Behind the Genes

In this explainer episode, we’ve asked Ella Davyson, Genomics Data Scientist, to explain the meaning of the term genomics.

You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel.

If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk.

You can download the transcript or read it below.

[00:00:00] Florence: What is genomics? My name is Florence Cornish, and today I'm joined by Ella Davyson, who is a genomics data scientist here at Genomics England, and she is here to explain the topic in much more detail So, Ella, we obviously both work at Genomics England. This podcast is called Genomics 101, so I guess it's fitting that we have an episode dedicated to explaining the term 'genomics'.

[00:00:26] But before we get into that, I think it would be good if you could first explain what we mean by the term 'genome'.

[00:00:32] Ella: Thanks, Florence. The genome is, essentially you can think of it like a manual booklet, or instructions that the body uses in how to grow, survive, and function, and this is a manual that's in every single cell within our body, and it tells our cells exactly how to divide, how to survive.

[00:00:54] For example, the genome in the pancreas, in pancreatic cells will tell those cells how to produce proteins such as insulin that we need to control our blood sugar. And also, the genome within our eye cells will tell the cells how to generate photoreceptors to enable us to see. So the genome is essentially like the ultimate guide that our body uses to tell it how to create everything that we need to survive going forwards.

[00:01:25] Florence: So then, what do we mean by the term 'genomics'?

[00:01:30] Ella: So, genomics is essentially the study of the entire human genome. So we study its structure and also how it functions, in terms of how is this instruction manual being read by the body, and how does that result in healthy human beings that we see today.

[00:01:48] Florence: So when we're talking about studying DNA, lots of our listeners might have heard the term 'genetics', which kind of also refers to the study of DNA and genes, so it might be a little bit confusing.

[00:01:58] So what's the difference between the two? What's the difference between genetics and genomics?

[00:02:04] Ella: So genetics is specifically the study of genes in the genome, and genes are part of the instruction manual, that specifically tell the body to produce a certain thing. So, in our insulin example, there is an INS gene, so, which is the gene in the genome or the instruction manual that specifically tells the cells to make insulin and to produce this product.

[00:02:30] There are many different genes in our genome, and genetics is the study of all of these. In contrast, genomics is the study of the entire instruction manual altogether, so that includes all of the genes in genetics and also everything else in the manual.

So, genetics is limited to the study of these parts of the manual that clearly encode certain proteins or products such as insulin. Genomics is the study of everything all at once, everything under the bathroom sink. So yeah, the confusion I think can arise a lot because historically when we first started looking at DNA and researching genetics, we didn't have the technology to look at the whole genome all at once, and with older sequencing technologies we would focus on particular genes that we knew important for certain diseases.

[00:03:19] So in diabetes, for example, they would instead specifically look at the insulin gene and see how does this influence diabetes, rather than looking at the entire instruction manual at once. Nowadays, we do have that technology, and that is what we do here at Genomics England, just use that to look at the entire genome rather than specific subsets of the genome, so specific genes.

[00:03:45] We can look at everything in its entirety. So, you can kind of think of genomics as a much broader, more complete study of genetics.

[00:03:56] Florence: So speaking of genomic testing, I don't know if you saw, but in the government's 10-year Health Plan that they published last year, they predicted that genomics could play a role in up to 50% of healthcare interactions.

[00:04:08] Could you tell me a bit about why genomics is important in healthcare?

[00:04:12] Ella: So that's a really exciting point, and I think one that we should be all striving towards. So, genomics can play a role in healthcare in so many different ways. I think before going into each of them, it's kind of maybe important just to illustrate that our genomes between two, two people are 99.9% the same.

[00:04:38] So we're both humans. We are both the same species. There is 0.1% difference between two people's genomes, and those differences underlie all the uniqueness that makes a person a unique individual.

[00:04:54] So personality, appearance and also risk to different health and disease outcomes. So that is where the role of genomics can come in, is to understand how the differences between people and their genetic makeup can influence maybe their risk for being more predisposed to developing a condition. Conditions such as Cystic Fibrosis or Huntington's disease that are specifically caused by genetic variants or mutations in genes that directly cause the condition. So it's a bit more maybe obvious, if you like, about how studying genetics in those, in those conditions can directly inform on how they arise, potential ways that we can better treat them.

[00:05:52] So another way that genomics can be used in healthcare is through screening. So this is being piloted at the moment in the Generation Study by Genomics England which is applying whole genome sequencing to newborn babies to look for a range of conditions which are caused by genetic changes, all of which are treatable.

[00:06:13] But importantly, screening will enable clinicians and families to know about these conditions much earlier and start life-changing treatment much, much sooner. So this is kind of already beginning to be, I think it will be showcased with this study in the next couple of years and the power of this in healthcare, I think can't really be overestimated.

[00:06:40] Florence: And finally, just to finish off, is there anything coming up in the field of genomics that you're especially excited about?

[00:06:48] Ella: There are loads of different things that I'm excited about in the field of genomics. I think probably maybe one that's most kind of relevant to clinical care is the possibility of doing more personalised medicine with treatments.

[00:07:05] Often, at the moment, we majority have kind of one treatment for all when treating certain conditions, and sometimes these treatments aren't tolerated well by some people, and also some of these treatments just don't work well in some people as well. Sometimes there's a clear reason for these things, but more often than not, it's not entirely clear why some people might benefit more for some treatments or some people don't respond or don't react well to some treatments as well.

[00:07:35] And understanding more, so there's a whole field about how genomics interacts with drugs and medicines, which is called pharmacogenomics, and its aim is to understand which medicine might be most effective or well-tolerated in certain people based on their genetics. And I think that will be kind of life-changing as well for some people, who are suffering from diseases where the medication is either not effective enough or is also affecting their quality of life.

[00:08:10] Florence: Mm-hmm.

[00:08:10] Ella: Because that is a whole other part of it as well is that sometimes these treatments for certain conditions are really hard to tolerate.

[00:08:19] Other things that I'm excited about are just the technologies that are coming out at the moment mean that we can measure and understand a whole lot more about genomics than we used to be. So now we can say this gene is influencing this disease, but sometimes, you know, it's more complicated, and we now have the technology to measure all sorts of different things, so how our environment can influence our genes and how our genes react with each other.

[00:08:57] So we're just getting, we're getting able to look at more and more, and I think we'll expand our understanding in a lot of conditions that unfortunately aren't very simple.

[00:09:12] Florence: Well, I think we'll finish there. Thank you so much, Ella, for coming on and for taking the time to explain genomics to us.

[00:09:18] Ella: Thank you, Florence. Thanks so much for inviting me, and it was a pleasure to be on the podcast today.

[00:09:23] Florence: If you want to hear more explainer episodes like this, you can find them on our website at www.genomicsengland.co.uk or wherever you get your podcasts. Thank you for listening.

A daily low dose of aspirin could significantly reduce the risk of bowel cancer in people with Lynch syndrome, an inherited condition that increases the likelihood of developing certain cancers.  

In this episode, we explore the findings from the landmark CaPP3 trial, hear from a participant living with Lynch syndrome, and discuss how genomics could help shift healthcare from treatment to prevention. 

Our host, Sharon Jones is joined by: 

Dr Katie Snape, Principal Clinician for Population Health at Genomics England 

Professor Sir John Burn, Professor of Clinical Genetics at Newcastle University 

Drew Hyde, participant in the Cancer Prevention Programme (CaPP3) 

Links: 

Listen to: How can genomics help us understand cancer? 

"I think knowing is always a good thing. And obviously, I wish I'd known earlier, and then, I could have taken more measures earlier on. So I think knowledge is definitely a good thing. And it would be great if more people could be tested or could find out if they were carriers at an early age, I think." 

You can download the transcript or read it below.

[00:00:00] Sharon: Welcome to Behind the Genes. In today's episode, we'll explore the research which shows how a low dose of aspirin can halve the risk of bowel cancer in people with Lynch syndrome. We'll hear about the real-life impact of living with the condition, and look at how genomics can help shape a more preventative approach to care in the future.

[00:00:20] I'm Sharon Jones, and to help us unpack all of that, I'm joined by our guests, Dr. Katie Snape, principal clinician for population health at Genomics England; Sir John Burn, professor of clinical genetics at Newcastle University; and Drew Hyde, a participant in the Cancer Prevention Programme, which is also known as the CaPP3 trial.

[00:00:42] So to start with the basics, Katie, can you walk us through what cancer is in simple terms?

[00:00:50] Katie: Sure, Sharon. So, our body is made up of cells. Those are the building blocks that, that make us as humans and other creatures and plants. And our cells need to keep dividing throughout our lifetime as our bodies are growing and working normally.

[00:01:06] And so we need to have processes in place in our body where our cells can divide, but then also stop dividing when we don't need them to carry on dividing. What happens in a cancer cell is basically that cell becomes abnormal, and it doesn't follow the normal checks and balances and rules of cell division.

[00:01:23] So it starts to divide and grow uncontrollably, and it can start to invade other tissues and obviously, that can cause serious consequences.

[00:01:33] Sharon: We'll hear a lot more from Dr. Katie Snape in this episode. But before we move on, I just wanted to flag that there was an episode of our Genomics 101 explainer series with Katie dedicated to helping us get to grips with how genomics can help us understand and diagnose cancer.

[00:01:47] Do go and check that out. We'll put a link to that in the episode description.

[00:01:54] So the World Health Organization estimates between 30 to 50% of all cancers are preventable. So, Katie, when we talk about cancer being preventable, what does that actually mean? And what's an example of cancer prevention that people might already know?

[00:02:11] Katie: Yeah. So some cancers are due to chance or just mistakes happening as our cells copy.

[00:02:19] Other cancers are because there has been damage to the genetic information within the cell that can be caused by certain things that can cause damage to DNA. So for example, a sort of obvious answer would be skin cancer. Skin cancers can be caused by sunlight, the, the UV light in the sun, and particularly if we burn our skin or, or get sun damage to our skin, increases the chance of us developing a skin cancer.

[00:02:44] So you can think of lots of other examples such as cigarette smoking and lung cancer, and so we know that there are a number of different risk factors that increase the chance of our cells developing damage and becoming abnormal cells and growing uncontrollably. So when we talk about prevention, we might think, well, could we reduce some of those risk factors and therefore reduce the chance of those cells getting damaged and becoming cancer cells?

