Behind the Genes By cover art

Behind the Genes

By: Genomics England
Listen for free

  • Summary

  • We are Genomics England and our vision is to create a world where everyone benefits from genomic healthcare. Introducing our refreshed podcast identity: Behind the Genes, previously known as The G Word. 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.
    Copyright 2021 All rights reserved.
    Show more Show less
Episodes
  • James Duboff: Genomics 101 - How do pharmaceutical companies use genomic data for drug discovery?

    James Duboff: Genomics 101 - How do pharmaceutical companies use genomic data for drug discovery?
    May 22 2024
    In this explainer episode, we’ve asked James Duboff, Strategic Partnerships Director at Genomics England, to explain how genomic data can be used in drug discovery. 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/How-do-pharmaceutical-companies-use-genomic-data-for-drug-discovery.docx Naimah: How do pharmaceutical companies use genomic data for drug discovery? Today, I’m joined by James Duboff, a Strategic Partnerships Director here at Genomics England, to find out more. So James, first of all, what is genomic data, and how does this relate to our genes? James: Let’s start with a simple explanation of what we mean by genomic data and our genes. So, every cell in our body contains a complete copy of our genome. Now, genome is kind of a mini instruction manual that describes exactly how to make you. Now, those instructions are written in a language called DNA, which is over 99 percent identical in every single human on the planet, so you and I are actually genomically very, very similar. The differences, however, are called variants, and they’re what make us unique. Now, some of those variants can actually be very dangerous, and they can code for things like rare genetic diseases or even cancer. So, we need to read in detail exactly what’s going on in your DNA and in your genome to see where changes are and where those variants really are, and we do this by sequencing the genome. So, if you get a DNA sequence, that’s effectively an electronic readout of your genomic data, which is your genome in computational form. Now, understanding that and working with that is still a relatively new field, so what we try and do is connect the genomic data, your genome, with health information, such as hospital records and what you’re presenting with in clinic, if you’re in a patient setting, and look at those together to give context to those variants in the genome. So, genomic research is actually where we look at how genes and physical outcomes could be linked. So thinking of, you know, biology and physiology term, what does a variant exactly do and how might it cause a disease. Naimah: You mentioned both the genome and whole genome sequencing, and if our listeners aren’t too sure exactly what they are, they can listen to some of our other explainer episodes with Greg Elgar, who explains these concepts. So James, next could you tell me why are pharma and biotech companies interested in genomic data? James: Ultimately, pharma and biotech companies are interested in genomic data because that really tells them what’s going on within the blueprint or that mini instruction manual of an individual. So, pharma and biotech have dedicated research teams that focus on genomic research, and they look through genetic databases across the world, such as Genomics England and others, to really understand the role of the genome in their target disease areas. By looking at those, that helps them develop new drugs and tools to specifically diagnose, treat and also even cure these diseases. Naimah: So, how exactly do they do that? Can you explain it in some simple steps? James: I think there are four key areas that they need to focus on. So, starting with the first, where, whereabouts on a genome should they focus? Now, the way that a pharma company would do this, or any researcher really, is by taking two populations of people. So, you’d take a population who have a known disease, and you’d compare that to people without. Now if you’re looking at the genomes of people with the disease and those without the disease, you can kind of play spot the difference between those two, and understand whereabouts on the genome variants appear for the disease population and not for the healthy or undiseased control group. Now, when you do that, you can kind of pinpoint exactly whereabouts you see variants only in that patient population. That helps you identify your target, and that’s known as target identification, which is essentially pinpointing that spot on the genome that’s linked only to the disease. Once you know that, you can use that as a potential target for a new drug. So, once you’ve found that variant, the next step was, what does that variant do? Is it potentially overproducing something? Is it activating a promoter and therefore making more and more and more of a gene product that, you know, might be toxic inside a person if you have too much? Even too much of a good thing could be a bad thing. So, is that the case? Or does that variant cause an underproduction or something to just be not actually made by your body at all? So, if that variant...
    Show more Show less
    13 mins
  • Professor Sir Jonathan Montgomery, Dr Latha Chandramouli and Dr Natalie Banner: Why do we need to consider ethics in genomic healthcare and research?

