Genetic test results, social media advice, and an irreversible choice [PODCAST]

Listen and followApple PodcastsSpotifyYouTubeMore apps · Browse all episodes

Your genetic test results now arrive on your phone before anyone is available to explain them. So the questions go to an online mom group, or to ChatGPT, and strangers answer first. Stephanie Waggel, physician and founder of Improve Medical Culture, has been watching that happen in real time. This episode is based on her article “Social media told her to abort her Turner syndrome baby,” published on KevinMD. You will hear why a screening result is not a confirmation, and what has to happen before anyone knows for certain. You will hear why familiarity, speed, and distrust of institutions pull patients toward voices they have never met. Artificial intelligence gets a hard look too, since it can be convincingly wrong and learns from other artificial intelligence. And the comment sections run from parents who say their daughter is fine to strangers who say you are torturing the baby. Press play for the checks that separate a credentialed medical voice online from a convincing one.

This episode is brought to you by ModMed.

Welcome to your new AI-Powered Practice from ModMed. We’re transforming specialty care by embedding AI Assistants across your entire workflow. Our all-in-one platform of EHR, patient engagement, practice management, and RCM helps reduce repetitive work while keeping you firmly in control.

Trained on de-identified data from nearly a billion patient encounters, this isn’t just smarter software. It’s a new way of working for specialty medicine, more efficient and more connected to the patient experience.

Start building your AI-Powered Practice at modmed.com.

VISIT SPONSOR → https://www.modmed.com/

SUBSCRIBE TO THE PODCAST → https://www.kevinmd.com/podcast

Transcript

Kevin Pho: Hi, and welcome to the show. Subscribe at KevinMD.com/podcast. Today we welcome back Stephanie Waggel, physician and founder of Improve Medical Culture. Today’s KevinMD article is “Social media told her to abort her Turner syndrome baby.” Stephanie, welcome back to the show.

Stephanie Waggel: Well, thank you for having me back.

Kevin Pho: All right. So I understand that you saw this post in a moms’ group on social media, and obviously something about it stopped you from scrolling. Tell me about this post and why you decided to write this article on KevinMD.

Stephanie Waggel: Well, I think all the other posts I see about misinformation just started to stack up on me, and immediately I thought, well, of course, there are plenty of individuals living with Turner syndrome perfectly fine. I got into the example of how they used to do Barr body tests in high school, and a lot of individuals would actually find out that they had things like Turner syndrome. That would imply they went that long without realizing they had it, which means you can deduce they didn’t have extreme symptoms. And from that, you can deduce that, while everybody has their own reasons, in general it wouldn’t be something to terminate a pregnancy over.

So I thought, wow, I really hope this isn’t the only piece of information they’re getting to make such a big decision. And just as a disclaimer, I’m not going to get into abortion, or whether you should or shouldn’t, but the main point is that you probably shouldn’t base your decision on some random person in a moms’ group on social media, because I don’t think the information they were putting out there was very accurate.

Kevin Pho: So let’s get everyone on the same page. Give us a 30-second primer on what Turner syndrome is, and then tell us what exactly the post said.

Stephanie Waggel: All right. So Turner syndrome is when you have monosomy X, meaning you only have one X chromosome. Boys are XY and girls are XX, and sometimes during meiosis there can be a line that doesn’t have any, so the subsequent offspring would just have a monosomy X. Instead of another X or another Y, they have just one X. There are some things on the X chromosome having to do with fertility and some cardiac abnormalities, so if you don’t have the additional X chromosome, you may or may not have these issues. But “may or may not” is the key phrase here, because sometimes you can have some pretty substantial problems, and sometimes you can have no problems at all.

In women with Turner syndrome, you might see things like a webbed neck, nipples spaced farther apart, short stature, that sort of thing. I guess the big thing people do talk about is infertility, but in a lot of cases IVF can overcome that problem. So because such a wide variety of symptoms can come forth, it’s not something where you’d say, “Oh my gosh, this is devastating and horrible.” You could even ask people who have Turner syndrome, and they might say, “I think it’s not so bad.” So it really depends.

And it’s not one of the chromosomal abnormalities that’s completely incompatible with life. It’s so compatible with life that people in high school were finding out they had it and had never known. They subsequently had to get rid of that test, because people were finding out in high school, which I guess made for an awkward conversation with their biology teacher.

But the point is that because it’s not one of the ones that’s incompatible with life, I think the women making these decisions should also hear another point of view, which is that actually, if your daughter does have Turner syndrome, she usually wouldn’t even notice until puberty. And I don’t want to get into too much detail, but there are also mosaic types of Turner syndrome, where some of the cells have XX and some have only one X, and then the symptoms aren’t so bad. But again, getting back to the main point, there’s a wide variety of symptoms and severity, and in some cases it’s not even noticeable.

