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The G Word

By: Genomics England
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  • Summary

  • We are Genomics England and our vision is to create a world where everyone benefits from genomic healthcare. Join us every fortnight, where we cover everything from the latest in cutting-edge research to real-life stories from those affected by rare conditions and cancer. With thoughtful conversations, we take you behind the science. You can also tune in to our Genomics 101 explainer series which breaks down complex terms in under 10 minutes.
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Episodes
  • Marie Nugent: Genomics 101 - Why is diversity important in genomics research?

    Marie Nugent: Genomics 101 - Why is diversity important in genomics research?
    Apr 17 2024
    In this explainer episode, we’ve asked Marie Nugent, Community Manager for the Diverse Data Initiative at Genomics England, to explain what diversity is and why it's important, in the context of 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, feel free to contact us on info@genomicsengland.co.uk. You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/006-Why-is-diversity-important-in-genomics-research.docx Naimah: Why is diversity important in genomics? Today, I’m joined by Marie Nugent, who’s an engagement manager for the Diverse Data Initiative at Genomics England, and she’s going to explain more. So first of all, Marie, let’s start at the beginning. What is diversity? Marie: I think it’s sort of a fiendishly seeming simple question, isn’t it, what is diversity, and I think you’ll get just as broad a range of answers as the people you might ask that question to. But for me, you know, it’s really got to be about how we do things. So to me, diversity is about recognising that there’s maybe a limited way in which certain things work, or the way in which we might go about doing certain things, and it’s also limited in terms of who’s involved in that and who might benefit from that. So, in the broadest sense, I think diversity means recognising the limitations of maybe what you currently do, and really looking for how can we open that up a lot more to provide the space and opportunity for a broader range of people and voices and experiences to really be brought into that and shape it. Naimah: And can you tell me a bit more about what diversity means in the context of genomics? Marie: I find this absolutely fascinating in the context of genomics, because genomics is really about how do we understand, you know, how our DNA, as an entire piece of information, is building us and shaping us as people, and having an impact on our lives, and, you know, for us predominantly our health. And the way in which we currently think about grouping people in genomics is unfortunately still very, very heavily influenced by social understandings of how people group together, not necessarily anything that’s really about your genetic ancestry, for example, which is very different. So at the moment, you know, it’s an interesting thing to play with and think about because in genomics it’s absolutely crucial that we understand the broadest sense of human diversity in terms of genetics and genomics, and only by doing that can we start to really fully understand what it means to be distinct, and therefore how small changes in DNA can have a massive impact on people’s health. So, diversity in the context of genomics has to actually completely change the very fundamental ways in which we currently understand how people group together, so it’s really getting at the heart of that academic thinking about the topic. But it’s more than that, of course, as well, because as I’ve sort of already mentioned about what diversity means more broadly, it’s got to be about how we do things and who’s involved in that, and who benefits from it. So, in the context of genomics, it’s playing at the ideas of how we even understand how people relate to each other and how they’re different from each other, as well as how we do things. It’s a really complex but fascinating topic, to be honest, to be able to look at and study in some way. Naimah: How does the inclusion of diverse populations contribute to improving genomic research? Marie: Yeah, so following on from what I’ve just said, we fundamentally need to include everyone, you know. In order for us to really understand what genetic ancestry means and what difference looks like across different groups, and how that impacts health, we have to be able to capture, as best as we possibly can, you know, what true genetic diversity looks like in people. So, including as many people as possible who are different from what we currently understand is absolutely crucial. It’s the only way in which we can progress this area. And as I say, that’s in terms of how we think about it maybe academically and what we can do in terms of research, and what we understand, but it’s got to also be about the practice and how we do things. So, there’s involving people and having good representation of people in, say, data, but we have to think about how we’re involving people in how we do things and how we understand things, and how we make decisions about these things too. Naimah: So, for these large groups of people, what are the challenges and barriers for including everyone? Marie: So, I think there are a lot of challenges and barriers that hinder the inclusion of a broader range of groups of people ...
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    9 mins
  • Ellen Thomas: Genomics 101 - What is genetic or genomic testing?

