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
23andMe's Bankruptcy: What It Means for Your DNA Data
When 23andMe announced its bankruptcy filing in early 2024, it wasn't just the end of a once-promising business – it raised profound questions about the future of millions of Americans' genetic data and the direct-to-consumer testing industry itself.
In this deep dive, we're joined by genetic counselor Austin McKittrick to unpack what happened to this genetic testing giant that went from a $6 billion valuation to bankruptcy. We trace 23andMe's journey from its 2006 founding through its regulatory battles with the FDA and examine the complex privacy issues surrounding genetic data ownership when companies fail or change hands.
Austin shares his personal experience using 23andMe, offering an insider perspective on both the benefits and limitations of these tests. We discuss troubling scenarios where incomplete genetic testing can create a dangerous false sense of security, particularly with tests like the limited BRCA variant panel that misses the vast majority of clinically significant mutations.
The conversation explores the broader implications for consumers: How might life insurance companies access and use genetic information? What happens when scientific findings based on customer data are commercialized in potentially discriminatory ways? And most importantly, what guardrails should exist to protect people's genetic information?
Whether you're one of the 15 million people who've used 23andMe or you're simply curious about the privacy implications of our increasingly genetic future, this episode provides critical context for understanding how your most personal data might be used. Connect with a genetic counselor if you've taken a direct-to-consumer test and have questions about the completeness of your results or what they might mean for your health.
Genetic Support Foundation: https://geneticsupportfoundation.org/
Lettercase National Center for Prenatal and Postnatal Resources: https://www.lettercase.org/
Greetings and welcome to the podcast. I'm Katie Stoll, the Executive Director at Genetic Support Foundation.
Stephanie Meredith:And I'm Dr Stephanie Meredith, the Development Director of GSF and the Supervisor of our lettercase National Center for Prenatal and Postnatal Resources.
Katie Stoll:Okay. So today we had planned to talk about direct-to-consumer genetic testing in a more broad way, but with the recent announcement that 23andMe is filed for bankruptcy, we decided this might be a good time to reflect a bit on the history of this company, what this could mean for you in terms of your data, your health, and just thinking more specifically a little bit about 23andMe today. I'm excited to announce and introduce our guest today, Austin McKittrick. Austin is a genetic counselor and was one of the very first genetic counselors to work at Genetic Support Foundation. While Austin still works with GSF a little bit, he is now full-time working as a program manager for the Provincial Medical Genetics Program in British Columbia. Welcome to the podcast, Austin.
Austin McKittrick:Thanks, I'm so happy to be here. It's so good to see you guys.
Stephanie Meredith:Welcome Austin, and before we jump into the main topic, we just want to give a quick reminder to register for the DNA Dash. It's our virtual 5K, taking place on May 31st. This is going to be a fun event and your participation will help us support the work we do at GSF, which is providing genetic counseling resources and support to individuals and families navigating different genetic conditions. This event is completely virtual, so you can complete your 5k anytime anywhere on May 31st. Personally, I'm getting together a group of friends to run the river, run slash walk the river trail in our town and once you register, you'll receive a package with GSF swag, including a DNA dash headband that you can wear with your friends and all be matchy when you're on the trail. And we have an adorable sticker designed by the talented Vivian Peterson that you can put on your water bottle or whatever you think would be fun on the trail. And we have an adorable sticker designed by the talented Vivian Peterson that you can put on your water bottle or whatever you think would be fun.
Katie Stoll:Yeah, I hope everyone will join us for our virtual 5k. All right, so on to 23andMe. I thought it'd be helpful just to give a little background and history around this company. I think, no matter how you feel about 23andMe, I think we all agree that this company has made quite an impact on our culture. It's been a pretty big company and big in the news for now almost 20 years.