Kevin Pho: Now, when during pregnancy are these chromosomal abnormalities typically screened for? And tell us what the standard of care is when someone discovers that their baby may have Turner syndrome.

Stephanie Waggel: So this is a good question, because in these moms’ groups I’m seeing the NIPT test. Back in the day, you would have it, and then your doctor would tell you the results. But now you get the results on your own. And there are a couple of different reasons I think people go to the internet. One is that you now get the results yourself, and you’re not being given them by a doctor. So you don’t want to wait for your appointment. You just put them out on the internet immediately, and I’m always seeing screenshots of people’s NIPT tests in these moms’ groups.

Another is that even if they got the results from these tests, which you can get at about 10 weeks’ gestation, and the doctor did go over the test with them, if it’s bad news, your brain tends to shut down right away. Maybe you can’t really receive the information well, or you’re just in too much shock to hear it, or your doctor doesn’t have much time to go over everything. And that’s when they come home and put it out on the internet.

So you would get this testing about 10 weeks in, and it’s pretty standard. They do it for everybody. You can opt out of it, but personally I don’t see why you would want to. That’s everybody’s own decision, but they just do it as standard. And when you get the results, of course you want to talk about it, but it may be, one, that you got them on your phone through your portal, so you can’t talk to a medical provider, or two, that when your doctor tells you, there might not be enough time, or your brain might have shut off because you’re in shock. And so I think that’s why people go and post them online.

I have other ideas about why people end up believing people on social media instead of doctors anyway, and I get into that on my blog, about why people now go to social media instead of professionals. I also did a video about free births, about why women have babies without any medical care, so I could go off on a tangent about that. But basically, the other point is that you get these tests, and then for whatever reason you can’t go over them with your doctor, or not enough, and then you go to social media.

Even if the test shows something that’s incompatible with life, it’s not confirmatory. You would need an amniocentesis or a chorionic villus sample or some other, more certain test, because this is just the screening test, mind you. It’s a screening test, so there are false positives and false negatives. Turner syndrome isn’t one of the ones that’s completely incompatible with life, but even if it were, you would still want to get subsequent evaluations for it. And I think a lot of women might think the NIPT is the end-all, be-all, and whatever it says goes, but that’s not the case either.

But then they have people on the internet telling them, “Oh, well, that’s what it says, so make this irreversible decision to terminate your pregnancy based on this one screening test.” And in case you can’t tell, it burns my biscuits a little bit. It gets me a little bit upset.

Kevin Pho: Now, what do you think are some of the reasons patients are turning to social media? Is it a lack of relationship, or even a lack of access, with their physician? Why do you feel they turn to social media for advice after these potentially life-altering test results?

Stephanie Waggel: So I did an investigation, a nonscientific investigation, where I actually posted in these moms’ groups, saying something like, “Full disclaimer, I want you to know I am a doctor, but I’m not going to come after you, or yell at you, or fight or argue with you. I genuinely want to know why.” There were two things; I did two separate posts. One was why women have these free births, and why they aren’t going to doctors at all. The other was why you would believe a nonprofessional on social media over a professional. And it wasn’t even doctors specifically. It was lawyers or any sort of professional, like a plumber. Instead of hiring a plumber, you just go onto Reddit and say, “I have this problem with my toilet,” and some guy in Montana says to do this. It’s like, why aren’t we talking to the people who have the degrees or the expertise in these things?

I’ve come up with a couple of ideas. One is familiarity. A lot of people feel like doctors are not relatable, which I guess I can understand. And when you see somebody over and over again every day on your phone, even though you’ve never met them, you feel like you know them. And when you feel like you know somebody, for whatever reason, you feel like you can trust them more. So instead of your primary care doctor, who you only see once a year and maybe don’t feel a connection with, especially since nowadays you can’t really spend much time with them, and I blame insurance for that, it’s the wellness influencer you see every day who you feel this connection with, and they’re more believable. So that’s one of the unfortunate reasons.

Another one, of course, is access. Like I was saying earlier, once you get those test results, you might have to wait another week or two to meet with your doctor, whereas you can post in these moms’ groups immediately. And it’s not only about getting quicker answers, it’s about getting more time, because you’re talking to your doctor for maybe 10 minutes. But as a mom, I know that when it comes to kids, you ruminate, so you spend hours on it. If you post it online, you can check every five minutes for the next two days, and there’s going to be a continuous discussion going on. So people go to social media because they can opine on it for hours, whereas you obviously couldn’t do that in your doctor’s office.