[00:03:10] So I gave the example of skin cancer. We might put sun cream on if we're going out in the midday sun, for example. That reduces the damage of the UV light onto our skin cells. Or we might help people to go into a smoking prevention programme or, you know, other risk factors, such as we know that being very overweight can increase the chance of cancer.

[00:03:31] We might help people get into more exercise regimes or improve people's diets. So those are the sorts of things that we might do sort of for environmental risk factors. But we also know, particularly in this context, that sometimes people are born, they carry genetic changes within their cells that they're born with, that are inherited, that run through families, and those can also increase the chance of some cancers developing.

[00:03:56] And for those people at higher genetic risk, then we might look to other ways that we might reduce that risk. We can't change the genetic changes in their cells, but we might be able to put things in place to reduce the risk for those individuals, and that might be medication, it might be surgery, or there could be other things that we might be able to offer.

[00:04:15] Sharon: Yeah, and with that in mind, is there anything more, you know, that you can share about some of those risk factors that someone is more likely to develop cancer?

[00:04:25] Katie: Yeah. So actually, the, the biggest risk factor for developing cancer is age. The older we get, the more times our cells have divided, the more chance there is of a copying mistake that, that, that can cause that cell to become abnormal and start growing uncontrollably.

[00:04:41] And that's why cancer becomes more common the older we get. We obviously can't change our aging process. Then, as I've said, sometimes we're born with certain specific inherited factors that increase the risk. That might be one big high-risk genetic factor, such as having a cancer gene that's important for, for that process of cell division that isn't working properly.

[00:05:04] Or it could be that we have multiple lower genetic risk factors that can kind of add up together to increase the risk. And those often interplay with some of those environmental factors that we've talked about, like smoking, for example, or weight, or alcohol or other things like that. So most cancers are due to aging, and then there's a sort of interplay of genetic factors, but environmental factors as well.

[00:05:30] Sharon: That's really interesting to understand. And the focus of this podcast is sort of looking at kind of Lynch syndrome and what findings have come out around aspirin and having a low dose of aspirin. So I want to kind of explore what Lynch syndrome is and, and then bring in Drew to talk about his experience of having Lynch syndrome and how he got involved in the trials themselves.

[00:05:49] So from what I understand, Lynch syndrome is a genetic condition that can make some people more likely to have the chances of developing into bowel cancer. And Drew, this is your opportunity to sort of talk about what that's been like living with Lynch syndrome. And, you know, I'd like to understand more about your story and how it came about that you discovered that you had Lynch syndrome, and to share with our listeners your journey.

[00:06:13] Drew: Yep. So in my case, I discovered I had the colon cancer before I discovered I was a Lynch syndrome carrier Basically, at the age of 50, I noticed some change in my health. You know, I was becoming a little bit more tired. My bowel movements had changed or whatever. So, I went to the GP and the GP basically said, "Well, you're probably too young for cancer, so let's look at other alternatives."

[00:06:37] And I had blood tests and I had low iron, so I was on iron tablets for three months and whatever. Then eventually I went back and finally the GP said, "Well, let's try a colonoscopy." And the colonoscopy revealed that I did actually have colon cancer. And then very quickly I had surgery and, uh, then following that, I kind of asked the question, "Well, why me?"

[00:06:59] You know, I'm only 50, 51. Yeah. You know, why me?

[00:07:02] Drew: And basically, I was told, "Well, it's probably genetics." And then I was referred to, you know, St George's and Katie and I had the test and discovered that I was actually a Lynch syndrome carrier, and that's why, you know, I'd got the colon cancer at the age of 50, so.

[00:07:17] Sharon: I mean, that's quite a journey. I mean, how did you feel when you're already on one pathway and then having to kind of find out more, you know, what was your experiences? What was the impact on your life? How did you, how did you feel?

[00:07:27] Drew: I think I was lucky in that I had a very good surgeon. I had surgery very quickly, so that was the first hurdle.

[00:07:32] Then I had to go on to chemotherapy, and the chemotherapy obviously is far worse than any surgery or anything else that comes before or after. But having got through that, then I went through the St George's onto the Lynch syndrome system. So, the most important thing then really was to basically identify what that meant for me, but also because it was an inherited characteristic, what it meant for my family.

[00:07:57] One thing that was interesting, and I say, you know, the, the GP was saying, "Well, you're too young to have cancer," is that there wasn't any history of cancer in my family, you know, looking at older relatives. So, you know, to be fair to the GP, that wasn't an obvious marker. So basically, yeah, it was let's, you know, find out what it means now going forward.

[00:08:21] Sharon: So, can you just take us back to when you were diagnosed with Lynch syndrome? What sort of guidance were you given at the time about managing your cancer risk?

[00:08:30] Drew: Well, following the surgery, I was given various statistics which were fairly grim on what your percentage survival rate were in three years, five years, 10 years based on the surgery, whatever.

[00:08:39] And that was kind of a bit harrowing. But, you know, assuming I'd get through five years, I felt it was, my chances were quite good. As for myself living with, living with Lynch syndrome, that, you know, I was aware that having had the colon cancer, I then had increased risk of other cancers. So since then, I've been on a screening programme, and I have colonoscopies or gastroscopies every year or two years.

[00:09:04] So that's been very good. So, I believe now that if any other cancers were to appear, I would probably know very early on because they would be detected through a screening process before they got to a point where they would be, you know, maybe too difficult to resolve, so. So that's-- I think the screening programme, has been very, very good.

[00:09:23] The main issue for me was what it meant for my family, being a genetic thing. So very quickly, my children, who were teenagers at the time, were both tested, and they went through some counselling with Katie beforehand, you know, about what it would mean for them to get a positive or negative result.

[00:09:42] Unfortunately, my daughter was tested as negative, but my son was tested as positive, so he's now on the same cancer screening programme, and has colonoscopies every two years. So yeah. The mystery really, though, is where I inherited it from because my father died when I was very young. My mother was in a care home at the time, and I wanted to get her tested.

[00:10:07] And at the time, her GP wouldn't test her on the basis that she was unable to give consent. But fortunately, I had power of attorney, and we could persuade him to do the test. But she tested negative. So I'm assuming I inherited it from my father's side. But most of my grandparents on that side of the family lived into their nineties without any apparent cancers.

[00:10:32] So it's still a bit of a mystery how I inherited it, but what was important for me was to know which side of the family I'd inherited it from because obviously with cousins and whatever on different sides of the family, I wanted to be able to tell them what the situation was. My brother also tested negative, which was a positive.

[00:10:54] So at the moment, it's just my son and I that have the defective gene.

[00:10:59] Sharon: I'm sorry to hear that about your son, but does it-

[00:11:01] Drew: Well, well, I mean, he, you know, he has to go through a colonoscopy every couple of years, which, you know, obviously is not a pleasant experience. But at least he knows that, you know, the first sign of any problem, the medics will be aware of it, and he'll be able to react.

[00:11:16] Sharon: Has it changed your outlook on life, having this window in possibly knowing stuff or not knowing stuff? How has that affected you and, and your son as well?

[00:11:25] Drew: I think knowing is always a good thing. And obviously, I wish I'd known earlier, and then, I could have taken more measures earlier on. So, I think knowledge is definitely a good thing. And it would be great if more people could be tested or could find out if they were carriers at an early age, I think.

[00:11:42] Sharon: Yeah. That is really important. And moving into about the trial more broadly, scientists have known that there's been a link between cancer and aspirin for some time, with fewer cancers observed in people who take aspirin. So coming to you, John, could you share a bit more about the history of inherited cancer research and how the focus of Lynch Syndrome came about?

[00:12:02] Because this isn't new, is it?

[00:12:06] John: No, absolutely, Sharon. And in fact, this story, my story in this space begins 40 years ago when I was one of the geneticists who set out to try and find the genes that we've just been talking about. At that time, the group of patients who were the most obvious to begin with were young people with a condition called familial adenomatous polyposis, or FAP for short.

[00:12:26] And they'd get thousands of polyps in their bowel, and the only way to treat that was to actually remove the whole bowel when they reached adulthood, which is a fairly extreme intervention. And I was running, I was setting up a registry. We were trying to find the gene at that time, and we'd just found it, in fact, but we also were trying to find all the families.

[00:12:44] And I'd taken over responsibility for all the genetic services in the north of England, in the North East and Cumbria. And we'd, I'd started identifying families with FAP, and we went to visit one of those families, and this was the kind of light bulb moment for me because I walked into the room and mum had had her colon removed, and her son, Jonathan, had just had his first colonoscopy at the age of 12, and it was clear.

[00:13:07] And I was about to give them the good news, but as I walked in, I noticed that he had little bumps on his forehead called osteomas, little bony bumps. His mother had them just the same, and it was one of the features of this condition. So I knew he had the gene even though he hadn't yet got the polyps.

[00:13:21] Sharon: Wow.

[00:13:22] John: And it made me think, wouldn't it be nice if we could do something to prevent these things happening rather than just waiting for an operation? And as it happened at the time, I was leading the English end of a big study, which you'll probably be aware of, which we're, we're, we were doing the vitamin study on women with spina bifida babies, and we were just about to identify folic acid as a way of preventing spina bifida in pregnant women.

[00:13:45] So I had these two thoughts in my head. Maybe we could set up a trial like this folic acid trial, and then one of my friends in Edinburgh said, 'Have you seen this paper from Melbourne?' Gabriel Kuhn had just done a big study looking at people with colon cancer. It seemed that people who took a lot of aspirin didn't seem to get as much bowel cancer in Melbourne as those who didn't. So that was the design set up.

[00:14:08] We were applying to Europe for a concerted action, so we had to think of an acronym that began with CA. So I, I came up with Concerted Action Polyp Prevention. But then in 1993, just as we started that trial, we were involved in finding the first of the genes for Lynch syndrome. We had a big family in Northumberland where there were lots of people like Drew's family, and there were three generations of cancer in the family.

