What's Race Got To Do With It?

Why are Black women so disproportionately affected by preeclampsia? I speak to two researchers untangling the role of genetics, ancestry, and race in maternal health, plus one mum whose story shows exactly why this matters.

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SPEAKER_02 0:19

Welcome back to Why the Hell Did I Get Precclampsia? The podcast where me, a mother who has had this condition twice, is seeking answers and trying to enlighten others on the way. In my research and discussions with experts on the topic of precclamsia, one of the risk factors for developing this disease keeps coming up. RAIS. So I am a white Western European woman, so of course this particular risk factor doesn't apply to me. But I still want to know why black, Asian and Latin American women are disproportionately affected when it comes to not just pre-eclampsia, but all maternal health issues. Is there some genetic component to all of this? Or is it due to socioeconomics? People of the global majority, and that's black, Asian and Latin American communities who make up the vast majority of the world's population, often suffer more hardships when it comes to finances and access to healthcare, and this is on a global scale. Geneticist Professor Carlos Galavas Hernandez, who I spoke to last episode, has extensively studied preoclampsia in Mexico, and his findings have really highlighted the issues that we have when it comes to studying people across the world.

SPEAKER_00 2:02

They identified a very very specific marker in the genome of women affected with pregnancy. This is uh from the vascular endophilial graph factor receptor, but uh they were really excited about this uh this finding. However, uh when we tried to replicate such results in Mexican population, it was impossible, you know, we couldn't identify such a marker. We don't know for sure if that was a mistake, a methodological mistake of us. However, for example, one Japanese study was unable also to identify such marker. So um this is uh why it's so important to identify markers specific for a specific population with a specific genetic background. In Mexico we have a very complex mixture of populations. In fact, in the north part of Mexico, for example, the Caucasian genetic background is in some regions has 3D pretty high, but in the north in the south and southeast part of Mexico, the indigenous component is 3D high. So it's exactly the opposite situation. So in fact, uh inside Mexico, the market can be useful in the north part could uh be uh useless in the south part of Mexico. That's that's one of the main difficulties that we have facing these uh these kind of studs. Fregancia unfortunately kill over the 8 to 10% of women in Mexico, and the mortality of not only of the women but also the features it's really had.

SPEAKER_02 4:07

It would appear from Carlos's research that there is a genetic factor at play here, but it might not be what it seems. The subject of race and maternal health is murky and lacking answers, in part due to the significant lack of research on this serious issue. According to the Preoclampsia Foundation, the preocclampsia rate is 60% higher in black women than white women, and black women are also more likely to develop severe preoclampsia. So I have spoken to someone who might understand why. Dr. Frances Conti Ramsden is an obstrix and gynecology registrar and clinical research fellow at King's College London, and through her research she may have found a possible genetic link between black women and early onset preeclampsia.

SPEAKER_01 5:04

What are you measuring when you measure ethnicity? What we often end up settling for in medical research is this kind of middle ground of ONS of Office of National Statistics categories. The reason why we settle for that is because there are much more detailed kind of granular systems you can use to classify someone's ethnicity. But if you start to go into teeny tiny groups, you lose statistical power very, very quickly. So it becomes very difficult to actually compare between groups.

SPEAKER_02 5:33

In other words, the smaller the group you're studying, the harder it is to draw any reliable conclusions. So researchers often have to lump people into broader categories just to get enough data to work with.

SPEAKER_01 6:11

And I never know what to tick some tick on, and I tick different things at different times because some days I feel a bit like annoyed at the system, so I tick other and I spell out what I am, and then other days, you know, because there isn't a big yet Hispanic population in the UK, there isn't a box for someone like me. Ethnicity is this very complex construct that has geographical, political, socio-cultural connotations, it's not measuring a biological variable.

SPEAKER_02 6:42

So essentially, the box you tick on a form in your doctor's surgery and your actual genetic makeup aren't always the same thing.

