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Genetic Frontiers

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by Susanna Smith & Brandy Mello

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A podcast about the promise, power, and perils of genetic information (geneticfrontiers.org)

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Recent Episodes

June 25, 2026

Privacy, Discrimination & Your Genetic Data

Susanna Smith On today's episode, I will be talking with legal scholar Anya Prince, who is a professor at the University of Iowa College of Law. Anya's writing and research focuses on health and genetic privacy, particularly the potential for genetic discrimination and the privacy implications of big data and genomic and genetic clinical care and research. I became really interested in Anya's work because she's published extensively about GINA, the Genetic Information Non-Discrimination Act, writing analysis about what legal protections exist for genetic information in the United States and examining through survey work what healthcare professionals, insurance commissioners, and the public do—and don't—understand about healthcare privacy and the potential for genetic discrimination. I'm interested in how we protect people's genetic information because as a provider of genetic disease, I personally could stand to lose a lot if protections are insufficient. I also take the view that people, all people, should be able to exercise privacy and control over how their healthcare In my view, we don't have enough protections in place yet, and we're not well prepared for a future or even the present moment in which genetic information is increasingly driving healthcare decisions and operates as a valuable form of data currency. So thank you for joining me today on Genetic Frontiers, Professor Prince. Anya Prince Thanks for having me. Susanna Smith I want to start by talking a bit about the big picture. How is privacy viewed or valued in American culture, the legal system, and in healthcare? Anya Prince Yeah, so I think, you know, so many people say, oh, privacy is dead. We don't have privacy anymore. But when you actually start talking to individuals about privacy, they really value it in lots of different ways. But I think one of the big problems is there's a disconnect between how the public thinks that privacy is viewed or valued and how the legal system actually values it. So overall, and we'll talk about the details, I'm sure, today, but the law is not very good at protecting health privacy. And so most notably, the law treats the privacy of health data and genetic data differently depending on if it's within clinical care, within a research setting, or within a commercial space. And so it's really hard for the public to see whether or not the protections match the values that they have for the privacy of their health information. Susanna Smith How would you describe Americans' relationship to privacy? Anya Prince I think that they value it. I also think that people are happy to share information, especially if they know how it might be used, or if they trust who they're sharing with. So on the one hand, you know, people use social media and post all sorts of things that could tell them about, you know, tell others publicly about their health information and so there's lots of ways where we're not as private about our health information as one might think. But there's also data that when you tell people that they might be part of a biobank, or you tell people that their genetic information has been commercialized. They're actually surprised about that and uncomfortable with that. And so I think we have a little bit of a both-and, right? In some ways people don't think about privacy on a regular basis. They just go through the world and social media and the internet without necessarily having that in the forefront. But when you start to ask people how they want their information to be used, I think we start to see more of those values coming in. Susanna Smith Yeah, and I think trust is a big part of it, right? Like, how private you want to keep information is often about how you trust whether it's going to be used in a way that might harm you. So how do you think about the importance of privacy and or data security when it comes to healthcare data versus genetic data specifically? Anya Prince So I think, so some argue that thinking about the privacy of genetic information or health information without thinking about just general privacy at large is exceptionalism that we should not think about health privacy or genetic privacy as anything different than just how do we protect data at large? Some people argue that, but I think it makes sense to think about the privacy of health data and the privacy of genetic data as more important or something that should be given extra consideration, both in the law and both by the public. Part of that is that your genomic data, your health data is incredibly valuable so there's, you know, most of the cybersecurity attacks and threats to data privacy come to hospitals and places that hold our health information because it's just valuable on the dark web. But it's also valuable for advertisers, right? If they know that you might have a predisposition to diabetes, they might try to sell you insulin pumps or healthier foods or whatever that is. And that could be really beneficial to a person, but it still means that somebody is leveraging your health data in certain ways. And for better or worse, I think people think about their healthcare and especially their genetic data or their genomic data as different than just general data, you know, especially genomic data. It's who we are. It's our blueprint. It ties us to our family members. And so I think people do think about the sharing of their genetic information in a much different way than other health data and other general data, and so therefore, I think about the importance of privacy and data security in that space as heightened since people tend to value the privacy of that information a little more. I also think, and this might complicate the picture a bit, but some of my other research is in how much we can infer private health information from other information. So let's say we say, Okay, I have a predisposition to colon cancer, and so I don't want my genetic information that that shows that predisposition to be sent around. Okay, well, that's really important to protect that privacy. But if I joined a Facebook group for the Lynch syndrome community or I did a bunch of Google searches or online searches for cancer predispositions, those things could also proxy for that information. So while I do think it's really important to keep genetic information more private, because like you said, you can't change it I also think it's really important for us to think about how much we need broad data protection to because of the ways that we interact with the world based on what we know about our health information. Susanna Smith Yeah, I think that's such a valuable point because we kind of, and even I do this sort of narrow in on certain data points as these are things I want to keep private, but I operate in a world, right? So I'm creating data all around me by my behaviors that is collectible, people can analyze it. Anya Prince I was just going to say, it might not be perfect, right? They might get it wrong like you know as a health privacy researcher who does not have a medical background, I search all sorts of diseases on Google, right, to try to just learn about the communities and the predispositions that I'm studying. And so an advertiser might think that I've ended up with 100 different conditions but there could be ways that they could identify it correctly. Susanna Smith Yeah. So, you opened with saying, some people say privacy is dead. It sounds like you don't totally believe that. I don't totally believe that, but what does privacy mean in a world where your genetic data, possibly your full genome, could be collected from your toothbrush and your genetic data can implicate others, namely people you're biologically related to. Anya Prince Yeah, so these examples do show ways in which it's really hard to completely insulate ourselves from intrusion upon our confidential information. But I agree with you that privacy still matters. There are some state laws that or some states have laws that are against what's called surreptitious testing so that collecting something from your toothbrush and sending it in for a testing lab. There are laws that help protect against that. But also, I think each time that anybody is able to successfully minimize the amount of data available about them, it minimizes their likelihood of harm. So even if it never completely ameliorates the harm that could come, I think privacy matters because it gives us some control and the ability to lower our risk of future harm that might come if somebody knows our information And it also just as you started off the podcast saying, I think it matters to give as much control as possible to somebody to say, this is how I want my data used. I think it's respectful. I think it it's just something that everybody should have as much as possible, even if it's harder and harder to gain in this complex world. Susanna Smith Yeah, I mean, my opinion and my view of it is that we're also only slowly creating those systems of control, right? That we started out decades ago collecting this data and then sort of in some ways backed into this idea of, oh, well, we should figure out some ways that you can control how your data is used. So it feels like there's a catch up that's happening societally of awareness of what data can tell us about a person and how that data might be used. And I'm talking even more broadly than healthcare and genetic data, but including that. Anya Prince Yeah, I think that's a really important point. Susanna Smith So you published this brief but really rich article with a co-author in JAMA called "Protecting Privacy When Genetic Databases Are Commercialized." In that article, you write that many people are unaware that their health or genetic data may be commercialized, whether it was collected when they were a patient, a research subject, or through some kind of direct to consumer testing. And then when people realize this, they're often uncomfortable. But this is long been the model, particularly for direct-to-consumer genetic testing companies. So how do you view this disconnect between what people think about the privacy that they have over their health and genetic data and how private their data actually is? Anya Prince Yeah, so I think this is really a confluence of three problems. So that's going to be a little bit longer of an explanation, but I want to walk through each of those problems because I think it goes to what you were saying of people playing catch up. So one, we have a system in this country where privacy rights, for the most part, especially outside of clinical care and outside of the research setting, is given through what we call notice and consent so those are if you download an app on your phone, they give you your privacy policy, and you say, yeah, yeah, yeah, of course I've read this and you click on it. And basically nobody actually reads those all, right? But that's notice and consent. We've given somebody notice of how their data is going to be used, and they consented to it, and then it's fair game. And that's such a problem because we know that people don't understand fully how their information can be shared, and yet we still have that as the legal basis for a lot of respecting privacy in this country. The second problem we have is that we've built a data economy. So there's the saying of, "If the product is free, you are not the customer, you are the product, right?" And so there's so much of that in our society now because companies are allowed to share people's data and sell people's data. Again, this is outside of the health care, healthcare and research setting space. But for the most part, we have companies that have built their business model over treating people's data as a monetary value. And then the third problem, I think, is that the law treats de-identified information differently than identifiable information. And here now I am talking about the research context and the healthcare context and the commercial context. And so there's a lot of sharing of our de-identified information that does not need people's consent, and that happens wildly. And on the one hand, that's great, because a lot of our research has happened because we can now study 1,000,000 people's genomes at once. The researcher doesn't know that it's Anya or Susanna's genomes, but it's, you know sample 1, 2, 3, 4, 5, and 1, 2, 3, 4, 6. But when it comes to genetic data, it's hard to completely de-identify it because it's unique to everybody. And I think people still might care about how their information is used to, you know, in ways, even if their name's not attached to it. So when you put all of those three systems in place, it really creates this disconnect where people might think that their health and genetic data is more protected. And in reality, they've often given away their rights of how their data is used. And then there's this monetary incentive for companies to run wild with it. Susanna Smith Yeah, I want to pause on two things you said there. One is this idea of what health data is collected when it's collected inside a healthcare system and possibly some of the same information could be collected direct to consumer and legally, how is that different? How is that treated differently? If I do it through a company versus I do it through a clinician and a hospital system? And then I just want to ask, what is your real opinion of "de-identified"—and I'm doing air quotes here—genetic data. Anya Prince Yeah, so the first one, so in the healthcare setting and health insurance setting, I should say, the health insurance portability and Accountability Act, or HIPAA, applies. So HIPAA has a privacy rule that really starts with the baseline of health information should not be shared unless and then there's some exceptions. And so if you go and get genetic testing with a genetic counselor in a clinic, then your information is protected in a much different way. But one of the exceptions of HIPAA is that if it's de-identified then the hospital or insurer doesn't need consent to further share it. But that has so much more protections than in the commercial space. So if you do direct to consumer genetic testing, HIPAA does not apply to those type of companies. And so really at the federal level, the only thing that applies in terms of privacy, is that whatever they say in their privacy policy, they have to follow, otherwise it's an unfair business practice. And so theoretically, I don't know of any companies that do this, but theoretically, the privacy policy could say, we are going to put your entire genome on the web for everybody to read, and you consent to that. Is that okay? And then if you click I agree, that's fine, right? So theoretically, they can say we could sell this for millions of dollars. You know, they could agree to sort of anything, or they could say that they're going to do anything. And as long as you click, I agree, right, and they abide by those terms of the privacy agreement that you agreed to it's really the Wild West at the federal level. Now, at the state level, some states are increasingly passing laws