#316 Cascade Genetic Testing: How “Connect My Variant” Empowers Families
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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.

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So it's very exciting. I am here at NSGC and we're recording this live in person, which I don't get to do that much. So I would love for both of you just to introduce yourselves so people know your name and your voice here. And we're going to be getting into family history and the importance of cascade genetic testing today. So Dr. Schertz, do you want to start off on a little bit about yourself? Sure. I'm Brian Schertz and I'm a molecular pathologist here

And I founded Connect My Variant, which is a nonprofit organization, about two years ago. And based on some research that I did at the University of Washington about new tools and better ways to help people with family outreach, specifically for cascade testing for hereditary cancer, cardiomyopathy, really anything where family outreach is important, then that's where Connect My Variant can help people. Yes. And people might be familiar if they've been listening for years because you were on episode 175. Yes.

two years ago in 2022. So it's been a little bit. It's been a little bit and things have changed a little bit. I'm really happy to be back on the podcast. Yeah, we ran into each other at your booth and I was like, wait, we got to do an update on everything happening, which we'll get into. But Katie, did you want to introduce yourself and kind of explain your role a little bit at Connect My Variant?

Yeah, sure. Hi, I'm Katie Mehta. I'm a current senior at Dickinson College and I'm a family outreach navigator for Connect My Variants. So we connect with individuals with hereditary cancer risk, talk to them about their progress with reaching out to family to get additional testing, and then overall just be like an emotional cheerleader for the process. Yeah, that is amazing. And that it's a volunteer position and such an important one. Yeah, I think I first found out about it a little

A little over a year ago, I saw it on the genetic counseling discord page. Very nice. I'm familiar with it. Yeah. And I was super interested because I'm interested in cancer genetics specifically. So it was a cool opportunity and I really enjoyed everybody like Brian involved in it. So yeah. Dr. Schertz, do you want to give us a little bit more of a background for those that maybe don't remember because it was two years ago? We'll link to the episode in the show notes for people that want to go back to our original conversation.

But for those that are lazy or already washing the dishes and they can't get to their phone to go to that episode, can you give a little bit more information on what is Connect My Variant? What are the goals that you have? And then we're going to get more into Katie's role and a lot of the objectives you guys have and how you actually do it. Great. Thank you. Yeah. Connect My Variant is a nonprofit organization. Our mission is to prevent hereditary disease by bringing families together.

And what that means in layman's terms is that we want to help people with family outreach. We want to help people with this cascade testing because we know it's something that doesn't happen naturally, except for a few families who kind of get it. So for most people, they need some support.

And initially we did research that showed that if two people have the same variant, they had a 90% chance to have a common ancestor. And we found out that connecting those individuals together allows them to do more things than they would do normally for family outreach. And we provide free genealogy assistance. But what we found was that we were hoping that we'd be able to find common ancestors for a lot of people. And we found out that's really, really hard. We have three or four variant groups that have actually traced

their genealogy back to ancestors in the 1600s and 1700s. But that's the exception to the rule and that takes a lot of effort. That's like being on Finding My Roots, that TV show. It is, yeah. And we have professional genealogy assistants from the BYU Center for Family History and Genealogy to get people that help to be able to do that. But for most people, they didn't have that. But we found even for the people who couldn't find common ancestors...

just meeting someone with the same variant was really helpful in helping them kind of think outside the first degree relative box into maybe their more distant relatives and also to have somebody else that they could talk to that was like, this is something different. But we also found that we wanted to give people more assistance just with the basic family outreach to first degree relatives and second degree relatives. And so Emily Malouf, who's a genetic counselor at the University of Washington,

put together this training plan for family outreach coordinators, this idea that we could get volunteers. And initially we were thinking maybe patients would want to volunteer to do it. And in the end what happened was that pre-genetic counseling students saw this and thought that's a fantastic volunteer opportunity. And so almost all of our family outreach navigators are pre-genetic counseling students and they do a fantastic job. We give them about eight hours of training,

Both didactic training and also some training of kind of watching somebody else do a family outreach thing. A lot of emphasis on that they're not providing care. So if somebody needs to get genetic counseling, they should refer them to a genetic counselor. If they need genetic testing, they should find a genetic counselor they could go to. If they're asking about, you know, surgeries or things. Related.