SPEAKER_01 6:50

The problem is that in medical research that is how it's been used. So if you take someone's self-reported ethnicity and then you take someone's genetically determined ancestry, then compare them. How do they compare? Do they match? Do they not match? And then, secondly, what are the relationships then with disease? And obviously, in this case, we were interested in impriaclampsia. So ancestry again is is a is a concept of the idea of someone's kind of biological ancestors. There's a dip, there's different ways of calculating this that you can do, obviously, like family graphs, and um, you know, there are people who are much better kind of geneticists than me who who who specialize in this, but what we did was um use what's called reference populations. So there's something called the 1000 Genomes Project, where they they sequenced and they genotyped um uh individuals from 26 populations all around the world. They they worked with um some Yoruban tribes in Nigeria, they worked with um indigenous tribes in uh in Peru, uh, they worked with um European ancestry individuals in Utah, and they were chosen specifically with the idea that they were likely to be representative of ancestral groups. So that's already an assumption, actually. And then they made all of that genetic data available to researchers all around the globe. So this fantastic resource of human diversity. And so then what you can do is you can use algorithms, um, their machine learning algorithms to take your study group, which is what we did, and compare them to these reference populations and say, what's the likelihood that they have 10% ancestry from this group, 20% ancestry from that group? It's not perfect, it relies heavily on what your assumptions are, which in this case is your primarily your reference groups. We did lots of playing around with the algorithm, trying sort of different numbers of genetic locations, different variants, and the results were very, very stable. But I think you know, I have I do have to say that this is not a perfect method. And then we took all of those 26 different populations and grouped them into what we call continental superpopulations. And the reason why we had to do that is again for power because our studies were quite small in number for genetic studies. We did a first study in a smaller um, I think it was about 400-ish uh women, and then we did a larger, so I think it's been published uh this year um in Jack Advances looking at a case control study which was a bit bigger, um, uh close to 4,000 women, and there we looked at, and then we found a very similar result. So an association between African ancestry, and then if you go into a bit more detail, West African ancestry and risk of preeclampsia. So what was important was that in both of these studies we adjusted for factors like age, BMI, um, and and still found this association. In terms of what does that mean? So I think there were two kind of key conclusions that I drew. The first was that self-defined ethnicity is not a perfect proxy for your genetic ancestry. So we saw that in the in the first study, which I think is more representative of the real world, there was almost a 20% discrepancy. Whereas in the in the second study, which was bigger, it was smaller proportions, about 10% of self-reported black women and 5% of self-reported white women had ancestry that differed from their from their self-reported. And it's you know, it's really interesting. People look at this and say, like, oh, well, you know, surely you made a mistake, you know, someone wrote wrote something down incorrectly. Um, and so we did loads and loads and loads of checks. Like we checked the electronic health record against the study record, um, we checked for all kinds of kind of um, you know, sort of genetic issues, sample mix-ups, things that could have explained it, and we and we really, you know, there was no other explanation. I think this is reflective of the fact that how women feel and what they self-report and what their genetic ancestry might be can just be two different things. And then the second, I think for me, what um the again, the way that I kind of understood this work, it's it provided some evidence that there may be a genetic contribution in women of West African ancestry. And I say that tentatively because I'm not I'm not convinced that we were able to exclude, for example, the effects of colourism. The thing with ancestry, and the reason why it's sort of I'm tentative is because it's a very broad brushstroke. So if you think about your genome, your 23 chromosomes, it's essentially like painting most of them one of five colours. And obviously, there's so much more detail than that. You know, you've got books and books and books of of strings of letters in in each person's genome. And because we were a small, a relatively small study from a genetic perspective, we couldn't go down to that level of detail because we just didn't have the again, we didn't have the statistical power to do so. So I think the the way that I understand it is there's a signal there, and there is the possibility of a genetic um contribution. What we absolutely need is representative data, so you know, really working on building trust with communities so that they're willing to do genetic studies, because that's you know, many uh many individuals in some communities are hesitant, and given what medical researchers look like, that's that's that's perfectly uh understandable. Um, but until we start to get larger scale studies and we can start to go down into that level of detail, we're still going to be relatively in the dark. So it's giving us some information, but not a full picture by any means. And like I said, I think that there is in parallel to that story, you've got the other story, which is really looking at those social, cultural, but also kind of you know, racism and institutional barriers to healthcare. How is that playing out with ethnicity and ancestry? So I think there's two kind of parallel streams that need further work, and to be fair, that's always what researchers say, isn't it? Further further work needed. Genetics to date is heavily, heavily Eurocentric. So 70-80% of all genetic data that's ever been genotype sequence, whatever it is that you've done, is from you know European ancestry individuals. And I deliberately use the term ancestry because you know that's what we're talking about when we're talking about genetics, we're not talking about ethnicity.

SPEAKER_02 13:27

So to put that into perspective, the vast majority of everything we think we know about human genetics is based off the DNA of white European people, which means that everyone else we are largely guessing.

