Positive Gene Podcast: Ep #13: Genetics in Action: Connecting Families to Prevent Cancer with Dr. Brian Shirts, ConnectMyVariant.

(Links mentioned in the episode are located at the bottom of the page)

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Sara: Hello everyone. Welcome to the Positive Gene podcast where we help those living with hereditary cancer risk feel empowered through stories, resources, and lots of information. We have a special episode here today. I'm meeting in person with Dr. Brian Shirts of Connect My Variant. He is new to the national area and I'm so excited we get a chance to meet together and have this wonderful conversation you're about to hear about the great things that ConnectMyVariant is doing for those of us in the hereditary cancer space. Dr. Shirts is the founder and president of ConnectMyVariant, a nonprofit organization dedicated to ending hereditary disease by helping families connect and share life-saving genetic information.

Dr. Shirts developed ConnectMyVariant while working as a molecular pathologist at the University of Washington. In his current position, which has brought him here to Middle Tennessee, is associate professor of pathology, microbiology, and immunology at Vanderbilt University, his passion lies in making genetic knowledge accessible and empowering families to take control of their health and using these innovative family-based approaches to prevent disease. And what I love about ConnectMyVariant is that you're not only bridging medical knowledge and family connections, but this is creating a ripple effect of prevention and awareness across generations.

And I'll have a personal testament to that just today while we talk through this. So I think this is really fitting for the theme and really the purpose of the Positive Gene Podcast - bringing awareness to organizations such as yours that are only going to help propel our knowledge going forward. So all that to say, Welcome Dr. Shirts to the Positive Gene Podcast.!

Dr. Shirts: Thank you so much, Sara for having me on. It's really a pleasure to be here with you.

Sara: Awesome. So let's get into your journey into genetics. Let's start with your story. So you've dedicated your career to hereditary disease prevention. You founded ConnectMyVariant. So talk me through what inspired you to focus on this mission and how your journey has evolved over time.

Dr. Shirts: Thank you. I got excited about genetics as a high school student and as an undergraduate. A lot of genetic discoveries were going on. People identified the BRCA1, BRCA2 genes. Listening to genes were identified about that same time and I thought it was just really exciting. And as I trained, I went did a PhD in human genetics, did medical school, and did a residency and fellowship doing genetic testing. And then I got into work and started doing hereditary cancer testing as a physician. And what I saw was that 80% of the time when we had diagnosed someone with hereditary cancer, that person already had cancer. And it was only about 20% of the time that somebody was getting testing because they had a family history and they wanted to know about it or a scenario is if somebody in their family told them they had a risk and they were getting tested because they had a higher risk that they knew about in their family.

And you know I'd gone through all this training and learned over and over again that the reason why we're doing hereditary cancer risk testing is because when somebody finds out about their risk before they get cancer then they can prevent that cancer. And the prevention we have is really very effective.

And so when I started seeing the lack of progress over the last 20 years in really making an impact in prevention, that's really what made me realize that's what I wanted to dedicate my career to, was making sure that the technology that we have can get to everyone and do what it's supposed to be doing, which is making sure that people who have hereditary cancer risk don't get cancer.

Sara: That's amazing. Let's talk through what that looked like for you when you had this realization that people are finding this out way too late.

Dr. Shirts: So after seeing that there is this gap, then I'm a researcher and I did a lot of research and worked with a lot of other people who are doing really good research in that area. Deb Bowen did a lot of research in family communication. Mary Claire Kings at University of Washington and I talk with her a lot. She identified the BRCA1 gene.

And there's an enormous amount of data that shows that if somebody knows about their risk, then that person talking to their family members and having their family members get genetic testing is extraordinarily cost-effective from a healthcare system point of view. It's like the lowest hanging fruit in terms of prevention.

And there's an enormous amount of data that once people know about their risk that the prevention actually works and when people access the best prevention, then their lifespan is equal to lifespan of everyone else in the population. So there's just all of this data, but there's also a lot of data that shows that it doesn't really happen very often. Like people don't talk to their relatives as often as they should. And so then I started to do a lot of research into why that doesn't happen and collaborate with some of these researchers about figuring out why the family communication doesn't happen. And there was a few breakthrough moments that led to ConnectMyVariant. And two of those breakthrough moments, I want to tell you about two of those breakthrough moments...