Katie Stoll:So 23andMe was founded in 2006 and they began offering their direct-to-consumer genetic testing in 2007. There was a lot of interest, a lot of hype around this testing, with spit parties that were attended by notable celebrities. In 2008, time magazine named the 23andMe test as the invention of the year. So a lot of excitement and, right out of the gates, this 23andMe started offering this direct to consumer test, not only for ancestry, but also for a variety of traits and also health predispositions, including some things that we typically would really not be considering testing for in a clinical setting or being very cautious about, like predisposition to Alzheimer's or Parkinson's disease. There were other direct-to-consumer genetic testing companies that were springing up around that time and in 2010, the FDA sent a letter of warning, or maybe information, to these companies to say that they wanted to raise awareness that the FDA had some regulatory authority here and that before marketing direct-to-consumer genetic tests for health indications, fda needed to review and approve these tests as being safe and effective. That did not stop 23andMe from continuing to market and sell their tests, in fact, kind of ramping up their sales. In 2013, they started a campaign with television commercials, advertisements, and late in 2013, the FDA then sent a much stronger worded letter really ordering 23andMe to discontinue selling their tests. 23andme shortly thereafter announced that they would comply with that order and started working with the FDA to gain approval. They were first approved in 2015 through a 510k application for carrier screening tests, specifically for Bloom syndrome, but then this was used to kind of pave the way for a broader carrier screening test. 2017, fda approved a de novo application for testing for susceptibility to other health conditions Parkinson's, alzheimer's. In 2018, fda approved this at-home testing for specific mutations in the BRCA1 and BRCA2 genes, specifically these three founder mutations that are most common in people of Ashkenazi Jewish background, and later that year they also were approved for a pharmacogenomics testing.
Katie Stoll:I think it's notable that 23andMe is actually still the only company that's received marketing authorization by FDA for direct consumer testing. So all other direct consumer testing that you see out there either does not fall under the regulatory authority of FDA. For example, fda does not regulate genetic testing for ancestry and they don't require authorization for genetic testing that's considered to be focused on wellness. Like FDA uses an example of athletic talent as being something that they wouldn't be really looking at, but anything related to health concerns is something that FDA looks at as their regulatory authority for direct-to-consumer tests. This does not mean that 23andMe is the only test that's being marketed direct-to-consumer tests. This does not mean that 23andMe is the only test that's being marketed direct-to-consumer. There's a whole other loophole, which I hope we'll talk about more on an upcoming podcast, about these physician-mediated patient initiated tests, which are basically tests that are sold as direct-to-consumer but there's a physician signing off on these orders as a laboratory test. But really, 23andme is unique in that these are tests that there's no physician order. They are specifically approved to sell this test direct to consumer for health-related indications.
Katie Stoll:From the business standpoint, I don't know that 23andMe has ever been profitable. They went public in 2021. So we've been able to see financial data for the last few years and they initially were valued at around $6 billion. But over the past few years have really plummeted to less than 50 million and just this last week announced that they were filing for bankruptcy. I think that a lot of challenges that they had over just recent years.
Katie Stoll:In 2023, there was a big news story when about half of their customers were impacted by a security breach that a number of customer data showed up on a hacker website. It seemed particularly to be targeting individuals with Ashkenazi, jewish and Chinese ancestry, so I think that a lot of concerns about privacy and data and how data was being protected by this company came up. I think that was a difficult story to recover from. But also, I think genetic testing is just a hard business to make money, and we're seeing that in the clinical space, too, a lot of labs providing genetic testing. It's just it's a hard business to make money and we've seen that in the clinical space, too, a lot of labs providing genetic testing tend to lose a lot of money. And I don't think 23andMe is unique in that it's especially with this model of it's kind of like you buy the one test kit and you get all of these reports and it's not like something that has people coming back. I think they've looked at different ways to try to bring customers back for additional services that might bring some revenue in, but I don't think that's been very successful, unfortunately.
Katie Stoll:So part of the reason, austin, I wanted to check in with you about this today is I know we've talked about 23andMe before. I know I've been somebody who's been pretty skeptical and concerned about privacy and kind of where my information would go, and I know you've been pretty open about your having done 23andMe. So I thought you could offer a good counterpoint and some good different perspective to what people might be thinking. Obviously, 23andme has been a super popular test with like 15 million customers, and I know that you probably hear in clinic all the time, as I do, when you ask patients about their ancestry.
Katie Stoll:I feel like either people say I haven't done that test yet or they say I'm 15% Italian, I'm 24% Irish. You know people get very specific in these percentages to let you know that they've done some kind of direct consumer ancestry testing. So obviously very popular and you're in good company with others who have done this testing. So obviously very popular and you're in good company with others who have done this testing. But I'd love to just hear from you about your thoughts about 23andMe. What motivated you to do the testing? What were you hoping to learn from it?