And then another one, which I found in both cases, when I was looking at why women would do a free birth with no medical care and why people don’t trust professionals, is this distrust of institutions, like “the man,” and it’s getting worse and worse every year. Now, personally, I’m in the middle, because I obviously follow the clinical guidelines and all that sort of thing, like the American Academy of Pediatrics guidelines. I follow what I guess you would call “the man,” the institutions. But sometimes you can be skeptical. I’m sometimes skeptical of pharmaceutical companies. But a lot more people just distrust any sort of governing body for the mere fact that it is a governing body. I can at least pick here and there which ones I want to trust, whereas some people just don’t trust any of them.

And that’s another reason why they might not go to their doctor for this sort of information and instead opt to post it in a moms’ group and see who comments. A lot of times bots comment, and people with a particular agenda. That really gets me upset, because some of these women actually do listen to these people, because they feel like, “Oh, I see this person’s videos every day, so they must be trustworthy.”

Kevin Pho: Yeah, I saw an article in The New York Times about these wellness influencers, and exactly like you said, they have a relationship with the people looking for advice. And the fact is that physicians just aren’t available. Patients don’t have access, so that’s really the next step they have to turn to. And of course, now they have AI. They have ChatGPT and Claude, where again they can certainly get answers immediately. So it’s that immediacy, that instant gratification, that I think is certainly very, very appealing to a lot of these patients.

Stephanie Waggel: Right. So I have two things to say. The first one I’m going to go into is AI, and the second is a potential solution, because I always like to have some kind of potential solution or idea to correct this. I don’t like to come on here and talk about problems without having an idea.

So first I’ll get into AI. AI is very problematic because it’s often convincingly wrong, and the people who would catch it or call it out for being wrong are the people who are experts in whatever they’re asking about. But if they’re experts in it, they probably wouldn’t be asking AI about it anyway.

Another example is that I’m currently doing a systematic review of different maternal, fetal, and neonatal outcomes and different medications, so we’re doing bias assessments. And just for people who are listening, my definition of bias is a deviation from the truth, so I like to think of myself as a truth finder. We’re using the RoB 2 tool for risk-of-bias assessment on randomized clinical trials to see, OK, is this study deviating from the truth, if you will?

Just as an example, an eight-page paper could take hours to assess for bias. And of course people, A, don’t know how to do that in the first place, because it is quite complex, and B, who’s going to take the time to spend hours seeing whether a specific study is or isn’t biased? But for fun, I had AI do it, and it was horrible. Horrible. It couldn’t detect bias, it couldn’t detect whether the authors were cherry-picking, and it couldn’t pick up nuances. For instance, it thought a study was blinded, but there was a sentence in there saying they were increasing the blood pressure medication if people’s blood pressure got out of control, which would imply that it was not blinded. It just didn’t pick up on things like that. So in my opinion, AI is not very good at detecting whether this information is valid or not.

And then it also does this thing called model collapse, where AI is getting information from AI that got its information from AI. I actually have students right now, and one of their assignments is to trace information back to see whether it ever even originated from a human being. So people like how quickly AI can tell them things, and AI is very convincing, but I think that’s probably just as bad as going onto the moms’ group and asking.

But I did say that I had a potential solution. You want your information to come from an expert, right? And then you also need to make sure the expert’s not lying, because there are so many people out there who call themselves doctors and they’re not. So if we find actual people who have the correct training in these things, they’ll be like med influencers. For example, you can follow me at Improve Medical Culture on Instagram. So people like me, who you can become familiar with, but the information they’re giving is actually based in reality and evidence-based, and not just some random article that probably came from an AI that got it from another AI that got it from yet another AI.

But the problem is that med influencers who are truly educated and have the degrees don’t get paid when we’re doing stuff like that. So you become familiar with them, and it’s a trustworthy person, and you can get the information fast, but then you’re kind of asking these professionals to donate their time for free. So I suppose what everybody can do is follow them, because at some point you reach a threshold where you do start getting paid.

And so with med influencing, even though it was initially discouraged, because at the beginning it was like, “Oh, it’s not professional to go out and do this sort of stuff,” now it’s probably one of the few ways we can really reach the masses. So I guess my idea would be to follow real med influencers and make sure they’re actually educated and not just using AI or making stuff up. That’s just one idea I had to help with the problem.

Kevin Pho: Yeah, I think what you’re saying is certainly an argument that physicians and reputable health care professionals need to go where the patients are. Because if patients aren’t going to get access to that information, if they can’t see their physician, they’re going to go to these social media groups, and they’re going to go to AI, because they want that answer instantly.

