CODED: Genetics
CODED is a podcast brought to you by Genetic Support Foundation and hosted by Katie Stoll, MS, CGC and Dr. Stephanie Meredith. We explore the most pressing issues at the intersection of genetics, healthcare policy, and bioethics. CODED will be of interest to healthcare professionals, policy makers, and anyone interested in understanding how advances in genetic medicine are reshaping healthcare delivery and society at large.
CODED: Genetics
Holiday DNA Deals Or Pandora's Box
Holiday sales make DNA kits look like shortcuts to certainty, but the fine print tells another story. We sit down with genetic counselor and rare disease advocate Devin Shuman to pull back the curtain on direct-to-consumer genetics—how “raw data” portals overwhelm families and how risks interpreted as conclusive results quietly reshape medical records and care.
Together we map the real differences between consumer reports and clinical-grade testing: phenotype-driven interpretation, rigorous variant curation, and a plan that aligns with your health questions. Devin shares vivid cases—from anxiety-inducing “cancer” flags to companies that market tests for conditions without validated genes—and offers a practical checklist of red flags: one-click add-on reports, “for entertainment only” disclaimers next to health claims, aggressive advertising to parents, and vague data policies. We also dig into the murky “physician-mediated” loophole, why certifications don’t guarantee sound interpretation, and how third-party browsers amplify confusion with AI-written summaries and contradictory variant notes.
Access and equity are front and center. We talk tele-genetics, how to find qualified help even in “genetic deserts,” and why a short, focused clinical report can be more valuable than a sprawling portal. The librarian metaphor brings it home: you deserve a guide who knows which shelf matters, not a maze of unread books. We close with concrete steps to protect families and push for change—how to report misleading products to the FDA and FTC, and why supporting the Access to Genetic Counselor Services Act (HR 6280) can expand counseling access nationwide.
If you’ve been tempted by a holiday DNA deal or you’re navigating a diagnostic odyssey, this conversation gives you clarity, language to advocate for yourself, and safer options that respect your goals. Subscribe, share this episode with someone who needs it, and leave a review with your biggest question about genetic testing so we can tackle it next.
Genetic Support Foundation: https://geneticsupportfoundation.org/
Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/
Well, greetings and welcome to the Coded Podcast. I'm Katie Stoll, the Executive Director at Genetic Support Foundation.
SPEAKER_01:And I'm Dr. Stephanie Meredith, the Development Director of GSF and the supervisor of our letter case National Center for Prenatal and Postnatal Resources.
SPEAKER_00:So just in time for the holiday shopping season, today we're talking about direct consumer genetic testing. It's the time of year when we start seeing a flurry of advertisements for deals on at-home genetic testing. But these genetic test offerings, are they really a good deal? Or could they be causing more harm than good for you and your loved ones? We're going to dive deep into this topic, but first we'd like to share some GSF updates and related news. First, just I wanted to give a quick recap of the National Society of Genetic Counselors meeting, NSGC, and our Genetic Support Foundation event, GC's Got Talent, with the silent auction. It was an incredible event. We had most of our GSF staff in person. We had incredible talent shared by performers and gift shared by our genetic counseling and patient advocacy community. And it was such a heartwarming event. And thank you to all who participated in all the ways that you did. We were able to raise about$11,000 to help support our genetic counseling services and development and dissemination of resources. And it was just incredible. And so thanks for all who made that happen.
SPEAKER_01:And it was also just a lot of fun. We uh we got to see people's new talents that we didn't know, and I got to exhibit talents that I don't actually have. So that was fun. And we've also been doing this past month is working on our GSFY campaign. And that's just looking at how GSF is making an impact on the lives of people across the country, really, between our staff, our patients, our colleagues, and the providers and families who use our resources, because our aim really is to make sure that the people who need access to genetic counseling can get that. And then also to make sure that people are getting the information and support they need to understand both genetic conditions and genetic testing and kind of sort that out in a way that's ethical and also presents, you know, a balanced view of what disability is as well. And on that note, we did want to acknowledge the passing of disability rights activist Alice Wong. Alice has been one of the most influential disability activists of our time. She was a prolific writer and a founder of the Disability Visibility Project, which was a project to amplify the stories and leadership of disabled people. Through her scholarship and also her activism, she reshaped really how disability is represented in culture and policy. And I had the great privilege of working with her on the Center for Dignity and Healthcare for People with Disabilities as we were putting together our GAP analysis. And I remember being so excited that she even said yes to participating. It was such a big deal. And this past month, we were putting together our Alliance for Disability Justice and Ethics in Reproductive Genetics, which is a mouthful. We'll have to come up with an acronym. But I reached out to Alice among other people I really admire in the community and was so excited that I got an email three weeks ago that said yes, she was interested in participating. Because in my eyes, she's a big deal. And, you know, just to and I think in a lot of people's eyes, she's a big deal. And so it just felt like such an honor to even hear back from her and to know that she was even at that point willing to do advocacy amidst feeling probably not very well. And anyway, we are we're lucky to have had her grace our presence on this earth. And I'm so glad that the world is a better place because of her.
SPEAKER_00:So today, as I mentioned, we're really thankful to be joined by Devin Schumann. Devin is one of our amazing genetic counselors, the Genetic Support Foundation. As Devin herself has an ultra-rare genetic condition, she really brings a unique and informed perspective to the work that she does as a genetic counselor, and I think also specifically brings a lot to this question of direct consumer testing, which I think often is really preying on people who are looking for answers for rare conditions. She's been advocating for patients in this area, and we're really delighted to have her on the podcast to talk more about that. Over the years, Devin has met with hundreds of patients to review genetic test results from DTC testing. She's analyzed thousands of genet variants and uncovered patterns of false positives, false negatives, misleading interpretations, questionable recommendations provided by these labs for the very patients that are most desperately seeking answers. So today, as we're thinking about direct consumer testing ahead of the holiday shopping season, we want to give a buyer beware and just uh talk more about what these tests are, why they can be dangerous, how they exploit vulnerable families, the regulatory loopholes that allow them to operate unchecked, and what we can actually do about it. So welcome, Devin. Thank you for being with us today.
SPEAKER_02:Always love talking about this topic, and I love talking to both of you, so I'm excited.