[00:14:31] So CaPP2 was immediately born in my head. In 1999, we had our first recruit, and we recruited until 2005. We found, in total, 1,000 people in 16 countries to join in, and we gave them two aspirins a day or two dummy tablets. Two aspirins is quite a big dose, but back in my day when I was a junior doctor, we used to give many more tablets of aspirin to people with arthritis.

[00:14:57] So two tablets wasn't such a big deal. Nowadays, it's seen as a very high dose. And it worked. Basically, to cut to the chase, when we looked in 2010, the people who were getting the aspirin were getting less bowel cancers. In fact, it was a 50% reduction. So the people who took two aspirins had half as many bowel cancers and fewer cancers of other types as well.

[00:15:19] We realised, although, at this point, immediately we saw that it was working, we knew we'd need to do another trial to see whether a smaller dose of aspirin would be just as effective. So CaPP3 began, and the great news is that what we'll be reporting in the journals in the next few days when it gets published, is that the people who were taking  CaPP3 aspirin in any dose were tracking exactly the same as the 600-milligram group in CaPP2.

[00:15:46] So we're pretty sure that it works. We're pretty sure that the small dose is just as good. And the great news was that we had fewer side effects in that group. And so in fact, no one had to go to hospital for a transfusion or anything, you know, like that. Whereas in the 600-milligram group, we had a few people who needed treatment because, as you know, and everyone knows, if you take aspirin, there's a higher chance of having an ulcer that causes a bleed.

[00:16:10] And that was always the anxiety. But people like Drew were courageous enough to take the chance because they knew we needed to know the answer to this. And of course, when you compare it to the risk of getting cancer, taking an aspirin is a relatively small risk.

[00:16:26] Sharon: So, what were your kind of considerations when you were designing the trial, having that knowledge?

[00:16:32] John: Well, the first thing is it has to be fully informed consent, which means that you have to explain to people what that risk is. The important thing about aspirin is that doctors have a much worse opinion of it than it deserves because if you work in a hospital, you'll often see people coming in who've had a bleed.

[00:16:48] It's not always caused by the aspirin. The thing is, if you're coming with a bleed and you're on aspirin, everyone blames the aspirin. Right. About half of them would've happened anyway. In fact, the, the irritation of the stomach is much more of a problem in older people So in fact, the average age of the people in CaPP2 and CaPP3 was about 45, 46 when they started.

[00:17:08] Drew was a little bit older, but, but people in that sort of middle age group are much, much less likely to get into trouble than people in their 70s and 80s. And it's people also who've had a history of ulcers that have a bigger problem. We also knew that if you had a stomach infection called H. Pylori, which is itself a risk factor for cancer, and about one in six people carry that bug, and we knew that if we fixed that with antibiotics, that would significantly reduce the risk of bleeding as well.

[00:17:37] So it was a manageable risk. It was something we could share with people. They knew they were taking a bit of a chance. But actually a good way of putting it in terms of the risk, for people in middle age, the risk of a low dose of aspirin is about the same as the risk of having a colonoscopy, which is very small, but it isn't completely without risk.

[00:17:56] Sharon: Yeah, and Drew, kind of like hearing this sort of incredible, like, backstory about how we've got to these trials and where we are today What was your experience like as a kind of participant of this trial?

[00:18:08] Drew: I understood I was going to be on 100, 300, or 600, but wouldn't know for at least three years, or was it five years? I can't remember.

[00:18:15] And then sometime later in the post we got these packs, and it was ... I remember at the time thinking it was like a rather dull advent calendar - ... in that you'd have the days of the week- ... with the little, with the little windows, and you'd, you'd pop the tablets out three times a day and take them.

[00:18:31] So I did that. I think, you know, I, I don't think I ever missed a day or whatever. Initially, I thought I must be on a really low dose, because I didn't actually notice any side effects. You know, I remember saying to my wife, I said, "Oh, I think I must be on the lowest dose, because I don't see any side effects."

[00:18:46] It was a surprise years later when I was told actually I'd been taking 600, so.

[00:18:51] Sharon: Wow.

[00:18:52] Drew: It was quite an easy experience really.

[00:18:54] John: We had a lot of problems. We had to pack the aspirin in six-month packs, because it was very expensive to pack this stuff up. It cost... We got the aspirin free from the Bayer company, but it cost us more than a million pounds to actually put it in, in the packs to satisfy the regulations.

[00:19:10] Uh, and a lot of people complained that the packs were a bit big and awkward, but that was just, you know, a constraint. But it was not that big a deal once people got into it. But we did get a lot of complaints about the size of the packets, which we couldn't do anything about that.

[00:19:24] Drew: They came regularly through the post, and, you know, so every three months or whatever I got another supply, and I just carried on taking them.

[00:19:30] Yeah, so.

[00:19:31] Sharon: What was going through your mind when you were kind of waiting for this potential outcome, Drew? Because you, like you say, it was, you know, it was a long time taking part. What was... Especially as you were opening your, you know, your package a day, knowing exactly what you were going to get.

[00:19:44] Drew: Well, I, I kind of knew it would be a long-term thing.

[00:19:47] I think I was committed for five years initially. But I carried on taking the aspirin for another probably five years after that. So yeah, I was just sort of happy to take the aspirin and then sort of wait to see what the results would be. As I say, that I didn't really notice any side effects, so I wasn't really worried that it was having any detrimental effect on me.

[00:20:09] So I was curious to see what the, what the results would be.

[00:20:12] Sharon: Yeah. John, the trial has provided like the evidence that, you know, low-dose aspirin can prevent bowel cancer. But are there any challenges that still exist with translating this research into clinic and ultimately patient care?

[00:20:26] John: Well, yes, and I'm going to hand back to Katie, who's actually leading the charge on, on getting it into practice as well.

[00:20:32] But just to say that I, I'm actually now literally on my other computer finalising my bid to go back to Cancer Research UK because we want to go for three more years. Wow. We said that we would follow people for 10 years after they'd finished their ... or after they'd started, so, you know, for at least 10 years.

[00:20:50] So the last person to join didn't finish until 2024, so we won't get to that person. It's Robin and one of my patients. We won't get to Robin's 10-year anniversary until 2029. Oh, yeah. By which time, obviously, Drew will be even further on. But that will give us at least 10 years of follow-up because we know that there is this delayed effect, and that was seen right back at the beginning when people looked, for example, the nurses study in America, where they followed 86,000 nurses and just asked them if they took aspirin.

[00:21:18] And nothing happened for 10 years, but those who were taking aspirin for more than 10 years saw a benefit. So in the general population, it probably takes that long to kick in. And so we need to keep going for just a while longer. It's not as expensive now because we're not giving people aspirin anymore.

[00:21:33] Sharon: Yeah.

[00:21:34] John: But one of the reasons we g- we made Drew's dose blind was because we wanted to know what the side effects would be when you didn't know how much you were getting There's a danger if you're getting a higher dose, you're more likely to complain. And actually, it did work out that the people on the lowest dose had the fewest side effects, even slight side effects.

[00:21:51] The only thing we can't escape from is if you're taking aspirin, you get bruising more easily because it blocks the platelets, which are the little tiny blood cells which plug up little holes in your blood vessels when they leak. The good news is we now know that platelets turn out to be right, a major factor in triggering cancer.

[00:22:09] And so the aspirin, by blocking the platelets, is actually reducing the risk of cancer, but also reducing the risk of cancer spreading in the body. So this is new research, and we've got another big research project in collaboration with a team in Cambridge who are, uh, pursuing this. Also, the other exciting news is that my other partner, Ruth Langley, is running a big trial of people with cancer, and those who are given aspirin as part of their treatment have less likelihood of getting spreading cancer later on.

[00:22:39] So the aspirin is clearly doing something good at many levels in the system. Surprisingly, and we think it might be partly, partly because we used to have a lot of salicylate in our diet, which is what aspirin's made from. And we think that maybe we're putting back something that the body actually was used to having.

[00:22:57] Yeah. But modern diets don't contain any, any salicylate because of the way we prepare our food. So it may well be that a little bit of aspirin's a good thing for everybody, but obviously, that's a choice that each person will have to make.

[00:23:09] Sharon: Yeah. I mean, it's a real powerhouse of a, of a drug essentially, which you're finding out more about its benefits as, uh, as research goes on.

[00:23:18] So Katie, can you just give us a bit of a broad overview of Genomics England's new adults program, which is kind of looking at this sort of area of work and, and what, how can it benefit people?

[00:23:29] Katie: Yeah. Thank you, Sharon. So, the adults programme at Genomics England is being funded by government, and the government wrote about it in the 10-year NHS Health Plan, the Life Science Sector Plan to run a large-scale genomics population study.

[00:23:44] So looking at how we can obtain genetic information from people in the population and look at more proactive and preventative healthcare, and can we generate evidence on where, how, and why the NHS should start applying genomics into kind of more population health measures. So, there's sort of two sides to this.

[00:24:05] So the first is thinking about pharmacogenomics, which is basically about how genetic factors influence how we respond to drugs. So lots of people have had experiences of having side effects from drugs, we've just been talking about that with aspirin, or for drugs not working so well for them. And we know that there are certain drugs that genetic factors can influence whether you should take the drug at all, or if you do, what dose you should take, whether it's going to work for you or not, whether you might be more likely to get side effects or adverse reactions.

[00:24:34] So part of the programme's looking at that. And then the other half of the programme will be looking at sort of is, are the genetic factors relevant for sort of serious and high-risk conditions in the adult population? So we could take bowel cancer as an example of that, a common condition, breast cancer, you know, common cancers or cardiovascular disease.

[00:24:58] We know there are certain genetic factors for some people that have significantly increased their chance of developing those serious adult onset conditions. Can we find those people in the population and then put measures in place to prevent that? So, you know, even just thinking about Drew's story, he didn't have a family history of cancer.

[00:25:16] The first time that he knew he had Lynch syndrome, he'd already developed bowel cancer. And we know that many people that have Lynch syndrome or other high-risk cancer genes are unaware of their status in the population, and so, um, the idea of this program is to really look at, well, if we were to, to look for some of these very high-risk genes in the general population, could we then put measures in place to reduce the chance of them developing the serious condition as a consequence?