Austin McKittrick:Yeah. So I think what motivated me to do it initially was, you know, I was working at GSF and we had kind of been talking a lot about these different direct-to-consumer tests. It was kind of a lot of these issues were sort of going on around the time. And you know, I think it was kind of this black box of like we knew everything that was public facing but we didn't really know, kind of like what was behind the curtain. So I was curious on my own and I figured, you know it would be something that we would kind of be able to get a little bit of insider knowledge if we, you know, were able to just kind of see what the platform looked like and what kind of reports they're actually issuing. And you know, I was curious too.
Austin McKittrick:I've never really done anything like that before and you know I was in a unique position where, you know, I don't have kids. I don't have, you know, really close relatives that I'm concerned about. I'm not planning to become a serial killer anytime soon, so I'm not super worried about getting tracked down in that way. So and I, you know, I think I didn't really learn anything new. You know there was a lot of the oh, you've got sticky earwax and you're good at math and you know all that stuff that you're kind of like. Okay, that's interesting.
Austin McKittrick:I kind of knew that already there was some stuff. Like I did find out I had like a MUTYH mutation, the common variant, which is, you know, it's super common. I knew I had it already because I took a different test information that they give you when you do that type of test and just being able to look at it from more of a critical lens and you know, see that, yeah, they do have technically a lot of the caveats and a lot of the disclaimers there, but they're buried in so much information and a lot of times they're worded so confusingly in a way that it's kind of it does make it really difficult to it makes me hesitant to think that people are really reading through all of that and really understanding what it means before they do the test. I read through it all as a genetic counselor and I still didn't understand part of it.
Stephanie Meredith:So so I think my question is you know, because you pointed out some of the reasons you were not so concerned about the data and privacy what are some concerns that people do have, aside from serial killers, who have obvious reasons?
Austin McKittrick:I think that it really kind of depends on your personal preferences, right. Some people are really private and really like to just keep things really close to the vest. Like I kind of looked at it as you know, what will people be able to get from this, right? So I've kind of tried to play it out in my mind a few times of like okay, let's say, like an insurance company gets a hold of this somehow and they're using it in a way that's, you know, impacting how I'm getting care in some way. You know, I guess if we're, in my mind, if we're to a point as a society where insurances are able to just kind of get that information under the cuff and kind of illegally use that in a way that's going to impact your care, in my mind, if we're to that point, then there's a whole lot of other stuff happening that's probably of much greater concern.
Austin McKittrick:If that's allowed to happen, and considering so many people have done it at this point, you know, I think to have an organized way to use that data against people, it'd be really hard to. You'd be upsetting a lot of people. I feel like there'd be a lot of pushback. So I don't think it's impossible. I just feel like that, given where we're at right now, I just I find myself personally not really finding many scenarios where I could see where it would really come back to haunt me. I'm sure there's things I'm not considering, but I mean just kind of the things that I've sort of thought through that I know other people are apprehensive about. I'm like I'm not really worried about that. Maybe I should be, but I'm not Sure, sure.
Stephanie Meredith:So, like I mean, and then especially with the filing of bankruptcy, and since you know you don't necessarily have these, these concerns, what are some rumblings you've heard from other people about their concerns and some of those guardrails you were talking about possibly putting in place. What do you think would be helpful there to address those concerns?
Austin McKittrick:yeah.
Austin McKittrick:So I think that you know I think some people are concerned about you know, your, your insurance companies or life insurance companies getting a hold of that information and being able to either deny care or raise rates, that kind kind of stuff. There are certain protections for that with just kind of routine health insurance now, but, as we've seen, the landscape can shift pretty rapidly and so it's not really a protection. You know, we talked about it. You know, when I see patients, I talk about it, as this is a protection that's in place right now but that's not always guaranteed to be there right. That protection could go away and then anybody can use that information for whatever they want.
Austin McKittrick:So that's always kind of a risk, and I think that's one thing that people are really concerned about is that you know, if that data were to get into the hands of someone, that could really impact how they're receiving health care or receiving access to insurances or that kind of stuff. But, like I said, I just I kind of look at that as such a I don't know. I just feel like so many things would kind of have to go wrong in order for that to be a real scenario. But I'm not to be honest, these days really, really anything out.