SPEAKER_00:Yeah. So, Devin, can you tell us a little bit about your role as a genetic counselor and also as a rare disease patient and how these perspectives have shaped your work?
SPEAKER_02:Yes, of course. I always am like, what's the elevator pitch? Because telling your life story can take forever. But me and my brother actually have a condition called mitochondrial disease, which is not as rare, but the actual gene causing it is pretty rare for us. And we went through the diagnostic Odyssey. We didn't know what it was for almost a decade or two. I wasn't diagnosed till I was 18, though I showed symptoms from birth. So I really, that was my first experience in genetics was being the patient and being on that side of it. And so when I heard about genetic counseling and honestly, a free lunch in college, because he doesn't say yes to free pizza at that age, I was like, it just clicked. I was like, this is taking what I love about being a patient, learning about genetics, nerding out on all the science of it, but actually having a profession where you get to spend time with your patient. And it's not always just these quick 15-minute sessions, but you get to know them, you get to help them, you get to help them figure out what feels right for them. I think having lived in the rare disease world for so long, I very much understand there's no right answer to anything when it comes to life approaches. Like all my friends have made very different decisions. And so I always, as a friend, view that as my role too. How can I help my friends make the right decision for themselves? And that just fits so perfectly in genetic counseling that when I heard about it, I was like, I'm sold, I want to do it. How do I do this? And actually went for tea with the person who gave the talk. And so I don't, I don't view myself as separate. Like I think I I'm not a genetic counselor some days and a patient another. Like those are all who I am. I'm a family member, I am a friend, I am a genetic counselor, and I am a patient all at once. And I think that's a good thing. I think it gives you a different perspective on life. And I think that all of those have benefits, and we shouldn't put ourselves into our little boss bag boxes. All of our facets make us who we are.
SPEAKER_01:I think it's really a superpower. And I it's honestly one that took me a little bit to realize, because, you know, working in public health and working in patient education, I was always kind of worried with being a family member that people would see that as a bias that I have. And even though that is true to an extent, it's also a bias that lends strength to what I do. And it is part of who I am, and it's it informs everything in some of the best ways. So I'm glad you shared that. And, you know, I want to dial it back just a little bit since I am the only person here who is not a genetic counselor, and just have you explain what is direct-to-consumer testing.
SPEAKER_02:Yeah, so direct-to-consumer testing, or we always like to say DTC for short, because we love acronyms in medicine. It is any test that is not any genetic test in this case that is not being ordered by your provider. So you're not seeing your PCP or seeing a genetic counselor deciding as a unit what do you want to order, and then it's being ordered by a doctor who has seen you and met with you. So, this most common examples are like if you're in the target checkout line, you'll see a box for ancestry.com, you'll see a box for 23andMe. There's now even more that are popping up that you might see during the checkout line. It's that kind of a test where you pay it, you order it on yourself, nobody really consents you or tells you anything about it versus what's on the box. And then you get results back and you have to figure it out. They may offer tools for that, but the onus is on you. You paid for it, you interpret it with whatever quote unquote reports they give you or other options that some of them let you pay to go talk to someone. But you're not, you don't have to.
SPEAKER_01:Okay, that's really helpful. And I did, I had the opportunity of reading your Direct to Chaos blog, which we will post the link to. And you wrote that, you know, for many rare disease families, direct consumer testing leads to false negatives, false positives, false promises, and more questions than they started with. Is there a specific situation that comes to mind where you realize direct-to-consumer genetic testing was becoming a problem and that you needed to speak out about it?
SPEAKER_02:Yeah, I would say I'll remove condition names from it so it's de-identified. But honestly, this same story happened over and over and over and over again. And that's when I was like, all right, we gotta talk about this. This is not isolated. But usually how it goes is you have a person or a parent who has symptoms for their self or their child that they haven't been able to get answers on through the medical system, either because of long wait lists, just not being able to find answers, tests are coming back abnormal, but not abnormal enough, or inconclusive, or normal, and they're like, great, the doctor says, and you're like, not great, my I still have symptoms. And so people haven't been able to find answers through the traditional methods. And they see this kit or they see an advertisement targeted to them on social media like Facebook or TikTok that says the name of their condition, like epilepsy or EDS or MITO, which I have, we can test for that. We can find you an answer. And understandably, people are like, oh my gosh, that sounds great. And so they order the test, they get results. Often these results, part of why they're quote unquote so cheap or cheaper, is they just kind of data dump on you. Like when you order a three-year doctor, a lot of what you're paying for is the really good interpretation that's provided by very well trained people with very well-trained software, and it's it's a system in place with lots of checks and balances. It's cheaper at 23andMe, because they just kind of data dump on you and say, figure it out. And so you start with this promise of you can find me an answer that no one else has been able to. We're gonna look at quote unquote everything. And then what you get is literally often hundreds of pages of AI-generated paragraphs that sometimes don't even make sense if you read them. Repetitive things over and over where they'll talk about the same thing and give you totally contradicting information first page one versus page two. Or you end up with, they call them like data browsers, where you can just click on a gene and there's just this really complicated screen and you're supposed to filter through all of this data that they've pulled from other sites. And understandably, when you try to read through it, even as medical providers, it can sound really scary or it can sound really conclusive. Because it'll say you have this change in that gene, and that gene will match some of your symptoms. And so you're like, naturally, oh my gosh, I found my answer. Or wait, I didn't know I had to worry about this. This says cancer in red, high risk. I came here looking for my epilepsy. What do you mean I have a cancer thing? And then you go to the browser and it shows you a hundred cancer variants. And I think it's a very normal reaction to be very upset by that and to have a lot of anxiety. And like that's that's what anyone would feel. And then you're stuck being like, I walked in the door to look for answer A. I opened up boxes A through Z. All these boxes are scary. I don't know if any of these matter. And then that's where you're stuck. Still stuck in a medical system that's not getting you answers, now with a giant pile of more concerns and more questions, and maybe still no more access to people who can help you figure them out. And so a lot of people end up in a worse situation than they started. And that's it's really hard to watch that over and over again.
SPEAKER_00:Yeah.
SPEAKER_01:I believe we have a word for that in, you know, classic Greek mythology called Pandora's box. Seems like that might be an apt comparison.
