Épisodes

  • Expanded Carrier Screening: How Is It Used? What Are the Ethical Implications?

    Expanded Carrier Screening: How Is It Used? What Are the Ethical Implications?
    Jan 12 2026
    This episode of the Progress Educational Trust (PET) podcast discusses the use of expanded carrier screening to test prospective parents, and/or donors of sperm or eggs, for gene variants that could potentially lead to ill health in future children.

    This discussion – which originally took place at the PET Annual Conference – is chaired by Sarah Norcross (Director of PET), with contributions from:

    ⚫ Sara Levene (Consultant Genetic Counsellor and founder of Guided Genetics)

    ⚫ Professor Jackson Kirkman-Brown (Science Lead at the Birmingham Women's Fertility Centre)

    ⚫ Dr Heidi Mertes (Chair of Belgium's Federal Commission for Medical and Scientific Research on Embryos In Vitro)

    ⚫ Professor Cathy Herbrand (Principal Investigator at PRECAS)

    PET is grateful to Reproduction in the Age of Genomic Medicine: The Emergence, Commercialisation and Implications of PReconception Expanded CArrier Screening (PRECAS) – a project based at De Montfort University – for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
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    51 min
  • Rare Metabolic Diseases: Advancing Understanding, Improving Outcomes

    Rare Metabolic Diseases: Advancing Understanding, Improving Outcomes
    Dec 15 2025
    This episode of the Progress Educational Trust (PET) podcast discusses how to improve diagnosis, treatment and support for people affected by rare and inherited metabolic diseases.

    The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:

    ⚫ Jonathan Gibson (Lead for Campaigns and Communications at the charity Metabolic Support UK)

    ⚫ Dr Srividya Sreekantam (Consultant in Paediatric Metabolic Medicine at Birmingham Women's and Children's Hospital NHS Trust)

    ⚫ Professor Evangeline Wassmer (Consultant in Paediatric Neurology at Birmingham Women's and Children's Hospital NHS Trust)

    ⚫ Professor Frances Platt (Professor of Biochemistry and Pharmacology at the University of Oxford)

    ⚫ Dr Julien Baruteau (Consultant in Paediatric Metabolic Medicine at Great Ormond Street Hospital for Children)

    All of us who live, breathe, eat and think are able to do so thanks to our metabolism – the set of chemical reactions via which substances are transformed inside our bodies, in order to sustain the functioning of our cells, tissues, organs and systems.

    Our metabolism enables us to obtain usable energy from the food that we consume, and then get rid of toxins that are left over. All of this is in turn dependent on our DNA, which tells our body how to manufacture certain molecules that make metabolism possible.

    A vast range of diseases can disrupt human metabolism, and thousands of these diseases can be inherited. Such inherited metabolic diseases are rare, in the sense that the precise cause and consequence of each disease occurs in a relatively small number of people. Collectively, however, inherited metabolic diseases are common.

    Many inherited metabolic diseases affect the central nervous system, but such diseases can potentially affect any of our bodily systems. The impact of such diseases – on children, adults and families – can be devastating.

    In this podcast, experts and advocates – including the pioneers of relevant medications, and of a gene therapy that involves genome editing – discuss how best to address challenges posed by rare and inherited metabolic diseases.

    Aspects discussed include diagnosis, treatment, support and broader public understanding.

    PET is grateful to Amicus Therapeutics for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
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    1 h et 32 min
  • Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?

    Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?
    Nov 24 2025
    This episode of the Progress Educational Trust (PET) podcast discusses how we might improve access to genetic and genomic testing, and related services, for people and families affected by rare disease.The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:⚫ Dr Sarah Wynn (Lead for Genetics and Genomics at the NIHR Exeter Biomedical Research Centre)⚫ Miranda Durkie (Chief Medical Officer at Genomics England)⚫ Professor Emma Baple (Lead for Genetics and Genomics at the NIHR Exeter Biomedical Research Centre)⚫ Dr Ellen Thomas (Chief Medical Officer at Genomics England)⚫ Adam Clatworthy (Co-Founder of CRELD1 Warriors)A disease that affects fewer than one in 2,000 people is generally considered 'rare'. However, such rare diseases are so common in the aggregate that they affect around one in 17 people at some point during their lives.Four-fifths of rare diseases are known to have a basis in people's genomes, either in inherited DNA or in de novo variants (differences in DNA that owe nothing to the previous generation). For this reason, genetic and genomic testing – ideally, whole genome sequence analysis – can be crucial in establishing diagnoses, and guiding treatment, for those who are thought to have a rare disease.In the UK, these facts have been emphasised in official documents and Government statements going back more than a decade. The Rare Diseases Strategy of 2013 committed 'all four countries of the UK' to 'making high quality diagnostic tests accessible'. The Rare Diseases Framework of 2021 identified 'helping patients get a final diagnosis faster' as the first of the UK's 'priorities for the next five years'. Those five years have almost elapsed, so where do we stand now?Several services and resources seek to make rare disease genomic testing more accessible and useful. These include NHS England's Genomic Medicine Service and National Genomic Test Directory, the Scottish Genomic Test Directories, and guidance such as the Association for Clinical Genomic Science's Best Practice Guidelines for Variant Classification in Rare Disease and the British Society for Genetic Medicine's guidance Managing Incidental Findings.However, challenges remain. Turnaround times for various parts of the genomic testing process – patient access to the relevant test, receipt of test results from an appropriate clinician and in an appropriate fashion, and follow-up and referral (where these are necessary) – are not always consistent, and can be overly long. This can then extend the 'diagnostic odyssey' that is too often experienced by rare disease patients and their families.A Working Group spanning various professions and organisations has published a Position Statement detailing these and other challenges, and making recommendations to address them. In this podcast, experts and advocates including authors of the Position Statement explore rare disease genomic testing, and discuss how to make it equitable and timely.PET is grateful to the NIHR Exeter Biomedical Research Centre for supporting this discussion.PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
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    1 h et 35 min
  • Mitochondrial Donation: Does It Work? What Next?