[00:25:44] So instead of Drew presenting with his bowel cancer, we'd actually already picked it up, despite the fact he doesn't have a family history, and we'd offered him, let's say, aspirin if we'd known the information at the time, and we could maybe have prevented him from developing bowel cancer.

[00:25:58] So it's really exploring looking at that a little bit more.

[00:26:02] Where can we get genetic information in the population? Where might there be a really well-evidenced, like all the work John's done over 40 years, is really well-evidenced now. Yeah. Yeah. Where are there these opportunities for us to turn the dial on some of these common adult onset conditions?

[00:26:20] Sharon: What other challenges do you think with getting this out there do you see?

[00:26:25] Katie: Uh, I think there's, there's lots of challenges. I think it's a really com- ... complex programme of work. The first thing is that the risks might be different for people in a population than have a family history. So where I've worked for, for years, and John as well in, in clinical genetics, we've seen the highest risk people, the people with lots and lots of cancer in their family because they're the people that are presented to healthcare services. So we've worked out the risks based on that population. It will be really different when we move to the population setting. We'll find fewer people, and the risks might be lower because there might be other factors that are giving them a lower risk. But that's not to say the risk is zero.

[00:27:05] It's probably still raised. So then what we need to do is we need to consider, okay, well, what can we do to intervene, taking into account this change of context from people that we found through clinical services to people that we see in the population. And aspirin is a great example of this.

[00:27:22] So, you know, if we find that someone has a Lynch syndrome gene, then taking aspirin, unless there's a really good reason for them not to take aspirin, is almost certainly going to be low cost to the NHS and really significantly reduce the chance of them developing bowel cancer with a low risk profile. So where are those opportunities?

[00:27:41] And that isn't clear cut, and that's why we need a large scale research programme that can try to help the NHS answer some of those questions, so it can decide how best to spend its money in, in the people that are most likely to benefit from it with the least amount of risk or harm to them.

[00:27:58] Sharon: That makes sense. And, and so, you know, going to you, Drew, what are your kind of thoughts on some of the challenges that Katie's highlighted? And is there anything else that you think needs to be improved in better supporting people living with inherited risk of cancer in the future?

[00:28:14] Drew: In the brief sort of 10, 15 years or whatever since I've been s- suffering, awareness has increased greatly.

[00:28:21] I mean, for example, my GP now knows about Lynch syndrome, whereas I don't think she did when I was first diagnosed, and I think there is a little bit more awareness out there, but I still think it's a lot less than there would be for, say, for breast cancer. So for example, when a high-profile personality reveals they've got breast cancer, you often get information about inherited risks.

[00:28:44] You don't seem to get that with colon cancer. You know, when it's announced that so-and-so has died or is whatever, you don't get that same, you know, it, it might be a genetic thing. I mean, when I was first told people that I had bowel cancer, the response I got usually was, "Oh, poor diet, was it?"

[00:29:04] And I always felt a bit upset, that, you know, actually my diet was fairly healthy. And that was the assumption that people had. So I think anything that gets the message out there that there is a risk, an inherited risk, I'm not sure what the statistics are now, Katie, is it one in 400 people might be a Lynch syndrome carrier or something like that?

[00:29:24] You know, it's relatively high for something that is, if you know in advance you're at risk, you can do something about it. But like me, you know, I waited until it was too late, because I didn't know, and then had to have the surgery, so anything that promotes the message that there is a risk. I know some people don't want to know about their genetic makeup. Obviously, that's a choice. But I think to give people, as many people as possible, the choice must be a good thing.

[00:29:54] Sharon: Yeah, absolutely. And I think one thing I've noticed through this thread is the sort of theme of funding and what gets funding and the amount of time it takes to, to kind of get that funding.

[00:30:05] Is there anything you wanted to add around the kind of funding model, around why some things get funded, you know, uh, more prominent, like Drew's point, obviously, talks about if someone high profile kind of comes forward and says XYZ, that gets the spotlight shone on it, and there might be research going that direction compared to s- to, to other cancers.

[00:30:23] John: So maybe I could speak at that. So partly because of my experience, I've now been made chairman of the grant committee at Cancer Research UK for prevention and population research. And there is a real drive to push more resource into prevention for the obvious reasons.

[00:30:39] Katie: Yeah.

[00:30:39] John: And also, it's got to be remembered, it's very difficult for the drug companies to fund this because it takes such a long time that the drug's- Mm

[00:30:46] out of its patent before they actually get to use it. So, it's very difficult from a business point of view to fund research into prevention. But they are keen to help us, uh, but we really need sort of central government and the charities to focus on prevention if it's going to make a difference.

[00:31:02] And just on Drew's point on diet, I mean, diet is still important even if you have Lynch syndrome. In our CaPP2 trial, the people who were overweight were more than double the risk of cancer. So it's not like an either/or. If you've got a higher genetic risk and you have a bad diet, then that's, you know, is going to contribute.

[00:31:21] But the other exciting thing is, of course, we now have medical ways of treating obesity in, in people. So, one of the interesting areas is whether we should be, in the same way as we are for other high-risk populations with overweight, we should be giving overweight people with Lynch syndrome, help to lose weight because that will also reduce their risk.

[00:31:41] It's also worth just dropping in at the last moment here is that this is also a good news story in terms of treatment and further prevention. We now have a new class of drugs called immune checkpoint inhibitors, which specifically target the types of cancer that Drew had and are much more effective in curing them And also, we've just been given funding to do a project called LynchVax, which I'll be helping with, but it's led by David Church in Oxford.

[00:32:05] And this is developing a vaccine against cancers in people with Lynch syndrome. The great news is it'll probably work alongside aspirin because we know the aspirin is enhancing the immune response. So the two together may make this a curable condition.

[00:32:18] Sharon: That's actually incredible. I mean, that, it gives so much hope for people.

[00:32:23] And I just wanted to find out if you had any more kind of reflections as we close, because we're going to come to the end of our podcast today. If there's anything more that you wanted to share, anything that has been missed, or anything that you want our listeners to know, and I think I'm gonna come to you, Drew, first, because you're the person who's had to sort of live through this and, and go through this journey along the way.

[00:32:41] Drew: I think just basically, if you're not sure, get tested. Obviously, there are financial constraints. I'm sure that running a DNA test is quite an expensive business. But I think if you've got any history of bowel cancer in the family, you've got any concerns about your health, speak to a GP and see if you can get tested as quickly as possible.

[00:33:00] And then, to get a better message out there that there are risks of inherited colon and other similar cancers, so.

[00:33:11] Sharon: Yeah, so it's getting that, messaging out, um, for people to understand more and make those informed choices. And Katie?

[00:33:18] Katie: I mean, I would say that the power of, of our, you know, NHS and our academia and, and our healthcare system has been collaboration.

[00:33:26] Sharon: Yeah.

[00:33:27] Katie: There's so many moving parts. There's commissioners, there's funding, there's the evidence, there's research, there's healthcare implementation. The UK's a really amazing place to work in genomic medicine, and I think that's partly because of the amazing collaborations that we have, and the way that we can translate research into healthcare as John's team have done with this amazing study.

[00:33:48] So let's all keep working together, please.

[00:33:52] Sharon: Absolutely. And John, it feels like this is your lifetime's work.

[00:33:58] John: Well, I've become aspirin man, it wasn't intended. But Katie's done fantastic work in her role as chair of the Cancer Genetics Group in the UK, so we've now implemented a,

[00:34:06] we're the first in the world to really make this an absolute directive to the GPs and all, to all doctors to say, "People with Lynch syndrome need to be offered aspirin." And so that's a great step forward. But we also need to get it into the British National Formulary, and I'm working with their team so that the GPs are empowered to do this.

[00:34:24] It's actually part of their care package. But I would just say we've still got a long way to go. We've now got a national list of all the people with Lynch syndrome, like Drew, to make sure we offer them all a colonoscopy, but there are only 14,000 people after several years of really pushing.

[00:34:40] Sharon: Right.

[00:34:40] John: We think in the national population in all ages, it's about 1 in 300. That's a lot of people. That means there's about 150,000 people like Drew in the country, and we've only found 10% of them. So we can't just rely on family history for all the reasons Drew explained. You know, I mean, Drew's dad probably died of Lynch syndrome, but we don't know because we've lost that record.

[00:35:02] So now we're checking every bowel cancer to see if it might be caused by Lynch, and that programme is now kicking in, and we're picking up a lot more gene carriers as a result of that. But there's still a long way to go to get co- get people aware of Lynch syndrome, to think of it when someone presents with a cancer, not just of the bowel, but in the womb, in the kidney, in other parts of the body.

[00:35:23] It's not just the bowel, but that's the most important group.

[00:35:26] Sharon: Yeah.

[00:35:26] John: So there's still a long way to go.

[00:35:28] Sharon: Where you've come to now is still an incredible achievement, even though we've still got a long way to go, and I don't think we should ever lose sight of that. So we're going to wrap it up there. Thank you to our guests, Katie Snape, Professor Sir John Burn, and Drew Hyde, for joining me today as we discuss cancer prevention.

[00:35:48] If you'd like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app, and thank you for listening. I've been your host, Sharon Jones, and Behind the Genes is produced by Deanna Barac, Florence Cornish, Sophie McLachlan, and Dave Howard at Bespoken Media.

In this explainer episode, we’ve asked Jamie Ellingford, Lead Genomic Data Scientist for Rare Disease, to explain how genomics is helping us better understand rare conditions.

You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel.

If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk.

You can download the transcript or read it below.

[00:00:00] Florence: How can genomics help us better understand rare conditions? My name is Florence Cornish, and today I am joined by our Lead Genomic Data Scientist for Rare Disease, Jamie Ellingford, and he is going to be sharing lots more insights about the topic with us.  

So, I guess before we begin, Jamie, it might be useful if you could explain what we actually mean by the term 'rare condition'? 

[00:00:25] Jamie: Sure. Hi, Florence. So, a rare condition we define as something that impacts one in less than two thousand people, and so that's something that occurs really infrequently in the population. But we know that collectively there's lots of different rare diseases. And so, the estimates are that it's about one in seventeen people in the population that are impacted by some sort of rare disease, of which we think there's over seven thousand.  