Katie Stoll:So from the insurance standpoint. I've been thinking more about how this could play out, and it just brought to mind an article I read about how life insurance companies evaluate individual applicants for new life insurance, and it brought me to this MIB group. So this was, I mean, according to their background, mib was founded in 1902 by a group of life insurance companies with a desire to create an industry-wide database of life insurance and other products. The goal was to share information as a way to protect applicants, insurers and policy holders from omissions and fraud that prevent the sound and equitable underwriting of life insurance and other products. So this is like an organization that life insurance companies buy into as members and then they have access to shared information from applicants. So if you apply for life insurance at one company and then you apply for another life insurance through another company, they can cross reference what you disclose about your health or other background history. So that was kind of surprising to me that they've got this consortium, that they can share data amongst each other through this kind of this entity. But then what surprised me even more is that there's this whole industry of companies that actually sell data to the MIB to also cross-reference. So, for instance, there's a company called ExamOne that's part of Quest Diagnostics. There's this Milliman Intelliscript, but these companies actually sell information about your lab results and your prescribing history, like if you've had prescriptions.
Katie Stoll:The first article that I had read about this MIB group was somebody who was sharing that they had not disclosed like a psychiatric diagnosis, but that the life insurance company found out because of a prescription medication that was written by a psychiatrist.
Katie Stoll:So and kind of going back to how they even found that out and I've seen this, you know, with genetic counseling, like people disclosing records too is that this is the way that this, that this is all acceptable, is that when you go to take out a new life insurance policy or you apply for it, you're signing your permission to get this information. So you're saying, yes, you can access my health records. You can access, and I think that you might not even realize where they're pulling it from, but you've given permission to access this. So I could see like an industry like that could be. That could be really useful. Right, I mean, it's kind of following the existing regulations to say, yes, if somebody signs their permission to access their health records and their health records are part of this consortium that includes some of your genetic information susceptibilities, that that might be just fine for the review, and an organization like the MIB group might just have ready access to that for different people who have applied for insurance. So I see that as like maybe a somewhat realistic way.
Austin McKittrick:I play devil's advocate in the sense of like. So if you're applying to a one life insurance and disclosing like a mental health disorder, right, and then you're applying to a different insurance and not disclosing that, then you're technically committing fraud, right, so you're not disclosing. So that's the thing is. I feel like a lot of these scenarios it's to catch people who are trying to game the system in a way.
Katie Stoll:Right. Well, I'm sure that that's part of like the impetus behind the MIB groups. You know, founding is to try to reduce fraud and make sure that they've got good information. But I guess that let's say this is a hypothetical, but let's say, like, you have a variant. Let me back up even further. You might not know that your 23andMe data is being sold as part of a health consortium to a group like MIB, right? So when you say yes, you can get my medical records, you might not realize that one of the things that they're accessing is through a channel like the prescription data or the lab results data, because it's just kind of buried in the fine print. It might be there but it might not. Or our interpretation of things like your MUTYH variant, you know, might be interpreted differently in a way that could, you know, be maybe misassumed to present some risk. I think it's just hard to know.
Austin McKittrick:I would say too, though, if you're signing a release like that, I would be like, why wouldn't you assume that they're pulling all that stuff? Like if you're applying for life insurance and they're saying we're going to scour your background and determine your level of risk, if it's buried in the print or not, like why would you not assume that they're going to pull all that stuff? I would and I mean, I think that it's tricky too in those situations where, like in Canada we were just talking about this the other day where you can't life insurances can't use genetic test results at all when they're determining. So the thing that's tricky is they can't even use it if it's negative. So if I have a family history of a BRCA mutation and they know that and I test and I'm negative, they can't use that. So like, basically, my insurance rates are now higher because I have this family history, even though I've done the test to kind of make sure I'm not at increased risk.
Austin McKittrick:So there's always, I think, going to be these interpretations, and that's where I think it comes back to more regulations too. Like these companies shouldn't be allowed to do all this stuff. There really should be regulations, guardrails, like you said, to kind of keep them in line and make sure they're not doing these kind of shady behind the screen things or you know, if they are operating that way, that it's really it's really transparent and people are aware of what they're signing up for.