SPEAKER_01 13:41

Um so it means that our understanding of genetics is built on a Eurocentric data set. So we actually don't really fully understand genetic diversity and variation in other um in other kind of ancestral origin um populations because we don't have the data. So, you know, it's I you know, so that's why I'm very, very cautious about drawing big conclusions. You know, we're not saying this is providing definitive evidence, we're saying what we call for is bigger, larger studies of representative diverse data sets. You might find variants which are you know clustered in particular in particular populations, that doesn't mean they won't be of relevance to other populations. You often see these plots in genetic papers that it's called principal component analysis, where you plot all the people based on how similar they are to each other genetically. And what you see is you have these kind of poles with the people who are like the most European, the people who are the most West African, the people who are the most East Asian, they're at kind of the extremes of this plot, but there are people the whole way through, so you don't have real groups. What you have is continuums, you know, gradients. We like to think of groups and categories, but it doesn't really work like that. Um, but we're just scratching the surface, I think, of really understanding genetic diversity. Um, but in diseases like preeclampsia, where there is evidence of a genetic component, you know, I I really think that we've got to be really proactive about ensuring that the data that we have is representative of the populations who are most affected, and at the moment that's completely mismatched in our field. So I think if there was like one gene, so if you think about like cystic fibrosis, there's one gene that really is causing cystic fibrosis, and I don't think that's true of preclampsia. I know we don't have very much data, but I think if there was one place, we would have found it with 20,000. I think, I think. If we think about the associations, so cardiovascular history in the family, um, uh, you know, older maternal age, pre-existing medical complications such as chronic hypertension, diabetes, inflammatory conditions such as lupus, rheumatoid arthritis, things that we know also accelerate cardiovascular aging and disease. You know, were you already on a slightly different trajectory, sort of slightly different cardiovascular trajectory, and then pregnancy unmasks at your risk. But then think about all the modifiable stuff like smoking, like diet, like exercise, like stress. Um, you know, stress is a recognised risk factor for cardiovascular disease. Um, so I think it's probably a combination of both. I am sure that there are genetic contributions to preeclampsia in the same way that there are genetic contributions to many, many cardiovascular diseases. I think it will vary hugely, and I think there was, I'd be very surprised if there wasn't a genetic component for everyone. Um and we may find that there is that that signal is stronger in women of black ethnic backgrounds of African ancestry, but we don't but like I can't say that conclusively, but for what I would kind of put out there as my as my opinion is that this is a complex disease phenotype, so we're seeing a contribution of both, and that balance will look different in different individuals.

SPEAKER_02 17:22

Franz research is vital in understanding what role race has to play not just in preoclampsia but all maternal diseases. But as she said, the data just isn't there yet to truly understand what is going on. I have more experts and researchers to talk to about this subject. So hold on for part two on race and preocclampsia. Now it's time to introduce my next mum, Janine. I met Janine at our mutual friend's wedding and we got chatting over our preeclampsia birth drama. Janine's birth story is a great example about why it's so important to advocate for yourself.