SPEAKER_00:Yeah, I was thinking about just to expand a little bit on the data dump piece here and to make some distinctions with the different kinds of kind of what we think about as direct consumer testing. I think there are, you know, we're talking broadly about genetic tests, but under the umbrella of genetic testing, you have testing that is looking for health-related conditions, and then you've got testing that's looking for that's giving you information about ancestry. You've got testing that's like broadly under this category of wellness that might not really meet the, you know, threshold of being looking at health-related um conditions. You've got just genetic testing that might be marketed as being entertainment, like your this genetic is going to tell you what kind of wine you're most likely to like, or, you know, I don't know, all kinds of, I think, kind of silly things. But all of these things fall under this direct consumer genetic testing. FDA has only approved 23ME to market a genetic test directly to consumers for health-related conditions. But that even gets a little bit tricky because what FDA has really approved are these very specific health reports. But 23ME will provide your raw data. And I think that's kind of the data dump, Devin, that you're referring to, because you can take that raw data and you can then dump that into any of these other third-party tools, these browsers that are going to give you all this other information. And that data hasn't been validated. I think that we can see, I mean, there's multiple layers where this can go wrong. Like it can go wrong at the actual sequence data that you get in the first place. But it can also, you can see inaccuracies in the way that data is interpreted. So it's hard to know sometimes like if there's a false positive. Is it from the actual DNA sequencing or is it from the interpretation tool that looked at that sequence data? And none of that is regulated at all, really. And I think, you know, another aspect, because we certainly see tests that are marketing health-related genetic testing beyond 23ME, and that all falls under this other category of what we often refer to as physician-mediated, patient-initiated testing, where it looks the same to the consumer. Like you're going on Amazon.com and ordering a test kit or you know, through your TikTok or Instagram ordering a genetic test kit, and you don't necessarily see that there is a physician signing an order for that test kit, a provider that is never going to have any interest or provide any care to you, but for a fee is signing off a test order to kind of exploit this regulatory loophole. And, you know, we've seen everything from genetic testing, like I mentioned, to predict what kind of wine you'd like or what kind of weed is going to be your best, you know, fit or whatever.
SPEAKER_02:My my favorite horror example is there is a test for infidelity. Yes. A direct-to-consumer test your partner and find out if they're likely to cheat on you. That's my favorite horror example, because it like it's easy to laugh about it and be like, well, everyone knows that's BS, but it's being sold. And so my guess is someone is believing it and not just buying this as a gag gift. Yeah. But again, why would they not believe it? It's genetics. Genetics sounds really scientific and definitive. Genetics is we put it on a pedestal, I think. And so people are like, well, it must be real. It's genetics. Like, I wish it worked that way.
SPEAKER_00:It's it's interesting, like, because you're totally right. I think people think genetics is like some kind of truth, but also it's being marketed as this fun holiday gift. And yeah, it's hard to reconcile that.
SPEAKER_01:I do think it's really seen as an exact science by a lot of people, in that, you know, once you get the results, that's definitive. And it really takes a lot of public education to counter that idea, but at the same time, there are these companies marketing it as truth. So the ability to even counter that narrative is almost impossible.
SPEAKER_02:And I think the the really tricky thing is again, like you said, how they market it. Because the reality is if you go to one of these one of these other testing sites, DTC, and you look on their website, it looks official, has the can't same kind of graphics as the legitimate medical testing orgs. They often talk about the wonderful education that their founders and their team all have. They're all like, look at all our fancy degrees. They often have at the bottom that they're CLIA and CAP certified, which I it's the real, real short version. I explain to patients, really just means they're not going to switch your samples in the lab. It really doesn't tell me that they're doing a good job interpreting your data. Like it's not, people think of that as like, it's that means it's all real. I'm like, it's a step in the right direction, but it's really not telling me anything about the report they're giving you. And then they'll often have all of these papers talking about it, or they'll have a blog where they get in, they cite all of these important sources. That doesn't read always as different as like a legitimate medical testing lab like Gene DX or Invitae or Ambry or Myriad. What I know to look for are things like a can you order it on yourself? Right? That's a this is definitely DTC because you can hit buy. Other things I look at is honestly, sometimes they oversell themselves, right? Like a lot of these, a lot of real medical grade testing will have a test menu where there are lots and lots of tests that are being offered. Each one has to be ordered individually. Each one you have to send in a new sample for. They're all separate tests with separate prices. That to me is a green flag of like this is a more legitimate lab. If you look at these DTC websites, often it's a buy now. You can quote unquote add on to your package. They typically have like you buy a base package and then you can add on for like 20 bucks different reports on different topics. That to me is all a sign of a scam. Because that's not how medical grade testing works. Now, Katie, you brought up a really interesting point. There are some labs that will say, like, ordered by a physician, if you're not meeting with that physician or that genetic counselor, that is not medical grade testing typically. There are some exceptions to the rule with sponsored testing programs where like a charity is working with a legitimate lab to help you order tests. Like there are some exceptions to the rule, but 99% of the time, that's a giant red flag if you're not going to meet with a provider beforehand. And all of those sponsored testing programs where like it is more patient initiated, they all are like, you will be meeting with a genetic counselor afterwards. And they're mostly providing you a test result that's not even from them always. It's like this is a medical grade test result, and it'll say on it, this is a medical grade test result. This is not research, etc. Direct-to-consumer tests, they always have some little barb on there that's like, this is just for fun. And that's their way of trying to get around regulation and getting sued. As they're like, well, we said it was for fun. I mean, yeah, it was about health things like cancer, but we said that was just fun. That's the other red flag. But it's hard. Doctors don't even know.
SPEAKER_00:Yeah, definitely look at the fine print. Those are great points to look at. I think it it is tricky. Well, it's tricky for, I mean, if you really get into the weeds of it for us, it's tricky to even define. Like, I mean, the same labs, the same technology, the same, sometimes the same people, sometimes the same labs are involved in a really legitimate operation, and then they might be selling the sequence data to a, you know, a more questionable operation. There's a lot of overlap in this space. And I mean, I I think I shared previously that just to kind of test out one of these direct consumer testing companies that was advertising genetic testing for children, which was troubling to me, I sent a cheap cheek swab for my dog. And this test, this lab actually issued a test report and I sent a follow-up test with just like uh ran the swab through my tap water, sent that in. And the lab sent test results that were signed out by a fellow of the American College of Medical Genetics, you know, board board certified medical geneticists. So there's it's it can be difficult because there is a lot of a lot that goes into making these tests legitimate. But I do think if you look at the fine print, you can you can often see some red flags. But probably the best way to identify some of those red flags would be to talk to somebody who's doing this every day, like you, Devin. You know, meet with the genetic counselor that can help or like guide you.
