was a game designer. My first idea was a board game called Found in Translation, but that ended up being a little too hard to produce. So really went with a card game that's really teaching some of the basics of genetics, like DNA bases,

ANT matching, C and G matching, that can start with elementary school students and gets more complex. There's several different ways to play and they build in complexity and so some of the ones that have DNA sequence cards which come with genetic facts

They, you know, players can race against each other to build the complementary DNA sequences. Very fun. Yeah, and I've already gotten into a couple of middle schools to, you know, share a little bit of a genetics lecture and follow it up with a game. Because I do think, you know, people learn the best.

Oh, definitely. When they're playing, when they're being playful. As I mentioned, you know, some of my jobs were not very playful. Right. So this was a really great outlet for some creativity and just, I think, embracing some of the joy in genetics. Right. So it has been, I came to ASHAG.

This is the first time I've been at a conference for this, for my company. And I wanted to get out in front of a bunch of science geeks and specifically genetic geeks. And the timing is good. It's before the holidays. That is very good timing for this conference. Yes. Yes. And so I ended up getting a booth. I was pretty nervous about it just being the first time I'm coming out here. And, you know, it depends.

frankly does cost a little bit of money to get a booth. It does. I don't think people realize how much booths can cost. Yes. Yeah. So I will say that economics were maybe not on the side of, you know, selling games here, but it was for making connections. And I wanted to get out here, brand awareness, and find other people who are excited about games. And...

I really, I feel like it's been successful for that. I've gotten some great ideas. Even through the NIH pavilion, I found out about some small business grants I might apply for. I've heard from people who have ideas on what are some of the different audiences it could go to beyond students in high school, middle school, but things like medical students, grad students, what are some of the topics they're interested in.

and even people from different countries that might want to partner and help get it published in different languages too which is really cool and even some stem camps i had someone who wasn't attending the conference but was one of the vendors came by and said that yeah that he's involved with a stem camp and that he was interested in having some of these

for the camp members and I thought that was lovely. So yeah, yeah, and just got some I think great ideas for future directions and connections with others.

Looking to jumpstart your career as a genetic assistant? These essential roles involve patient communication, data management, genetic testing coordination, and admin tasks, making proper training a must. The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine is a top choice. DNA Today listeners rave about how this course boosted their genetic counseling skills and prepared them for grad school.

The spring cohort starts soon on January 27th, so apply now before it's too late. The program includes two 10-week instructor-led courses. Armed with a basic science background, you'll earn a certificate from the Johns Hopkins School of Medicine upon completion. You'll also gain practical skills and insights from leading instructors that will give you a competitive edge in genetic counseling and related fields.

Learn more at dnapodcast.com slash sponsors or simply search Genetic Assistant Online Training Program Johns Hopkins.

When it comes to your health, knowledge is power. I've always believed that the more we understand about our bodies, the better decisions we can make, whether it's about the food we eat, the exercise we choose, or how we plan for the future. But traditional health care often feels reactive and not proactive. That's why I'm so excited about 23andMe Plus Total Health, a longevity platform that puts you in the driver's seat of your health journey.

With 23andMe plus Total Health, you get advanced genetic screening, giving you insights into your potential future risks, and comprehensive blood testing throughout the year to track how your health is changing. It's a level of personalized care that goes far beyond the one-size-fits-all healthcare system that unfortunately we're used to. Advocate for your health today. Go to 23andMe.com slash DNA Today to receive 10% off your Total Health membership.

Again, that's 23andMe.com slash DNA Today. You can also find this link at DNAToday.com. Take charge of your future health with 23andMe Plus Total Health because your health deserves a personalized approach.

Going back to what you were talking about of you were in the NIH section and they have their lots of booths that are related to NIH organizations and projects. And we have an exciting, I'll just kind of, you know, I'll tease a project coming out with them in 2025. So listeners can keep their eye out for that. You'll be hearing a lot more from Eric Green on the show. But.

What is interesting is you've come from this background of genetic counseling and then you're like, I need a little bit more business savviness and got your MBA. Um,

Not a lot of genetic counselors do that. I mean, I'm another genetic counselor that has a business. This podcast is, you know, one of the things that I do in terms of my business. What have you found to be helpful in terms of being a genetic counseling entrepreneur in terms of what you have been able to learn through the NIH and just like what is available? I will say in general, I'll say one thing that's been helpful is talking with others and reaching out.

not be an island, not just try to go it yourself, but really trying to reach out there because there often are really good resources. And sometimes you have to talk to several people. There was a, I'll give a shout out to Renee Ryder over with NHGRI, and she was doing a little bit of research on my behalf to see like what grants or what programs might apply to me, especially with this idea that

Some of these games, while they're helpful for children, they ultimately can help the population be a little bit better informed, have better genetic literacy and awareness, especially now that genetic testing hits across the lifespan. I mean, you've got prenatal, you've got

personalized medicine, pharmacogenetics. You've got even now cancer, not just hereditary, but all the tumor testing. And I think it really benefits our population just to understand some of the basics of DNA and genes and what's behind it as well. Have that baseline so that as they learn more in a genetic counseling session or with another healthcare provider, they're like, oh, I know what you're talking about. Yes, yes, yes.