    Professor Sir Jonathan Montgomery, Dr Latha Chandramouli and Dr Natalie Banner: Why do we need to consider ethics in genomic healthcare and research?
    May 15 2024
    Ethical considerations are essential in genomic medicine and clinical practice. In this episode, our guests dive into the details of ethical principles, highlighting how they can be brought into practice in the clinic, whilst considering the experiences and feelings of patients and participants. Our host, Dr Natalie Banner, Director of Ethics at Genomics England, speaks to Professor Sir Jonathan Montgomery and Dr Latha Chandramouli. Jonathan is the Chair of the Genomics England Ethics Advisory Committee, and a Professor of Health Care Law at University College London. Latha is a member of the Ethics Advisory Committee and the Participant Panel at Genomics England, and is a Consultant Community Paediatrician working with children with complex needs. "You asked why ethics is important and how it operates, I suppose the main thing for me is that these are tricky questions, and you need all the voices, all the perspectives, all the experience in the room working through at the same time. You don’t want to have separate discussions of things." You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Why-are-ethical-considerations-crucial-in-genomics-research-and-clinical-practice.docx Natalie: Welcome to Behind the Genes. Jonathan: The first difference is that the model we’ve traditionally had around clinical ethics, which sort of assumes all focus is around the patient individually, is not enough to deal with the challenges that we have, because we also have to understand how we support families to take decisions. Families differ enormously, some families are united, some families have very different needs amongst them, and we have to recognise that our ethical approaches to genomic issues must respect everybody in that. Natalie: My name is Natalie Banner and I’m the Director of Ethics here at Genomics England. On today’s episode, I’m joined by Chair of our Ethics Advisory Committee, Professor Sir Jonathan Montgomery and Dr Latha Chandramouli, member of the Ethics Advisory Committee and the Participant Panel, who’s also a community paediatrician working with children with complex needs. Today we’ll be discussing why ethical considerations are crucial in genomics research and clinical practice and what consent means in the context of genomics. If you enjoy today’s episode, we’d love your support. Please like, share and rate us wherever you listen to your podcasts. At Genomics England, we have an Ethics Advisory Committee, which exists to promote a strong ethical foundation for all of our programmes, our processes, and our partnerships. This can mean things like acting as a critical friend, an external group of experts to consult. It can mean ensuring Genomics England is being reflective and responsive to emerging ethical questions, especially those that arise as we work with this really complex technology of genomics that sits right at the intersection of clinical care and advancing research. And it can also ensure that we are bringing participant voices to the fore in all of the work that we’re doing. I’m really delighted today to welcome two of our esteemed members of the ethics advisory committee to the podcast. Professor Sir Jonathan Montgomery, our Chair, and Dr Latha Chandramouli, member of our Participant Panel. So, Jonathan, if I could start with you, could you tell us a little bit about your background and what you see as the role of the ethics advisory committee for us at Genomics England? Jonathan: Thanks very much, Natalie. My background professionally is I’m an academic, I’m a professor at University College London, and I profess healthcare law the subject that I’ve sort of had technical skills in. But I’ve also spent many years involved in the governance of the National Health Service, so I currently chair the board of the Oxford University Hospital’s NHS Foundation Trust. I’ve spent quite a lot of time on bodies trying to take sensible decisions on behalf of the public around difficult ethical issues. The most relevant one to Genomics England is I chaired the Human Genetics Commission for three years which was a really interesting group of people from many backgrounds. The commission itself primarily combined academics in ethics, law and in clinical areas, and there was a separate panel of citizens think grappling with things that are really important. Genomics England has a bit of that pattern, but it’s really important that the ethics advisory committee brings people together to do that. You asked why ethics is important and how it operates, I suppose the main thing for me is that these are tricky questions, and you need all the voices, all the perspectives, all the experience in the room working through at the same time. You don’t want to have separate discussions of things. My aim as Chair of the advisory committee is essentially to try and reassure myself...
    Show more Show less
    43 mins
  • Professor Matt Brown: Genomics 101 - What is personalised medicine?