SPEAKER_02:Whenever patients call and they're like, I don't know which DTC to order, I want to meet with you first. I'm like, you are my favorite person. You get a gold star. I love you. Let's do this. Because for most people, the false promises are so good that they don't even pause to go, why wouldn't I want to do this? And then they get the result, and then they have the spiral, and then they're reaching out, but it takes time to find a good provider or to get in with a local provider. And so then that usually means that they've spent weeks or months in a very not great place where they don't know how to interpret their results, they don't know what to tell their doctor, their doctor doesn't know how to interpret results. I've seen doctors put in medical charts just wrong information, either because they didn't know how to read the DTC, they didn't realize the DTC wasn't accurate, or because it's a giant game of telephone, because there isn't a genetics provider ordering it. And so the patient's like, I think this is what it said, and the doctor's like, I think this is what you said. And then what's in the chart is like not even close. And it's really hard to get stuff taken out of a chart. It's a lot of effort. And so that can follow patients for the rest of their lives in detrimental ways. I tell a lot of patients, especially for conditions where genetic testing is not terribly helpful. So, not to pick on hypermobile EDS, but I specialize in that. I see a lot of patients with that. We don't have genes for it yet. These companies will tell you that they have genes for this and that they can test for it. That's just a lie. We don't have these yet. A negative result can do harm because for someone who doesn't understand that we haven't found the genes for hypermobile EDS yet, their doctor sees you had negative genetic testing, and they interpret that as you don't have this. And so it can actually be really, really harmful to even have a normal quote unquote result in your chart for something. Because again, we put genetics on a pedestal. They're like, cool, you're good, let's move on. And we miss that, you know, you do have this. And that's scarier for the cancer stuff that you've encountered, Katie. I know.
SPEAKER_00:Yeah, I I think the hypermobile EDS is a really great example. And that's another one where if you really dig into the fine print from some of these companies that are claiming to test for it, and they are directly marketing and advertising to this community, which is, I think, really, really predatory and problematic. Devin, I wonder when you were saying for the patients that come to you and say, I want advice on which test I should take. Could you walk us through a little bit about like what that visit would look like when you meet with somebody who comes to you with those types of questions?
SPEAKER_02:Yeah. So personally, whenever I start a giant counseling appointment, we all do things a little differently. I like to start with a quick family and medical history because I say people, I want to ground our conversation in something. When we're talking about what are your motivations in doing this testing, I want to know, are you meeting clinical criteria to begin with? Right. Like if you come in and I'm like, yeah, I would give you whole exome because you have an intellectual disability and that's what's indicated for it. Sometimes the DTC ends up hitting the back burner because they're like, oh, you would order the test that I want. Perfect. Let's do that. And it ends up not even being something to talk about. But other times we take that family history, we talk about their medical history, and we talk about what are your top questions. And a lot of these questions that people have are either about conditions that we haven't found the genes for. And so I have to be blunt and be like, God, I wish we had that answer. It doesn't exist yet. It's not that we're not giving it to you, it's not that I don't want to give it to you. It's that science hasn't figured this out yet. A lot of times people want answers about things that are, we use the fancy term, multifactorial. Genes and environmental playing a role together. I like to use diabetes as an example of that. We all know that type 2 diabetes can run in families. We all know that it has a genetic component just by looking at people we know. Like that's most people like, yeah, I gathered that. We don't have a genetic test for type 2 diabetes because there doesn't appear to be one gene causing it for most people. It's a whole combo of normal environment variants and environmental factors. And so sometimes a lot of people come in and that's what they're looking for is hey, a lot of my family has had autoimmune conditions. A lot of my family has had diabetes, high blood pressure, ADHD, neurodiversity of other forms. So I know it must be genetic. Half my family has it. So I want to test for this. And I have to be like, yes, we know it's genetic, but we can say something is genetic in the sense of it has a genetic component, and then we can say it's genetic in the sense of there's actually a test I can run on you to get you a result that says you're high or low risk for this. Those get confused a lot. And I think we confuse them because we use the same word for both. And so often, if that's what's coming up, I'm having that conversation of like here's how we use this word in a confusing way, and here's what actually we can offer. And sometimes people are looking for what you call like wellness, like proactive testing. And I talk about the fact that there are some really cool studies coming out about how see these normal variants that like one to ten percent of the population has can influence how your body processes food or exercise or other things that some people find fun. And they're like, well, if I'm gonna try a diet, might as well see what diet might be slightly more likely to work for me. And for some people, that is their motivation. And I'm like, yeah, again, there's not really a medical grade test for that because there's not enough science behind it for us to justify spending your money because there's not enough medical background to say, I'm gonna use your report to change your management. And often after that conversation, people have a different feeling than when they walked in the door. And I think having that, like, I know what we're talking about and what you're concerned about before I say the next part helps it be a productive conversation and helps really get at what are your motivations, not what's my motivation. My goal in an appointment is not I don't have a to-do list, I need to just explain to you why this is bad. My goal is what are your goals and how can I help those? And that is a huge difference of talking to someone versus spitting in a tube. The tube doesn't care what your goals are. Well, they do from a final Financial standpoint, they care about preying on those goals. But there's a reason why their ads are targeted for conditions that do not have genetic testing. Because they know those are people who have literally no other option. That's on purpose. There's no way that it isn't. And desperate for answers.
SPEAKER_00:Yeah, you're right.
SPEAKER_02:And same with testing kids. They're like every parent cares about their baby. Do you care about your baby? Spend a thousand dollars today. That is on purpose.
SPEAKER_01:I was gonna bring that one up too, because I remember reading that in your blog and just, you know, the imagery of the children in the advertising and also that messaging. Because especially new parents are just so anxious to do everything they can for their new baby. I mean, I remember that when Andy was born with Down syndrome and just being like, oh, we've got to figure out all of the services that he's gonna need to thrive. And I think that's what these parents are thinking and not realizing that, like you said, it's opening up that Pandora's box that likely won't give them any answers.