that give more protections to individuals. But that's the dichotomy in terms of healthcare and outside direct to consumer testing. In terms of what I think about de-identified there have been plenty of studies that show that that genetic sequences, raw genetic sequences, that have had people's names removed can be re-identified. And so just removing somebody's name is not enough to completely expel the risk. De-identifying genetic information lowers the risk. So would a pharmaceutical company that has a large database of hundreds of thousands of genetic sequences really go back and find one particular persons and re-identify particular persons. No, I think that's relatively low risk. But it is interesting that we've created laws that treat these information differently, whether it's identifiable or de-identifiable without really grappling about what that means in the context of genetic information Susanna Smith Yeah, and I think I want to pause on this point because I think the reality is the science has changed, right? And so the laws were formulated around this idea that that if you strip personal information out of it, we're protecting people's privacy. And then the science advanced to the point where we can go back and do the work to identify. And so I think it's just this place, and it exists in other places, where the current legal protections don't reflect our current scientific understanding of what we know about DNA. Anya Prince Yeah, and I think this to not make this exceptional about DNA, I think this is a problem for all data, right? There have been studies, there's a <a href= "https://www.hks.harvard.edu/faculty/latanya-sweeney">computer scientist named Sweeney</a>, her last name's Sweeney, and <a href= "https://news.harvard.edu/gazette/story/2011/10/youre-not-so-anonymous/"> she's done studies showing</a> that you can identify individual people with it's something like age, zip code, and gender, right? You can identify like almost everybody, I don't know, it's upwards 80, 90% in the study of people in the US, just based on those 3 things alone, right? Because if you think about it, how many people in one zip code have the exact same birth date? You really start to narrow very quickly, and so then, if you think about all the data crumbs we're leaving everywhere, it becomes pretty easy pretty quickly to put together different data points about people. So I think this is something that the law and society will have to grapple with, not just in genetics, but in just big data and algorithms in general. Susanna Smith Yeah, I totally agree with you. And I don't want to go down the entire dystopian path of like the reality we're living in currently of how that data could be used, but I think it's a great point. We're really lacking in both data privacy protections and data security protections, but I would also say public education around what people understand about what data is being collected on them regularly, and the current uses and the potential uses. Anya Prince Yeah, and I think that that current use versus potential is so important to you, right? I came back to… I still think it makes sense. I mean, I still think it's a good thing that when people share information, they de-identify it, right? If a direct-to-consumer company is sharing with a pharmaceutical company, great to de-identify, because that lowers the privacy risks. So again, I go back to, sure, we could go down the dystopic path and have all sorts of scary scenarios, but in reality, right now the motivations to re-identify large data set, I don't know, what would they actually be? So is it theoretically possible? Sure. But does it minimize the risk? And really, you know a pressing risk at this moment? No, I think there's other pressing risks in terms of privacy that we might want to tackle first. Susanna Smith What would you see those as being? What do you think are the most pressing risks in the privacy world around healthcare and genetic data? Anya Prince So one is the disconnect, right? I think we should make sure that and by that I mean the disconnect between how people think their health privacy is protected broadly and how it actually is. And so I think one of the largest ones is the fact that outside the healthcare setting health information, the exact same health information, is protected in a different way. And so that's that's one that I think would be important to do. This is outside the privacy space but I think another piece is how the information is used, right? So another part of my research is discrimination, and I think privacy and discrimination go hand in hand because one of the big concerns about not having your privacy protected is the risk of discrimination. So I think then shoring up anti-discrimination laws is also helpful. But from this privacy perspective, I think the privacy laws are just as important, if not more, because the best way to prevent discrimination is to stop the person from having the information with which to discriminate. And so both of those would be things that I would try to tackle. Susanna Smith I want to pause here and just have you say a bit about where we are on anti-discrimination laws, particularly around genetic information in this country. I've talked about in other episodes, sort of the federal law, GINA, and the loopholes in the law, but I think it's also really important to stress, particularly for practicing clinicians, that the protections are different state to state, and it depends what state you're practicing in. So could you just expand upon that a little bit with clinicians in mind? Anya Prince The Genetic Information Non-discrimination Act (GINA) prohibits health insurers and employers from using genetic information but it doesn't cover other any entities. So the main ones that are talked about as not being protected at the federal level are life, long-term care and disability insurers. And so at the federal level, a life insurer or any of those other insurers could take somebody's genetic information and say, we're not going to insure you, or we're going to charge you a higher premium because of your genetic test results. At the state level, there are some states that have provided protection. For example, the one that has protected all three is Florida now prohibits life, long-term care, and disability insurers from using genetic information for any insurance purpose whatsoever, right? And I think the language of the law is any insurance purpose. And so that's the most protective one. But there are some other protections that create a patchwork across the country. For anybody, clinicians or patients, I actually recently collaborated with a researcher from the University of Maryland School of Law who does <a href= "https://www.wired.com/story/police-used-a-babys-dna-to-investigate-its-father-for-a-crime/"> research in law enforcement's use of genetics</a>. We've created a website that maps out the state laws regarding life, long-term care, and disability insurance, as well as the state laws that regulate life insurer use of genetic information. So you could check those out to see what the legal protections are in your state. Susanna Smith That website, for anyone listening who'd like to check it out is <a href= "http://geneticprivacy.lib.uiowa.edu/">geneticprivacy.lib.uiowa.edu</a> and we'll put a link to that in our show notes. So thinking about this disconnect that you mentioned, how do you think people and clinicians should think about both the privacy and profit motives when they're either deciding to undergo or they're recommending genetic testing or genomic sequencing, like, how should we shift our mindset around what that choice is? Anya Prince I think this is a really hard one in practice because there's a balance between access and cost and privacy. And so sometimes I think the benefits of access are greater than the privacy risks. And so I know I've heard from people where a genetic counselor, for example, might say, well, you could do this test in the clinic, but it's going to cost X amount of dollars. But if you go and get this test outside the clinic, it will be cheaper, right? And so, I don't think that those are bad things to recommend, but I do think that patients should know that they're balancing privacy and cost in that case. So I think it's just really important for clinicians and researchers or clinicians when they're talking to patients to be open about that and to also understand what the protections are. And it gets complicated quite fast, because there can be an outside genetic testing company that's what's called a business associate of a hospital, and if they're a business associate, then they do fall under HIPAA and so the lines get blurry quickly. But I think clinicians should understand what laws might apply, what privacy laws might apply, and just be upfront with that with their patients. I also think in terms of researchers thinking about this I would encourage researchers to have a little bit of self-reflection, right? We talked about how de-identifying genetic information allows broader sharing. Really, researchers love this because it allows them to create large databases of hundreds of thousands or millions of participants and really do groundbreaking research But there also could be researchers who care about their research participants' privacy. And so I think there's a little bit of tension between making research easier and faster and also respecting people's privacy and allowing getting more specific informed consent. And so I think members of the research community sometimes push more towards the efficiency of their research than necessarily asking each individual person for consent for every study, because that would take a long time. Susanna Smith I think when researchers fail to really understand how people value data privacy, and I think increasingly, the public is waking up to what is data privacy and how data is being collected on them and how they feel about that, I think researchers sometimes struggle to enroll people because they haven't really engaged with how people want their data to be used, and possibly they don't engage in studies because it's being used in ways they don't agree with. Anya Prince There are… I think there are more and more people who care very deeply about privacy. I think there's a lot of people who are more comfortable with sharing a broader amount of things. And so I think it's very easy for researchers to say well, we aren't going to give those options, right? Because it's only, you know, quote unquote a small percentage of people who might… who might want those broader protections. But then I think you have to start thinking about how that might be biasing your sample or just disrespecting a small but hopefully growing segment of the population that do care more deeply about these issues. But again, it's that adds complexity and work to, you know, researchers' lives to create those different ways of going through the process. And so I think there's a tendency when with really busy people who, you know, want to do the best science and get the results and have pressures to get results more quickly to just say, oh, it's only a handful of people. And I just, I think that's disconcerting, right? I think it's… I think I would encourage researchers to think, how can we be privacy maximizing and choice maximizing? Because everybody's different in how they think about their data. Susanna Smith I agree with that, and I think it doesn't anticipate the potential of a cultural shift, right? Because as people see ways their data could be used that they may not judge as in their best interest. There could definitely be a pushback. Susanna Smith So I wanna turn a little bit. It may tie into this to direct-to-consumer genetic testing, which we've seen now an estimated 20% of adults in the US have participated in but it's stagnated, right? So people are not continuing to purchase genetic test kits at the rate that they once were. And some of that may be privacy concerns. But once you do a test kit and your genetic data lives in a database, it's owned by that company or its successors, unless you intentionally take the steps to remove it, which most people don't do. So, what are some of the ways that data could be used? And let's talk from the most altruistic to the commercial to potentially nefarious applications. Anya Prince Yeah, so the most altruistic version of what companies can do with the databases, one, of course, is returning services to the customers. So you want to learn about your ancestry, we're going to return that. If you want to learn about health information, we'll return that, maybe continuing to update as we learn more about variants of uncertain significance, for example, updating those resources. So that's one altruistic or maybe just business model way. There's also, as I've talked about, medical research or pharmaceutical advances. So for example, we can talk about one of the largest direct to consumer genetic testing companies, 23andMe. They've had multiple agreements with pharmaceutical companies like GlaxoSmithKline to look at millions of people's DNA that have that adopted into the research arm of 23andMe. And the hope would be to come up with really important pharmaceutical advances when we're pooling all of this data. I've also mentioned some of the commercial uses of genetic information. So this could be advertising, right, targeted advertising to people. And some people see that as really helpful, and some people see that as maybe more coercive or problematic, or invasive. I think that just might be in the eye of the beholder, or possibly in the eye of who's doing the advertising and what they're advertising. And then potentially more nefarious or problematic, and there's different opinions on these, but we mentioned, you know, insurance companies, theoretically, an insurance company could use large-scale genetic data to try to map actuarial results. And so by that I mean who are the populations that do cost more to a life insurance company or do cost more to a disability income insurance company? And then using that information in their underwriting. Law enforcement has access direct-to-consumer genetic testing in various ways to try to identify either a perpetrator of a crime or their family member, right? A partial match in order to narrow down suspects in a crime, and that's quite controversial. Some people are more happy with that use than others. And, you know, and going down the… again, we can go down more and more dystopic versions, but also looking at 23andMe, there was a hack of 23andMe back in 2023, and there's evidence that the information that was sought was targeting people with Ashkenazi Jewish ethnicity and Chinese ancestries. And so you know, that gets into more and more problematic potential uses when it's really targeting groups of people in ways that could be ripe for discrimination or stigmatization. Susanna Smith Yeah, and I mean, that hack I find so disturbing. I think it's important to pause there and just, what I kind of say to myself is, we're not envisioning the potential future. This is actually something that has happened. It has already happened. So... Anya Prince Yeah. Susanna Smith So I want to talk about one thing you mentioned in your article about the Coalition for Genetic Data Protection. Could you just talk a little bit about what is the Coalition for Genetic Data Protection? And then what is this model law that they have put forth. Anya Prince So