    Ellen Thomas: Genomics 101 - What is genetic or genomic testing?
    Apr 3 2024
    In this explainer episode, we’ve asked Ellen Thomas, Interim Chief Medical Officer at Genomics England, to explain what genetic and genomic tests are, why someone might do a test, and how they are performed, in less than 10 minutes. 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, feel free to contact us on info@genomicsengland.co.uk. You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/005-What-is-genetic-or-genomic-testing.docx Naimah: What is genetic or genomic testing? Today, I’m joined by Ellen Thomas, interim chief medical officer for Genomics England, who’s going to explain more. So, first of all Ellen, what is a genetic test? Ellen: Well, genetic tests examine a person’s genes to see if they have any changes in their DNA which might explain their symptoms. We all have DNA in most of the cells of our bodies, we inherit it from our parents and pass it on to our children. DNA provides the blueprint for our genes, and the proteins which build and run our bodies. Nearly all of our DNA is exactly the same across all of us, but around 5 million out of our 3 billion DNA letters are different, and each of these we call a genetic variant. The pattern of genetic variants that we all carry helps to make us who we are, and genetic testing is designed to examine some of these variants to help inform our healthcare. Naimah: So, why are they sometimes called genetic tests and sometimes called genomic tests? Ellen: Well, the words genetic and genomic are often used in exactly the same way, but broadly, genetic tests are usually used to look at just one or a small number of a patient’s genes, while a genomic test will look at hundreds or even thousands of genes at the same time. In general, it’s fine to use either. Naimah: If you want to hear more about the difference between genetics and genomics, you can find another explainer episode with Rich Scott on our website, which goes into more detail. Okay, so coming back to you, Ellen, what are the reasons we might do a genomic test? Ellen: Some rare health conditions are caused by DNA variants in our genes, conditions such as cystic fibrosis, Huntington’s disease or sickle cell disease. In these 3 conditions, there is usually just one gene that is responsible, the same gene for all patients. That means that you can often find the DNA variant which has caused a patient’s symptoms by doing a test which looks just at that gene, or even sometimes just at a part of the gene. But for other genetic conditions, a variant could be found in any of dozens or even hundreds of genes, which could cause the same condition or a group of conditions, and examples of that include familial forms of epilepsy or developmental disorders in children. For these conditions, to find an answer you often need to do a broader genomic test, looking at many genes at the same time, and also sometimes in between the genes. Finding the variant in a patient’s DNA which has caused the condition is useful, because it helps understand how the condition is passing down in the family, and whether it could affect anyone else in the family in the future. It is also increasingly used to work out which treatment an individual patient might respond to best. Genomic tests are also used to help diagnose and treat cancer. A tumour develops and spreads because new variants in the DNA build up inside the tumour, which are not present in the patient’s healthy cells. By testing the DNA of the tumour, you can sometimes understand more about why it happened and what treatment might be most effective. Naimah: So, can you tell me a bit about what sort of questions you can and can’t address with genomic testing, and how has this changed over time? Ellen: Well, at the most basic level, if a condition is not caused by DNA variants, then a genomic test will not provide any useful information. So, doctors use genomic tests when they suspect that a patient might have an explanation of their symptoms in their genes, but we don’t always find an answer. Sometimes patients with a genomic cause and those with a different cause may have very similar symptoms. We do constantly learn more about the ways in which genetic variants cause disease through research. Patients may have a gene variant causing their condition, but it’s so rare that it hasn’t yet been discovered, or so complex that it can’t be seen in the test analysis, so the test won’t identify the cause. Sometimes new understanding through research can then find the answer, which can be many years after the patient first developed symptoms. Naimah: And how are these tests performed? For example, are they a blood sample? Ellen: Yes, for most rare ...
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    5 mins
  • Shaun Pye, Sarah Crawford, Sarah Wynn and Naimah Callachand: Shining a light on rare conditions