    Professor Matt Brown: Genomics 101 - What is personalised medicine?
    May 8 2024
    In this explainer episode, we’ve asked Professor Matt Brown, Chief Scientific Officer at Genomics England, to explain what personalised medicine is and how it could change the way we treat genetic conditions and cancer. 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/What-is-personalised-medicine.docx Naimah: What is personalised medicine? I’m joined by Matt Brown, chief scientific officer for Genomics England, to find out more. So, first of all, Matt, can you tell me, what is personalised medicine? Matt: So, personalised medicine is about giving the right dose of a medicine and the right medicine to the right person. So, it’s exactly the opposite of one size fits all. It’s what doctors have been trying to do ever since we had effective medicines, that is generally looking at the patient, what disease have they got, what factors are there about the patient that can help judge what dose they should give and for how long, of which medicine. Naimah: So, people often refer to this as precision medicine. Is this the same thing? Matt: Generally, the two terms are used interchangeably. I think precision medicine is more specifically about the dose perhaps, but effectively they both mean the right medicine at the right dose for the right person. Naimah: And how can we predict what treatment will suit each individual patient best? Matt: Well, to some extent, of course, this depends on the disease the patient actually has. We also know from a patient’s history how they’ve reacted to similar medications in the past. So for example, some patients have lots of problems with anti-inflammatories, other patients don’t, so if you give an anti-inflammatory to somebody who’s had problems with them before, you’re likely to cause the same problems all over again. So nowadays, we have much, much better ways, other than trial and error, to predict what treatment will suit a patient best, and in particular, development of genetic markers to look at how their condition is going to respond best, and how the patient is going to tolerate the medicine you give them, and what dose you should be giving them. Naimah: How could personalised medicine change the way we treat genetic conditions and cancer? Matt: So, I’ll talk about cancer first up. In the past, we used to treat cancers based on the organ from which the cancer actually arose, and the more we’ve learnt about what the genetic mutations are that cause cancers, the more cancer treatments are being decided based on the genetic mutation which is driving the cancer, and this has proven to be more effective than just looking at the organ from which the cancer arose. It turns out then that some medications which were only being used for specific cancers, are actually useful across multiple cancers that are driven by the same genetic mutations. In lots of other common diseases though, we now know a lot about genetic variants which predispose people to adverse drug reactions, and so we can use genetic tests to predict who’s going to get those adverse drug reactions and avoid them. And similarly, we also know about genetic determinants of how people metabolise and, in many cases, activate medications, and that helps us a lot learning about what dose to give people. Naimah: And how far away are we from seeing this routinely in clinical care? Matt: We are seeing it in routine clinical care in some pretty narrow settings. So, there are genetic tests available for enzymes which are involved in activation of particular chemotherapy 5 agents. So, DPYD testing, for example, is widely used to predict people’s likely response to a class of chemotherapy agent called fluoropyrimidines, or 5-Fluorouracil is a common one, and the genetic test basically picks out a group of people, a small number of people who are likely to have severe adverse drug reactions to that class of medication, and that’s been a really big success. We also use it for picking some other severe adverse drug reactions to medications like gout medications, HIV medications and so on, but generally it’s pretty narrow. What we want to get to the point is where we have people tested in advance of them needing medications, so that when they go to the doctor to be seen about a particular condition, the doctor already has the genetic test available to them, so the doctor can say if the medication is safe and what dose to use. This is what we call pre-emptive testing. Naimah: That was Matt Brown explaining what is personalised medicine. If you’d like to hear more explainer episodes like this, you can find them...
    Show more Show less
    4 mins
Social Sciences Biological Sciences
Show more Show less

What listeners say about Behind the Genes

Average customer ratings

Reviews - Please select the tabs below to change the source of reviews.

Audible.com reviews

Amazon reviews
No Reviews are Available