And you bring up an interesting conundrum with these med influencers, because, of course, as legitimate medical professionals, they’re seeing patients. They don’t have time to create content. And as you know, content creation is very, very time-consuming. It’s a lot of pressure to continue creating content, and if you’re not getting paid, it disincentivizes them from continuing. But even among these med influencers, and there are a lot of physicians online, in order to get paid they sometimes have to promote products, and they have to promote things that aren’t actually medically sound. There are a lot of physician influencers who fall into that trap. So as a patient, even when you see physicians online, how can you tell that the information these physicians are giving is actually reputable?

Stephanie Waggel: Oh, that’s a great question. So back in the day, before AI and all that, when I was in medical school, they had to teach us to ask about websites: Can you tell if they’re trying to sell something? Are they biased? There should be a RoB 2 analog for finding bias in people online. But it was Health On the Net, and it would go through and ask, “Can you find who wrote the page?” OK, and if you find who wrote the page, can you find their CV? Can you find that they actually went to school to write about what they’re writing about? Are there advertisements on the page?

So you can extrapolate that to an Instagram account. Can you find this person anywhere else? Do we know they’re even using a real name? OK, can you find their CV online? Can you find evidence that they actually went to school somewhere? And then, similar to what we were doing in med school with Health On the Net for web pages, you can look at an Instagram account and see whether they’re selling something.

I get approached quite frequently, like, “Can you promote this thing or talk about this thing?” And I’ve only ever done one. That was scrubs, and it was through a physician moms’ group. First of all, with scrubs, it’s not like there’s a risk or benefit. They’re just something you wear to work. They’re not going to have a side effect. Also, I really like the scrubs. And I knew the woman who owned the company was a physician mom like myself. So that’s the only time I ever did that, and they didn’t pay me. They sent me some scrubs, and it was nice.

But when you’re a med influencer, and I don’t want to say wellness, because they’ve stolen the term “wellness,” and now it has a negative connotation, but when you’re an influencer in the medical field, you’re donating all this time, so you almost have to take these opportunities to get paid. You can’t pay back student loans just by making YouTube videos, unless you’re monetized and have a big following. So I guess you want to look and see, if they are selling products, whether it’s gimmicky, or how much they’re doing it. If every single video is “buy this shake,” then I don’t know about that.

Kevin Pho: Now, in this conversation, we’re zeroing in on that particular comment that told this particular patient to potentially abort her baby. Tell us about the spectrum of comments. Did they run the gamut in terms of their recommendations to this patient? What did some of the other people say in those comments?

Stephanie Waggel: Well, I just saw this scrolling through my feed, and then I did a deep dive and found that it’s a very prevalent topic on Reddit as well. Apparently people get these test results back a lot of the time, and I was specifically looking at Turner syndrome, and it’s across the board, all sorts of different things. There will be people who say, “I have a daughter with Turner syndrome, and she’s just fine, and I would be devastated if I had aborted.” And other people are saying, “Oh, if you keep this baby, you’re torturing it, and the baby’s suffering.” So both ends and everything in between, which I can imagine is very stressful for the original poster to read.

Kevin Pho: We’re talking to Stephanie Waggel. She is a physician and founder of Improve Medical Culture. Today’s KevinMD article is “Social media told her to abort her Turner syndrome baby.” Stephanie, as always, let’s end with some of your take-home messages for the KevinMD audience.

Stephanie Waggel: Oh, OK, good. So, take-home messages. One is that whenever you’re looking at any piece of information, even if it’s research published in a reputable journal, you can’t just believe exactly what it says. As I was saying earlier, I do risk-of-bias assessments, and they take a long time, and I find all sorts of strange, negative things in certain research. So whenever you have a piece of information, you have to look further into it to see if it’s even accurate.

Another is that AI is not good at determining that, and AI also gets its information from other AI, which got it from other AI, and which may never have originated from a human to begin with. So take AI with a grain of salt.

And the third thing is that people want somebody they can relate to, see over and over, and have access to, and that’s why people go to influencers. So actual med influencers who have the training to give this sort of information accurately are a good thing, but they kind of have to work for free. So maybe people can start following people who they can verify actually have the degrees and training, instead of following people who are just, well, I guess you could say, snake oil salesmen.

Kevin Pho: Stephanie, thank you so much for sharing your perspective and insight. Thanks again for coming back on the show.

Stephanie Waggel: All right. Thank you so much for having me.

Listen and followApple PodcastsSpotifyYouTubeMore apps · Browse all episodes