Stephanie Meredith:And I think it's really important to, as far as genetics goes right, like if you're actually picking up a prescription for something, that's something you have right and you've been diagnosed with that thing, but with your genetics and this is something I'm learning so much more through all of you is that often that's you know your probability of developing a condition and there's not you know, it's not a for certain thing you do obviously have increased chances. But I think that's where the variables would get really difficult. If you know they're trying to use that metric for life insurance, and that's where I I can see where that's valuable to have the guardrails like you were talking about in Canada, austin, because you have to figure out which variables should be allowed to be included because they are actually reliable information, and which ones are not, or which ones are discriminatory information.
Austin McKittrick:That's the thing. That's tricky too, I think, is a lot of. You know genetics is really unique in the sense that it's not often black or white. It's not like you have this or you don't have this. It is this gray area where a lot of interpretation is needed, and that's part of the ball I think that gets dropped is that genetics just gets treated like every other type of test and they don't really appreciate the nuance that comes with it, and so they're making these like yes or no decisions without really appreciating that there's a lot in there that they're not really looking at.
Austin McKittrick:But again, it's a, it's a business too, so it's kind of like, you know, I mean, that's that's where we get to this kind of intersection of health care and business, where it's really. I personally find it very uncomfortable and it's my least favorite thing about health care, because it really comes down to you know. You have a limited amount of resources and funds, and how do you distribute that to people in a way that's fair, equitable, makes sense? You know. You're actually you know, doing quote unquote the right thing, you know.
Katie Stoll:Yes, and right now in the US that's very challenging because so much of our healthcare system is kind of profit driven and not necessarily evidence driven. That's kind of one of the things too I think about data like this, I mean, and maybe I was wondering if, to some degree, maybe people are less concerned about their raw data from 23andMe because it's mainly this file of these you know single nucleotide polymorphisms, right, like it's not all of your genetic code you know, but there are, you know, whole companies that are you know code you know, but there are, you know, whole companies that are you know make making their business out of these interpretations of these, these SNPs, sometimes on pretty weak association studies that you know that are predict, that are trying, that they're using to try to predict all kinds of things from traits to behaviors.
Katie Stoll:I think a lot of people miss the nuance of genetic testing and and and want to just think that it is like clear and precise and facts Like there's no, there's no question of what, of the, what those results are. So if somebody will sell you a test that says, yeah, we can predict you know X, y or Z trade about your future baby, like based on this, you know array of, you know genetic variants, then you know many people want to believe that that's true.
Austin McKittrick:And that goes back to marketing, right, like, how are companies allowed to market stuff like that? That makes no sense to me and that's honestly the thing out of this whole data sale. The thing that really thing, that really kind of sticks in my craw is the fact that somebody they're using my data to basically just make money for themselves. Right, it's like they're using it to, but I mean, the other thing is they're using it to make money for themselves in some cases, to develop therapies and better tests and like, in some ways, it's getting used for a really beneficial you know cause. But I think it's just there's just the lack of transparency and the lack of regulations to ensure that it's being done in a way that's not messy or putting people at more risk than needs to be.
Katie Stoll:Right. Sometimes it might be used for good things, but sometimes it might be used to create and sell snake oil or or even worse things that could really like be used in a discriminatory and hateful way.
Austin McKittrick:Well and that's part of the thing too is, I think there is a certain amount of consumer responsibility in recognizing that these are companies. These are businesses. They're trying to sell you stuff and you have to kind of start looking at that stuff with a little bit of a critical eye. You know it shouldn't be a consumer's responsibility to be able to piece that apart. That should be done by regulatory bodies. But understanding that that's not really happening, I think it really is the onus of everyone to take responsibility for yourself in a certain degree. Right, like okay, well, if I'm going to do this test, I need to look at it. Make sure I know what I'm doing, make sure I know what I'm paying for, make sure I know what it's telling me.