One of them was we were doing research with Heather Hampl and Rachel Perlman at the Ohio State University who have a big population screening for Lynch Syndrome study. And we found that the people who had exactly the same mutation share the same haplotype. And what that means, that technical language means that when two people have the same mutation, then 90% of the time they have a common ancestor. And so that was one of the realizations. Rachel Perlman actually found two people that had the exact same mutation they'd never seen before except no databases, but they were both in Central Ohio. And she was like, you know, two people, what are the odds? They have the same mutation and they both live in Central Ohio. And so she borrowed her mom's ancestry.com account and with their permission found out that they were third cousins. And after that has identified over a hundred people who are at risk for Lynch Syndrome and who've gotten testing and are now getting the right prevention. And so for me I was like, wow, this is amazing. And I asked Mary Claire King who has this huge BRS/A1/BRS/A2 database, have you ever seen this? And she's like, oh, let me see. And she had four different third cousins she connected and a dozen second cousins she connected. And every single one of them, same thing, you know, connect second cousins then 12 different people find it. Connect third cousins and 40 different people find it at risk.

And I started looking around to say, had anyone ever done this like as a public health initiative? Did anyone ever, you know, instead of just researchers doing this, can patients do this themselves? And so those were kind of the "aha" moments of saying, well, people are doing this. And so we started a study that was funded by the Broughman-Batey Institute at the University of Washington. And it was actually one that I had to kind of shoehorn them into funding. They wanted to do a big population screening study of just testing everyone. And I said, okay, I'll lead the population screening study if you let me see if people, if this whole connecting people makes sense. And so they gave me the funding to do it and almost all the funding went to the population screening study. A little bit of the funding went to the connecting people.

But what we found, it was supposed to be a three-year study. Within a year, we found that not only did people like it and people want to do it, but there were some people who were coming to us and saying, "where have you been for the last five years? Like, I've been trying to do this on my own." And I've talked to researchers and they won't tell me who else has my variant. I've talked to clinicians. They won't introduce me to anybody else they know in the clinic. And of course not. You know, there's HIPAA and there's these research guidelines that don't allow people to do it even if they wanted to. And so then we were like, you know, this is something we really have to expand. And then the research study ended and we shifted to a public health initiative after a year. And then after that shifted to a nonprofit organization so it could grow.

Sara: So as you're leaving Washington, you get to take this program with you?

Dr. Shirts: It's not part of the University of Washington. The University of Washington was wonderful in getting it off the ground and getting it started. And we're just kind of reaching the point now where we have to find our own way funding wise. And so if your listeners want to donate to Connect My Variant, they're welcome to. Every dollar helps a lot of people prevent cancer.

Sara: Well, that's great. I guess if I can ask, clearly your education and that medical background was the catalyst for you. And I didn't put this on the question, but it occurred to me to ask if you were okay with sharing, do you have any personal connection to hereditary cancer risk that you'd be willing to share?

Dr. Shirts: In my family, I don't have any personal hereditary cancer risk. I have relatives who've had cancer but no hereditary cancer in my own family.

Sara: Well, we appreciate you having you on this side of the space. So, all right. Well, so now let's talk through now that we got the background in the history and really the experience that led you to form this organization. Let's talk through for the listeners who may have just discovered that they have a genetic variant. What are the first, maybe even people who have known for a while and didn't even realize that ConnectMyVariant exists, right? We've got a captive audience here who are learning through this podcast and through other networking resources like Force, My Faulty Gene, Eye Care Registry. We've got so many great organizations who are trying to push many resources out there to help people understand their genetic risk and what the implications of that look like. So, if people have just discovered it or you've known for a long time and you're still trying to figure out what this looks like for you, what are some first steps that people would take with Connect My Variant to navigate this information that they have and maybe potentially connect with relatives through this process?

Dr. Shirts:  My advice would be actually if someone's just found out they have hereditary cancer would actually be go to those other resources you mentioned first. Go to Force, go to MyFaulty Gene, go to AliveandKickn, and go to these other organizations that really focus on the patient experience and what you should do as a patient with hereditary cancer risk. ConnectMyVariant is really focused on the family outreach piece and oftentimes that's the second thing people think about. And so, if you don't have cancer, if you are interested in helping your relatives, and if you're at that stage then ConnectMyVariant is where you should be. And so, take care of yourself first and ConnectMyVariant isn't about taking care of yourself, it's about taking care of your family members. Once you've taken care of yourself then ConnectMyVariant is the place to be.