We're like, no, let's not go there. We're going to find the right person for you, a health care provider. That's exactly right. But they are doing exactly what Katie mentioned. And so we train them well, and we hope they have a good experience. There's a lot of... Not everyone is excited to have a family outreach navigator, but there's a lot of people who really appreciate it and really benefit from having that support. Yes, because it can be really challenging to find out you have some kind of genetic change and, okay, that...

let's say that increases your risk for cancer. And then you're like, okay, I want to tell other family members, but how do I do that? For people that find that they have a genetic mutation, and let's say that increases their risk for cancer, they say, well, if I have this, other biological family members statistically might as well. They have a very high chance, especially for those first, second, even third degree relatives. Katie, with your role,

how do you help people and what kind of information and tips do you give them in terms of if they are looking to reach out to other family members? If they're like, I'm

I'm kind of estranged from my sibling, but I do want to give them this heads up because I still care about them and I want to make sure that they get the care they need. Does that fall under your scope as well? Yeah, we can help them. We can offer to help write letters to individuals that are estranged. Definitely, there's a lot of guilt sometimes associated with, I don't want to bring this news to somebody. And so...

What I've said mostly is just start with the basics. You don't have to explain everything all at once. And then start with the people that are closest to you and then expand out from there. And the more experience that you get reaching out to people, the easier it gets, I think. Yeah, I would think so. And that makes sense to start with people you're closer to that you have relationships with. Even if you had relationships in the past, like in that estranged situation we mentioned earlier,

When we branch out a little bit further or sometimes people, it's a close biological relative, but they've never met socially. They're not in their lives in that way and they're reaching out for the first time. Is there also advice you have in that situation in terms of kind of someone introducing themselves and then saying, hi, I'm this to you, I'm this biological relative, and this is what I want you to know? Because that can kind of seem like, is this a scam? Right. I think in today's day and age and with the AI coming out,

You know, it can be a little alarming. Is this something that is real? What's going on with this? Is there insight you have in terms of helping making that a smoother process and the least awkward it can be? Yeah, it's definitely difficult. And I would say just don't bombard them with all of the information at once and try to establish that rapport with them before explaining what's going on and why you're reaching out.

And also, you don't have to have the right answer all the time is something that I've noticed and I've helped to tell people. Just being there for your relatives and supporting them, you're not the genetic counselor in this situation. You're just relaying the message to them so you don't have to feel pressured to give them exactly the right genetic information that you received. Right. It's not like they became a genetic counselor overnight kind of thing. It takes a couple years. Exactly. Minimum for the grad school part. Exactly.

So in terms of that then, what are some common situations? Like I mentioned like a cancer situation where maybe like a BRCA change, genetic change is there or what are the Lynch syndrome genes? But Dr. Schertz, you mentioned

like a, say a cardiomyopathy and like something like that, a lot of that is coming up much more in terms of the cardiogenetic space really expanding. I would say even since I graduated four years ago, what would be a situation where, I guess, like what would an example of a gene be or a certain clinical diagnosis that is because of a genetic change in that cardiac space? Because people are less familiar with that, I would say.

Yeah, really anything where there's any prevention that can happen is where we want to be. We haven't really been in a space for recessive diseases very much or for things like Huntington's disease where there's really no treatment. But for many of the cardiac cardiomyopathies and for arrhythmias, there's things that people can do to treat or to prevent those, and early awareness is really important.

One of the examples I can see is somebody who contacted us with an LMNA mutation and they said, "You know, I've heard about ConnectMyVariant. You're not really in the cardiac space. Is this something you can help with?" And we said,

Well, yeah. Yeah. Absolutely. We're set up to do that. Let's apply it to another area because you started in cancer. I want to say. Yeah. And we actually changed our mission statement and all of our websites to talk about hereditary disease instead of hereditary cancer to be open and welcome to anybody who might come with any type of disease. So there's lots of different things we can do and different people coming with different experiences. I think, as you said, in the cancer space and cardio, that

those are the ones that occur to me the most in terms of prevention.

in terms of like symptoms and different interventions you can do as well of warning other family members. So I think that makes sense of starting in cancer and then now expanding into cardio. Are there other areas too? I know you said this model works for everything that's inherited. Recessive conditions, that's a little bit harder because it doesn't pop up as much because both biological parents need to be the carrier for the same condition to potentially pass that on to a biological child.