But research that uses data that we have here at Genomics England as well as other sources is starting to uncover more and more of these individual rare disorders. So collectively, as I just said, one in seventeen individuals, we think, is impacted by a rare disease, and that equates to almost three and a half million people here in the UK. 

[00:01:15] Most of these rare conditions, we think, have a genetic basis, and perhaps we'll explain a little bit more about what that means.  

[00:01:22] Florence: Yeah, no, it would be great to talk a little bit more about that actually. So as you said, most rare conditions we think have a genetic cause, but I think it might be helpful if you could explain what we mean when we say that something 'has a genetic cause'. 

[00:01:35] Jamie: Of course. So maybe we go back to kind of the basics and kind of how a person is first formed. So, at that point of fertilisation, where the sex cells from mum and dad join, we inherit one copy of our genome from mum and one copy from dad, and it's the order and the composition of these letters in our genome which makes it unique to us. 

Most of that genome is absolutely identical to anyone else in the human population. And a small fraction of it is unique to us and is a combination of things that we've inherited from our mothers and our fathers. And when we think about genetic causes, largely, we look at those differences. And so, what is it that's different in individuals compared to the wider population that could be driving these rare conditions? 

[00:02:23] Florence: So could you maybe explain a little bit more about how people's genetic material, how people's genomes differ from one another? 

[00:02:30] Jamie: So there's lots of different ways that we can observe these genetic differences. So some of them impact individual letters, and we, we may swap a single letter for another.  

[00:02:41] We can also remove small sections, so it may be that a run of three or four of these letters is deleted from someone's genome. But on the opposite end of the scale, we can also see huge changes in how that genetic material looks.  

So perhaps a good way to think about this is as a story. And so if our, if our genome is like any kind of good fiction story that you would read, then we can have spelling mistakes that impact single words, 

[00:03:09] that impact whole paragraphs, or some which impact whole chapters. Lots of these different types of genetic causes can give rise to genetic conditions. And so even the smallest changes, the smallest spelling mistakes in words, can still give rise to rare genetic conditions. 

[00:03:26] Florence: We actually have a previous podcast episode that explores that topic in a lot more detail. So if listeners want to check that out, it's called "Are genetic conditions always inherited from parents?"  

So obviously, Jamie, we spoke quite a lot about DNA and genetic changes there, and this episode is all about how genomics specifically can help us better understand rare conditions. 

[00:03:47] Um, but what actually is genomics as a field of study?  

[00:03:53] Jamie: So simply put, genomics is the study of the whole genome, or at least as complete a picture of the genome as we can possibly represent. And so in the case of rare disorders, we use genomics to try and understand what the genome looks like from an affected child. 

[00:04:12] And, um, in some cases, we're also able to look at the whole genomes of their relatives, so perhaps their mother and their father. And we use this information to best detect and best prioritise variants that we think are giving rise to their genetic condition. But how we've done that has evolved and advanced a lot over time, has gone hand in hand with these remarkable developments in technology. 

[00:04:37] And so a decade ago, maybe 15 years ago, the state-of-the-art technologies were to look for single spelling mistakes or to be able to survey complete genes. Nowadays, we can generate data for the whole genome, and we can do that fairly cheaply, we can do it quickly. And we rely on computational algorithms and the development of bioinformatic resources to be able to properly make sense of that data. And so there's, there's three key aspects of bioinformatics, this discipline of integrating informatics, computational technology, with biology. 

[00:05:17] And so the first is, having generated some data, can we appropriately find where in the human genome that data should map to? Having done that, can we detect these differences, these small or large changes in the human genome, for that individual? And finally, can we start to make sense of those changes? Can we understand whether they exist frequently in a population or they're unique to this family and predict what potential consequence they have on a gene's function?  

[00:05:47] Florence: Mm. So there's obviously lots of different components of genomics, but how can all of them help us better understand rare conditions specifically? 

[00:05:59] Jamie: So as we've already touched upon, most rare diseases have a genetic basis, and we think that that estimate could be something like 80% of rare diseases have a genetic component to them. And what we've seen over the past decade and further, is that genomics has really transformed the discovery of new genomic conditions. 

[00:06:20] And so being able to look at data from the whole genome has allowed us to understand new genetic, types of genetic changes, changes in new genes, which could cause these rare conditions. And what we've seen recently is that move and that transformation from genomics as a discovery tool to a tool that we use routinely and so essentially, we've moved this technology from research laboratories into the NHS and the UK healthcare system. We've really come a long way, and so, whilst we see that the amount of genetic diagnoses that we can find is really dependent on the specific disorders, broadly, we find genetic diagnoses for somewhere between a quarter and half of the individuals that are referred. 

[00:07:10] What that does mean is that there's still 50% of individuals out there that get referred to these services with a rare condition where we don't find an obvious genetic answer through the implementation of genomics within healthcare.  

[00:07:24] Florence: Do you have, um, a specific example you could share of where genomics has had a real impact in our understanding of rare conditions? 

[00:07:33] Jamie: So I think all of us that have worked in this space for, for a long time have our own individual examples. We're recording this in 2026, and over the past two years, there's been a flurry of discoveries of genes which don't directly encode proteins, that cause a certain type of rare conditions, and so we call these non-coding genes. 

[00:07:54] These genes have recently been described as a cause of kind of wide neurodevelopmental disorders, as a cause of genetic blindness, and there's ten at the time of recording, distinct rare conditions another example that I wanted to elaborate on is something that was really personal to me because it happened really early during my development as a, as a researcher and as a, somebody who looks at genomic data very early in my career, and really kind of had a profound impact on how I think about genomics and how it can be applied. 

[00:08:28] And so this was an individual who was referred with a certain type of rare condition. And through the analysis of their genomic data, we identified a genetic variant in a certain gene. At the time of testing, they were in their early teenage years, and when we looked at the scientific literature, what this suggested is that other symptoms were going to develop before the age of 20. 

[00:08:52] And so at this point, genomic testing had been done in a really critical window for that individual and allowed them to be referred to specialist centres, and to be managed appropriately, and that's really ended up in a good outcome. 

And what's becoming more and more frequent is the opportunity for genomics to inform enrolment to clinical trials, the development of targeted treatments, and we hope that in the next decade or so we'll see an increased flurry of those activities.  

[00:09:22] Florence: Yeah. So I guess, would the headline be that genomics allows us to see changes in the genome that maybe more traditional genetic tests wouldn't have allowed us to see, and then that in turn helps us with our approaches to rare conditions? 

[00:09:37] Would you say that that's accurate?  

[00:09:40] Jamie: So it certainly gives us that opportunity.  

[00:09:42] Florence: So I think we'll finish there, Jamie. Thank you so much for coming on, for taking the time to speak with us. It's been very insightful.  

[00:09:50] Thank you very much. A pleasure to chat.  

[00:09:52] Florence: If listeners want to hear more explainer episodes like this, you can find them on our website at www.genomicsengland.co.uk or wherever you get your podcasts. 

[00:10:03]

When people think of midwives, they often think about pregnancy and birth, but the reality of modern midwifery is far broader. 

In this episode of Behind the Genes, our guests explore the many different roles midwives play across healthcare, from clinical care and safety improvement to research and genomics. 

The conversation looks at how midwives are helping shape the future of maternity care through research, supporting families to make informed decisions about genomic testing, and contributing to studies like the Generation Study. 

Our host, Sharon Jones is joined by: 

Katie Handley - maternal and child health clinical lead for the Generation Study, 

Fiona Smith - research midwife for the Generation Study at Rosie Hospital in Cambridgeshire 

Jess Fletcher - safety and quality midwife at the Rosie Hospital and a participant on the Generation Study 

You can find out more about the Generation Study via the study’s official website. 

 “ The more brave we are as midwives, and the more that we're willing to be curious about what we can do to improve our care, the better we're going to be at our profession. All midwives want to do is to provide safe, effective care that is what is in the best interest of that woman. We are advocates for women and for their families.”

You can download the transcript or read it below.

[00:00:00] Sharon Jones: Welcome to Behind the Genes. How is genomics changing midwifery, and what role are midwives playing in shaping the future of genomic healthcare? Also, do midwives just deliver babies, or is their role much broader than many people realise?

[00:00:16] My name is Sharon Jones, and in this podcast we cover everything from cutting-edge research to real life stories in genomic healthcare.

[00:00:23] Joining me today are Katie Handley, Fiona Smith, and Jess Fletcher. Katie is Maternal and Child Health Clinical Lead for the Generation Study, Fiona is a research midwife for the Generation Study at Rosie Hospital in Cambridgeshire, and Jess is a safety and quality midwife at the Rosie Hospital, and a participant on the Generation Study.

[00:00:42] Together, we'll be exploring how midwifery's evolving, where research fits into clinical practice, and what genomics mean for maternity care now and in the future. We kicked off this one by asking Katie what roles midwives play day to day.

[00:00:56] Kate Handley: I think when people think of midwives, they think of helping a lady to have a baby.

[00:01:01] We're there for the birth, we're there to catch the baby, but it is so, so much more than that. We're there from the moment a woman becomes pregnant or even before that. We can help with prenatal, uh, preconception care. We're there all the way through the pregnancy, for the birth, and then afterwards as well, we'll look after the lady, her family, until, until we hand the baby and, and her over to the health visitor or to whoever's next in her care pathway.

[00:01:25] But that's just looking at clinical midwives for the... that are involved directly in that particular pregnancy. There's midwives doing all sorts of other roles. I think I'm a really good example of that. So I am a clinic- I was a clinical midwife. I am a registered midwife, but now I work as a clinical lead, so I'm using my midwifery background and my midwifery skills in a research environment, but to help people who don't know as much about midwifery to implement a research study, and how we can make a research study real in a clinical environment.

[00:01:59] So that's one example, but there are so many other things, and we have midwives doing screening roles and lots and lots of midwives working in research as well.

[00:02:08] Sharon Jones: That's interesting. I've got a couple of friends who are midwives, and I would never have known, like, the extent and scope of their role.

[00:02:14] Kate Handley: Yeah, I think people might be surprised to hear that you can be a midwife but never actually even see a pregnant person. So we have midwives that are academics, for example, or midwives that are lecturing at universities, midwives that are working behind the scenes in risk and governance and looking after the safety aspect.