Stephanie Meredith:It's really complicated when it comes to genetic testing, which is even more reason you should talk to a genetic counselor, and you know, I guess one of the nefarious ways I was thinking about is that there's a lot of concern, for example, in the autistic community, about looking for genetic markers for autism and using that for some, you know, possibly eugenic purposes and in preventing the birth of that population. And I know that you know those are things that maybe people don't consider when they give their genetic information and their genetic sample. That it could be used to, for example, find what those genetic markers are, and it could be used in very good ways to, you know, target health problems that people have that they do want to be addressed. But it could also be used in other ways that are harmful to those populations. And I think the other thing you were making me think of when you were talking about you know, people not necessarily realizing they're part of a grand experiment is Henrietta Lacks. I mean, that was such a personal example, but then it became a big public health example because her tissue was used without her consent in ways that benefited a lot of people and, in a lot of ways, also exploited her and her family.
Stephanie Meredith:So I think you're right. I think that's where you really need to have. I think you need to have better warnings on things when people are doing it, even if they're making their own choices, but just letting them know this is how your information could be used, like when you buy cigarettes, right, and I think also having those, those rules in place where we're like, okay, actually this is something we want to make sure we prevent. We do not want the transfer of data and if, or if there is going to be a company that goes bankrupt, we want people to be able to choose to withdraw from this study, which you can do with, you know, any IRB approved study.
Austin McKittrick:Well, that's the thing is, this is kind of the wild west, right, like I don't feel like this has really come up in any other industry so far where you've got this amount of data that's so unique, identifying and personal to people and can be used for so many different things. So I think really I feel like genetics the last maybe 10, 15 years, I feel like a lot of it is us trying to catch up, like I feel it's definitely been the cart before the horse and I feel like we're really trying to just kind of play, clean up and get regulations in place and figure out the best way to do things like afterwards, which is obviously not the best way to do it, but with industry pushing everything so fast, it's kind of just the pace we've had to go at.
Katie Stoll:Yeah, and it's not going to get easier. I mean, I think that, if anything, everything there's a push towards deregulation and not better protections. Austin, I just thought of something I'd love to put in our show notes and just to bring up kind of that relates to this and kind of what not knowing what part that you're part of this big experiment and you know kind of thinking about the different ways that information may be used. And you wrote an awesome article back in 2019 for the DNA Exchange.
Austin McKittrick:Oh God, was it that long ago?
Katie Stoll:Yeah, can you believe that? But you focused on a study that was published in Science Magazine and it was based on data from both the UK Biobank and 23andMe customers. So 23andMe customers, I think, oftentimes wanting to do good for science and help further things along say, yes, please use my information for research. But in this case, this study was looking at, as you said, the age old question where's the gay gene? And ultimately it was a flawed study in that they were looking at behavior rather than how people identified their sexual orientation or or identity, and this company is basically taking the information from that, from that study, started up to take people's raw data from 23andMe and give you some information about how gay you are, whether or not you're gay, how gay you are, yeah right.
Katie Stoll:And you made a great point that I mean this was coming at a time where there was a lot of discrimination and really risky things like this app developer was based full time in Uganda at the time and there was a at that point. You pointed out that there were plans to make death penalty the punishment for homosexuality, like I mean, I do think there's maybe some extreme examples, but you can see how, like oh, the goodwill of people participating in these studies, giving information, not only their genetic information, but also answering all of these surveys many cases that then go to like basically create companies that are going to be profiting off potentially like really discriminatory activities. It's pretty concerning in that way.
Austin McKittrick:Yes. So I think I guess what I think is people that are going to do that. There's those people out there anyway, right? So that guy was going to do something like this, whether he had that specific app or not, is kind of the way I think about. Anyway, right, so that guy was going to do something like this, whether he had that specific app or not, is kind of the way I think about it. Right, people are looking for these opportunities to exploit things to make quick money, grabs, like all this kind of stuff. So I think this is one area where people can just really easily glom on and try to spruce it up and sell it as something it's not. And that's where I think it goes back to the regulation and consumer awareness. Like, you really have to be discerning about what it is that you're doing and purchasing and who you're giving your information to.
Austin McKittrick:I don't know when it came to that that specific test, you know, first of all, I was very offended. I took it and I was like less than 50% gay, so that's how I knew for sure. It was a complete sham. But the other thing is too is 23andMe, you know, it's like they'll tell you these. You know you have the increased risk for this or you have, you know, like I said, sticky earwax or whatever.
Austin McKittrick:But then it's you go and actually do a little bit of digging and you look at some of the studies that they're basing all this information on and it's, you know, very, very non convincing, right.