SPEAKER_03 18:05

I think 34 when I was pregnant. I'd done most of my so that was back in 2020, the end of 2020, start of like 2021, so kind of in the midst of COVID, um, and I kind of did most of my antenatal care in London because that's where I was living at the time, and just with like lockdown with work and all of that, it was just easier to stay in London. But my plan was to come back to Liverpool to have my baby. Um had some complications around the 30-week mark. So I spent like a week in hospital um because the baby had really high heart rate, um, and they couldn't figure out what was kind of causing it. So there was like discussions about delivering uh at 30 weeks, which thankfully we didn't have to do. Um kind of after that hospital stay, I was just like, right, I need to get back to Liverpool because if I do the baby ends up coming early, I need to be back with my family, I need to be right with my support, and that's kind of what my birth plan was. So I think I moved back. I must have been about say like 34, 33 weeks, and kind of went through the process of uh registering with the local hospital. So I I kind of registered with my local hospital, and because I didn't have a GP, they'd put me down as like an appointment with the the midwifery team in the hospital because in my area they have the community ones that come out to your house rather than going into the hospital for your midwife appointments. But then I was also going into the hospital to see the uh baby cardiologist as well, like I was seeing a specialist there just to keep an eye on my daughter. Um so yeah, I'd had my kind of home visit midwife um come out a couple of times, but she kind of wasn't dipping my way, and kind of at this point I was very, very swollen. Um like my feet were huge, I could only fit into like a size 11 men's kind of thong sandals because nothing could go on my feet. They were like just completely swollen, like huge, like mountainous. Um, so I'm like usually like a woman size seven for comparison. Uh my face was huge, my whole body was just huge. Um and I so I turned up to my midwife appointment in the hospital and kind of exp waited 45 minutes first of all. Um and then when I went to see the nurse, I was kind of well the midwife, sorry, I was explaining like, oh I'm really like swollen, like look at my feet, uh, look at my face, like I'm I'm very swollen and my home midwife hasn't been dipping my way, like kind of explained my concerns, um, and she basically said, Oh, say this was like on a Wednesday, I'd been seen by my home midwife on the Monday, and she was like, Oh, you were seen a few days ago. Um, I'm not gonna see you basically, I'm not gonna kind of look you over, just wait till your next kind of home visit type of thing. And I was like, you know, I've had like complications kind of in my pregnancy, like previously, and was just like basically bleeding with her to like check me over. Um, and she kind of just outright refused and sent me on my way. And then like I'd say like 24 hours later I had like reduced movements, and my cousin, who's a kind of qualified clinical midwife but doesn't work in midwifery anymore, was like, Oh, you need to ring the kind of emergency line, like it it doesn't matter if it's only like slightly reduced, just you know, make sure everything's fine. So I I called the And they told me to go straight in, and they took my blood pressure, and it was like basically sky high. Um, I'd kind of explained the situation that I'd literally been in like less than two days before, and the midwife refused to examine me, and the like I could see the utter kind of shock in their faces that I'd been treated that way. Um they also flagged as well that I had gestational diabetes, but it looked like my referral had been lost, um, which I'd never kind of known about. I was never informed that I'd had gestational diabetes on top of that, and essentially they said we're gonna have to deliver the baby within the next 24 hours. And at this point I was 36 weeks, so stayed overnight in hospital and had the uh the first kind of C-section of the day um the following day, and that went fine, the hospital staff are all great, like who kind of worked on the surgical team and delivering the baby, like couldn't have kind of done enough. Um and then after spending like three days in the kind of high risk unit, uh, I was moved on to the general um like the general ward and they were kind of testing out different blood med blood pressure medication because it didn't come down. Um so that was kind of weird because they'd mentioned that the certain blood pressure medication that um basically doesn't agree with like um black people is what I was told. So child a couple of them, some of them just made me completely spaced out to the point where like I couldn't look after my child. Um I was just like I can't, like I can barely see everything that I just I'm not like fully there basically, and then found like a combination that worked for me. And then I was on basically I've been on like 10 milligrams of kind of blood pressure medication ever since, and this is like four years ago that this has happened, so the kind of the blood pressure stayed high, um kind of even after delivery, which apparently only happens to a few people, like it usually returns back to normal straight away. Um so I'm kind of living with uh high blood pressure currently. Um I'd heard of pre-eclampsia and knew that kind of swelling was a sign of preoclampsia. I didn't know the kind of ins and outs of it, I just knew that it could be quite dangerous. Um obviously I feel like given my ethnicity as well, that that midwife shouldn't have kind of just turned me away if there's an increased risk um because of my ethnicity. With that specific midwife, I felt like more so I was being dismissed because she was running late. Um so it was more I felt like it was more about that kind of at the time. Um I didn't really kind of consider that it had it was because like I was black or anything like that. Um but yeah, I was kind of aware of the statistics kind of with um black women and black babies. It should have been more considered my ethnicity in it. Um kind of especially with the midwife who kind of dismissed me. I think that generally when you are more likely to have these conditions or have these complications, that there should be I don't know whether it is leaflets or just education kind of around symptoms and things to kind of look out for and stuff. Um I think there definitely needs to be more work on targeted work on that because obviously when you've seen a midwife face-to-face, she sees your definitely, she knows what it is, so they should be kind of highlighting what some of the risks are as well and things to look out for. It's just um I've been lucky in the sense that my doctors associate them every six months um for like reviews and stuff on like blood blood pressure medication, and I've also been now slightly lately again, uh just being referred to the kind of hypertension clinic at the hospital, which felt a bit like I've been on this medication for like four years. I don't know why I'm only just being referred to this department. I don't know why I was never aware that there was a hypertension clinic at the hospital, and although every doctor I see says, Oh, you're a bit young to have high blood pressure, and then I explain kind of why no one's ever referred me until like recently to the hypertension clinic because it can you know have adverse effects on your heart as well. So always advocate for yourself, you know, your body better than any doctor or any midwife, you know yourself and your baby better than anyone possibly good to you know when things aren't right, and if it's something that you're worried about and you're being dismissed on, I'd say definitely kind of push for either a second opinion, push for um you know to be seen, and like you know, if it comes down to it, put in a formal pals complaint, um, because sometimes that's the only way that things actually get done or any issues get resolved.

SPEAKER_02 27:14

Race is obviously such an important topic when it comes to preeclansia, and we've only just touched on socioeconomic factors, but I will be revisiting this in another episode. It's slow going and funding is not where it needs to be. But we are getting closer to understanding why people in the global majority are so much more affected when it comes to maternal health. For now, what is obvious is that these mums are in need of more care and monitoring during pregnancy, whatever the reason behind it all. Next episode, I will be going further down the rabbit hole of data and medical studies. Why are women rarely included in medical research? And why are we prescribed medication that has never been tested on us? And are there safe ways to test new treatments on pregnant women? For more information and support on preocclampsia, please reach out to charities such as APEC, also known as Action on Precclampsia. Their free helpline offers advice and support. Music and vocals are by Rebecca Green!