SPEAKER_02:Well, and it's it's giving you false reassurance and it's giving you false freaking out, right? Like, what's the motivation? I want to help my kid live the healthiest life that they can. That's usually what people say. Okay, well, is it healthy to maybe avoid certain foods or do certain things that maybe have no actual reason to do so? Is it healthy to think this kid won't get cancer when we didn't actually do a test that really touched on it and most cancer isn't actually genetic, where we can find one gene for it? Like, it's not just it's very valid. I validate every patient who buys it. They're doing it for very valid, valid reasons. But the test isn't helpful. And so it's just mean. It's just mean to these parents. Like, don't do that to the poor mom who has a newborn and isn't sleeping through the night. Like, don't be a jerk to her. Let her go to bed. Don't give her something to Google at 2 a.m. That's not helpful.
SPEAKER_01:Well, and I think in that uh in that vein, you know, what do you think needs to change in the regulation or oversight of genetic testing in order to protect these families from misleading or harmful tests?
SPEAKER_02:I I would love everything to change. I mean, even medical grade testing, we don't have a lot of FDA oversight. We don't have really any FDA oversight, depending on how you define that. There isn't, like we have CLIA and CLAPS CAP certification, and people are like, ooh, it's the box we checked. We don't have a box for like, and you've checked that the variant you're reporting out actually is in the patient through multiple methods. We don't have a box for how well did you cover every part of a gene? Because I always say genet testing is like running spell check on a book. Some pages are really hard to read. They're stuck together with glue. It's really hard to look at it. We don't have a box to check for like, did you actually look at everything you said that you were looking at? We don't have a box for how qualified are the people reading it. We don't have a box for what type of technology you use to kind of go through the data before you put it in front of a human. We don't have a box for even how we define different things. Like when a lab says I do whole genome sequencing, we have our definition of it, but it's not a standardized thing that if you say you're doing it when you don't, we can go after you and say, hey, you lied. That's not this. A lot of what they offer is not what's on the label. Again, the most basic definition, whole genome sequencing, is supposed to be reading every letter in your whole genome, all of your genetic material. Most of these labs, like 23 and me, they're giving, they're approved to look at like 12 variants in this one gene. Like, yeah, maybe they have a lot of data on the back end, but all they're giving you is 12 variants. That's not sequencing. That's what we call genotyping. It's a list of a couple of things. When you do these other websites that do whole genome sequencing, they give you reports. What is that report? It's just genotyping. It's like, oh, we looked at a hundred variants. You had or did not have these, we think. There you go. That's not even the same thing. And they're like, but it's all in the browser. Okay, well, what help is that if you don't have a medical degree? You know, and so it would be great if we just started with that. Like you have to be telling the truth in what you call your test, or you have to tell people, we didn't, there is no gene for this. Like the bar is low. So low.
SPEAKER_00:Yeah, I know you've taken action in reporting bad acting genetic testing companies, reporting the FDA, but also FTC in terms of just how they're advertising, you know, getting people who are affiliated with these labs removed from reputable lists. Do you have any recommendations of what you think people should take, your colleagues or patients?
SPEAKER_02:Yeah, I'm a big believer in what I call being shouty. If you see something, say something. I maybe listen to Dare too much as a child in elementary school, right? Like I listened to the TSA. It's true though. Like you have more avenues than you know of. So for example, someone who had one of these companies had himself listed in a genetic counseling listserv. He's had himself listed as I am a genetic counselor that offers genetic counseling. And then he licked to list it, then he linked to buy our kit online. I emailed the list. I was like, hey, this guy isn't a provider. He's not providing clinical services. He's definitely not a genetic counselor. Why is he on your list? And they took him down. There's a local person that has created one of those websites that takes the raw data and generates reports for you, which is again very dangerous because we don't know the quality of the data or that interpretation at that point. And it was a dude in his basement 20 minutes from my house. Um, and that hit home. I was like, I could drive to this person. It was a PO box, but I was like, he's my neighbor. And I was like, wait, he's my neighbor. He is offering a medical grade test that he taught himself how to design, quote unquote, in his basement. And again, I'm not gonna fault anyone for being a genetics nerd and teaching themselves genetics in their basement. Again, good for you. When you turn it into a product, I have problems. And I was like, let me just dig who is this person? And we dug into it and we figured out like he didn't have an active business license. Like he was selling a product when for the state of Washington, this company didn't exist anymore. So we reached out to them and I didn't even know what they could or couldn't do. But curiosity emails are worth a shot. So we emailed them, hey, is this something that's okay? I assume that someone shouldn't be selling a product without a business license in the state of Washington. Am I right? And they reached out to him and confirmed that he probably shouldn't be doing this anymore. And he did stop selling it at least for a bit. Turns out the laws are way more complicated than I realized. So what he was doing wasn't technically illegal, but I learned where the boundaries are, and he was notified that people are watching what he's doing. And I think that had a benefit in of itself. But the FDA also, like Katie, you've filled this out too, and I've told my patients too. The FDA can be confusing. Full disclosure, I technically work for them. I just haven't heard from them since last year. But I do technically work for them. With their reporting, it falls under like side effects or adverse events, which is, I think, really hard because people are like, I didn't have an adverse effect. I didn't have a seizure after doing this test. I didn't have a heart attack. But that is how they have you report things like this. And I think it sounds scary because they use big terms like adverse event and they have a really long form to fill out. But what they told us when KDU talked to them, right, was just fill out whatever you've got. Like just good faith effort. If half of the sections don't apply, that's fine. If you can only fill out two boxes, do it. Because at least it generates a report. And so they can start to get a tally of, hey, we have problems. And it can help us convince them to start regulating it, but it also can lead to situations like 23andMe, where they got enough complaints 15 years ago now that they shut them down for a time period and was like, hold on, we have a problem. That's how they became regulated. They were a problem.
SPEAKER_00:Yeah. And I think it takes many voices, unfortunately. It's like you can see something that's not right. And it's, I think don't wait for somebody else to speak up about it. I think it it takes to all of us to raise concerns on these issues, those of us working in the field and those of us being affected as patients as well.