And what's the experience of people, and I actually like you to talk about that. When you invited me to be on the podcast and when you found about ConnectMyVariant, I asked you to sign up for ConnectMyVariant to figure out what it was for yourself and I'd like you to tell me what your experience was.

Sara: Yeah, it was great. I mean, I made the connection through the website, I think initially, well it was through you guys and then I was able to get a link to provide my information. And so, ConnectMyVariant.org and you click the sign up button.

Dr. Shirts: And how hard was it signing up?

Sara: It was super easy. Yeah, you've made the process very easy. I had to provide my genetic information, like my chart that I received from my genetic counselor.

Dr. Shirts: Yeah, the hardest thing is in order to connect you with people with the exact same mutation, we want to have that information. And so, the "c." and "d. numbers, so the numbers and letters that are followed by that "c." and "p." dot is the hardest thing for people to find. And they can find it on their genetic test report or you can upload a copy of your genetic test reports. If you don't want to upload a copy, you can just put that information in there. And if you don't have it, you can sign up and then our coordinator, Betty, will contact you and say, "Hey, you didn't put your information in. Do you have it? And can I help you find out what it is?"

Sara: Yeah, yeah, she did great. As soon as I filled out the form online, I got an email welcoming me to the program and what to expect. She also offered to have a phone conversation if I wanted to just answer any questions. And that was about mid-December, early December. And just today, coincidentally, I received both notifications from Betty on other people with my particular variant. So I have Lynch Syndrome, MSH6, and then my "c.", I think is for Lynch syndrome. And then for my CHEK2 mutation, I have connected with, it looks like one other person within the ConnectMyVariant space. So in my MSH6 or my Lynch Syndrome space, I think there are about five or six of us on the list of people I can potentially reach out to by email. It just provides a first name in an email, and those folks have all agreed to say, "Yes, I want to be in communication with other people with my particular variant." And I think that's amazing. So we can reach out to each other and kind of see, you know, where do they live, I guess, and, you know, maybe find a way that we can find a connection.

Dr. Shirts: Yeah, and that's exactly what you should be doing. That's exactly what ConnectMyVariant is designed for. And so what you'll expect in the future, then, is you can reach out to those people on your own terms and kind of how they want to connect if you want to, after you email them, if you want to give them a call, that's great. If you live in the same area, you can talk to them. If you want to have them on your podcast, then that's something you can do.

And the other thing we can do is we can help you with genealogy as well. We provide free genealogy assistance through the BYU Center for Family History and Genealogy. And that's usually for groups that have more than two or three people. With one or two people, usually people are kind of trying to figure it out on their own. And we get bigger groups than what we try to do is have one of those people volunteer as what we call a variant champion. So somebody who has the variant, who wants to lead the efforts of those people, bringing them together. And so if you had signed up and there had been 30 other people with your variant, you wouldn't have got a list of 30 people. You just get a list of one person saying, "Here's your variant champion." They're gonna introduce to everyone else. And that's to help keep privacy so people aren't getting long lists of long email lists. And some of those variant champions have put together Facebook groups. Some of them have put together what that group groups put together. Really, it depends on what the variant champion wants and where that person is. And so those groups get together and can share their stories, can share their relatives.

We have a few groups now that are finding ancestors that lived in the 1700s and 1600s, which is really, really exciting. It takes a lot of effort, a lot of time for that, and we're just getting started as a nonprofit. So I think that that'll happen more and more in the future. The other thing we do that's, I think, really exciting is that we provide family outreach navigators. So if somebody really doesn't know how to do this family outreach thing, maybe they can talk to their kids and their parents but don't really know how to reach out to their crazy uncle or reach out to their cousins, or maybe even have a hard time talking to their brother, then we have trained family outreach navigators who are volunteers who can walk you through that process, can tell you who to talk to next, which side of the family potentially to look on first, and those family outreach navigators can really walk someone through the process.

They can also be someone who can hold that person accountable if they want that. You can follow up over six months or over a year and say, "Hey, you said you were going to talk to your cousins, how did that go?" And it can help with those difficult situations, if there are difficult situations in the family. So that's really exciting, I think, for some people to be able to have someone else who knows how to do it. Sometimes people walk out of the appointment with their genetic counselor and the genetic counselor, they're overwhelmed. The genetic counselor says, "Go talk to your family members, maybe give them a family letter, but then doesn't give a whole lot of advice about what to do next." And so those family average navigators can help somebody walk through that process.