there's a model law, and what a model law means is it's usually an organization that creates a blueprint of a law, and then they lobby states to pass the law, and that's really helpful for state legislatures to, you know, take something already written and then put it into their bill, and then if it's passed into their statutes. And so what it means is that you see sort of copycat versions of the law that are very, very similar across multiple states. And so there's a model law called the Genetic Information Privacy Act that has now been passed in I think 13 to 15 states it was introduced in a couple of states this year as well. So I don't know this past year. So I don't know the exact number, but it's a pretty large handful of states that have passed this law. This gives privacy rights to customers of commercial genetic databases so these direct to consumer genetic testing companies. But what's fascinating about it is this coalition that you mentioned that's pushing for these laws is actually made up of two companies, 23andMe and Ancestry. So the two largest direct to consumer testing companies are pushing for laws that regulate how they protect consumer privacy. And the laws do give some really good, sensible privacy protections. So it gives the right to delete your genetic information from a database. It requires law enforcement to have some sort of judicial agreement like a warrant in order to access genetic information in the database. So they can't just informally call up the company and say, hey, can we do a quick search for X, Y, and Z genetic sequence? And it requires some data security protocols. So that's all great. But from my perspective, there could be probably some greater privacy protections that we might want but the companies that are lobbying for this also have an interest to not be overly protective of privacy so that they can do, you know, have their business model, which is all about sharing genetic information. Susanna Smith So from the perspective of consumer privacy protections and protecting people versus companies, what do you think that the model law is missing? What would you add if you had a wand and could just add it in there? Anya Prince So a couple of things, and I'll just give some examples. I mean, we could have, you know, a multiple hour conversation about all the different ways we could have, but just a couple of examples. So the model law says a direct to consumer genetic testing company won't share genetic information with life, long-term care, or disability insurers without written informed consent. Okay, that sounds good. But when you think about the power dynamics, if a life insurance company says, hey, we're going to collect your genetic information from a direct to consumer testing company, Do you consent? The consumer could say no, and then the life insurance company can say, great, we are not going to insure you or not going to further look at your application. And so consent is important, but it doesn't really give you much power when you're dealing with large companies like life insurance company. And so California, for example, when they passed the model law, they made a change and it just says direct to consumer genetic testing companies won't share genetic data with lifelong-term care and disability insurance companies. They just got rid of the consent part and said, you just don't share it at all, full stop. And so that's a version that is a stronger protection. Protections that people have, but again, they click, I agree when they do the DTC testing without necessarily actually reading the privacy policies. So one version of the Genetic Information Privacy Act could be greater requirements to get the information in front of consumers before they agree to have them really understand what sort of sharing could happen so have more overt opt-in. Susanna Smith Yeah, no, I think those are great, and I think it's why I keep circling back to the topic of privacy and discrimination. And, you know, I've got skin in the game around all of those issues, but I think my personal scenario is very telling or it's like a canary-in-the-coal-mine type situation for what I think applies to lots and lots of people. But from my perspective, many consumers, people, and a lot of clinicians don't fully understand that. And actually, that's what your survey research shows. So when you think about healthcare data privacy and how it's approached in the United States today compared to other countries, where do you think the U.S. needs to go, and why does it matter? Anya Prince Yeah, so I think a couple of things. One, I think as we talked about more in the beginning, I think the US needs a broad general data protection law and to not, you know, that would help depending on how strongly it's written, that would help some of these concerns about how there's great federal protections for the direct to consumer or the health information that's outside the healthcare setting. And so I think that's one thing we need to do within that. I think there's a couple principles that would be really helpful to move towards. So one is this idea of data minimization. And so this is a principle that shows up in regulation in Europe. But data minimization is just the idea that companies or data collectors should only be allowed to collect and keep the data, like the minimum amount of data necessary to do its purpose. So this is outside the genetic context, but one that comes to mind. There was a flashlight app that turned on the flashlight on your phone. That was the sole purpose of the app, and it collected your geolocation data, right? There's no reason that a flashlight app needs to know where you are when you're turning on and off your flashlight, right? So that's the idea of data minimization is don't let companies collect more than they actually need. And I think this is more and more difficult thing to push against in an era of AI and algorithms, because AI is going to want more and more data, right? Companies are going to think, oh, if I get more and more data, maybe we'll come up with, you know, some new thing. So I think it's really important to keep data minimization in mind. And the other thing I think is we need to move away from this idea of notice and consent, that if we just put a complex, long privacy agreement in front of somebody, and they click yes, then we're going to pretend that they actually have read it, and can digest it easily. And that's not to say that that's a problem from the consumers, right? There's studies that it would take like days to read through all of the privacy agreements that are put in front of us. So I think there needs to be a move away from notice and consent to more protective models from the outset. Susanna Smith Yeah, I think that's a great point. And then you're constantly getting the notices from companies that their privacy policy has changed. So it's like, I didn't read it the first time. I'm not reading it the second, third, and fourth time either. Anya Prince Yeah, well, and even so, you know, I do sometimes click on those as a privacy scholar and they don't tell you how it's changed. So when you do click on that privacy update, it just gives you the new privacy thing. So then you have to go back and, like, compare, like, I download them and put them into Word documents and then do a cross-compare to see even what changed. And sometimes it's like the address that you're supposed to contact, and sometimes it's a more major thing. But there's not necessarily flashing lights that says, here's what we're doing. Susanna Smith Yeah, I absolutely agree with you. Well, thank you, Professor Prince, for joining me today on Genetic Frontiers. Anya Prince Yeah, my pleasure. Susanna Smith Genetic Frontiers is co-produced by Brandi Mello and by me, Susanna Smith. Music is by Edward Giordano and design by Abhinav Chauhan and Julie Weinstein Susanna Smith On today's episode, I will be talking with legal scholar Anya Prince, who is a professor at the University of Iowa College of Law. Anya's writing and research focuses on health and genetic privacy, particularly the potential for genetic discrimination and the privacy implications of big data and genomic and genetic clinical care and research. I became really interested in Anya's work because she's published extensively about GINA, the Genetic Information Non-Discrimination Act, writing analysis about what legal protections exist for genetic information in the United States and examining through survey work what healthcare professionals, insurance commissioners, and the public do—and don't—understand about healthcare privacy and the potential for genetic discrimination. I'm interested in how we protect people's genetic information because as a provider of genetic disease, I personally could stand to lose a lot if protections are insufficient. I also take the view that people, all people, should be able to exercise privacy and control over how their healthcare In my view, we don't have enough protections in place yet, and we're not well prepared for a future or even the present moment in which genetic information is increasingly driving healthcare decisions and operates as a valuable form of data currency. So thank you for joining me today on Genetic Frontiers, Professor Prince. Anya Prince Thanks for having me. Susanna Smith I want to start by talking a bit about the big picture. How is privacy viewed or valued in American culture, the legal system, and in healthcare? Anya Prince Yeah, so I think, you know, so many people say, oh, privacy is dead. We don't have privacy anymore. But when you actually start talking to individuals about privacy, they really value it in lots of different ways. But I think one of the big problems is there's a disconnect between how the public thinks that privacy is viewed or valued and how the legal system actually values it. So overall, and we'll talk about the details, I'm sure, today, but the law is not very good at protecting health privacy. And so most notably, the law treats the privacy of health data and genetic data differently depending on if it's within clinical care, within a research setting, or within a commercial space. And so it's really hard for the public to see whether or not the protections match the values that they have for the privacy of their health information. Susanna Smith How would you describe Americans' relationship to privacy? Anya Prince I think that they value it. I also think that people are happy to share information, especially if they know how it might be used, or if they trust who they're sharing with. So on the one hand, you know, people use social media and post all sorts of things that could tell them about, you know, tell others publicly about their health information and so there's lots of ways where we're not as private about our health information as one might think. But there's also data that when you tell people that they might be part of a biobank, or you tell people that their genetic information has been commercialized. They're actually surprised about that and uncomfortable with that. And so I think we have a little bit of a both-and, right? In some ways people don't think about privacy on a regular basis. They just go through the world and social media and the internet without necessarily having that in the forefront. But when you start to ask people how they want their information to be used, I think we start to see more of those values coming in. Susanna Smith Yeah, and I think trust is a big part of it, right? Like, how private you want to keep information is often about how you trust whether it's going to be used in a way that might harm you. So how do you think about the importance of privacy and or data security when it comes to healthcare data versus genetic data specifically? Anya Prince So I think, so some argue that thinking about the privacy of genetic information or health information without thinking about just general privacy at large is exceptionalism that we should not think about health privacy or genetic privacy as anything different than just how do we protect data at large? Some people argue that, but I think it makes sense to think about the privacy of health data and the privacy of genetic data as more important or something that should be given extra consideration, both in the law and both by the public. Part of that is that your genomic data, your health data is incredibly valuable so there's, you know, most of the cybersecurity attacks and threats to data privacy come to hospitals and places that hold our health information because it's just valuable on the dark web. But it's also valuable for advertisers, right? If they know that you might have a predisposition to diabetes, they might try to sell you insulin pumps or healthier foods or whatever that is. And that could be really beneficial to a person, but it still means that somebody is leveraging your health data in certain ways. And for better or worse, I think people think about their healthcare and especially their genetic data or their genomic data as different than just general data, you know, especially genomic data. It's who we are. It's our blueprint. It ties us to our family members. And so I think people do think about the sharing of their genetic information in a much different way than other health data and other general data, and so therefore, I think about the importance of privacy and data security in that space as heightened since people tend to value the privacy of that information a little more. I also think, and this might complicate the picture a bit, but some of my other research is in how much we can infer private health information from other information. So let's say we say, Okay, I have a predisposition to colon cancer, and so I don't want my genetic information that that shows that predisposition to be sent around. Okay, well, that's really important to protect that privacy. But if I joined a Facebook group for the Lynch syndrome community or I did a bunch of Google searches or online searches for cancer predispositions, those things could also proxy for that information. So while I do think it's really important to keep genetic information more private, because like you said, you can't change it I also think it's really important for us to think about how much we need broad data protection to because of the ways that we interact with the world based on what we know about our health information. Susanna Smith Yeah, I think that's such a valuable point because we kind of, and even I do this sort of narrow in on certain data points as these are things I want to keep private, but I operate in a world, right? So I'm creating data all around me by my behaviors that is collectible, people can analyze it. Anya Prince I was just going to say, it might not be perfect, right? They might get it wrong like you know as a health privacy researcher who does not have a medical background, I search all sorts of diseases on Google, right, to try to just learn about the communities and the predispositions that I'm studying. And so an advertiser might think that I've ended up with 100 different conditions but there could be ways that they could identify it correctly. Susanna Smith Yeah. So, you opened with saying, some people say privacy is dead. It sounds like you don't totally believe that. I don't totally believe that, but what does privacy mean in a world where your genetic data, possibly your full genome, could be collected from your toothbrush and your genetic