SPEAKER_02:Again, just don't sell yourself short. Your story matters. It doesn't matter if it's a small thing like, and I freaked out for two hours on Google. Cool. Send it in. Don't sell yourself short.
SPEAKER_00:Yeah. Devin, this wasn't on our list of pre-kind of pre-planned questions, but it's come up in my mind since we've been talking about it. And I think it could be helpful for people to understand. And I think you could explain this well for audience. So I see some of these companies they're advertising whole genome sequencing, which you just described, that it's oftentimes not what these companies are actually delivering. They're delivering genotyping, but let's say a company can provide some whole genome sequencing through a direct consumer route. What's different from just signing up online to say I want my whole genome sequence versus doing whole genome sequencing in a clinical setting? Like, what's the end result that's different in that?
SPEAKER_02:Yeah, so let's even just take their ordering from the same, like let's say it's the same lab, but one is like your doctor ordered it, and one is like you ordered it. But let's like assume like the test is run the same way. There are differences. The first one is with like whole exome or whole genome, which are two of these, try to look at everything tests. We have a lot of data that it generates. Part of the huge part of what you're paying for is the interpretation. And part of that interpretation is knowing why are we doing this test? So, for example, if I have only hearing loss and I do hold genome, and I tell the lab I am deaf, they're gonna sort through all your data. Often there's some things they test everyone for, but for most of the data, they're going, okay, you have hearing loss. Let's look at all the genes associated with that. So if I tell them I have hearing loss and epilepsy, we look at the hearing loss box and the epilepsy box. Nobody is actually giving you every single piece of data of every single gene that you have, because A, we don't even know what half the genes do. B, even in the genes we do know, we don't know what half the variants do. Like genes are written in letters like a book. We all have millions of spelling changes that make us not clones of one another, but don't cause major problems. And even in genes that sound scary, like BRCA, breast and ovarian cancer genes, I have seen DTC reports that are like, you have a BRCA variant, and I look it up, and it's in 95% of people. Like, yeah, it's a change in a gene. We know that when that gene doesn't work, it causes problems. But we don't think that change disrupts the gene and leads to the problems. And so part of that interpretation, even from a really good lab who knows, like, let's say they even know your symptoms, we find a lot of variants of uncertain significance. We find a lot of variants that are in a gene that might match some of your symptoms, but not all of them. The clinician can make sure the lab knows the right info about you, but they can also take the result, A, see if they even agree with the lab. People have opinions on stuff. I've disagreed with a lab. I've gone, I know you don't think it's the problem, but I think it fits. And this is why, because I have more info than they do. I have your blood work, your MRIs, et cetera. But also sometimes it's a question mark. And if you're working with a provider, they can sometimes help you figure out what way are we leaning? What other tests could be helpful to clarify this? Or to be honest with you, that we don't know that this is your answer. This might not be your answer. Please don't assume we found your answer and stop looking for them, which is the other trap of a false positive that you go, oh, this was my answer. And you give up the diagnostic odyssey, and maybe you miss another thing that has a treatment or that has a different inheritance pattern, so it has a different impact on your family. And you totally miss the boat because you got off on the island that you thought was the right island and it wasn't, because you don't have that other person looking at everything with a critical eye. Just this week, I got a lab report back from a good lab that left off something. And I was like, Can you comment on that gene that I asked you to look at? And they went, actually, they do a variance in that gene. That was a good lab. That was a medical grade lab. Nothing is perfect. But I was there to follow up and ask the questions and talk to their medical directors and figure it out. And I've argued with labs before about interpretation and helped them redo stuff and I've checked what's in the literature. Like you have to have that knowledge to take any of the next steps. And I'm not saying that doctors don't have that. Well, I'm gonna be blunt. When I was in grad school for genet counseling, we worked with the med students. We went to their lectures, they had one semester of genetics in their entire medical education. That was it. They're not required to do a genetics rotation. And that was for some people 60 years ago, right? Like it's not their fault that most medical providers don't know what to do either with these results. That's valid. They have to know a lot. I have to know a lot about a little. And so seeing that person that knows a lot about a little is really helpful in these situations because it is always changing. Even if you knew a lot about genetics five years ago and you step out, you step back in, you're lost. And that's no one's fault. That's not that you have a bad doctor. It's not that you're clueless or you're stupid for not understanding. Like it's that's what people tell themselves. It's confusing. It's complicated. There aren't simple answers in genetics, usually.
SPEAKER_00:Yeah, that expertise of being in it regularly and having that context is so is makes all the difference when you're trying to filter, you know, many thousands of variants to try to make sense of it for a family.
SPEAKER_02:And a lot of people ask me, can I then filter their variants? And I'm like, again, it would take a week to go through all the raw data. And that's part of how you know these labs aren't doing it. They don't have human eyes on it. Even with human eyes, it takes a lot to actually look through that raw data. And I'm gonna be honest, even in their raw data portals, it's still only genotyping. They are not actually giving you all of it. They're not giving you letter by letter, even in their portals. It's still a lie. They're pulling from databases like ClinVar. So they are still only pulling variants that have been previously reported in other places, either normal variation or a lab with saying, I saw this in a patient, they're still not going to tell you about changes that you have that are unique to you and your family, which we know in genetics explains a lot of stuff. So if I had done whole genome sequencing, I would not have found my answer on these websites, even if I had looked at the correct gene, because my gene hadn't been described yet. And so even then, it's still a lie. And one thing I always like to say when I talk about this, because I think this is the biggest trap people fall into, sometimes the better the test, the better quality, the less info they give you. And I think that is one of the main hangups for people who are understandably actively desperately searching for answers. When your doctor orders a panel, the lab will just tell you everything that they saw that could be a problem on those hundred genes. So they might tell you about five variants and then they want your doctor to go, okay, but none of those fit you. If you order exome or genome through a doctor's office, sometimes they'll give you nothing back. They won't tell you about those five variants from the panel because they looked at those and said, those don't fit your symptoms, or you need two changes in that gene before it's a problem, and you only had one, so it's not causing your symptoms. And so people will do a panel and be like, ooh, I maybe found something. And then they do the better test and it shows less and they feel like it's a beta switch. And then they do DTC and it gives them all of the data. And they're like, so this must be a better test. And I get why it feels that way. But they're giving it all to you because they're doing less work. The more work they do, the less they'll give you because they're not putting the burden on you to figure it out. But that's the trap I see most people fall for. Even after I talk to them, some people go do DCC and then they come back a year later and they're like, I fell for the trap. But are you sure it's not here? Because they gave me so much. It has to be here. Everything is here. And that's a really hard thing to undo and to say to help people understand it's probably not. Especially because sometimes they get the easy stuff right. Like they'll report that you're a carrier of CF. Well, one in 25 people are. That's a really easy thing to design a program around. We have lots of data on that. But for the things that you're actually looking for, like the rare type of muscular dystrophy, I really don't trust their algorithms because they don't have anything good to train it on, and it's there's no oversight. And so it's really dangerous because then you start chasing every single thing that pops up. And I'm not gonna blame you for it. Even doctors fall for that trap. They're like, well, the patient has 10 pages of problems, so this is probably their answer. It's just those 10 pages aren't real. Or 99.99% not real, and maybe 0.001% something that matters, and how the heck do you find it?