But are there other kind of common examples you think of or other areas of genetics? Those are the areas where we're most focused, but I'm willing to be surprised. If a patient comes to me and says, you know, this is something that's inherited, where family outreach makes sense and prevention makes sense, then, you know, we...

Don't say no. Yeah. If you start in metabolic, say, or something. I'm trying to think of an example that would be one that would make sense. And maybe that would be one. Possibly. Again, recessive doesn't really make a lot of sense. That's true. A lot of metabolic is recessive. And when there's no real treatment or prevention or value of the early diagnosis, then also we're trying to stay away from that. Sure. And I want to circle back to something you said at the beginning, Dr. Schertz. So you mentioned that when we find...

a specific variant that is different and that comes from the name Connect My Variant. You named it very well or whoever did. Was that you? Yes. Love it. You nodded for those that are here. So when it comes to that of the research, you mentioned that if someone has the same exact variant, it's very,

very, it makes sense that they do have a common ancestor and they are more closely related. Like all of us sitting here, we are related to some extent because we're humans, right? So we have some kind of common ancestor there. But in that way, I think that's so interesting and just the way that people can connect with people with the same variant as them and, you

understand, oh, maybe they live in a different area of the country, but they're like, hey, I ended up doing certain surveillance for this doctor was really good, if that's something you're willing to travel to. What have you heard from...

I don't want to say patients, but people that have been through this experience of that you've been able to connect them with someone that has the same variant and other families of just what they have benefited from. Like I imagine some of what I mentioned, but I'm probably just scratching, scratching the surface. Well, some of the benefit is with the benefit that I'm really interested in helping others find out about it so they can get the right prevention. Sure. But other people, you know, find certain benefits, a clear benefit of,

of just knowing other people who've gone through the same situation. Having someone else to work with, having someone else to feel like they're not alone. And then some of those connections are

are now spanning multiple continents. We have one variant where we had a meeting with people who were in Australia, New Zealand, the UK, and I think Tennessee and Seattle. Wow. And the common ancestor ended up being in England, or at least we think it's in England now. We're still trying to, the BYU Center for Family and History Genealogy is still trying to pin it down. Still sleuthing.

But it makes you feel less alone, and it makes you feel like there's other people that you can relate to. And so I think that's one of the big benefits. In the long run, we're hoping to be able to get big enough families to be able to maybe do variant-specific risk calculations.

But in order to do that, you really need over 100 people with the same variant. And so we don't have very many groups that are that big so far. But I think Katie might be able to talk about some of her experiences about where she's seen benefit to the people that she's spoken with. Yeah. So Katie, tell me a little bit, obviously, without people's names and everything, but just what you've seen over your time volunteering of some commonalities that people have experienced and just ways that it's impacted their life of just the role that you've had

in being the family outreach navigator. Did I get your title right? Yes. Okay, that's good. I feel like a lot of the sessions sometimes veer towards cancer treatment and discussing that and the emotional burden that comes along with that and also just having a variant as well, even if you haven't gone through cancer treatment yourself.

I remember specifically I had, well, I was in the UK in the fall studying abroad. So it put me in a good position to connect with individuals in the UK who were registered with Connect My Variant. And I actually had a woman that I spoke with and she had been diagnosed with breast cancer twice. She had a BRCA1 mutation and she was talking about how

she received that information about the mutation through a letter and how hurtful that was to not have somebody to talk to about it. And so I found that super compelling.

as well as like the importance of genetic counseling and having a human to discuss what's been going on and your frustrations and everything. And especially with the bigger groups that get together, it's a huge feeling of community, having people who know what you're going through and can support you through that as well. Yeah. And like you said, learning what,

people have not responded well to and having something with no return address or a way to connect back with that person that sent it to you or something like their healthcare provider or someone to have a lead and be able to make that make that connection really. 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. What have you seen in terms of the impact? You mentioned kind of just learning this information, but then being able to make medical decisions and especially in the preventative space from that.