data can implicate others, namely people you're biologically related to. Anya Prince Yeah, so these examples do show ways in which it's really hard to completely insulate ourselves from intrusion upon our confidential information. But I agree with you that privacy still matters. There are some state laws that or some states have laws that are against what's called surreptitious testing so that collecting something from your toothbrush and sending it in for a testing lab. There are laws that help protect against that. But also, I think each time that anybody is able to successfully minimize the amount of data available about them, it minimizes their likelihood of harm. So even if it never completely ameliorates the harm that could come, I think privacy matters because it gives us some control and the ability to lower our risk of future harm that might come if somebody knows our information And it also just as you started off the podcast saying, I think it matters to give as much control as possible to somebody to say, this is how I want my data used. I think it's respectful. I think it it's just something that everybody should have as much as possible, even if it's harder and harder to gain in this complex world. Susanna Smith Yeah, I mean, my opinion and my view of it is that we're also only slowly creating those systems of control, right? That we started out decades ago collecting this data and then sort of in some ways backed into this idea of, oh, well, we should figure out some ways that you can control how your data is used. So it feels like there's a catch up that's happening societally of awareness of what data can tell us about a person and how that data might be used. And I'm talking even more broadly than healthcare and genetic data, but including that. Anya Prince Yeah, I think that's a really important point. Susanna Smith So you published this brief but really rich article with a co-author in JAMA called "Protecting Privacy When Genetic Databases Are Commercialized." In that article, you write that many people are unaware that their health or genetic data may be commercialized, whether it was collected when they were a patient, a research subject, or through some kind of direct to consumer testing. And then when people realize this, they're often uncomfortable. But this is long been the model, particularly for direct-to-consumer genetic testing companies. So how do you view this disconnect between what people think about the privacy that they have over their health and genetic data and how private their data actually is? Anya Prince Yeah, so I think this is really a confluence of three problems. So that's going to be a little bit longer of an explanation, but I want to walk through each of those problems because I think it goes to what you were saying of people playing catch up. So one, we have a system in this country where privacy rights, for the most part, especially outside of clinical care and outside of the research setting, is given through what we call notice and consent so those are if you download an app on your phone, they give you your privacy policy, and you say, yeah, yeah, yeah, of course I've read this and you click on it. And basically nobody actually reads those all, right? But that's notice and consent. We've given somebody notice of how their data is going to be used, and they consented to it, and then it's fair game. And that's such a problem because we know that people don't understand fully how their information can be shared, and yet we still have that as the legal basis for a lot of respecting privacy in this country. The second problem we have is that we've built a data economy. So there's the saying of, "If the product is free, you are not the customer, you are the product, right?" And so there's so much of that in our society now because companies are allowed to share people's data and sell people's data. Again, this is outside of the health care, healthcare and research setting space. But for the most part, we have companies that have built their business model over treating people's data as a monetary value. And then the third problem, I think, is that the law treats de-identified information differently than identifiable information. And here now I am talking about the research context and the healthcare context and the commercial context. And so there's a lot of sharing of our de-identified information that does not need people's consent, and that happens wildly. And on the one hand, that's great, because a lot of our research has happened because we can now study 1,000,000 people's genomes at once. The researcher doesn't know that it's Anya or Susanna's genomes, but it's, you know sample 1, 2, 3, 4, 5, and 1, 2, 3, 4, 6. But when it comes to genetic data, it's hard to completely de-identify it because it's unique to everybody. And I think people still might care about how their information is used to, you know, in ways, even if their name's not attached to it. So when you put all of those three systems in place, it really creates this disconnect where people might think that their health and genetic data is more protected. And in reality, they've often given away their rights of how their data is used. And then there's this monetary incentive for companies to run wild with it. Susanna Smith Yeah, I want to pause on two things you said there. One is this idea of what health data is collected when it's collected inside a healthcare system and possibly some of the same information could be collected direct to consumer and legally, how is that different? How is that treated differently? If I do it through a company versus I do it through a clinician and a hospital system? And then I just want to ask, what is your real opinion of "de-identified"—and I'm doing air quotes here—genetic data. Anya Prince Yeah, so the first one, so in the healthcare setting and health insurance setting, I should say, the health insurance portability and Accountability Act, or HIPAA, applies. So HIPAA has a privacy rule that really starts with the baseline of health information should not be shared unless and then there's some exceptions. And so if you go and get genetic testing with a genetic counselor in a clinic, then your information is protected in a much different way. But one of the exceptions of HIPAA is that if it's de-identified then the hospital or insurer doesn't need consent to further share it. But that has so much more protections than in the commercial space. So if you do direct to consumer genetic testing, HIPAA does not apply to those type of companies. And so really at the federal level, the only thing that applies in terms of privacy, is that whatever they say in their privacy policy, they have to follow, otherwise it's an unfair business practice. And so theoretically, I don't know of any companies that do this, but theoretically, the privacy policy could say, we are going to put your entire genome on the web for everybody to read, and you consent to that. Is that okay? And then if you click I agree, that's fine, right? So theoretically, they can say we could sell this for millions of dollars. You know, they could agree to sort of anything, or they could say that they're going to do anything. And as long as you click, I agree, right, and they abide by those terms of the privacy agreement that you agreed to it's really the Wild West at the federal level. Now, at the state level, some states are increasingly passing laws that give more protections to individuals. But that's the dichotomy in terms of healthcare and outside direct to consumer testing. In terms of what I think about de-identified there have been plenty of studies that show that that genetic sequences, raw genetic sequences, that have had people's names removed can be re-identified. And so just removing somebody's name is not enough to completely expel the risk. De-identifying genetic information lowers the risk. So would a pharmaceutical company that has a large database of hundreds of thousands of genetic sequences really go back and find one particular persons and re-identify particular persons. No, I think that's relatively low risk. But it is interesting that we've created laws that treat these information differently, whether it's identifiable or de-identifiable without really grappling about what that means in the context of genetic information Susanna Smith Yeah, and I think I want to pause on this point because I think the reality is the science has changed, right? And so the laws were formulated around this idea that that if you strip personal information out of it, we're protecting people's privacy. And then the science advanced to the point where we can go back and do the work to identify. And so I think it's just this place, and it exists in other places, where the current legal protections don't reflect our current scientific understanding of what we know about DNA. Anya Prince Yeah, and I think this to not make this exceptional about DNA, I think this is a problem for all data, right? There have been studies, there's a <a href= "https://www.hks.harvard.edu/faculty/latanya-sweeney">computer scientist named Sweeney</a>, her last name's Sweeney, and <a href= "https://news.harvard.edu/gazette/story/2011/10/youre-not-so-anonymous/"> she's done studies showing</a> that you can identify individual people with it's something like age, zip code, and gender, right? You can identify like almost everybody, I don't know, it's upwards 80, 90% in the study of people in the US, just based on those 3 things alone, right? Because if you think about it, how many people in one zip code have the exact same birth date? You really start to narrow very quickly, and so then, if you think about all the data crumbs we're leaving everywhere, it becomes pretty easy pretty quickly to put together different data points about people. So I think this is something that the law and society will have to grapple with, not just in genetics, but in just big data and algorithms in general. Susanna Smith Yeah, I totally agree with you. And I don't want to go down the entire dystopian path of like the reality we're living in currently of how that data could be used, but I think it's a great point. We're really lacking in both data privacy protections and data security protections, but I would also say public education around what people understand about what data is being collected on them regularly, and the current uses and the potential uses. Anya Prince Yeah, and I think that that current use versus potential is so important to you, right? I came back to… I still think it makes sense. I mean, I still think it's a good thing that when people share information, they de-identify it, right? If a direct-to-consumer company is sharing with a pharmaceutical company, great to de-identify, because that lowers the privacy risks. So again, I go back to, sure, we could go down the dystopic path and have all sorts of scary scenarios, but in reality, right now the motivations to re-identify large data set, I don't know, what would they actually be? So is it theoretically possible? Sure. But does it minimize the risk? And really, you know a pressing risk at this moment? No, I think there's other pressing risks in terms of privacy that we might want to tackle first. Susanna Smith What would you see those as being? What do you think are the most pressing risks in the privacy world around healthcare and genetic data? Anya Prince So one is the disconnect, right? I think we should make sure that and by that I mean the disconnect between how people think their health privacy is protected broadly and how it actually is. And so I think one of the largest ones is the fact that outside the healthcare setting health information, the exact same health information, is protected in a different way. And so that's that's one that I think would be important to do. This is outside the privacy space but I think another piece is how the information is used, right? So another part of my research is discrimination, and I think privacy and discrimination go hand in hand because one of the big concerns about not having your privacy protected is the risk of discrimination. So I think then shoring up anti-discrimination laws is also helpful. But from this privacy perspective, I think the privacy laws are just as important, if not more, because the best way to prevent discrimination is to stop the person from having the information with which to discriminate. And so both of those would be things that I would try to tackle. Susanna Smith I want to pause here and just have you say a bit about where we are on anti-discrimination laws, particularly around genetic information in this country. I've talked about in other episodes, sort of the federal law, GINA, and the loopholes in the law, but I think it's also really important to stress, particularly for practicing clinicians, that the protections are different state to state, and it depends what state you're practicing in. So could you just expand upon that a little bit with clinicians in mind? Anya Prince The Genetic Information Non-discrimination Act (GINA) prohibits health insurers and employers from using genetic information but it doesn't cover other any entities. So the main ones that are talked about as not being protected at the federal level are life, long-term care and disability insurers. And so at the federal level, a life insurer or any of those other insurers could take somebody's genetic information and say, we're not going to insure you, or we're going to charge you a higher premium because of your genetic test results. At the state level, there are some states that have provided protection. For example, the one that has protected all three is Florida now prohibits life, long-term care, and disability insurers from using genetic information for any insurance purpose whatsoever, right? And I think the language of the law is any insurance purpose. And so that's the most protective one. But there are some other protections that create a patchwork across the country. For anybody, clinicians or patients, I actually recently collaborated with a researcher from the University of Maryland School of Law who does <a href= "https://www.wired.com/story/police-used-a-babys-dna-to-investigate-its-father-for-a-crime/"> research in law enforcement's use of genetics</a>. We've created a website that maps out the state laws regarding life, long-term care, and disability insurance, as well as the state laws that regulate life insurer use of genetic information. So you could check those out to see what the legal protections are in your state. Susanna Smith That website, for anyone listening who'd like to check it out is <a href= "http://geneticprivacy.lib.uiowa.edu/">geneticprivacy.lib.uiowa.edu</a> and we'll put a link to that in our show notes. So thinking about this disconnect that you mentioned, how do you think people and clinicians should think about both the privacy and profit motives when they're either deciding to undergo or they're recommending genetic testing or genomic sequencing, like, how should we shift our mindset around what that choice is? Anya Prince I think this is a really hard one in practice because there's a balance between access and cost and privacy. And so sometimes I think the benefits of access are greater than the privacy risks. And so I know I've heard from people where a genetic counselor, for example, might say, well, you could do this test in the clinic, but it's going to cost X amount of dollars. But if