Austin McKittrick:So like studies from you know, you know, china, that were done 15 years ago, that had 10 people in them, you know. So it's like stuff like that where it's like if you really start scratching the surface a little bit, you really start to see kind of how flimsy a lot of those claims are. And that's where it just comes back to, I think, like just being being more aware of that. These are businesses that are trying to get your money and they're gonna. They can make money off of you, they can make money off of your data. Like I said, that guy, I think people, there's gonna be people like that, no matter what. But it is kind of weighing out too, like for every person like that, how many people have something like this helped? And I don't know the answer to that, but I think it is something that kind of counterbalances it in my mind a little bit.
Stephanie Meredith:Well, and I know something we kind of talked about too is that our healthcare system period and also these companies. Their main objective, as is any company that's publicly owned, is to bring money to shareholders. So the purpose of our healthcare system isn't necessarily to keep people healthy, it is to make money for shareholders, and if they end up keeping people healthy along the way, that's great right, and that is the goal of many of them. Like we said, that can be a gray area, but that is their ultimate goal.
Stephanie Meredith:I think where I get concerned, just from even a public policy perspective, is that we have a lot of federal funding that has gone into the development of these tests, into the development of these tests, but yet, at the same time, not the development of the educational infrastructure to support patients who are getting those results, and also the care I mean with genetic counseling, with all of the different resources that people need if they find out that they have a higher risk for some of these genetic conditions. I mean, if you find out you have the BRCA gene, do you actually also have the healthcare in order to get what you need? And so I think that's my other as far as policies and guidelines that I'd like to see is that, if these companies are truly intended to turn a profit, why are we subsidizing them instead of the actual public health support that the people need?
Katie Stoll:Yeah, and I think to the consumer responsibility. It's really hard to kind of push against the amount of money that goes into the marketing to make this seem like. Selling these tests depends on making them seem simple and easy and accurate, and there's a lot of money that goes into the marketing to show it that way and not to highlight the complexities or any of the drawbacks or limitations of this testing, and I think that was another thing. I wanted just to take an opportunity, as we're talking about 23andMe is just, you know, yes, some of the association studies are kind of flimsy in terms of the data for traits or things that they're bringing up, but I think for some other things that are really real and really serious, sometimes the information is just really incomplete.
Katie Stoll:And just thinking about some examples, we've seen through GSF, where people have been drawn in by the marketing, that this testing is going to be like providing information about the BRCA one and two genes, for example, which are really important.
Katie Stoll:We've got decades of evidence about how important it is to know if you have a pathogenic variant in BRCA1 or BRCA2 in terms of your risk for breast, ovarian, prostate, pancreatic, other cancers, and we've got good evidence-based strategies to help reduce that risk or detect cancer early. But if you're thinking about these genes, you know, as they contain thousands of these DNA base pairs, and the initial test that 23andMe was advertising looked at three different specific variants and so would miss almost all of the variants that we typically see in these genes. I mean, it was probably not a bad test if you had mostly Ashkenazi Jewish heritage, but if that wasn't the case, it was probably going to miss your BRCA mutation and we've seen some tragic cases where people have been diagnosed with advanced cancers that could have been prevented and they had sought out the 23andMe test because they thought it was providing that information.
Austin McKittrick:So that's where I think some of these tests potentially could actually cost more money. Like, if you want to look at it just like a business, right? So you've got a patient who has a BRCA mutation. If they go to 23 and you think they're in the clear and then end up with cancer, treating someone with cancer is a huge financial cost, right For that insurance company. And kind of the flip side. If they go and they get a faulty result and think they have a higher risk for something, that results in them requesting to get more screening of some kind or whatever, Now the healthcare system's paying for that unnecessarily based on a faulty result. If someone doesn't know to kind of verify it and make sure it's not you know, hooey.
Katie Stoll:Yeah, I was thinking about we usually try to kind of wrap up with a call to action and I was initially thinking like maybe our call to action would be like I've seen so many other entities you know calling for like deleting your data, and I do think that that for people who are concerned about their privacy and who may end up owning 23andMe, I think that you know taking those steps and I think that can be important and people may not all feel like that's something that they need to do, but I think that if you're concerned about that, that's an important thing.