Sara: So I have two follow-up questions related to the ancestry piece that you mentioned. Many of us have done 23andMe. Can you talk through how this is different than maybe what you might find on a 23andMe? I might know the answer, but I want to hear from your perspective.

Dr. Shirts: So what you might see on 23andMe or AncestryDNA or MyHeritageDNA or any of those, they're going to tell you, "Here are a whole bunch of people you might be related to." And they're not going to tell you exactly how you're related necessarily. And those are people who have some type of genetic connection with you. ConnectMyVariant doesn't do that type of genetic testing, we're introducing you to people who have that exact same mutation. But it can be used in kind of a similar way in saying, "Well, we know we have some common ancestor somewhere."

And in the initial research project we did, we looked to see kind of how likely it was that two people who had the same mutation would be matches on 23andMe or Ancestry. And it turns out that if they are matches, it's an indication that they're very close relatives, like second, third, fourth cousins. But many times two people with the same mutation wouldn't match on Ancestry. And when we looked closer at some of the more advanced tools like GEDmatch, then some of them had like only three centimorgans or one centimorgan of shared DNA. So they did share DNA around that segment, but it was too small for Ancestry or 23andMe to find.

And so just because two people don't show up as matches on Ancestry or 23andMe doesn't mean they didn't share their mutation from the same place. Now, 90% of the time people share the mutation from the common ancestor, which means 10% of the time they don't. And so there are instances where there's two different founders or, and so they, they're people actually don't share that mutation.

What's really exciting, which I didn't realize you could do until we connected with the BYU Center for Family History and Genealogy is what they do is when they get like a dozen people that have the same mutation, then they start doing this DNA triangulation thing, which I'm not a genealogist, I'm not an expert at doing, but what they'll do is they'll find people, the two people that have the same mutation, a bunch of people have the same mutation. And what they do is they find shared segments between those individuals and they find other people that share those segments. They might be on a completely different genes, like MSH6 on chromosome two. If you were connecting up with a bunch of people, then you know you have a segment on chromosome two. It might be too small for Ancestry to be able to detect, but you might share segments on chromosome three or chromosome six or chromosome 12 with these other, with other individuals. You find other people who share those chromosomes. Those people likely inherited that chromosome from the common ancestor that you share with the other people.

So then they do genealogy, then they do the family trees on those people. And so they get family trees from like three or four people. And some of these people have, don't, don't have any Lynch syndrome or any hereditary cancer risk in their family, you know, going back multiple generations. But they still use those to be able to find the common ancestors. It's amazing. So yeah, that's probably too technical. But you asked about Ancestry. So the short answer is that Ancestry is not necessary at all to do ConnectMyVariant, not necessary at all to connect with other people who have the same variant and get a lot of benefit from connecting with them. And most of the time, if people are going to be relatives that find each other's relatives, they're going to be like third or fourth, second, third or fourth cousins. And then the documentary genealogy is more powerful than Ancestry.

So occasionally with these big groups, then the Ancestry work really helps to find connections. And that's where we have the professional genealogists to help.

Sara: Yeah, that's great. All right. Thank you for taking us through what this process would look like. Now that I have my connections, I'm really excited to reach out to them and see what comes of it. So maybe a year from now, we'll have you back on the show and we'll do a follow up.

Dr. Shirts: That would be wonderful. I'm excited to hear back from you about what happens when you reach out to the people that you met. And I think it would be wonderful if a year from now we can come back and talk about your common ancestor.

Sara: Yeah, absolutely. Let's plan on it. Okay. Now you've mentioned the family outreach piece. That's the most significant element really in the ConnectMyVariant space. And I'm glad you made that clarification, right? I really appreciated at the beginning of the podcast when you said, "Hey, take care of yourself. If you're newly diagnosed, take care of yourself. Make connections with these other resources out there and get an understanding of really what it means to have this risk, but then take care of your family." And so let's talk about this a little bit more around the family communication. You talked to a little bit more in what you guys can do to provide that, but we have had Dr. Tuya Pal, Dr. Marleah Kruzel, and others, we've all talked about communicating with your family in some capacity. And it's a very powerful yet underutilized tool in hereditary cancer prevention. And it's such a big opportunity. And so can you go into a little bit more detail about how Connect My Variant addresses this family communication piece of the process?