you go and get this test outside the clinic, it will be cheaper, right? And so, I don't think that those are bad things to recommend, but I do think that patients should know that they're balancing privacy and cost in that case. So I think it's just really important for clinicians and researchers or clinicians when they're talking to patients to be open about that and to also understand what the protections are. And it gets complicated quite fast, because there can be an outside genetic testing company that's what's called a business associate of a hospital, and if they're a business associate, then they do fall under HIPAA and so the lines get blurry quickly. But I think clinicians should understand what laws might apply, what privacy laws might apply, and just be upfront with that with their patients. I also think in terms of researchers thinking about this I would encourage researchers to have a little bit of self-reflection, right? We talked about how de-identifying genetic information allows broader sharing. Really, researchers love this because it allows them to create large databases of hundreds of thousands or millions of participants and really do groundbreaking research But there also could be researchers who care about their research participants' privacy. And so I think there's a little bit of tension between making research easier and faster and also respecting people's privacy and allowing getting more specific informed consent. And so I think members of the research community sometimes push more towards the efficiency of their research than necessarily asking each individual person for consent for every study, because that would take a long time. Susanna Smith I think when researchers fail to really understand how people value data privacy, and I think increasingly, the public is waking up to what is data privacy and how data is being collected on them and how they feel about that, I think researchers sometimes struggle to enroll people because they haven't really engaged with how people want their data to be used, and possibly they don't engage in studies because it's being used in ways they don't agree with. Anya Prince There are… I think there are more and more people who care very deeply about privacy. I think there's a lot of people who are more comfortable with sharing a broader amount of things. And so I think it's very easy for researchers to say well, we aren't going to give those options, right? Because it's only, you know, quote unquote a small percentage of people who might… who might want those broader protections. But then I think you have to start thinking about how that might be biasing your sample or just disrespecting a small but hopefully growing segment of the population that do care more deeply about these issues. But again, it's that adds complexity and work to, you know, researchers' lives to create those different ways of going through the process. And so I think there's a tendency when with really busy people who, you know, want to do the best science and get the results and have pressures to get results more quickly to just say, oh, it's only a handful of people. And I just, I think that's disconcerting, right? I think it's… I think I would encourage researchers to think, how can we be privacy maximizing and choice maximizing? Because everybody's different in how they think about their data. Susanna Smith I agree with that, and I think it doesn't anticipate the potential of a cultural shift, right? Because as people see ways their data could be used that they may not judge as in their best interest. There could definitely be a pushback. Susanna Smith So I wanna turn a little bit. It may tie into this to direct-to-consumer genetic testing, which we've seen now an estimated 20% of adults in the US have participated in but it's stagnated, right? So people are not continuing to purchase genetic test kits at the rate that they once were. And some of that may be privacy concerns. But once you do a test kit and your genetic data lives in a database, it's owned by that company or its successors, unless you intentionally take the steps to remove it, which most people don't do. So, what are some of the ways that data could be used? And let's talk from the most altruistic to the commercial to potentially nefarious applications. Anya Prince Yeah, so the most altruistic version of what companies can do with the databases, one, of course, is returning services to the customers. So you want to learn about your ancestry, we're going to return that. If you want to learn about health information, we'll return that, maybe continuing to update as we learn more about variants of uncertain significance, for example, updating those resources. So that's one altruistic or maybe just business model way. There's also, as I've talked about, medical research or pharmaceutical advances. So for example, we can talk about one of the largest direct to consumer genetic testing companies, 23andMe. They've had multiple agreements with pharmaceutical companies like GlaxoSmithKline to look at millions of people's DNA that have that adopted into the research arm of 23andMe. And the hope would be to come up with really important pharmaceutical advances when we're pooling all of this data. I've also mentioned some of the commercial uses of genetic information. So this could be advertising, right, targeted advertising to people. And some people see that as really helpful, and some people see that as maybe more coercive or problematic, or invasive. I think that just might be in the eye of the beholder, or possibly in the eye of who's doing the advertising and what they're advertising. And then potentially more nefarious or problematic, and there's different opinions on these, but we mentioned, you know, insurance companies, theoretically, an insurance company could use large-scale genetic data to try to map actuarial results. And so by that I mean who are the populations that do cost more to a life insurance company or do cost more to a disability income insurance company? And then using that information in their underwriting. Law enforcement has access direct-to-consumer genetic testing in various ways to try to identify either a perpetrator of a crime or their family member, right? A partial match in order to narrow down suspects in a crime, and that's quite controversial. Some people are more happy with that use than others. And, you know, and going down the… again, we can go down more and more dystopic versions, but also looking at 23andMe, there was a hack of 23andMe back in 2023, and there's evidence that the information that was sought was targeting people with Ashkenazi Jewish ethnicity and Chinese ancestries. And so you know, that gets into more and more problematic potential uses when it's really targeting groups of people in ways that could be ripe for discrimination or stigmatization. Susanna Smith Yeah, and I mean, that hack I find so disturbing. I think it's important to pause there and just, what I kind of say to myself is, we're not envisioning the potential future. This is actually something that has happened. It has already happened. So... Anya Prince Yeah. Susanna Smith So I want to talk about one thing you mentioned in your article about the Coalition for Genetic Data Protection. Could you just talk a little bit about what is the Coalition for Genetic Data Protection? And then what is this model law that they have put forth. Anya Prince So there's a model law, and what a model law means is it's usually an organization that creates a blueprint of a law, and then they lobby states to pass the law, and that's really helpful for state legislatures to, you know, take something already written and then put it into their bill, and then if it's passed into their statutes. And so what it means is that you see sort of copycat versions of the law that are very, very similar across multiple states. And so there's a model law called the Genetic Information Privacy Act that has now been passed in I think 13 to 15 states it was introduced in a couple of states this year as well. So I don't know this past year. So I don't know the exact number, but it's a pretty large handful of states that have passed this law. This gives privacy rights to customers of commercial genetic databases so these direct to consumer genetic testing companies. But what's fascinating about it is this coalition that you mentioned that's pushing for these laws is actually made up of two companies, 23andMe and Ancestry. So the two largest direct to consumer testing companies are pushing for laws that regulate how they protect consumer privacy. And the laws do give some really good, sensible privacy protections. So it gives the right to delete your genetic information from a database. It requires law enforcement to have some sort of judicial agreement like a warrant in order to access genetic information in the database. So they can't just informally call up the company and say, hey, can we do a quick search for X, Y, and Z genetic sequence? And it requires some data security protocols. So that's all great. But from my perspective, there could be probably some greater privacy protections that we might want but the companies that are lobbying for this also have an interest to not be overly protective of privacy so that they can do, you know, have their business model, which is all about sharing genetic information. Susanna Smith So from the perspective of consumer privacy protections and protecting people versus companies, what do you think that the model law is missing? What would you add if you had a wand and could just add it in there? Anya Prince So a couple of things, and I'll just give some examples. I mean, we could have, you know, a multiple hour conversation about all the different ways we could have, but just a couple of examples. So the model law says a direct to consumer genetic testing company won't share genetic information with life, long-term care, or disability insurers without written informed consent. Okay, that sounds good. But when you think about the power dynamics, if a life insurance company says, hey, we're going to collect your genetic information from a direct to consumer testing company, Do you consent? The consumer could say no, and then the life insurance company can say, great, we are not going to insure you or not going to further look at your application. And so consent is important, but it doesn't really give you much power when you're dealing with large companies like life insurance company. And so California, for example, when they passed the model law, they made a change and it just says direct to consumer genetic testing companies won't share genetic data with lifelong-term care and disability insurance companies. They just got rid of the consent part and said, you just don't share it at all, full stop. And so that's a version that is a stronger protection. Protections that people have, but again, they click, I agree when they do the DTC testing without necessarily actually reading the privacy policies. So one version of the Genetic Information Privacy Act could be greater requirements to get the information in front of consumers before they agree to have them really understand what sort of sharing could happen so have more overt opt-in. Susanna Smith Yeah, no, I think those are great, and I think it's why I keep circling back to the topic of privacy and discrimination. And, you know, I've got skin in the game around all of those issues, but I think my personal scenario is very telling or it's like a canary-in-the-coal-mine type situation for what I think applies to lots and lots of people. But from my perspective, many consumers, people, and a lot of clinicians don't fully understand that. And actually, that's what your survey research shows. So when you think about healthcare data privacy and how it's approached in the United States today compared to other countries, where do you think the U.S. needs to go, and why does it matter? Anya Prince Yeah, so I think a couple of things. One, I think as we talked about more in the beginning, I think the US needs a broad general data protection law and to not, you know, that would help depending on how strongly it's written, that would help some of these concerns about how there's great federal protections for the direct to consumer or the health information that's outside the healthcare setting. And so I think that's one thing we need to do within that. I think there's a couple principles that would be really helpful to move towards. So one is this idea of data minimization. And so this is a principle that shows up in regulation in Europe. But data minimization is just the idea that companies or data collectors should only be allowed to collect and keep the data, like the minimum amount of data necessary to do its purpose. So this is outside the genetic context, but one that comes to mind. There was a flashlight app that turned on the flashlight on your phone. That was the sole purpose of the app, and it collected your geolocation data, right? There's no reason that a flashlight app needs to know where you are when you're turning on and off your flashlight, right? So that's the idea of data minimization is don't let companies collect more than they actually need. And I think this is more and more difficult thing to push against in an era of AI and algorithms, because AI is going to want more and more data, right? Companies are going to think, oh, if I get more and more data, maybe we'll come up with, you know, some new thing. So I think it's really important to keep data minimization in mind. And the other thing I think is we need to move away from this idea of notice and consent, that if we just put a complex, long privacy agreement in front of somebody, and they click yes, then we're going to pretend that they actually have read it, and can digest it easily. And that's not to say that that's a problem from the consumers, right? There's studies that it would take like days to read through all of the privacy agreements that are put in front of us. So I think there needs to be a move away from notice and consent to more protective models from the outset. Susanna Smith Yeah, I think that's a great point. And then you're constantly getting the notices from companies that their privacy policy has changed. So it's like, I didn't read it the first time. I'm not reading it the second, third, and fourth time either. Anya Prince Yeah, well, and even so, you know, I do sometimes click on those as a privacy scholar and they don't tell you how it's changed. So when you do click on that privacy update, it just gives you the new privacy thing. So then you have to go back and, like, compare, like, I download them and put them into Word documents and then do a cross-compare to see even what changed. And sometimes it's like the address that you're supposed to contact, and sometimes it's a more major thing. But there's not necessarily flashing lights that says, here's what we're doing. Susanna Smith Yeah, I absolutely agree with you. Well, thank you, Professor Prince, for joining me today on Genetic Frontiers. Anya Prince Yeah, my pleasure. Susanna Smith Genetic Frontiers is co-produced by Brandi Mello and by me, Susanna Smith. Music is by Edward Giordano and design by Abhinav Chauhan and Julie Weinstein Thank you for listening to this episode of Genetic Frontiers. Connect with us at geneticfrontiers.org or on Instagram and LinkedIn at Genetic Frontiers to continue the conversation.