Have there been a lot of cases where people have received this news and had time to have preventative surgeries or increase their screening, you know, especially in that cancer space? Yeah, I've definitely witnessed that with some of the individuals that I've spoken to. More often, it's a lot of things.

Things related to family members as well too. So one individual that I spoke with, she was making sure to contact her son who was about to have kids. And so that was really important for him to know that he might have this mutation. I would like to see more about the preventative aspect. A lot of patients that I've spoken with haven't been entirely focused on that.

But that's a huge benefit to this service, definitely. Even just having them be able to have the information to make that decision themselves and make an informed decision, even if they decide they don't want to do anything with the information. It's like, well, you guys have done your job in connecting those people. And one aspect, it's not just making those connections socially, but as we've been saying, giving them the information, but also making

being able to have the option of genetic testing. And so that would be cascade genetic testing. Dr. Schertz, did you want to talk a little bit more of defining cascade genetic testing, but then where your services maybe end in terms of how far do you bring people of, is it like, okay, great, you should consider genetic testing, or do you go to the point of

helping them find a genetic counselor and saying, you could do service here because you guys don't offer genetic testing yourselves. Did I get that right? That's correct. So Connect My Variant is entirely an educational service. We don't provide health care. We don't take data out of the electronic health record at all. And so what we do is we help people with cascade testing. Cascade testing is if someone has a pathogenic variant, then we

and their prevention is possible, usually for adult onset diseases, then they should be telling their first degree relatives who have a 50% chance of having that. Second degree relatives have a 25% chance of having that. Third degree relatives, now we're getting out to cousins, have a 12.5% chance of having that. And usually insurance will pay for that. And usually that indicates that person has a high enough risk that they should be getting genetic testing.

And for many diseases, then, it's a CDC public health priority to have family members get genetic testing so that they can get preventative testing. And that genetic testing is really important because Kinect My Variant doesn't provide any health care. We're just helping family members communicate with their family members about that risk. And so that family member hopefully has a letter from their genetic counselor, and most

almost all genetic counselors are going to give someone a family letter. We'll write one. I'm a genetic counselor. If a patient asks, we do it. We do it. And some people don't even wait for the patient to ask. They provide a family letter. Very true. And they say, you should talk to your first-grade relatives. But oftentimes, genetic counselors don't have the time, and they're not compensated, and their institutions are not supporting them in following up after they give that letter. And that's where the family outreach navigators really can pick up where that left off. And so they can follow up longitudinally. With our database, we make sure that

If somebody hasn't been contacted in a year, we at least send them an email saying, "Hey, how's Family Outreach going? Are you interested in getting other help with Family Outreach?" And just that reminder sometimes is enough. Sometimes our Family Outreach navigators feel frustrated because they send an email out and don't hear anything back.

But I've personally heard from people who said, thank you so much, even though I didn't want help at that time. That reminded me that I was supposed to talk to my cousin who I hadn't talked to before. And it was on my to-do list, on my long, long to-do list. And that bumped it up to where I actually spoke with somebody. Yeah. And so we don't order genetic testing. If somebody...

if a family member comes to us and says, you know, I want to get genetic testing, then we'll go to the NSGC Find a Genetic Counselor website and say, let's find someone close to you that you can go to to get that genetic testing. Yeah, and that's a great resource. Findageneticcounselor.com. We'll put that in the show notes because I've sent so many people there. Or they say, my relative lives in Florida. And I'm like, well...

unless they're in Miami, I don't know any genetic counselors in Florida. So let me go on findageneticcounselor.com and then find someone in that area. I could reach the genetic counselor. Hey, could I send a patient to you? Can I send you the pedigree, the family history? And that's so important. But as you said, I don't have a ton of time in clinic to be able to do that. So it's very validating.

from your perspective of saying connect my variant realizes that as much as genetic counselors would love to be able to do that, we're not getting paid for that time. And we don't necessarily have those hours depending on how much our patient load is and everything. So it is, it is such a much needed service. Is there anything you guys wanted to add?