Dr. Shirts: Yeah. Well, first I have to say this is what it's all about. This is where prevention starts. No prevention happens without family communication. Every single person who prevents hereditary cancer does so because they know about... Because they've talked with their family members. And that may be because they've heard about the cancer in their family and didn't know it was hereditary and saw the pattern and was the first person who got tested hopefully before they got cancer. Occasionally that happens. But most often it's because somebody gets cancer, they get genetic testing, and then they're able to talk to all their family members and let those family members know. That family communication is so critical and it's something that you have to do. And it doesn't matter how you do it, but you have to do it.

And the most powerful stories I've seen are where people tell their family members and then follow up and meet their family members where they're at and make sure those family members know about it. And then realize that it's going to be a process for those family members and it's going to take time sometimes for those family members. Some people, they get it immediately and they're like, "I saw what happened to you or what happened to mom or what happened to grandmother or aunt or whatever." And are like, "I'm on board at the beginning." But there's a lot of family members that it's a little bit slower for them to process that. And my experience, the experience of everyone I know in the area and the experience of everyone I've talked to is that sometimes it just takes time.

We had a graduate student talk to a dozen families and as her thesis follow their pathways and we found that getting more people involved is useful. And so thinking of your family not just as yourself as the... I have to do it all by myself, but think of who's my team to be able to do this. This is something that really helps people be successful. Is your sister the person who's the family communicator? Is she the gossip? Is she the one that talks to everyone about everything that's going on? Well, that's someone you should rope in. Maybe she already got tested and she tested negative. That's okay. Even though she tested negative, she can still talk to the family members. Maybe your spouse is the person who's the one who's better at talking to people. There are a handful of people who are deeply involved and ConnectMyVariant who don't have hereditary cancer themselves, but they've seen their spouse or their children go through cancer and they're like, "I don't want this to happen to anyone else." And so they're talking to their partners, parents, children, siblings, cousins, and their partner is totally on board with this. They may be going through cancer treatments. And so someone's saying, "I don't have to do this myself. I can bring a team on board to help me with this, to walk through this."

And that's part of what these connections are all about. Having someone else to connect with who has your same variant could be someone who could give you ideas, who at least can tell you the story, who you can commiserate with about your family communication. Having those family outreach navigators and those variant champions or other people that you can just say, "Hey, I want to do this. How do I do this?" Or, "I've been incredibly frustrated at my daughter's not getting genetic testing."

For example, one of our board members has been, "I've been working with her and she's been reminding her every time I can to say, 'Hey, how's it going with your daughters? Have they got genetic testing yet?'"

... it's a process. And it works over time. It's not like wearing people down. It's just reminding them that this is something important to you and it's something important to them. And sometimes out of the blue people, we'll be like, "You know what? It's time. It's time for me to do this."

And that's okay, especially for younger individuals. If someone's in their 20s, then their risk is still pretty low and they might want to wait for five or 10 years before they get tested. And that's okay. From a healthcare standpoint, that's okay.

Sara: What are some of the barriers then that you're seeing? I mean, we've talked about this in past episodes, but what are some of those barriers that you're hearing from people who've gone through ConnectMyVariant that are keeping their family members from getting tested? What are things that you're hearing?

Dr. Shirts: Well, the people who sign up for ConnectMyVariant are usually amazing and want to help their family members get tested. But we hear all sorts of things about barriers from family members. Sometimes it's just people want to make that own decision. Sometimes people actually get tested and don't tell their relatives.

Sara: Yeah, I've heard that too.

Dr. Shirts: And that's fine. That's totally fine. So the barriers, I think, some of it are genetic education. Some of it's just autonomy. People want to make their own decisions. Some of it's fear. To overcome the barrier of fear, sometimes it's useful.

And again, the family outreach navigators can kind of brainstorm different ways.

But sometimes it's really helpful for someone to know that, to think more about testing negative than testing positive.

To say, "A sibling might have a 50% chance of testing negative, or aunt, uncle, or cousin might have a 75% or higher chance of testing negative." And so to tell somebody, "You have a 75% chance of testing negative, and if you test negative, your kids don't need to get tested at all." And sometimes that motivates people to say, "Oh, you're going to talk to my kids if I don't get tested, and I'm going to take that burden off them." And so sometimes it's useful for people to think about other people rather than themselves. And that helps break down those barriers.