April 21, 2026

Sex Testing in Sports: Bias & the Science of Genetic Variation

A conversation with Shoumita Dasgupta, PhD, a geneticist, anti-racism educator, and the author of <a href= "https://www.ucpress.edu/books/where-biology-ends-and-bias-begins/paper"> Where Biology Ends and Bias Begins: Lessons on Belonging from Our DNA</a> about transgender athletes in women's sports, the science of human genetic variation, and the relationship between our genetics and our sex, gender, race, and identity. EPISODE TRANSCRIPT Susanna Smith Hi everyone. This is Genetic Frontiers. A podcast about the promise, power and perils of genetic information find us wherever podcasts are found and go to <a href= "http://geneticfrontiers.org/">geneticfrontiers.org</a> to join the conversation about how genetic discoveries are propelling new personalized medical treatments, but also posing ethical dilemmas and emotional quandaries. I'm your host, Susanna Smith. On today's episode, I will be talking with Dr. Shoumita Dasgupta, PhD, who is a Professor of Medicine and Assistant Dean for Diversity and Inclusion at Boston University. Professor Dasgupta is a geneticist by training, and she is an internationally recognized anti-racism educator and the author of a new book, <a href= "https://www.ucpress.edu/books/where-biology-ends-and-bias-begins/paper"> Where Biology Ends and Bias Begins: Lessons on Belonging from Our DNA.</a> In this book, Professor Dasgupta tackles a number of really big subjects, including the relationships we derive between our DNA and aspects of our identity, such as our race or ethnicity, our sex, gender, or sexual orientation and our understandings of genetic difference and disability. She digs into what is actually known about the inner workings of our bodies and our genetics versus the stories we, as humans, have created to make meaning of our DNA for ourselves. Many of the stories we tell ourselves are detached from the realities of what scientists have learned about human biology. Often these stories are laced with bias and grounded consciously or subconsciously in the idea that human beings can be categorized, organized, understood, and assigned value based on aspects of our biology. It's an overly simplistic idea, but it's foundational to how the United States was built, and how this country and many others continue to operate. What scientists have found over the last century is that human biology exists on a wide spectrum of diversity, plurality, and complexity that we are only now beginning to understand. Human beings aren't easily categorized or understood through their DNA. What Professor Dasgupta offers in Where Biology Ends and Bias Begins is a guide and a challenge to everyone who wants to dig into how our understanding—and misunderstandings—about human genetics shape how we see ourselves and other people. Thank you, Professor Dasgupta, for joining me today on Genetic Frontiers. Shoumita Dasgupta Thank you so much, Susanna. It's my pleasure to be here with you today. Susanna Smith So I want to start with a topic that is very much in the news and the political crossfire today, and has been a hot-button topic in the United States for a long time, which is transgender athletes in women's sports. In your book, you give a bit of history about how, before genetic testing, women athletes were made to parade themselves, their bodies were certain of their femaleness by viewing, and then only after were they allowed to compete in women's sports. Then in the early to mid-1980s, various forms of chromosomal analysis started to be used in athletics, and in some cases turned out unexpected results. And in the book, you write about a particular athlete, Maria José Martínez Patiño, who was the Spanish national champion in hurdles in the 1980s, and went on to compete internationally. Could you share a bit of Maria's story with our listeners? Shoumita Dasgupta Absolutely, I'd be delighted to. Maria José Martínez Patiño was a track and field athlete. And when she was competing, there were a variety of different sex-based tests that they did to determine eligibility of athletes. And so, in this testing, there was really a major conflation between sex and gender, so it's somewhat helpful to understand the difference between the two. Sex has to do with the biology of one's body. You know, what's in your DNA? What organs do you have? What sex hormones are circulating through your system? And it turns out that sex is typically assigned at birth, based entirely on external anatomy. So, this particular way of determining sex just really doesn't kind of capture the overall complexity of the spectrum of sex, and the fact that sex is not binary, it's not simply male or female, but there are many, many intersex people on the planet as well. Then there's gender. And gender has to do more with, you know, who you identify with in your heart and in your mind. Do you feel like a boy, a girl, a man, a woman, a mix, or none of the above? That has to do with what gender is. And sexual orientation is an entirely different category, which has to do with who you are attracted to and who you love. Now, in sport, there's a real fixation on binary categorization. The competitive categories tend to be men's sport and women's sport, which are gender designations, but the idea behind it is that there may be biological advantage to having been exposed to certain sex hormones, for instance, during development. So that's really to do with sex, not gender. When Maria José Martínez Patiño was competing, she had to go through these sex tests, many of which were focused on her chromosomal makeup. So what tends to typically happen is that males typically have XY chromosomes, and females typically have XX chromosomes. When she was first competing, she passed these tests and was given a certificate of femininity, as it was called at the time. But then when she went on to compete in a subsequent competition, she didn't have her certificate with her, so she had to go through a retest. The retest indicated that she did not have two X chromosomes, which is what the previous test had said. So her test had to be repeated. And this was, you know, kind of humiliating, or at least it called a lot of attention to her, and so she faked an injury to just kind of be out of the limelight while all of this was happening. Once the results came back, it actually showed that she had XY chromosomes, which are more typically associated with male development. If we dig deeper, though, what we found in the case of her own health was that she had androgen insensitivity syndrome. What that refers to is testosterone, which is an androgen, requires different kinds of biological components to elicit a response in human development. She didn't have those components, so she was not responsive to any testosterone in her system, even though she had XY sex chromosomes. Because she was unresponsive to testosterone, her body developed in the typical female fashion. She developed breasts and a vagina, and she identified as a woman in terms of her gender. Probably, if you really think about it, she was likely at a disadvantage compared to other women in her competitive category, and that's because testosterone is present in females and males. So typical females will have the ability to respond to testosterone, whereas she did not. So you could say that she was at a disadvantage. Nevertheless, because she didn't pass this repeat testing, it turns out that she was disqualified from further participation. That disqualification led to her losing her scholarship, her housing in the athletes' residences, her fiancé, her life just was completely blown up. And she, you know, to her credit, really took this as a call to action to work on behalf of other athletes who have different sorts of intersex characteristics and to really to fight and advocate for people to be able to compete in sport, regardless of, you know, kind of not fitting into the typical categorizations. Susanna Smith So, I want to back up to something I understood from the book, which was that Maria didn't have any questions about her sex or her gender when she walked into these competitions. And also just to clarify for our listeners, the testing Maria underwent to receive this certificate of femininity was applied to all female athletes, it wasn't because she was different. This was every female athlete underwent this testing. So could you just clarify that point? But also what did Maria know when she walked into these competitions? Shoumita Dasgupta That's a great question and a really important point. It's notable that they engaged in this sort of sex testing or gender testing, depending on their framing, only for women athletes. There's no similar process in place for men athletes. So this was already, you know, kind of a process that has misogyny baked into it. As you said, she didn't have any suspicion or reason to believe that she was anything other than a typical cisgender woman. These tests often will unearth facts about people's identity that they themselves were unaware of. When I said that sex is often assigned at birth. That really means that a lot of differences or variations in sex development are not actually identified until later on. Sometimes that can happen at puberty. Sometimes that can happen in the context of sport testing. Sometimes that can happen when people are trying to have children. So in Maria's case, you're right, she didn't know at all that this result was potentially in the cards. Susanna Smith Yeah, and I think one important point to point out is sometimes that could never be identified, right? Like in Maria's case, it was identified because she was this elite athlete who had to undergo this testing or that's what the sport required. But there's a possibility you could walk through your entire life and not be aware that your chromosomes don't align with your sex identity or your gender. Shoumita Dasgupta That's absolutely true. Another thing that is maybe worth thinking about is how common these intersex identities actually are in the population. Some estimates I've read place this at about 1.7% of the population, which is roughly the same as the percent of people who are redheads. And we all know redheads, which means we all know intersex people as well. Susanna Smith So for someone who is not a geneticist like you are, or who doesn't necessarily have a science background, could you give us some examples of different forms of non-binary sex? The different ways that can exist like chromosomal and hormonal, and you kind of go through some of that in the book. Shoumita Dasgupta Sure, absolutely. I like to try to think about three main aspects of sex. Chromosomal sex, to do with the presence or absence of X and Y chromosomes, then there's gonadal sex, which is, you know, the reproductive organs that also produce the sex hormones, the sex hormones then drive development of the body. And the body can include secondary sex characteristics that are visible externally. And that would be, like, development of breasts, vagina, penis, other kinds of anatomy along those lines. So when it comes to intersex identities, what you see is that the typical flow from, for instance, XX chromosomes to ovaries to estrogen to breasts and uterus and vagina, it doesn't happen in that kind of regimented pathway. As we talked about as well with Maria José Martínez Patiño, in her case she had XY chromosomes, which tend to be aligned with testes that develop testosterone, and then the body responds to presence of testosterone in developing a penis, for instance. And in her case, even though she had XY sex chromosomes and was able to produce testosterone from her testes, you were not able, or her body was not able to actually respond to the presence of that testosterone. So her anatomical development was somewhat more aligned with female development. And what happens with intersex folks is that you have some aspects of female development, and some aspects of male development, and sometimes things are somewhat in between. You can't really ascribe either male or female developmental attributes to either. So you might see, for instance, the presence of intermediate gonads, and that's one of the characteristics that contributes to people being identified when they're trying to have children. So if they have intermediate gonads, they might not be able to produce sex cells. They might not be able to produce sperm or eggs. So this is one point in time when people who are intersex do get identified. Susanna Smith Can you clarify what are intermediate gonads? Shoumita Dasgupta Intermediate gonads are not quite ovaries and not quite testes, so they don't produce the typical sex cells of ova and sperm. Susanna Smith And are they internal? Shoumita Dasgupta They are internal, typically. Susanna Smith So they wouldn't even be visible, someone might not know they have these. Shoumita Dasgupta Absolutely, and so that's why it might not come up until, you know, the third decade of life, or even later. Susanna Smith Yeah, and that kind of brings me to the question of what I wanted to ask next, which was, what has studying biology and gender, and specifically in this case the idea that we can do chromosomal analysis and genetic testing, what has that actually taught us about what is sex, gender, and also this other side of sexual orientation? Shoumita Dasgupta That's a great question, and I think the answer is actually even broader than sex, gender, or sexual orientation. What science has clearly shown us is that there aren't discrete categories. There is a ton of overlap. That variation is incredibly continuous. We don't have a binary sex designation. We also don't have a binary gender designation. And there's many, many varieties of sexual orientation well beyond the heteronormative framing that most of the world uses. So using science, we can really see that variation is continuous across populations. We can't draw a line that clearly separates one group from another group. And that applies to, as I was kind of alluding to, not just sex, gender, sexual orientation, but it applies to all the kinds of categories and labels we use. It applies to disability, it applies to race, ethnicity, and ancestry, you know, so just understanding what our DNA tells us is actually the story that we are much more alike than we are different. That we're all part of this amazing spectrum of human identity. Susanna Smith Yeah, and I think that's what creates this inherent tension, right? It's the reality of how human beings exist is on a spectrum, a variety across many different types of characteristics. And yet, a lot of people want to fit us into boxes. We want to fit ourselves into boxes, and we want to fit neatly but that isn't aligned with how people actually develop. So I want to turn now to the backdrop of the conversation we're having, which is that this conversation exists in a world where the administration running the United States has made political statements like: there will only be two genders. And the United States Supreme Court is expected to rule this spring on two cases involving transgender girls and women in sports. And meanwhile, the Olympic Committee has recently stated that women athletes who do not pass a gene screening test, presumably seeking to affirm their XX chromosome status, will not be allowed to participate in women's sports, which is effectively a ban on many transgender athletes. So, from the perspective of biology and some of the aspects we've been talking about around biology and sex, how do you think about transgender athletes and women's sports, and this idea around competition? Shoumita Dasgupta That's a great question, and I really I find the language used by the administration about restoring truth to the biological identity or some such language around understanding what sex is to be highly, highly harmful. And… simply untrue. When we look at the biology of sex, as I kind of alluded to earlier, we see that there is a spectrum of sex. And when we think about trans athletes, and this is a term we haven't identified yet, so let me just pause and actually kind of break down what we mean by trans athletes, somebody who's transgender. I said that gender identity has to do with who you feel you are in your heart and your mind. So somebody who's transgender has a gender identity that is slightly different from the typical one that might be predicted by your biology. So if your sex is female but you