SPEAKER_01:Devin, I know you're a big reader, and it almost kind of makes me think of the difference between somebody being given, like to sent to the library and saying, your answer's in here somewhere, and you know, good luck trying to find it as a and and they've got a really important question or research project they're doing, or having someone come to you and say, I know exactly what your question is, and I am going to give you the exact book, the exact page, and explain how that answers your question. I don't know, is that a fair metaphor?
SPEAKER_02:I love it. Oh my God, I love it so much. So DTC is you pay to access the library, and then they say, Good luck. By the way, not all of these books have been looked at by an editor. Some of these might be people's personal journals, but maybe it'll be helpful. Doing whole genome with a doctor is like you go to the nice library, everything has been reviewed by an editor, and you have a librarian walking you around and trying to help you figure it out. And things like these reports that they generate out of those libraries, that's like reading the Wikipedia on a book and having them say, Well, I read the one paragraph summary on Wikipedia, so I know what's in this book, and so I can help you out. It's somebody who's walking around the library reading the back of every cover and then being like, I'm an expert. Well, let me tell you what nutrition you should do. That's how I take that metaphor. I love it so much.
SPEAKER_01:Cool. I have to use the metaphors because again, English major in the room. That's a good one now. Yeah. I think too the other question I had, and I know we we probably need to wrap up soon, but just I think part of the challenge is that we really do have genetic health deserts in the US where you know people might not have a genetic counselor in their whole state, you know, and I think that's where we also need to figure out how to meet people's needs, where you know, they might think, well, this is the only thing I can get where I live. So I think what I would like to hear from you on that note is how to, you know, your vision for expanding that, those reliable resources who can be those librarians, and also, you know, your message of hope moving forward.
SPEAKER_02:This is my GSFY. This is why I came here, expanding access. Because so many rare disease patients live in places like Alaska. Like there's not a lot of genetics help up there. And again, it's not their fault they live in Alaska. It's not the doctors in Alaska's fault, right? Like this is just the world that we're stuck living in. I it's why I work here. I think people have more access than they realize. Most people have no idea that findogeneticcounselor.org is a website where you can put in your state and your specialty, like what you're looking for, like cardio, and it always pops up something. Like I have not had a combination that hasn't brought up something. Now, insurance costs, like there's still lots of boundaries that get in the way or barriers. But I think people don't realize how many options they have. I think doctors don't always realize how many partners they have. Like when we order in states like Alaska, I get to know a lot of the pediatricians up there really well. And we form a partnership for this patient. They tell me their experience with the physical exam of the patient. I bring in the genetics. We work together to try to find an answer. And when we do find an answer, it's one of the best feelings in the world, I would say. And I think people just don't realize what they do even have as options. So many people I see who are in their 40s who were diagnosed with like epilepsy as a child or an intellectual disability. Well, yeah, back then we didn't have anything to offer. And people don't realize they can send them to us as adults and we can still find them their answers. And that honestly has been some of the most profound appointments I've ever had when someone finds an answer 40 years later. And technology is always improving. So there is always hope that if we don't find your answer now, we will later. Many doctors I talk to in different specialties, epilepsy, mito, muscular dystrophy, a lot of them quote, I mean, who knows how accurate it is, but there's a new gene every month associated with this condition. Like it's rapidly moving. There is lots of hope. And I think at the end of the day, there are more options than you realize, but also it's something you are paying for a relationship with your doctor. It's a service that you're subscribing to. And so if you're finding a provider that isn't willing to go try to help you figure out what genetics is nearby, or isn't willing to talk to their genetic counselor on the phone to try to help figure it out, it is valid to say, hey, maybe I try a different doctor. It is hard because there's a lot of bias towards doctor shopping and other things like that. It is hard because sometimes even after they make it to us, insurance is like, I'm not gonna cover that. Or, you know, this is thousands of dollars out of pocket. And so I'm never gonna say, like, if you find me, I can fix it. We're still working in a, to be honest, broken system. But I think there's more opportunities that people realize. I think there's value in just talking to a giant counselor. So you understand not just what are your options, but what are the pros and cons. Because half of people I talk to at least decide not to do testing after talking to me. That means I'm doing a good job. That's true informed consent when you agree or you decide for yourself this would or would not be helpful, or this isn't the right time in my life. This isn't going to give me a treatment, maybe. And so do I want to spend the money on this, or do I want to spend the money on traveling to see someone who specializes in my rare condition who might actually be able to guide treatment? Like that's a huge part of that conversation. But I mean, honestly, I think that's a lot of it. People don't realize they have access to talking to different people, or they fall for the problem of it's$200 to talk to a provider, or it's$200 to spit in a tube and get everything. And so they fall for the understandable trap of, well, it seems cheaper to do DTC, not realizing that to try to follow up on all of those variants, if you actually were to go order individual testing, can cost you thousands upon thousands of dollars. If we actually were to confirm every single thing that popped up, I could easily spend, I'm not joking,$100,000 chasing down every single variant that a DTC test flags. So you're not really saving money and you're maybe costing a lot more because then doctors like, do I need to give you mammograms? Do I have to give you echocardiograms? Do I have to put you through more medical treatment and sometimes medical trauma? Because medical treatments don't always go great for everybody, over something that was not even something there to begin with. But I do gonna sound weird. DTC does give me hope in some ways, because I think it is increasing people's understanding that genetics exists, because a lot of people miss that memo because they just remember high school biology class, which is valid, and they tried to block it out. It's increasing doctors' understanding that common conditions like seizures can have a genetic component, same with autism. A lot of doctors still haven't got that memo, and so it's forcing the conversation more, which gives me hope. It's also making patients advocate for themselves more. A lot of patients they're advocating either for access to testing or access or control of their own data. Like a lot of