And so, yeah, within the NIH thing, you know, have identified, I think, a few different areas of grants that I could potentially go after. I'm definitely going to be signing up for some of the, they have classes on how to write grants because that is a new skill I have to unlock. All right, you'll have to send it to me because it sounds like I should sign up with you. Yeah, yeah, yeah. I need to unlock that. Sometimes I do like to actually think about, like, life things, like, here's a new challenge. I'm going to get extra points.

when I get to this next level. Right, yeah. Yeah. So I think, again, being curious, reaching out to others and finding, you know, there's people who have connected with me and there's some ways that my game might help something that's already in, you know, in progress.

but also ways that I might be able to build additional games or get additional funding and figure out what is the most effective way to get these out there and let people have fun with genetics. Yeah, and with the game variation, true to the name, there's different ways of playing it. And it also, as you were saying earlier, some of them are for...

different ages. And so you kind of goes up and almost like some of those games where it's like, you know, elementary school to like in your nineties or something like that. It seems to be like, that's the case for this game. And so I'm sure, I mean, you're talking, if anyone's listening to this podcast, they are also a science geek, so they should buy your game. Where can people find it to look at it? Especially if they're say program direct

and they want to give a little thing at the end of the year, maybe for graduation or something, or just to have a couple in the break room for students. I mean, there's just so many different people that are going to be interested in this game.

people that are like all right i want my kids to be exposed and learning about genetics this is a fun way to do it those are the ones i think of off the top of my head yeah i think there's a lot of great groups it is uh sold on amazon oh great that's really easy yeah with free shipping you know arrives in two days so if you look up variation dna matching game you'll be sure to find

And we'll put the link in the show notes for everybody too. And yeah, they'll have to keep updated of just new games that come out and you'll tell me and then we'll tell the listeners. But yeah, this has just been great. I'm glad that you could come on and tell a little bit about your game and just how the experience at the conference has been, especially with this being the first time that you've had a booth yourself for Science Geek Games. Yeah. Thank you so very much. Of course, Lindsay.

The conference overall was awesome. There was a lot of awesome parties. I was able to go to some happy hours. A shout out to Sano Genetics, Dr. Patrick Short. We've been on each other's shows. He runs the Genetics Podcast.

And they did an awesome happy hour. It was cool to be attending another genetic podcast event. And that definitely recommend you guys checking out Dr. Short's show there. ASHG is a conference I definitely recommend. It's a lot bigger for people familiar with

NSGC, National Society of Genetic Counselors. We also did a recap episode on that about two months ago. So it's definitely a bigger conference. You have to really figure out what you want to prioritize, but I definitely recommend checking it out. It's really just, you get to meet so many interesting people. And in terms of the exhibit hall, as you heard earlier in the episode, there is just

So many different exhibitors and the exhibit hall is much bigger. So in some ways, it's a little more intimidating. But I got to meet so many new people and it was incredible. And I'm already looking forward to next year is going to be in Boston. So being, you know, based not too far outside of Boston, I'm looking forward to being able to drive up and go and

And yeah, the next conference I'll probably be going to is ACMG. I believe that's in LA, but that's not till 2025. But yeah, if you guys go to any conferences, you're like, ah, maybe Kira would be interested in that. Please let me know. I'm always looking to add new conferences and travel to the calendar. It was awesome to meet so many of you. So looking forward to the next conference already. ♪♪♪

For more information about today's episode, visit dnatoday.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 dnatoday.com. Be sure to follow us on social media, especially so you don't miss a giveaway. We are at DNA Today Podcast on Twitter, Instagram, LinkedIn, Facebook, and more.

Please rate and review the podcast on Apple, Spotify, or wherever you listen. This truly helps us climb the charts and allow more genetic nerds like yourself to find the show.

Here's a bonus. If you do and send us a screenshot, I'll give you a shout out on the show. DNA Today is created, hosted, and produced by myself, Kira Deneen. Our team includes communications lead, Corinne Merlino, video lead, Amanda Andreoli, outreach intern, Sonia Tanaykar, social media intern, Kajal Patel, and graphic designer, Ashlyn Anokian. Thanks for listening and join us next time to discover new advances in the world of genetics.

And they're all made of DNA We're all made of the same chemical DNA All made of DNA

Looking to jumpstart your career as a genetic assistant? These essential roles involve patient communication, data management, genetic testing coordination, and admin tasks, making proper training a must. The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine is a top choice. DNA Today listeners rave about how this course boosted their genetic counseling skills and prepared them for grad school.

The spring cohort starts soon on January 27th, so apply now before it's too late. The program includes two 10-week instructor-led courses. Armed with a basic science background, you'll earn a certificate from the Johns Hopkins School of Medicine upon completion. You'll also gain practical skills and insights from leading instructors that will give you a competitive edge in genetic counseling and related fields.

Learn more at dnapodcast.com slash sponsors or simply search Genetic Assistant Online Training Program Johns Hopkins.

When it comes to your health, knowledge is power. I've always believed that the more we understand about our bodies, the better decisions we can make, whether it's about the food we eat, the exercise we choose, or how we plan for the future. But traditional healthcare often feels reactive and not proactive. That's why I'm so excited about 23andMe Plus Total Health, a longevity platform that puts you in the driver's seat of your health journey.

Again,

Again, that's 23andMe.com slash DNA Today. You can also find this link at DNAToday.com. Take charge of your future health with 23andMe Plus Total Health because your health deserves a personalized approach.