Sara: Yeah. I love that. That's a great suggestion. Okay. Do you have any specific stories that you would like to... You've already shared some great examples, but is there any examples that have stayed with you or really exemplifies the power of family connection?

Joann's story shared from Dr. Brian Shirt below.

Dr. Shirts: Yeah. There's so many stories. And that's the thing I absolutely love about Connect My Variant is that there's so many amazing stories. And like I said before, some of them take time to develop, but we are just a positive story generating machine. And it's just so wonderful to hear all the stories. One of the ones that stands out to be most is actually one of the people who's stories on our website. And she has Lynch Syndrome, and she is from Trinidad and Tobago. And she found out about Connect My Variant and started reaching out to her family members and found family members in New York who had her variant and in Los Angeles who had her variant and in Trinidad who had her variant. And some of them, they don't know how they're related. Well, they don't know exactly how they're related, but they know which is the great-grandparent who it came from. And so she has just been incredibly active in some of the things that they've done to be able to get genetic testing and to be able to get this communication has just been extraordinary because the genetic testing infrastructure in Trinidad and Tobago is not phenomenal.

And it's amazing to see her dedication and how she's been able to do this communication across international borders and areas where there's not as many resources we might have here in Nashville. And it's also been really wonderful to see how she's been able to work with some of the genealogy experts that we have who have gone in and said, "Okay, Trinidad doesn't have the best genealogy records that are publicly available," but giving her advice about how she can find that, how she can do that work around. So I think that's one of the really fun stories that's been challenging, but it's still been a really powerful success story.

Sara: Yeah. Well, and those of us that are newly going through this experience can learn from their experiences and how to navigate that process. I'm third generation in the US, right? And so long lost relatives over in Europe somewhere. I don't even know where we would even begin to start that. But knowing that there are resources out there to potentially help us through that is helpful.

Dr. Shirts: And it's incredibly exciting to start to find some of those distant relatives. And actually, I think it's even incredibly exciting to be able to talk to your aunts and uncles and cousins and find someone who tests negative and says, "I don't have to worry about it," or tests positive and says, "Now I know what to do."

Sara: Yeah. And we'll link in the show notes that story that you just gave as an example. We'll also point back to our conversation with Dr. Marleah Kruzal. She is the cancer researcher, cancer communication specialist. And so she had some great suggestions for people in having these conversations with her family as well.

Dr. Shirts: And she is an expert and that has wonderful stories too.

Sara: Yeah, absolutely. If we have healthcare providers that are listening to this, you mentioned, and this may have been maybe on your website or somewhere, that family outreach isn't widely integrated into healthcare in general. So what can healthcare providers do differently? What is a message that you could tell them how they can better support guiding their patients through family conversations or family communication?

Dr. Shirts: Yeah. Well, I think genetic counselors as a whole do a phenomenal job with the time they're given and with the resources they have to be able to help people with family outreach. Unfortunately, most genetic counselors don't have the resource to be able to follow up over time to be able to provide this family outreach navigation. And like I said, aren't set up to be able to connect people with the same variant. So genetic counselors can refer people to connect my variants. It's a free resources. It's open for everyone.

If genetic counselors are interested in integrating Connect My Variant into their health clinics, then right now we have an opportunity and we have a system set up so that we can partner with the health institutions to have an institution specific signup page. And that will allow us to collect data for how well patients are doing in their family outreach, how engaged those patients are with ConnectMyVariant with their family outreach navigators and provide feedback to the healthcare systems so that they can improve their process.

And so if genetic counselors listening are interested in that or if patients want to tell their genetic counselors or their healthcare institutions to be involved in ConnectMyVariant, then they're welcome to reach out to me and we have that process now. And what we hope would happen then is for every patient who gets a diagnosis, when they go out the door, then they have their family letter from their genetic counselor and they have the ConnectMyVariant QR code to be able to know where to sign up and to be able to know how to have those resources immediately so they can start that follow up process with their family members.

Sara:  That's great. You're making it very easy.

Dr. Shirts: We hope to make it easy. And we're really looking, this is a brand new thing to connect with the healthcare institutions. And we're really trying to make that something that hopefully is standard of care five or 10 years from now.