Katie Stoll:But I think a bigger call to action I wanted to make today was just that you know, if you were drawn into testing like 23andMe because you were worried about something in your health history, if you were worried about your family history of cancer or you're wondering about if you're a carrier for cystic fibrosis or some other condition, I think it could be really beneficial to you to seek the care of an independent genetic counselor who can really make sure that your questions were answered by that test, because there's a good chance that the testing you had done was incomplete and I think that a genetic counselor could help walk you through that to make sure that you're getting the questions answered that you're bringing to the table in some ways that these direct-to-consumer tests may not.
Stephanie Meredith:And I think another call to action that I'm really gathering from Austin is to have better regulation of the tests and better investment of our public dollars, and I think that's something that ideally, both conservatives and liberals could get behind, because, you know, on the progressive side there's the consumer and patient protection and on the conservative side it's the being better stewards of funds. If you put money into this test, then you want to make sure that you're not causing even more, you know, healthcare problems, health costs, because the results aren't being delivered in a way that's actually actionable for people and, in some ways, could be actionable in negative ways.
Austin McKittrick:Well, I'll shout out to or call the action to. I think you know having these regulations is really important, but I think you know the other thing is we really can only control what we can control, right. So I think I would just really really encourage people, if you're doing any genetic testing that's not ordered by a provider, to really really do your research and really look at what the test is going to tell you. Look at what they do with their data, look at their privacy information. If there's questions, have a really low threshold to reach out to a genetic counselor to make sure that that's the test that's going to tell you what you need to do, because you know it may be a cheap test, but a cheap test doesn't really. It's just throwing money away if it doesn't tell you what you want it to tell you.
Stephanie Meredith:And I'm gonna say it. I'm gonna say it even though it may not happen, but Medicaid and Medicare coverage for genetic counseling.
Austin McKittrick:And like an actual coverage, like like real money, not just like $5. We are important, we do good work.
Katie Stoll:Yeah, that time and expertise is, I think, really important, especially when something so important as you know, these big health questions people have are on the table.
Katie Stoll:I guess, as we're wrapping up, I just want to thank you, austin, so much for joining us today. I'm so grateful for your time and always for your perspective. It's great to talk with you about this. We usually end up just kind of talking about something bigger in the world that we're seeing, that we feel grateful or glad to see, and I also just wanted to share I'm hoping next week or maybe the week after we'll be talking a little bit more about the American College of Medical Genetics and Genomics Conference that just happened in Los Angeles last week. I'd love to talk more about the details, but I just wanted to share that. I recognized at this meeting that the medical and clinical genetics community seems to really be recognizing the importance of bringing lived experience into their education, into their practice, and I saw more of that at this meeting than I've ever seen at any genetics meeting and that was really a refreshing and wonderful thing to see. So, stephanie, austin, you guys have any shout outs?
Austin McKittrick:I can say I kind of I guess genetics adjacent. So one thing I've been trying to figure out just little ways to you know you can help throughout the day or just kind of give back, and so one thing that I found that I really really like is that it's an app called Be my Eyes and it's basically you just have the app and somebody who's visually impaired. If they need help with anything, they just call on this app and then, if you're available, you answer the call and then it's basically like I've had somebody hold their camera up to their freezer so I could tell them which meal that they were picking out, or hold their cloth. You know they're going up to their closet to help them pick clothes out, you know. So I think that's just something that I found that's really kind of a you know it's easy to do, it's very helpful to people and it's you feel really good afterwards.
Stephanie Meredith:You know that's cool and I know I was particularly grateful at this last ACMG meeting for the patient advocacy groups. I always have the best time going and visiting with them and you know got to talk a little bit with AXIS and the Support Organization for Trisomies and just how important their presence is at those meetings because they are also on the ground supporting those families after they get that genetic information. That's great.
Katie Stoll:Hopefully in the next couple weeks we'll be talking about the American College of Medical Genetics meetings and some reflections there. Another big news story is that earlier this week a federal judge in Texas ruled that the Food and Drug Administration does not have the authority to regulate laboratory developed tests. So all of our talk about needing more regulation, we'll have some things to talk about with the fact that we might be seeing less and all the implications this has for the big wild west of genetic testing. As always, we invite you to subscribe, like our show, send us comments and thanks so much for joining us today. Thanks so much.