identify as a man, he would be a trans man. And trans women are frequently sort of the target of a lot of ire in the context of sport. And that's because trans women have bodies that are somewhat or fully male, depending on their own developmental program and whether they've not gone through gender-affirming care. So depending on the sport, some sports may actually find that if you've gone through puberty and been exposed to testosterone during that period of puberty, you might have increased lung capacity, you might have greater height. You might have certain physical attributes that could be an advantage. But that certainly doesn't mean that all trans women have gone through a development that gives them those advantages. The science behind it is really not at all as well-developed as the science that looks at exogenous testosterone use. That's doping, right? And also, it's very sport-dependent, you know, separating people by categories, whether you use the framing of sex, male and female, or the framing of gender, men and women, doesn't always turn out to be particularly relevant based on the sport. For example, maybe some sports would do better instead of using sex or gender-based categorizations of play, what if they used weight categories, or height categories, or something entirely different? Then that would be based, actually, in the reality of their bodies, and it wouldn't have all these harms associated with it. Susanna Smith Yeah, I think it's such a great point. One of the things I often come to when I'm sort of wrestling with this in my brain is there are a lot of aspects of any human's biology that could give them advantage or disadvantage in any given sport, right? But the one we're talking about is these ideas of sex and gender. But it could be, like, foot flexibility or shoulder movement, you know, any of these are things that might be coded in your DNA and give you unique advantage in a particular realm. And we don't pick those apart, right? Shoumita Dasgupta That is so true. One example that always comes to mind is there was a Scandinavian cross-country skier, who had a naturally occurring variation that allowed him to produce extra red blood cells. Red blood cells carry oxygen. In competing in cross-country skiing, the fact that he had this increased oxygen capacity was actually advantageous for him. And in fact, he produced so many red blood cells that his typically pale skin actually showed up as sort of reddish-purple because he had so much extra red blood cells. And, you know, there is a form of doping that involves increasing your red blood cell production, or even giving yourself your own red blood cells in excess before competition. But because his was a naturally occurring variant that's not, you know, policed, or it didn't disqualify him from competition. So, there are many examples like that where naturally occurring variation is present and can give people an advantage. But it is just part of the overall scope. I mean, that's one variable: your biological variation. But there's also your training, your coaches, your nutrition, your grit, your psychology, you know, there's so many aspects to competition, and biology is just one of them. Susanna Smith Right. I mean, I think that's the other point I come to, which is that becoming an elite athlete requires, of course, some aspect of talent, and some, probably, aspect of biological ability. Like, I am 5'1" I'm never gonna play in the women's NBA. Like, that's just not gonna happen, right? But it also requires all the other things elite athletes do on a daily basis, year -over-year-over-year to arrive at where they are. And so any sort of biological advantage is never enough. Shoumita Dasgupta That's absolutely true, and I think excluding trans women from sports, it has the harm of, first of all, equating whatever happened during your development with a certain outcome. So, you know, if that was the case, you could just maybe take people's measurements of testosterone in their circulating blood, and just kind of not do the competition at all and just say who wins and who doesn't. But that's obviously not how sport works. And when you exclude trans women from sport, I often think particularly about young people, who are trying to figure out what their identity is, who are looking for supportive communities, who are also looking for opportunities for leadership, and a sense of belonging that comes with competing, particularly in team sports. And we're really risking their mental health, risking their lives by, you know, creating a situation where they can't compete in these environments. Susanna Smith Yeah, they can't participate even, right? I mean, if you just draw these lines, and that… yeah, it's very harmful. Susanna Smith And since Professor Dasgupta and I sat down to record this conversation, some big things have happened in global conversation about transgender athletes in women's sports. As I alluded to earlier, the <a href= "https://www.olympics.com/ioc/news/international-olympic-committee-announces-new-policy-on-the-protection-of-the-female-women-s-category-in-olympic-sport"> Olympic Committee released a new policy in March 2026</a>. That policy states that all people seeking to compete in girls' and women's sports in the many national, regional, and international competitions related to the Olympics must undergo genetic testing for the SRY gene. SRY gene is often—but not always—present on the Y chromosome. And in typically developing males the presence of the SRY gene can be an indicator of male sex. As we've discussed in this interview, sex exists on a continuum and encompasses more than just our chromosomes or our genes. The Olympic Committee has called their own policy "evidence-based and expert-informed" but they fail to cite the specific evidence or experts that informed the policy. The <a href= "https://www.ohchr.org/sites/default/files/documents/issues/discrimination/260225-joint-statement-on-fairness-inclusion-and-non-discrimination-in-sport.pdf"> UN High Commissioner for Human Rights,</a> <a href= "https://www.unwomen.org/en/news/stories/2019/5/statement-by-un-women-on-discrimination-against-female-athletes#:~:text=UN%20Women%20expresses%20its%20strong,Women%20and%20Girls%20in%20Sport'.">UN Women</a> have condemned sex testing and earlier requirements for women athletes to medically alter naturally occurring hormones. The <a href= "https://www.ama-assn.org/press-center/ama-press-releases/ama-opposes-gender-based-medical-treatments-alter-athletic-ability%20https:/ilga.org/news/olympics-sex-testing-harms-women-girls/">Sport & Rights Alliance</a> along with more than 100 organizations have denounced the Olympic Committee's policy, which is effectively a ban on most transgender athletes in girls' and women's Olympic sports. The European Society of Human Genetics has called for more geneticists to be involved in the conversation. Dr. Andrew Sinclair, a renown molecular geneticist, who discovered the SRY gene has spoken out against the Olympic Committee's new policy. Dr. Sinclair along with a working group of genetics experts co-authored a statement from the <a href= "https://hgsa.org.au/common/Uploaded%20files/Position%20Statements/HGSA%20Position%20statement%20SRY%20gene%20testing%20in%20female%20athletes%2029%20August%202025.pdf"> Human Genetic Society of Australia</a> calling on World Athletics and all sporting governing bodies to: <div> · "Immediately suspend the use of SRY gene testing as a criterion for eligibility in the female category · Acknowledge the complexity of [ sex ] and the limitations of relying on genetic markers as simple proxies · Guarantee that any medical or genetic evaluations conducted in sport are voluntary, evidence-based, respectful of privacy, and supported by appropriate genetic counselling." </div> They go to say that they firmly oppose the misuse of genetic testing as a tool of exclusion and advocate for sporting environments that are: <div> · "Informed by rigorous science rather than reductionist assumptions · Guided by international ethical and human rights principles · Committed to fairness, inclusivity, and respect for all athletes." </div> This issue remains front and center in the United States. Because in May 2026, the U.S. Supreme Court is expected to rule in two cases <a href= "https://www.aclu.org/press-releases/supreme-court-concludes-oral-arguments-in-historic-transgender-rights-hearing"> Little v. Hecox and West Virginia v. B.P.J</a>. Those cases are likely to decide whether states can ban transgender student-athletes from girl's and women's school sports. As of the recording of this podcast, professional genetics organization in the United States have not released statements on the Olympic Committee's policy or the use of genetic testing in girl's and women's sports. It bears repeating in my opinion that the Olympic Committee has stated that all people seeking to compete in girls' and women's sports in the Olympics-related competitions will be required to undergo genetic testing—whether they like it or not. I am left wondering why professional genetics organizations in the US like the National Society of Genetic Counselors, American Society of Human Genetics, American College of Medical Genetics and Genomics, have made no statements about this policy of compulsory genetic testing and using genetic information as the basis of discrimination and exclusion? So, I'll leave with you as food for thought. And we'll return now to our interview with Professor Shoumita Dasgupta. Susanna Smith So I want to shift gears a bit and explore the relationship between genetics, ancestry, race, and ethnicity, which you also talk about in the book. It's something like 20% of American adults now have done direct-to-consumer genetic testing. These tests give people information on their genetic ancestry or the parts of the globe their DNA suggests their ancestors came from. But from your perspective as a geneticist, how do you describe the relationship between our DNA, race, ethnicity, and geographic ancestry? Shoumita Dasgupta That's a great question, and I think this is another area in which kind of definitions and framing is helpful. So, when we think about race, we often think about a group ascribed, or an identity ascribed based on external features of one's body that typically has to do with skin tone and hair texture, features like that. Ethnicity is more cultural, cultural in terms of language, religion, foods, holidays, all these kinds of things. And ancestry is actually, you know, who your ancestors were, and who you're related to, where your DNA came from. So geographic ancestry means kind of going back a few generations and figuring out who your forebearers were and where they came from on the planet. So there is some overlap between these categories. Because, you know, if your forebearers came from a certain continent where there was increased exposure to the sun, you were close to the equator, you may have darker skin tones, typically, in the population. But there's no kind of single skin tone, for instance, that's present within a certain race, and then a line that you draw and a different skin tone in another race. There's a ton of overlap there. Ethnicity is also something that can be passed down within families, and that's also impacted by events in history, including harmful events, like the transatlantic migration part of the slave trade. And that forced migration resulted in, you know, some of the aspects of ethnicity actually populating new portions of the globe as well. And ancestry, as you pointed out, people are now starting to learn about that a bit more by doing these DNA-based tests. This is such an interesting thing, because a lot of the tests are marketed in a way that they're sort of told, "Oh, if you take this DNA test, you will learn about your identity." But your identity's not actually in your DNA. Your identity is something that is part of who you are internally, what you inherit from your family history, in terms of, like, the stories, the values, you know, the languages, all these things contribute to our identities. But if somebody tells you once had an ancestor from a certain part of the globe, the fact that it's being billed is something that can shift your overall focus on who you are, I think it doesn't give full credit to people about how complex we are and where our identities actually come from. So this is a very interesting kind of marketing tool that's kind of influenced how people really have started thinking about what their identities mean. Susanna Smith Yeah, and I think there's a real double-edged sword there. On the one hand, I think identity is often negotiated by the individual, right? Any given individual kind of decides as you self-actualize, what is my identity? What of what I know about how I was raised, all of these things do I truly adopt as part of my identity? That's part of the thing, I think. But then I also think, to your point about forced migration, or even people who don't know their biological relatives, there is also this aspect of, like reconnecting to aspects of ancestry or genetic heritage that you didn't necessarily know before, that by doing DNA testing, you might learn. So it's complicated. Shoumita Dasgupta It is complicated, and I appreciate your bringing that up, because this is also a tool that people have used to try to understand more about their identities when there are gaps in their understanding of their own personal histories and family histories. So, I don't mean to downplay that by any means. It is incredibly complex. Susanna Smith So one of the parts of the book that I really geeked out on, I just, I really loved, was the chapter where you talk about genetic variation across humanity. And it really made me think about how we often perceive other people from other places, as different from ourselves. We perceive them as so different because of the way they dress or the language they speak, or their mannerisms, skin color, eye color, all these sort of visible differences. But at the level of our DNA, how different is one human being from another, like someone on the other side of the globe? Shoumita Dasgupta Yeah, that's such an excellent question. When we, well, maybe I should actually back up and first say that the Human Genome Project allowed us to sequence the entire genome of many people. Now we've had, kind of, Human Genome Project 2.0, where we're looking at people from all over the world, and understanding what genetic variation looks like in many different populations. And the key conclusion that we keep coming to over and over again is that we are incredibly, incredibly alike. I mean, we're talking about over 99% alike. The variation that exists between humans does not fall along population lines. The variants that we see tend to be within group not across groups. And that just emphasizes that we are so much more alike than we are different, and we can be more similar to somebody who comes from a different racial group than ourselves, than we might be to somebody within our racial group because of the way human genetic variation works. Susanna Smith So can you expand on that a little bit and talk about how does human variation work? And when you say you could be more similar to someone in your group, and you said racial group, but there could be potentially other groups like geographic ancestry, than someone else. Can you just expand on what does that actually mean? Shoumita Dasgupta Sure. I'll just say there are two main types of variation that we can think about in this context. One is the type of variation that we would see across groups. And the second is what are known as private alleles, so those would be different variants that are present only within a very specific group. Those private alleles are not only incredibly rare but they also are only present in a very small fraction of the population. So, when it comes to the variants that are present across groups these are what are the common alleles. These are the alleles that you see, or the variants that you see, in people in general, regardless of where you come from. The main exceptions to these kinds of things would be if there was an actual selective pressure in a specific environment. So, for example, a lot of times people think about sickle cell disease. Sickle cell disease has often been labeled as a disease of Black folks, but that's actually a major oversimplification. Sickle cell disease actually is a result