[00:02:30] Sharon Jones: That's amazing. I would never have known that. So Fiona, how has your role as a midwife changed over the years? Because you've gone through quite a bit of a transition, haven't you?

[00:02:39] Fiona Smith: I have. Before I even became a midwife, I was, I was nursing. That nursing pathway was not academic, as we now have to undertake academic training to become a midwife.

[00:02:50] So we... the training was very different. It was very hospital-based, and this is what you do, this is what we do. You would do some observation. You'd have a go. You'd get signed off. That really was my nursing background, and then when I started to explore midwifery, and it was much more academic, and that I was going to do the university pathway, I doubted that that would be something that I could actually even contemplate.

[00:03:15] Moving forward 20 years, here I am. I've had various roles: community midwife, running birth centres, and then more recently, the last six years, joining a university hospital which has a, a, a big emphasis on research and academic training, brought in lots of students, medical students, and others. I saw some research that was happening at the hospital and became quite curious, took the plunge, and the last two years I've been working as a research midwife, which was a real surprise to me to find that this is where I am, and to actually be working on a genomic study is an even bigger surprise.

[00:03:57] If you'd asked me 20 years ago that this is where I'd be, I'd probably have laughed and said, "No, that's not something that I could even be contemplating."

[00:04:07] Sharon Jones: That's fascinating. It's fascinating, the journey you've been on and how midwifery and nursing training has evolved more broadly. So Jess, how does that compare with your own journey in midwifery?

[00:04:19] Jess Fletcher: Similarly, actually, like off the back of what Katie and Fiona are saying, you do kind of go into midwifery thinking that your career is going to very much look like providing labour care and catching babies, which is a wonderful part of the job. And that is very much my background, is that I have been, like, a labour and delivery midwife, usually on the birth centre or in the community doing home birth.

[00:04:43] So, and never in my wildest dreams did I think that I would pivot and go into something specialist. I think you k- ... Well, in my case, certainly, I kind of fell into it, quite literally, uh, because I broke my ankle and then had- ... to work from home for quite some time. I was offered to be off sick, and I was working at a new trust, and I kind of wanted to, so to speak, keep my foot in the door.

[00:05:05] And I said, "Oh, I, there must be something I can do from home." And they set me up to do some auditing, which quite frankly, a few years prior I would've ... Yeah, you couldn't have paid me all the money in the world to do auditing. And then, lo and behold, I found it so fascinating, not just the process, but kind of seeing how that then would kind of implement us in clinical practice.

[00:05:28] And now I'm a safety and quality improvement midwife. My office is on a birth centre though, so it does mean that I still very much work clinically. So yeah, so a similar story.

[00:05:38] We're such a highly skilled profession that we can apply it in so many different ways. And now of course, I'm on maternity leave with my third baby.

[00:05:46] Sharon Jones: Congratulations.

[00:05:47] Jess Fletcher: And so taking a little, a little break, but really lovely to talk about it all today actually.

[00:05:52] Sharon Jones: Yeah. Thank you. Thank you for sharing that.

[00:05:53] So as mentioned, alongside clinical care, midwives are, are playing this increasingly important role in research.

[00:06:00] And though it's something that people might not necessarily realise and they might not associate with the profession, I'd love to explore what that actually means in practice and how midwives have become involved in this space. So Katie, where does research fit in with midwifery today, and how do midwives get involved in that space, and is that something that all midwives are engaged with?

[00:06:21] Or is it a more specialist kind of pathway?

[00:06:23] Kate Handley: It can be a specialist pathway, but I think what's really, really important to realise here is that every single midwife is involved in, in research, whether they realise it or not, or midwifery care, has got to be evidence-based. Everything we do is evidence-based, um, because that's what keeps midwifery care as safe as it possibly can be, and we can only get that evidence base from doing research.

[00:06:46] So even if midwives aren't taking part in a research study themselves, if they're not, you know, getting consent from people to do research studies, the care that they are giving comes from research that has been done in some space. Even if that's not within the UK, it's research that has been done. So research is incredibly important.

[00:07:03] That's how we evolve, um, our care, how we evolve our pathways, evolve our guidelines is through that, through that research.

[00:07:11] Sharon Jones: So can you talk to the audience about what is a research midwife versus a clinical midwife?

[00:07:16] Kate Handley: So a clinical midwife generally is somebody that will have hands-on care during the antenatal and intrapartum or, or postnatal period.

[00:07:24] A research midwife, often that will be someone who still works on a ward, in a hospital, but is helping to put research into place. So that may be running a study and taking consent from women to take to be part of that study, and then doing whatever the study needs. Or it can be actually conducting their own research, it can be writing, it can be an academic form of, of midwifery as well.

[00:07:49] It's really, really important, and it really depends on the hospital and on the trust how much that research is incorporated into the clinical care, and sometimes it can be quite separate. But both very, very important. And the Royal College of Midwives are really, really trying to work on making research part of general midwifery care.

[00:08:09] It's something that undergraduates need to do now as part of their, their degree, which all midwives have to do a degree to become a midwife. They have to do research. They have to be involved in research. Midwives in their first year of being qualified should still be having a research role and looking at how research can broaden their clinical skills, and it's something that should be going on throughout their entire career

[00:08:32] Sharon Jones: Yeah, that's great.

[00:08:33] Fiona, what does a typical day look like in your kind of research-focused role?

[00:08:38] Fiona Smith: Firstly, just to say, when I moved from a clinical role into the research role, I thought I was going to miss that kind of adrenaline rush that does come with being a clinical midwife. And so I thought, it-- this is so quiet, it's just a really very different pace.

[00:08:54] But actually, there are deadlines and things like that. So yeah, on a daily basis, it is really... it's a really busy day.

[00:09:02] So we can be answering our emails and inquiries about research. We're liaising with the clinical team, so I'm involved in a screening study, so we, we need to collect samples. So we go and collect samples, we register those samples.

[00:09:19] We're then approaching our patients or ladies that come in to have scans, or they might be in the antenatal ward. We liaise with the community midwives who might have people that want to take part in the study, so we do a lot of communication with the women through that way.

[00:09:38] And having the background as a midwife, having that holistic approach has really, really broadened, you know, and really helped support my role as a midwife. Having-- transferring those skills has been incredible.

[00:09:53] Sharon Jones: So what kind of studies do midwives support?

[00:10:03] Fiona Smith: So apart from the genomic studies, uh, because a, a lot of genetic-based studies are going on within our trust. Where they're looking at trying to understand why things happen and see if there's a genomic h- component that might be attributed to conditions. We've got observational studies where we use lots of questionnaires to ask patients about their experiences. We've got interventional studies, so that could be testing a new drug or an interventions, just testing something that might work and, and might build that into that evidence base to -

[00:10:32] You know, to put into practice. I'm really surprised at the portfolio of, of studies that is available. So they could be, um, not just maternity-based, but the obviously obstetric-based and studies, and we do a lot of gynae studies as well, so we work alongside the gynecologists.

[00:10:51] Sharon Jones: So Katie, genomics is becoming more visible in healthcare. How is that showing up in maternity care more broadly?

[00:10:58] Kate Handley: So I think what's really important to note here is that genomics has always been really important in, um, maternity care.

[00:11:04] It's just that midwives potentially didn't know that they were doing it. Um, so from the very moment that we book a pregnancy, so when, when a woman has her first appointment at, you know, 8-10 weeks, we're already using genomics to plan her, her care. So we're asking about family history. We're asking about a predisposition to, um, heart disease, for example, or heart conditions or diabetes, or things that we will then use to plan a, a pregnancy going forwards.

[00:11:30] We're looking at, yeah, family history. Uh, we're doing screening, antenatal screening, which, uh, some of the tests there are genomic based. And then after the 20-week scan, for example, if we find some sorts of congenital abnormalities, we can use genomic testing then to find out what, what is potentially wrong with the baby and what we can do about it.

[00:11:50] And then moving forward throughout that pregnancy, genomics is also really important in bereavement care. So if there's a history of multiple miscarriages, for example, or if a baby is stillborn, we can use genomic testing to find out any reasons for that and to hopefully improve, um, care for that woman going forwards as well.

[00:12:08] The big thing that's going on at the moment for genomics in maternity and midwifery is, uh, newborn screening At the moment, our newborn screening is looking for, uh, nine or 10 different conditions, um, which are very rare, but do have some treatment if they are caught early. What we're doing with whole genome sequencing, where genomic testing is looking to see whether we can find a much larger range of conditions much earlier in the baby's life to see if we can improve outcomes for those babies.

[00:12:38] And so that's a huge role of genetics. Yeah, absolutely.

[00:12:41] Sharon Jones: So Fiona, how confident do midwives generally feel about discussing genomics with families, even though Katie's just said it's not sort of nothing new and it's always sort of been there, maybe badged differently. How do you feel that midwives feel about talking about it when they are talking to families?

[00:12:59] Fiona Smith: They probably don't feel, you know, very confident speaking about it. And I definitely wouldn't have been able to speak confidently in a comm- as a community midwife, uh role. But what, what is great about the hospital is that we know that they're where to refer to. So we've got the fetal medicine midwives who are available at any point to talk us through what to say to women or to help us, and the screening team are really useful and are on hand to, again, help us navigate that and what to, you know, what to say to parents.

[00:13:36] We've got a really good patient record system as well, so we should, we, you know, the notes are very accurate. We should be able to, uh, follow through from what the parents have been told already, what their journey looks like. So although we're not 100% confident, but I think the students coming through, they're going to have res- acquire a lot more knowledge.

[00:13:59] And also our midwifery standards imply that genomics should be part of that everyday conversation that midwives are having. So although it isn't something that's familiar within our parlance. I think going forward, I think it definitely will become much more mainstay, if you like, just-

[00:14:20] something that we will be naturally talking about because you know, let's face it, genomics is here. I want to say being part of the Generation Study team, because I'm quite visible and everybody seems to know me because I've, I've transitioned from one role to the other, you know, we are visible. I'm stopped quite a lot, and midwives are asking the questions and, "Well, why?"