people like these tests because the labs claim that they protect your data or their data is only for you. Again, not saying I believe all of that or there's not a giant loopholes in it. Like 23 in me, their data was never for you. That was their business model. But I think it's creating more advocacy in our communities of rare disease patients. Patients are starting to go, I want genetics. I hear that they exist, send me to somebody. I'm not taking no as an answer. Patients are starting to go, yeah, I'm gonna go call that medical grade company because their website's real vague about privacy. And I'm gonna call them and say, hey, can I get you to delete my data? Who do you share my data with? It's making people ask really, really good questions. And that gives me a lot of hope. And genetic testing is moving so fast. Like 20 years ago, autism genetics wasn't like a giant thing that we were ordering big tests on. You know, 40 years ago, cancer genetics wasn't a real thing we were ordering big tests on. I don't know what the next one's gonna be, right? Like it's moving so fast, and it doesn't feel fast when you're sick or your kid is sick, and I fully acknowledge that. Being told, don't worry, in five or 10 years, we might be able to find you an answer doesn't feel great when you're in the ICU or you're in and out of the hospital or your kid is struggling and no one knows why. I fully acknowledge that. But we didn't think we'd have all the gene therapies we currently have, all of these custom treatments for ultra-rare conditions. It's astonishing, it's mind-blowing how far this has come. And the eight years I've been a GC, the 10 years I've been in the field, it's not long. It's night and day. And that is a lot of hope. And having people like Stephanie getting involved, like parent advocate groups, like being like, hey, we're not just gonna like support families, we're gonna make change. We are gonna jump in and help get legislation passed and help make people aware of all of these options. Like, that is so much hope. That is endless hope, in my opinion.
SPEAKER_00:I love, I love all of that. Thank you so much, Devin. It's always so informative and inspiring, I think, to hear from you and on your perspective and your experience in this area. And and I love that message of hope. I love all of the, you know, the idea that genetic testing is providing new information to families who need it, also helping to build community. I think that's a really hopeful thing too, and in helping patients advocate for themselves to get to a place where they can get the information they need. So thank you. Well, as we're wrapping up today, um, we'd like to just uh share a little advocacy call to action and um some exciting news this week. The Access to Genet Counselor Services Act, HR 6280, has been reintroduced to the U.S. House of Representatives. This is a bipartisan bill sponsored by Representative Adrian Smith of Nebraska and Representative Cathy Castor of Florida. This proposed law would allow the CMS, the U.S. Centers for Medicare and Medicaid Services, to recognize genetic counselors as providers who can receive reimbursement for Medicare, which is huge and really I think probably the number one most important thing to see increasing access to independent genetic services and to the sustainability of this field. Frankly, I think it's a pretty important issue to support. So we'll share some links on our website and our our show notes with things that you can do. But most importantly, now I think reaching out to your local representatives and asking them to support the bill is hugely important. And we want to give a shout out in gratitude. I think just something we see going good in the world, something we're thankful for. We are recording this on Wednesday, the day before Thanksgiving. And I guess I just want to give my gratitude to Devin and to Stephanie. It's so I feel so fortunate to work with such incredible people and advocates in this work that we do at GSF every day. And it makes my heart happy to be able to call you colleagues.
SPEAKER_01:And I of course feel the same about our entire team and the leadership that they provide in the world. But I also want to specifically call out those leaders in the disability community, specifically Alice Wong, given her her recent passing and also the passing of another dear friend who's been a leader in the disability community in Kentucky, Jason Jones, who we also lost this past month. These are people who help shape the world in some of the best ways and the laws that we have and the protections that we have and the social recognition of the value of people with disabilities in the world comes because of the work that they've done. And I'm grateful for the people who continue to do it all the time. And I'm also super excited and grateful too that we uh recent we got a grant found out about a grant this week from the Nisqually tribe in order to increase access to native populations here in where Genetic Support Foundation is located in Washington State. So that's super meaningful as well to make sure that we're giving people all of the advantages that they can have in improving their health.
SPEAKER_02:And I feel like a broken record. I'm thankful for the same things. Wow we really need to diversify our thankfulness. No, um I was going to say what I am feeling really fortunate of this week is authentic friendships and people who show up with their authentic imperfect self. Be that rapping on stage in a track suit Stephanie and just being yourself because I think it it just helps other people be their selves. And I've had some really good reconnections with friends from college in the last couple of weeks and stayed up way too late last night talking to one of them. But just having that authentic imperfect conversation of like I might not have thought everything out. I might be feeling a feeling that people might you know not be okay with or I might be judging myself like having meta emotions like feeling guilty about feeling guilty. And just having people be authentic. And I think that's why I love the disability community so much is a lot of people say that being disabled forces you to be your authentic self because it's in every aspect of your daily life. You can't like compartmentalize and like oh well I'm not disabled at this moment. It's who you are and you can be proud of that. I'm capital D disabled but I think why I love that community I'm so fortunate I found it early in my diagnostic process is authentic humans have such a value especially right now with everything going on in the world. Having humble humility like you know being able to admit that yeah maybe I said something wrong. Maybe I have learning I have to do in something maybe what I said last year I now feel differently today. That has just such immense value right now. And that's all we can ask I think to try to show up as our authentic selves and try to show up with kindness and take it from there, you know but I I'm very fortunate to be around people like you guys who are showing up authentically and doing the work hoping that it if enough of us do the work we'll all end up in a better place. And I think history shows that that does happen even if sometimes we have to eat chocolate along the right because it's a bumpy journey.
SPEAKER_00:And chocolate and puppies yes all of the above yeah absolutely need to have fellow travelers and chocolate too well thank you for this for listening to this uh coded podcast episode um please stay tuned share a podcast with friends subscribe share your comments and um we'll look forward to hearing seeing you next time thanks so much