Sara:  When we talk about prevention in this context around understanding your family history, oftentimes it's, as you suggested, it's because you might know there's a family member who already had cancer, you might go get tested. But it's prevention in this context, not only going after getting the genetic testing, because those of us that even have been genetically tested and do our screenings and have preventative surgeries can still end up with cancer. So take me through what that prevention piece looks like. And I'm going to figure out where I want to fit this into the podcast, but it keeps coming back into my mind when you say prevention.

Dr. Shirts: And I'm going to be handling that from two angles actually. And you can keep either one of them or both. So from the prevention piece, when somebody knows about their cancer risk, when somebody knows about their cancer risk before they get cancer, then they can do increased screening, surgery, and other things to prevent cancer. And that depends on what the risk is and it depends on where they're at and what their decisions are. And some of those are more effective than others. Colonoscopies are very effective, but not 100% effective in preventing cancer in people who have hereditary colon cancer risk.

On the other hand, getting a hysterectomy when you're done having kids is 100% effective at preventing a pneumetrile cancer. So you can have your risk go from close to 50% to zero. And that is like pure prevention. So things are different depending on what it is. But in order to really do prevention, you need to be plugged in with the healthcare system. So that's one piece of prevention that we're talking about. I think the other piece of prevention is that ConnectMyVariant is involved in. And this is the Positive Gene podcast. And I love that because I think knowing your risk really is a huge positive. And ConnectMyVariant and these family connections, I think, turn it into an even bigger positive. Because what we're trying to do is make people feel less isolated or help people feel less isolated in their diagnosis and realize that this is making you part of a community, a family, and not just your immediate family, but also potentially connecting you up with a big network of relatives who have a common ancestor and empowering people to be able to turn that genetic knowledge into something that's not just good for them, but good for an enormous number of people.

Sara: Yeah, absolutely. Future generations.

Dr. Shirts: For many generations. And whether somebody decides to have prenatal genetic testing or whether they decide to have kids when it's right for them, I don't think really matters. Because if somebody knows about their risk from the time that they're an adult, then anyone I know with hereditary cancer risk can live a long and healthy life and have the same lifespan and have the same positive experiences that every human being can have. And so that's a very personal decision that I think is, at least it's available as a decision once people know about their risk.

So I love your message as the Positive Gene Podcast. And I think that I'm really happy to be here because I think that the communities that connecting with other people can provide is really an exciting and positive experience.

One of the people that was one of the first people who signed up for ConnectMyVariant, I actually started, was involved in it before ConnectMyVariant even started, was somebody who I did genetic testing for, knew her from church. She said, "Hey, can I come in and talk about genetic testing?" And I said, "Sure." Came in, actually found out that I had signed out her genetic test, even though that I didn't know about it before. And she was like, "You know, I'm really the avid genealogist, and this is the branch that has my PALB2 mutation is the one that I don't know very much about." And so she saw the genetic variant as a way to connect with family members she hadn't been able to connect to before. And so just all sorts of positive things can come when people see this as an opportunity to be part of a community and to extend their family network.

Sara: Yeah, that's great. Well, let's look ahead. Okay. All right, so let's talk about the future of ConnectMyVariant. So looking ahead, what are your goals over the next few years, and what do you see evolving in the hereditary disease prevention space?

Dr. Shirts: I can't tell you how excited I am about ConnectMyVariant. So it's only two years old as a nonprofit organization, and enrollment has grown by about 5% per month. And so we have almost 2,000 people who've signed up in different ways so far. And the more people that join, the more connections people form. And it's really an entirely volunteer-driven organization. I do this as a volunteer. All of our board members are volunteers, and we have like one part-time volunteer coordinator. All the family outreach navigators are volunteers. And it really is to empower individuals to connect with their own family members and to form their own communities that are passionate about hereditary cancer and about hereditary cancer prevention. And as the communities grow, they're just getting stronger. And some of the groups that we see that have started to find connections back to distant relatives and to distant ancestors, the next person who signs up is then going to be able to make it that much easier to tie into that.

And one of the most powerful things I've seen is when second or third cousins connect, and then they start systematically going through every single descendant of their common ancestor to be able to say, "Who have you talked to? Have they got tested yet? Maybe it'd be better for me to talk to them. And we're going to come up with the family reunion. That's a good time to be able to see people planning that is just so powerful."

And the scientific data suggests that if everyone reaches out to their second cousins, if everyone has the ability to reach out to their second cousins, then we could prevent, or we could identify everyone with hereditary cancer risk in the United States in about 10 years.