[00:14:43] You know, "Why is it important?" Just even to be able to talk about, you know, that we've, we're building up a database, data that's going to be used for future reference. Being able to have those conversations with, with the midwives now will really help that confidence. It's something that I didn't think I'd ever have a conversation with.

[00:15:02] I don't have very deep conversations, but I know where there are people if I do need to get those answers.

[00:15:09] Kate Handley: No, um, I think going with what, what Fiona says, I think it's really interesting that pregnancies generally now are becoming a lot more complex. Um, we're seeing a lot more high-risk pregnancies, and I think that we will find that, that women and their families, their knowledge of genomics is probably going to increase as well because we're going to see genomic testing more widely in, in healthcare, and that's going to have to then flow through into maternity and into midwifery knowledge because women are coming in with more of a baseline knowledge as well.

[00:15:40] And when we're dealing with more complex pregnancies and more high-risk pregnancies, genomics is a huge part of that. We, you know- Mm ... because we're going to be looking at things like pharmacogenetics, where we can see what kind of treatments are going to be best for these women and how that can then impact on their pregnancies.

[00:15:56] I think epigenetics is becoming more and more talked about and more interesting in maternity, you know, and it's really important that midwives are aware that we've been speaking for years about the impact of smoking, alcohol, all of the outside factors on a pregnancy. But when we actually consider that from a genetic point of view, and that these genetic changes could potentially then be feeding down through generations, it brings a whole new level to the, to that aspect of maternity that, that midwives do need to know about.

[00:16:27] So I, I think Fiona's right. I think that there is a lack of confidence when you hear the word genomics, but as soon as you explain what genomics actually means, then that confidence can be boosted. And I think that as we go forwards, there's so much work being done in the training and education systems for universities, for midwives that are already practicing.

[00:16:53] We're really trying to, to improve that confidence and competence. Within the Generation Study, that's something that we're working really, really hard on, is to make sure that we're giving all the really appropriate training to the midwives that are involved in it, and that's not just the research teams that are, uh, that are asking consent from the participants, but that's for the wider team as well to, to help the, the midwives who are taking samples, for example, understand why they need to take that particular blood sample, the importance of taking it at the time, and what that means for the family and how that can impact on, on the future.

[00:17:26] Sharon Jones: So it's kind of a whole literacy raising across the piece, isn't it? Just to sort of go back to a couple of things you said there, for those who might not know who are listening, would you mind just explaining about, um, pharmacogenomics and epigenetics? Because I just wanted to make sure that we put it across for everyone who might not know those terms.

[00:17:44] Katie Handley: So epigenetics, for example, that's looking at how environmental factors can influence gene expression. So how the impact of something on the outside can impact what's going on in the inside. And we do know now that, that environmental factors can change the way that your genes in your body work. So that can not only impact the individual, those gene changes can be passed down through to the next generations as well.

[00:18:12] And we know that this can happen across the placenta, so what a mum does in her pregnancy can then change the gene expression of the baby as well. And then we've got pharmacogenetics, which is looking at how certain drugs and certain treatments can be individualised for personal care. So looking at a person's genome, looking at the way their individual genes all work together, and then seeing how specific drugs, specific treatments can be used for that individual rather than as a population level.

[00:18:43] Sharon Jones: That's really helpful. Thank you. So Jess, did being a participant on the Generation study change how you approach conversations as a midwife? 'Cause you're kind of like in both camps, which is a quite rare and interesting position to be in.

[00:18:58] Jess Fletcher: Yeah, it's been a really amazing insight actually. Um, it definitely will, and I think this will kind of, uh, piggyback off of what, uh, Fiona was, and Katie was saying about how confident are midwives when, when they're counselling for studies.

[00:19:10] So, you know, I'm, I'm particularly passionate about, and I mean mostly all midwives are, but I'm very passionate about making sure, ensuring that the people that we're providing care for are making truly fully informed decisions. Like very informed, you know, not, not just signposting, but making sure that they understand, you know, what does this mean for you?

[00:19:31] Like what could these results mean for you and your family? Because I think the, I mean, this is a wonderful approach in some ways, but very often we'll be met with people under our care that go, "Yes, of course. Like sign me up for absolutely everything." Like the, the more we know, the better. Mm. And actually, I think it's- Then having that discussion about, well, actually, knowing things can be very complex because it then opens up a lot more questions for you and your family, and I'm not, not suggesting that ignorance is bliss, but actually, you know, really ensuring that they truly understand what this could mean for them and for their babies.

[00:20:09] And the positives of that as well, what this could, you know, how this could really optimise your, your child's health throughout their life. And so for me, you know, I've always been very passionate about discussing studies with, with the people that I'm caring for. But it was really amazing actually being on the other side and applying that to me and my family and my baby.

[00:20:32] What I talk about this, you know, every day, and actually Fiona's right, they're a very visible team, and it's, and it's amazing because, well, for Fiona, because often if she's on the birth centre and a bell goes, she's often having to get stuck in clinically in emergencies anyway. So you get a little touch of that every now and then, don't you, Fiona?

[00:20:49] But it means that they are very accessible. I felt I had a really good understanding, but suddenly it felt very personal. And I can't quite remember how it went, whether Fiona approached me or I approached her, because we see each other so frequently at work. I think that when my pregnancy became, you know, common knowledge, correct me if I'm wrong, Fiona, it was more of a like,

[00:21:11] "Oh, here we are again meeting in a corridor. Oh, yay, I can do the study," type of thing.

[00:21:16] Fiona Smith: I think you came and sat in my office to do the consent.

[00:21:19] Jess Fletcher: And that was a really interesting part for me because, of course, as a midwife, you know, you don't get to see behind the curtain, so to speak, as much as what I got to do as a participant. So I got to come and sit with Fiona in the office with the team.

[00:21:33] It was wonderful from the perspective as a pregnant person, but also as a midwife, I've learnt quite a lot, and I think that, of course, I'm not at work, you know, currently, but when I return, um, certainly the way in which I signpost and, and the way that I talk about research and this, and the Generation Study in particular, all of that will still be there.

[00:21:54] But I, I do wonder if there's going to be, there's a much deeper understanding on my side And yeah, I think undoubtedly that's probably going to, uh, I will adapt how I then, um, talk to people about the study because I've, you know, had more of an opportunity to delve into, you know, some of the great stories that have come out of it

[00:22:15] and some of the real successes that have been shared from the team. I think there was very recently a case where a genetic condition was found, but it was found so early that actually his quality of life is now going to be, you know, really optimal. And I just found the whole story really fascinating. So I suppose it's opened a bit more of a door for me on a personal side and a professional side to read more, and I found it, you know, that much more intriguing, I suppose.

[00:22:41] Sharon Jones: Yeah, I suppose it piques that curiosity and also just hearing those good news stories. Yeah, kind of showing how, you know, a family's life has been impacted in such a, sort of the early part instead of having that massive journey of finding out what possibly could be the challenges a child is facing and not knowing, having that result so much early on makes such a difference to, to a family.

[00:23:03] Jess Fletcher: Absolutely. And, and also just I think as well, because I work in safety and quality, you know, the, a huge part of my role is looking at patient experience. It's been great to be on the other, I mean, yes, this is third time around, but this was the first time that I had a baby at this current trust that I'm working at.

[00:23:18] So, you know, it was really great being on the other side of that and actually seeing how streamlined it was, how the communication between the research team and myself as the pregnant person, how efficient it was that I was receiving various things in the post and through the kind of patient portal that we use.

[00:23:36] And then how swift the results were as well.

[00:23:39] I mean, that, I'm sure that can vary between participants, but for me, you know, you're so caught up in the, in the newborn weeks that you can almost forget you were part of a study. And then I, and then I got the results through and I went, "Oh my gosh, of course. I mean, what a wonderful thing to participate in."

[00:23:54] And the fact that we're still a part of it really until he's 16 years old and beyond, if he consents. So I just think, yeah, it's been a really great experience to participate, but it will undoubtedly change how I then talk about it moving forward because I've had this personal experience.

[00:24:11] Sharon Jones: Yeah, yeah. Kind of hearing that seamless experience kind of builds on the trust that, you know, you have in the study and, and, you know, the sort of people behind it essentially, which is, is really important when you're kind of giving your genomic data essentially.

[00:24:25] So it's, it's really good to hear that. Yeah. So looking to the future, it's clear that genomics is going to play a growing role in healthcare, so I'm really interested in what that means for midwifery. How might the role evolve, and what does that mean in terms of supporting midwives who need to feel confident in this space?

[00:24:43] Kate Handley: I think that genomics is going to have a huge impact on maternity care, and I think it's going to be really great to see how we can really improve the personalised care that we give to individuals that come through the maternity system. We try really hard as midwives to treat every single woman that comes through our care as an individual, to personalise her care plan, and the more information that we've got about somebody, the more information they want to share, the better we can look after them and the better care plan we can actually put in place.

[00:25:17] So by using any genomic data that we have, we can really improve that, that care. If whole genome sequencing does become part of newborn screening in the future, we can potentially find these babies every day that we think may have a rare condition, and we can do something to improve their quality of life.

[00:25:37] Sharon Jones: Yeah. That's, that's incredible. If the study continues and, and rolls out into healthcare, that will be, um, such an impactful and, like, really game-changing Sort of effect for everyone.

[00:25:49] Kate Handley: It will be really impactful and game-changing as long as we do it properly, and I think what Jessica was saying is really, really important about genomics can have huge implications for families and for people.

[00:26:00] So it is so important that people understand what they're signing up for in any kind of genomic testing, not just in the Generation study. And because of that, the training that we give to midwives in the future, and I say we, I mean that as universities, as midwives teaching each other, as all education bodies, the information and the education that we give to midwives is so important because the only way that we can ensure that the individual signing up for any kind of genomic testing are giving informed consent is by making sure the people taking that consent are fully informed as well.

[00:26:34] As us going forwards, if all midwives can just embrace genomics, everybody will help each other build to a position where we can provide really, really good care.

[00:26:44] Jess Fletcher: From the perspective of, yes, a midwife, but also someone that's fairly freshly postnatal, you know, decision-making during a pregnancy is actually really complex.