    Shaun Pye, Sarah Crawford, Sarah Wynn and Naimah Callachand: Shining a light on rare conditions
    Mar 27 2024
    Joey was diagnosed with DYRK1A syndrome at the age of 13, through the 100,000 Genomes Project. DYRK1A syndrome is a rare chromosomal disorder, caused by changes in the DYRK1A gene which causes a degree of developmental delay or learning difficulty. In today's episode, Naimah Callachand, Head of Product Engagement and Growth at Genomics England, speaks to Joey's parents, Shaun Pye and Sarah Crawford, and Sarah Wynn, CEO of Unique, as they discuss Joey's story and how her diagnosis enabled them to connect with other parents of children with similar conditions through the charity Unique. Shaun and Sarah also discuss their role in writing the BBC television comedy drama series 'There She Goes' and how this has helped to shine a light on the rare condition community. Unique provides support, information and networking to families affected by rare chromosome and gene disorders. For more information and support please visit the website. You can read more about Joey's story on our website. "Although we’re a group supporting families and patients, actually a big part of what we’re doing is around translating those complicated genetics terms, and trying to explain them to families, so they can understand the testing they’ve been offered, the results of testing, and really what the benefits and limitations of testing are...just knowing why it’s happened, being able to connect with others, being able to meet others, but actually often it doesn’t necessarily change treatment." You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Shining-a-light-on-rare-conditions.docx Naimah: Welcome to the G Word. [Music] Sarah Crawford: But I would also say it’s okay to grieve the child that you didn’t have that you thought you were going to have. I just think that’s so important. And I think for me, the most difficult thing in the early couple of years was feeling like I couldn’t do that because nobody appreciated that I’d actually lost anything. [Music] Naimah: My name is Naimah Callachand and I’m head of product engagement and growth at Genomics England. On today’s episode, I’m joined by Shaun Pye and Sarah Crawford, who are parents of Joey, who was diagnosed with DYRK1A syndrome at the age of 13, and Sarah Wynn, CEO of Unique, a charity which provides support, information and networking to families affected by rare chromosome and gene disorders. Today, Shaun and Sarah are going to share Joey’s story, and discuss how their role in writing the BBC comedy drama There She Goes has helped to raise awareness of people with rare conditions in mainstream culture. If you enjoy today’s episode, we’d love your support. Please like, share and rate us on wherever you listen to your podcasts. So first of all, Shaun and Sarah, I wonder if you could tell us a bit about Joey and what she’s like. Shaun Pye: Yes. So, the medical stuff is that she’s got DYRK1A syndrome, which was diagnosed a few years ago, which means that she’s extremely learning disabled, nonverbal. Sarah Crawford: Yeah, autistic traits. Shaun Pye: Eating disorder, very challenging behaviour. She can be quite violent. She can be quite unpredictable. Doubly incontinent, let’s throw that in. She’s 17 but she obviously has a sort of childlike persona, I would say, you know. She sort of likes things that toddlers like, like toys and that sort of thing. But that’s the medical thing. What’s she like, she’s a vast mixture of different things. She can be infuriating, she can be obsessive, but she can be adorable. Occasionally, she can be very loving, especially to her mum. Sarah Crawford: She’s very strong willed, you know. Once she knows she wants something, it’s impossible to shift her, isn’t it? So, she’s got a lot of self-determination [laughter]. Shaun Pye: So, her obsession at the minute, or it’s fading slightly, which is quite funny, is that she’s become obsessed by – there’s a toy called a Whoozit that she loves, but she became obsessed by the idea of – she was typing buggy baby Whoozit into her iPad, so that’s how she communicates. She’s got quite good literacy skills. Sarah Crawford: Yeah. Shaun Pye: And we figured out eventually that what she wanted was she wanted her mum to take her to the park to find a buggy with a baby in it that also had a Whoozit in it that she could steal, and when Sarah explained to her at some length that it was not yours, she would say, “It’s not yours,” that drove her insane with excitement, at the idea that she could steal another child’s toy. So, it’s a good example of her because it’s funny, and, you know, it is funny, and she’s so cheeky about it and she flaps her hands, she’s very hand flappy, and she sort of giggles and she gets really excited, but, you know, the 2,000 time she asked to do that, and we have to walk to Mortlake Green near our house, and to the point where – again...
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    42 mins
Social Sciences Biological Sciences
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