of selective pressure that gives some advantage to people who live in areas where malaria is endemic. So if an individual has one copy of the variant that leads to sickle cell disease, they actually have improved health in the context of malaria infection people who have two copies of the variant go on to develop sickle cell disease, which is a very serious chronic illness. So that particular variant is actually present in many places in the globe where you see malaria not just in Sub-Saharan Africa but also in the Middle East, in South Asia, in the Mediterranean. So, you know, oversimplifying and assuming that a condition is aligned with a specific group risks not identifying that condition in people from other groups who might benefit from treatment or access to medication or other things. Susanna Smith So I want to expand on this example you've offered a little bit because a lot of our audience are genetic counselors. One of the things that has happened within the field of genetic counseling in the last 10 to 15 years is a move away from prenatal screening and testing, so carrier screening guidelines, that were focused on particular ethnic groups and sometimes maternal age. And we've moved away from that now towards pan-ethnic, age-agnostic screening and testing recommendations. But what is your perspective, sort of, on how bias may have played a part in the earlier guidelines? Shoumita Dasgupta That's an excellent question, and I do think bias was at play to some extent but I also think it had to do with technological limitations and a desire to give access to the technology as widely as possible within kind of a cost-benefit analysis. So when genome sequencing or gene sequencing was first available, it was incredibly expensive. In the subsequent years, it's actually become rather affordable. But when carrier testing, which is testing to try to understand one's possibility of having offspring with particular conditions, when it first became online, it was really expensive, really hard to do, time-consuming. So the guidelines were sort of constructed in a way to try to maximize return on investment, maximize the information that we could get out of that type of testing. So one example might be for Tay-Sachs testing, which is a progressive neurological degeneration syndrome that affects children. The highest rates of Tay-Sachs were found in Ashkenazi Jewish populations so those are the groups who were first offered this form of genetic testing. It was really widely adopted in the community. It was even recommended in the context of Hillel and religious societies. And because the Jewish community, the Ashkenazi Jewish community specifically, were such eager adopters of the technology, over the time, it turned out that there were actually more cases of Tay-Sachs outside of the Ashkenazi Jewish community than there were within the community. So if people have restricted the testing only to Jewish families then all of those other folks who had risk but didn't know because they were from different groups, they wouldn't have had access to the same testing. So now these revised recommendations that allow for testing in an ancestry-agnostic way across all groups, they really reflect a number of important advances. I sort of alluded to the technological advances before the fact that the costs are coming down, they're easier to do the DNA sequencing in the first place. But, you know, there's also the reality that our society is becoming incredibly pluralistic. We have lots of people with mixed ancestry, and as you sort of alluded to earlier, we also have people who don't fully know their identities, and all of these folks might not otherwise have access to this form of carrier testing if we were to restrict it within specific communities. And then it kind of begins to create a different type of healthcare disparity if we use these restrictions in carrier testing. Susanna Smith Yeah, and I think with Tay-Sachs, one of the things they found also is that they were only looking for specific variants most common within the Ashkenazi Jewish community but there are other variants that caused Tay-Sachs. Those were not on the list and so some of the babies who were being born with Tay-Sachs, one, weren't in the group they were screening, but they also were developing rarer, more unlikely forms of Tay-Sachs. Shoumita Dasgupta Yes, you highlight a really important change in the technology as well, is that initially, when people were going through carrier testing, they used a genotyping strategy, which, as you mentioned, is when you're looking for specific variants that are most common in specific populations. Even though we might have risk in other populations sometimes the common variants in those other populations may differ. The frequencies might differ across populations, but the fact that the variants exists, that's really not in question. So, if you're only looking at a small handful of variants that are common within a specific population, you're going to miss the variants that might be present outside of that population, at higher frequencies in any case. So the technology change that has happened is moving from that genotyping, where you focus only on a small number of variants, to sequencing where any change that's present within the gene will be identified. Susanna Smith Tailing on that idea, what are your thoughts on newborn sequencing? Shoumita Dasgupta Oh, that's such a fascinating question. Newborn sequencing is an area that, it's come under, careful examination recently. There was actually just a <a href= "https://pubmed.ncbi.nlm.nih.gov/40966374/">National Academies of Science, Engineering, and Medicine report</a> that is looking at whether we should be thinking about newborn sequencing as a first-line test. And just for context, the newborn testing that's offered now it's primarily based on the presence or absence of different metabolites, that's chemicals or proteins, that are present in people's blood when they're born. And the rationale behind doing newborn testing is to identify kids who are at risk for developing or who have developed certain conditions that are highly treatable. If you treat them early in development, you can avoid potential significant consequences. A key example would be phenylketonuria, where presence of phenylalanine at extra high levels can actually impact intellectual development. And so putting the kids on a special diet from the earliest days of development can actually minimize the impact of this genetic variant. Now, that is currently tested by looking for elevated levels of phenylalanine in fetal blood. But you could imagine a future where you instead sequence … the key debate on this field has been, you know, is there an actual advantage to doing the DNA-based sequencing for the variety of conditions that we're considering? What's the potential for missing variants if we identify variants that are more common in populations that haven't previously been studied? Do we now have a variant that we can't interpret, you know, is this variant actually going to cause the condition or not? We see a DNA change, but we don't see a change at the blood level because we haven't actually tested the blood initially. So once these things start to kind of level out, that is the cost of the testing, being able to interpret all the variants, all that stuff, then we may start to see that DNA-based testing for newborns actually does allow for greater insight and allow for more appropriate medical intervention but right now the evidence basis is still in development. There was just an announcement, actually, that the NHS is going to start doing this in England so we'll have a lot of evidence about how that's working in the English population. There were a variety of programs that were also developing this basis in the United States, looking at healthy newborns, looking at newborns in the neonatal intensive care unit to see if DNA testing actually does have longer-term gains for them. And I think, you know, that information is still coming together. And I will say, just this last spring with the medical students that I teach, we had a debate about this topic. The students were assigned to either be for traditional newborn screening or for genome sequencing-based screening. It a very lively discussion, and at the end of our debate, the students kind of pretty uniformly voted in favor of sticking with, kind of, the standard newborn screening for now. But, you know, imagining a future where genome-based sequencing may be more applicable. In my comments, I really just focused on the medical actionability but we also need to be able to think about impact in terms of healthcare disparities, impact, in terms of genomic privacy. There's a lot of other pieces that need to come together for this to be kind of a safe and appropriate technique. Susanna Smith Yeah, I totally agree with that. I love that the medical students are debating it. If I have a strong… I have a strong opinion on newborn sequencing, but one of my opinions is that it needs to be debated. It needs to be really kind of deeply considered and talked about. I am concerned that it's moving very quickly without that debate, and moving very quickly to healthy newborns, which just really leaves me in this place of, yeah, what do you do? How do you apply for life insurance, for example? I mean, I have personal concerns about some of these areas that we aren't really providing legal protections for, but simultaneously sequencing healthy babies. I mean, to me, there's no argument when you get to the newborn babies in the ICU who don't have a diagnosis, and then a significant percentage of them can be saved from these medical odysseys by doing full genome sequencing. I mean, that seems like a no-brainer, but the step from there to healthy newborns? That's a big step, yeah. Shoumita Dasgupta Yeah, I fully agree. There's so much in your comments. And it also makes me think about you know, this is a different example but when we're talking about CRISPR, and, you know, there's all these debates about what conditions are appropriate to offer genome editing as an intervention for families. The international summits that have been convened so far, with the exception of the one that happened this summer, were all technology first. They were all focused on, you know, what can we do safely from a technical perspective? But there was no attention in those first three summits to, well, what is ethical, and how do we decide whether a condition is appropriate to be included on the list. And so, just this past June, or maybe May, a couple weeks ago, in Cambridge, Massachusetts, a new symposium was convened with some of the same players as the original International Summit. But also this time they included people with lived experience, which is a form of expertise for sure, bioethicists, you know, just bringing more people to the table to have richer and broader discussions. I think that that's part of what we need to see also when we're talking about newborn sequencing and other things. The other aspect, of course, is that our lawmakers, who are the ones responsible for creating legislation to protect people who might be harmed by some of these technological advances are not necessarily the most scientifically literate population, because they're mostly studying government and law and these kind of subjects before they become representatives. So we really do need to have a partnership with scientists and people who understand technology, people who understand the bioethics, and people who have lived experience to make fully informed decisions about all of this. Susanna Smith Yeah, I agree with that, absolutely. Susanna Smith So your book, Where Biology Ends and Bias Begins: Lessons on Belonging from Our DNA, came out in a moment of tremendous political upheaval. And we've seen the rapid devaluation of science and research by the U.S. government. And yet, your book does so much work to untangle and explain the science of genetics, and pull it away from the ways in which our bias shape our perceptions about our DNA. Who are you trying to speak to with this book? What do you hope they'll hear from you? Shoumita Dasgupta Yeah, thank you so much for that question. My answer, I don't want it to sound glib, but I really did write this for everyone. What I mean by that is I wanted to write it for young people who are forming their identities and thinking about what science has to say about different aspects of their identities. I wanted to write it for people who are making laws and trying to think about where bias comes from and what we can actually do to support increased equity in our society. And I wanted to write it for specialists who are so focused on their area of specialization but might not always be considering the big picture and, you know, the potential for harm to communities. It is my hope that this is sparking some important conversations, particularly in this moment where there's, you know, maybe less focus on evidence and an attempt to erase what science is telling us. I think it's more important than ever for us to be having these conversations. I hope that this is doing a bit of that work for us as a society. Susanna Smith Thank you, Professor Dasgupta, for joining me today on Genetic Frontiers. For anyone listening who would like to learn more about Professor Dasgupta's work, or read her book, <a href= "https://bookshop.org/p/books/where-biology-ends-and-bias-begins-lessons-on-belonging-from-our-dna-shoumita-dasgupta/be2b6cdcbf5bfa28?ean=9780520397149&next=t&"> Where Biology Ends and Bias Begins: Lessons on Belonging from Our DNA</a>, please go to her website, <a href= "https://www.shoumitadasgupta.com/">shoumitadasgupta.com</a>, or check out the link in our show notes. Susanna Smith: Genetic Frontiers is co-produced by Brandy Mello and by me, Susanna Smith. Music is by Edward Giordano and design by Abhinav Chauhan and Julie Weinstein. Thank you for listening to this episode of Genetic Frontiers connect with us at geneticfrontiers.org or on <a href= "https://www.instagram.com/geneticfrontiers">Instagram</a> and <a href= "https://www.linkedin.com/company/geneticfrontiers/">Linkedin</a> at Genetic Frontiers, to continue the conversation.

February 3, 2026

Episode 15: Making "Smarter" Babies: The Mythology of American Eugenics

Emily Klancher Merchant, PhD, author of "<a href= "https://lareviewofbooks.org/article/breeding-for-iq/">Breeding for IQ</a>" in the Los Angeles Review of Books, talks about how "intelligence—not race—has always been at the center of American eugenics." She cautions that "eugenics does not work by breeding smarter humans;" no technology has been shown to do this but the widespread, American belief that intelligence is primarily genetic is allowing governments to shirk responsibility for ameliorating social inequality and promote projects that favor those who are already priviliged. Full episode transcript at: <a href= "https://www.geneticfrontiers.org/transcript-ep-15">https://www.geneticfrontiers.org/transcript-ep-15</a> GUEST BIO <a href="https://www.emilyklancher.com/">Emily Klancher Merchant, PhD</a>, is a historian of science, technology, and medicine, focusing on the human sciences in the United States since World War I. She is Associate Professor of Science and Technology Studies at the University of California at Davis. RESOURCES <ul> <li dir="ltr" aria-level="1"> <a href= "https://www.emilyklancher.com/">https://www.emilyklancher.com/</a> </li> <li dir="ltr" aria-level="1"> Emily Klancher Merchant. <a href= "https://global.oup.com/academic/product/building-the-population-bomb-9780197558942"> Building the Population Bomb</a>. Oxford University Press. 2021. </li> <li dir="ltr" aria-level="1"> Emily R. Klancher Merchant. "<a href= "https://lareviewofbooks.org/article/breeding-for-iq/">Breeding for IQ</a>." Los Angeles Review of Books. August 22, 2024. </li> <li dir="ltr" aria-level="1"> Elizabeth Catte. <a href= "https://www.arcadiapublishing.com/products/pure-america-9781948742733?srsltid=AfmBOorN1C-9O8QjuCP3dQS2GqyESqMSvVtZEXTNDrp_QurXRUo5Xoaq"> Pure America</a>. Arcadia Publishing. 2021. </li> <li dir="ltr" aria-level="1"> Molly Ladd-Taylor. <a href= "https://www.press.jhu.edu/books/title/11933/fixing-poor?srsltid=AfmBOopAWUkStAw7ev1O2hvraWI0fzISs_Chl3-doVMN2DSiLMbWl9pM">Fixing the Poor</a>. John Hopkins University Press. 2020. </li> </ul>

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