end our conversation with, things we haven't mentioned yet that are really important. The last thing that I'm trying to do here at NSGC right now is find genetic counselors who want this integrated in with their healthcare systems. Great plug. Because what we're trying to do now is we have the ability to have a health system specific landing page. So it could be co-branded so it has the sign-up page but

could have your health system here on the top and a message from the health system. And what that allows us to do is know where the patients are coming from. And so we can provide feedback

back to the genetic counselor and back to the health system to say, this is the benefit that's coming from your genetic counselors providing excellent genetic care and Connect My Variant helping the family outreach navigators, helping those people find their relatives. And those relatives, they may live...

in many different places, but many of them may live close by, and that provides value to the health systems because these are high-value patients. These are patients that are going to benefit the community by prevention. It's going to benefit the health system to have those patients in their network. And so we're trying to work with genetic counselors. If any genetic counselor is listening to this, want their institution to have connect my variant specific technology

sign up page, then please reach out to us. That's amazing. It sounds like a white label situation where you can have their branding like along with yours or something like that worked in. That's exactly right. Yeah. And we want the patients to know kind of where their care is coming from and to be able to kind of feel like they're getting the best care from their genetic counselors in the health system that they're working with.

That is fantastic. And I would assume you guys probably have pretty competitive pricing that makes it really not a barrier to have this added on. Yeah, absolutely. It's an institutional subscription and it is so...

that it's a no-brainer for these teachers to be able to do this. Yes. That's amazing. Well, Katie, is there anything that you wanted to share before we close out today? Yeah, I just wanted to share, I was actually shadowing a genetic counselor the other month, and as part of the resources that they were providing to patients at the end of the session, Connect My Variant was a part of that pack.

And that just randomly happened. You're like, wait, do you know that I work with them? Exactly. And they were sharing how they weren't, didn't feel super informed about what it was. And so I was like, well, let me get on the soapbox. Exactly. So I talked to them a little bit about that and it was cool. The other patients I shadowed later throughout the day, the counselor mentioned, oh, the person who's actually shadowing you is involved with Connect My Variant and...

we highly recommend checking it out if that's something you're interested in. So I just thought that was super cool. And like mentioned before, just the continuity of care as well has been great. I've been involved with the organization for a little over a year, and I've had some people that I've been following up with consistently, you know, every few months checking in, how are you doing? How's progress been? And so it's been great to form those sort of relationships with those people and hear about how their life has been

both related to their variant and outside of the variant as well. Yeah, that's really exciting. I think just going back to that you're a senior in college, I'm getting that right, and so shadowing genetic counselors, and it sounds like you're really positioning yourself to be a competitive applicant for genetic counseling graduate programs. So would you recommend other genetic counselor pre-

genetic counselors. Like I want to call them that, but people that want to be genetic counselors to check this out as a more unique experience. That's something that is so many of the skills that we need to have as genetic counselors, but a little different than a genetic counseling assistant position or GCA position. So I guess, I mean, you're here, so I guess you recommend it. Otherwise you probably wouldn't decline the interview. I highly, highly recommend it. It's been, I

I've learned so many skills that I have not learned through any other volunteer opportunities and being able to connect with people on that level has been huge. And just one of the biggest lessons I've learned is just being able to meet people where they are as well, which I think is important in genetic counseling too. Because some family members are unwilling to be tested and it's difficult to sort of sit with that information sometimes, but you need to base the session off of that as well. And just being able to connect with people in that capacity is

been so cool. Must be really rewarding. Very, very rewarding. Yeah. And I think you'll have a leg up on a lot of other genetic counseling students once you do get matched and enroll because you're just going to be used to family history and this information and how to talk with people and

like in a patient role. So I think so many of the skills will transfer well. So we'll have to have you back on when you are officially a genetic counselor a few years from now and kind of see what you're up to, where you ended up getting a job and everything. I'd love to. I'll reach out then. Perfect. Amazing. Well, thank you both so much for coming on and finding a semi-quiet corner here at NSGC or down in New Orleans.

And thank you so much. I just appreciate a very like kind of off the cuff conversation, a little bit different than we normally do. Right, Dr. Schertz? Thank you so much. This has been great.

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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.