[00:26:53] There's a lot of grey areas, and I think that decision-making, that can be really tough if it's your first experience or if you're suddenly dealing with something in a pregnancy that is more complex than you anticipated, and there's no right or wrong answer, and you're having to make decisions with perhaps not quite all of the information.

[00:27:14] I mean, Katie touched on the non-invasive prenatal testing when we are, yes, we're, we're screening in, in early pregnancy for a number of conditions, but the non-invasive prenatal testing, it's not 100%, but it, it gives us a lot more to work with. And I think everyone interprets risk differently, don't they?

[00:27:34] So if you're given a one in something chance that your baby might have a condition, it's very, can be really difficult and, and a very emotional process to make decisions around that. What's my next move going to be? So if we have the ability with genomics to actually provide a lot more information and kind of broaden the decision-making process, then -

[00:27:59] that can only, I think, be a positive thing, or give them the opportunity to then opt out of any further testing, which is equally as important.

[00:28:08] Sharon Jones: Giving you as much agency to choose without pressure and just giving you as much knowledge that you need to make the best decision that you can in that, in that situation.

[00:28:17] Jess Fletcher: Yeah, the situation that's right for, for you and for your family, which is going to look different for every family, isn't it?

[00:28:23] Kate Handley: And midwives are in such a privileged position because of the amount of time that we potentially spend with a woman and to get to know that woman. We have got the ability to actually explain things in a way that, that woman may be able to understand as well, as long as we've got the knowledge.

[00:28:40] So, you know, genomics can be really, really complex. Mm. And it can be really difficult for people to understand, even if we do have all that information. So by using the relationships that we can build with those women, I'm thinking particularly community midwives or people during the labour room that are building these really intense relationships really, really quickly.

[00:28:58] We really need to be able to use that to our advantage when it comes to actually information given to, to patients as well, and to women and their families.

[00:29:06] Jess Fletcher: We're in a really unique position in our profession because we're very highly skilled at having to explain something quickly and under pressure, and try and capture and provide all of the information possible.

[00:29:18] But also we work as part of a multidisciplinary team, so we've got access to a lot of professionals that can provide input and help with educating the patient, but also educating us. So our knowledge is always growing, especially around kind of research and genomics in, in particular. Yes, it's becoming so much more a part of midwifery.

[00:29:41] So I think, yeah, I, I feel really lucky that, you know, we're not just in a profession that, it, you know, we do this day to day and that's it. It just feels like that there's always a chance to learn and to grow as a professional, and then impart that on the people that we're caring for

[00:29:57] Sharon Jones: So coming to my final question, if you could leave our listeners with one message about midwives and research, what would it be?

[00:30:05] Fiona Smith: I'd say even though it does sound like it's a scary subject, I think we need to embrace it. The technology that's there, you know, we've got it. It's here to stay. Yeah, just don't be scared. Be curious and excited.

[00:30:22] Jess Fletcher: Yeah, and I, I do think... I, I think midwives in general, I feel like when we qualify, we also qualify with a bit of an inferiority complex, you know?

[00:30:30] That we worry about what we don't know, and actually, you're right, Fiona, we really mustn't be scared of this. We, we carry so much knowledge. Our profession is, as we've already spoken about, it's so... It's amazing how much we actually do as midwives and, and how broadly we practice, that actually it's absolutely okay if we're not confident in delivering this information, or we're not confident about, you know, where research is going.

[00:30:55] The most important thing is, is, is accessing support so that we can make sure that we are, for ourselves and for the people that we're looking after, we have a- as deep of an understanding as we possibly can.

[00:31:06] Sharon Jones: Definitely, and, and talking about sort of multi-skilling and, and being kind of pretty amazing, Jessica, I'm, I'm very impressed with our guest that has joined us on, on your shoulder

[00:31:26] Jess Fletcher: The generation study baby!

[00:31:28] Sharon Jones: A newborn baby. A Generation Study baby, that you've, uh, done this entire podcast with your baby.

[00:31:32] Jess Fletcher: He's done amazingly well, hasn't he?

[00:31:35] Sharon Jones: Yeah, he's done very well, and that really does, uh, sort of show the power of your, of your skills, not just a midwife, also as a mum, as we know.

[00:31:43] Jess Fletcher: Always a juggle.

[00:31:45] Sharon Jones: It certainly is. Katie, did you want to add any more about leaving our listeners with a, a message about midwives and, and research?

[00:31:50] Kate Handley: Yeah. I, um... Fiona used the word curious, which I think is, is brilliant. I think if we can all be curious about research, we're already onto a winner. And Jessica said about being brave. The more brave we are as midwives, and the more that we're willing to be curious about what we can do to improve our care, the better we're going to be at our profession. All midwives want to do is to provide safe, effective care that is what is in the best interest of that woman.

[00:32:07] We are advocates for women and for their families. We want what they want. But in order to do that, we have to embrace research, along with safeguarding and health and safety, I feel like it needs to be everyone's responsibility. You know, we all have this responsibility to improve care for, for the women that we're looking after, and research is at the heart of that.

[00:32:30] And the more research that we can do, that we can be part of and that we can implement, the better that our profession will be and the safer that our women will be.

[00:32:39] Sharon Jones: Thank you. Thank you to our guests, Katie, Fiona, and Jessica, and Jessica's newborn baby, for joining me today and sharing your insights into the evolving role of midwives.

[00:32:50] It's been fascinating to hear how midwives are not only supporting families day-to-day, but also contributing to research and helping to bring genomic medicine into routine care. If you'd like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app. Thank you for listening.

[00:33:06] I've been your host, Sharon Jones. Behind the Genes is produced by Deanna Barac, Florence Cornish, Sophie McLachlan, and Patrick Wallace at Bespoken Media.

In this explainer episode, we’ve asked Kate Stanbury, research midwife on the Generation Study, to tell us more about the vital role that midwives play.

You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel.

If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk.

You can download the transcript or read it below.

Florence: What does a midwife do? My name is Florence Cornish, and today I'm joined by Kate Stanbury, who is a research midwife working on the Generation Study, and she is going to be explaining the vital role that midwives play.

So, to start off with Kate, I'm sure that most of our listeners will have heard of midwives before or maybe even like come across them in healthcare settings, but it would be good to hear from you more about what a midwife actually does.

Kate: Yeah, absolutely. So, a midwife is someone who provides care and support to birthing people and their families during pregnancy, labour, and after birth as well. A lot of people just think of midwives as delivering babies, but we do a lot of other stuff around that as well.

There are lots of different types of midwives as well, so we've got community midwives that might come out to your home and see you and your baby. We've got specialist midwives who might have a certain medical condition that they're experts in. And then we also have people like myself who are research midwives as well.

Florence: So, you talked about a couple of different types of midwives there. Could you tell me more about the specific type of midwife that you are?

Kate: Yeah, so a research midwife, as the name suggests, does research, so I also look after women during their pregnancy as well. A lot of the research that we do relates to sort of high-risk pregnancies, and so we approach women for specific research studies that might have a particular characteristic that we are investigating.

We also recruit patients to these studies. We look after them during their pregnancies when they're taking part in the studies, and then we follow them up after their birth as well to collect data and see if what we've done as part of the research has had an impact.

Florence: And so you are working on the Generation Study, and if any listeners want to learn more about that, then they can check out our previous Genomics 101 episode, What is the Generation Study?

Kate, could you tell me a little bit more about what led you to become a midwife? Like what was the journey that you took to get to this point?

Kate: Yeah, so I started my degree in midwifery straight out of college. So, I was quite young at the time, I was 18. I went to university, did a three-year degree to get a bachelor's of midwifery.

That is probably the most common route that people go through in terms of to become a midwife, but some people choose to do adult nursing first, and then they can do a conversion course into midwifery, which is about 18 months long as well. So that's usually the most common route.

I was sort of drawn to the occupation because one of my close friends, her mum was a midwife, so I used to see her in their lounge. They used to have lots of cards and things that she would display from patients that she'd looked after, which was really nice.

Florence: And so what makes you passionate about working in the Generation Study and what motivates you in your role?

Kate: I think being able to have an impact on how we can improve care, I think that's really important. Obviously everything that we do is evidence-based, so that's what really drew me to become a research midwife and being able to take part in research studies that we can look back on in the future and say, “oh, I was part of that, and because of that we've been able to improve the lives of families and babies going forward.”

That's really important to me.

Florence: Yeah. And, and just building off of that, have there been any specific moments that have like stood out to you during your time working on the study?

Kate: Yeah, I think being able to see it from its starting point, so as a research midwife as well as working on the Generation Study. I sort of see people in clinics, I tell them about the study and then they might sign up to it.

 But then the other half of my role is a re regional results coordinator for the Generation Study. So I might then see that patient come through to me with a condition suspected result, and being able to follow that family through their sort of patient journey, from consent taking part in the study to getting their baby into NHS care, that potentially we might be able to give treatments really quickly for a baby that might have a really rare genetic problem.

And being able to see that that process works really well and improves those outcomes for that baby and that family. That's really, really something that's amazing to see and what I'm really looking forward to in the future as well.

Florence: Yeah, I can imagine that like getting to experience the kind of like end to end, like see it.

Kate: Yeah, absolutely. Yeah.

Florence: Super cool.

Kate: We don't often get to follow the babies up in my line of work, so it's really nice.

Florence: Yeah. Yeah. I'd also be curious to know has being involved in the Generation Study changed how you think about the space? So whether that's genomics or research or even your role as a midwife, do you see any of those things differently now?

Kate: Yeah, absolutely. I think before I started this role with the Generation Study, genomics was sort of there, but I didn't really know the full details and like much in depth knowledge about genomics and how that could impact on people's health and their pregnancies and their health going forward into the future.

But since doing this job, I think it's really opened my eyes to how much of an impact it can have and how much I think it could potentially improve the lives of generations to come.

Florence: Well, thank you so much, Kate. I think we'll finish there, but I really appreciate you taking the time to come on our podcast.

Kate: Thank you. Thanks for having me.

Florence: If you want to hear more explainer episodes like this, you can find them on our website at www.genomicsengland.co.uk or wherever you get your podcasts.

Thank you for listening.