Sara: Oh my goodness. That's amazing.

Dr. Shirts: And it would take a lot of work and a lot of people, but that's the goal. That's the goal is to be able to have-

Sara: All right, listeners. Let's do this. You heard it here. That's the goal. Start by going to connectmyvariant.org and let's help you achieve that goal. I think that's pretty amazing.

Dr. Shirts: Well, it's you all, listeners, achieving the goal. My goal is just to help people make it happen. But I'm amazed at how many amazing people are really pioneering the work on their own families and really taking charge of the work on their own families. ConnectMyVariant is really just helping people do what they want to do already.

Sara: Yeah, that's great. Well, let's give you an opportunity to leave a final message. I mean, you've already left us with so much to take away from this and I'm sure people will be reaching out and asking questions or going to your website to learn more. I hope they do because you have nothing to lose by taking the next step.

So for anyone listening today, whether they've recently been diagnosed or simply want to support the cause, what's one step they can take right now to make a difference for themselves and their family?

Dr. Shirts: Yeah. Well, first, if you haven't talked to your family members, tell your family members about their risk right now so they can get genetic testing. If you have wonderful talk to more family members, there's only one person I know who has talked to everyone they can possibly reach out to and they are a professional genealogist who had reached out to third cousins. And if you are that one person, then help other people do that. And I just want to leave people with the vision that it's possible. It takes work and it provides an enormous benefit to themselves and their families. And it's just so much fun to see. It's so exciting to see it actually happen.

Sara:  Yeah, absolutely. All right. So where can listeners find more information about you, your research resources and ways to connect?

Dr. Shirts: ConnectMyVariant.org is the place to go and lots of information there and the sign up button is where you can sign up.

You can email info@ConnectMyVariant.org if you want more information and that's the best place to go.

Sara: Awesome. Thank you so much. I will have all of the information in the show notes. It will also be on the show blog. I really appreciate you being here today. The work that you're doing at ConnectMyVariant is not just important work, but it is really truly life changing for a lot of families. I'm excited to take the next leap myself and come back and share the story about what happens to the Kavanaugh Cobb family.

I'm grateful for your time and your insights and really the passion that you bring to this mission. We're really thankful for you.

Dr. Shirts: Well, thank you very much. The feeling is mutual. I'm really, really excited to see how it works with you and I love your podcast and the message that it has.

Sara: Appreciate that. So for anyone wanting to learn more, once again, ConnectMyVarianr.org. You can get in touch with Dr. Shirts. Head over to ConnectMyVariant. There's so much valuable information there. I've been out there multiple times and just in preparing for the podcast, but also for just starting my journey on your organization. It's a great place to start if you're navigating hereditary cancer risk in your family.

And of course, if you haven't already, follow us on the podcast at Instagram @PositiveGenePodcast. You can check out full show notes, resources, links, photos, whatever we're going to pull from today's show and get that at www.positivegenepodcast.com. And remember, you're not alone in this.

As you have heard today, we have said multiple times, there is a whole community out here ready to support you. We have incredible resources that we have mentioned today. My Faulty Gene, ICare Registry, FORCE, ConnectMyVariant. So many people in this space that are here to guide you through every step. And each of these, they play a unique role. It's connecting families, advancing research, providing practical tools to navigate hereditary cancer risk. But together, we create a powerful network of previvors, survivors, family members, and loved ones. So stay connected, stay informed, and most importantly, stay empowered.

Thanks for tuning in. I'll see you next time.

Resources Mentioned in This Episode:

• Connect My Variant: https://connectmyvariant.org

• FORCE: Facing Our Risk of Cancer Empowered – https://www.facingourrisk.org

• My Faulty Gene – https://www.myfaultygene.org

• ICARE Registry - https://inheritedcancer.net/

• BYU Center for Family History and Genealogy - https://cfhg.byu.edu/

• AliveAndKickn (for Lynch Syndrome) – https://www.aliveandkickn.org

• Positive Gene Podcast Blog – https://positivegenepodcast.com

Want to support this incredible work? You can donate to help expand family outreach and cancer prevention efforts here:👉 every.org/connectmyvariant

Disclaimer:

This podcast is for informational purposes only and is not a substitute for professional medical advice. Always consult your healthcare provider with any questions about your health.

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