    Mitochondrial Donation: Does It Work? What Next?
    Nov 3 2025
    This episode of the Progress Educational Trust (PET) podcast discusses the use of mitochondrial donation to avoid mitochondrial disease, with speakers including two of the pioneers whose work has resulted in the birth of eight UK babies with donated mitochondria.

    The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:

    ⚫ Professor Mary Herbert (pioneer of mitochondrial donation, and lead author of the first study reporting embryological and reproductive aspects of the use of mitochondrial donation in treatment in the UK)

    ⚫ Professor Sir Doug Turnbull (pioneer of mitochondrial donation, and lead author of the first study reporting maternal and child health outcomes following the use of mitochondrial donation treatment in the UK)

    ⚫ Liz Curtis (established the Lily Foundation after losing her daughter to mitochondrial disease)

    ⚫ Professor Catherine Mills (Patient and Community Engagement Lead at the mitoHOPE pilot programme for mitochondrial donation in Australia)

    At least eight children with donated mitochondria have been born in the UK. All of the children are reported to have made normal developmental progress, and none of them show any sign of mitochondrial disease.

    The announcement of this news came 10 years after a successful campaign – by PET, the Lily Foundation and others – to change UK law, in order to permit the use of mitochondrial donation to avoid transmission of mitochondrial disease from mother to child.

    A similarly successful campaign in Australia has led to the introduction of Maeve's Law, named in honour of a young Australian girl who has mitochondrial disease. As in the UK, the Australian legislation permits the carefully regulated use of mitochondrial donation in treatment.

    In this podcast pioneers, experts and advocates at the forefront of mitochondrial donation explain what has been achieved to date, and discuss what should happen next.

    PET is grateful to the Adelphi Genetics Forum, the British Fertility Society, CooperSurgical and the Senior Infertility Nurse Group for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
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    1 h et 25 min
  • Robert Edwards at 100: Remembering an IVF Visionary

    Robert Edwards at 100: Remembering an IVF Visionary
    Oct 6 2025
    This episode of the Progress Educational Trust (PET) podcast marks the 100th birthday of the late IVF pioneer Professor Sir Robert Edwards, known widely (and affectionately) as 'Bob'.

    The podcast explores Bob's life and legacy, including the dramatisation of his work with Patrick Steptoe and Jean Purdy in the film Joy.

    The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:

    ⚫ Dr Jenny Joy (Bob's daughter)

    ⚫ Professor Barry Bavister (the first person ever to witness IVF in humans, while working alongside Bob in 1968)

    ⚫ Alastair MacDonald (the second person ever born who was conceived via IVF)

    ⚫ Grace MacDonald (Alastair's mother, who gave birth to him in 1979)

    ⚫ Professor Geraldine Hartshorne (completed her PhD under Bob's supervision in 1988, and is now Scientific Director of the Coventry Centre for Reproductive Medicine)

    ⚫ Jane Blower (President of the Association of Reproductive and Clinical Scientists)

    ⚫ Professor Alfonso Martínez Arias (Research Professor at the Catalan Institution for Research and Advanced Studies and at Pompeu Fabra University)

    ⚫ Professor Nick Hopwood (Professor of History of Science and Medicine at the University of Cambridge)

    PET is grateful to the Association of Reproductive and Clinical Scientists for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
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    1 h et 45 min
  • 40 Years of the Surrogacy Arrangements Act: What Next for Surrogacy?

    40 Years of the Surrogacy Arrangements Act: What Next for Surrogacy?
    Sep 4 2025
    This episode of the Progress Educational Trust (PET) podcast marks 40 years since the UK introduced dedicated legislation to govern surrogacy, and explores whether and how this law might be updated.

    The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:

    ⚫ Kim Cotton (founder of Childlessness Overcome Through Surrogacy)

    ⚫ Sarah Jones (Chief Executive of Surrogacy UK)

    ⚫ Paul Morgan-Bentley (Head of Investigations at The Times)

    ⚫ Professor Kirsty Horsey (Professor of Law at Loughborough University)

    ⚫ Natalie Sutherland (Partner at the International Family Law Group)

    ⚫ Dr Katherine Wade (Principal Investigator at the Children's Voices in Surrogacy Law project)

    PET is grateful to the British Fertility Society and CooperSurgical for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
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    1 h et 33 min
  • Genomes, Feedback and Follow-On: The Long-Term Impact of Our Future Health

    Genomes, Feedback and Follow-On: The Long-Term Impact of Our Future Health
    Aug 4 2025
    This episode of the Progress Educational Trust (PET) podcast features leading figures in health-related policy, research and ethics discussing the long-term impact of the UK's Our Future Health programme, and what can be learned from the experience of the USA's All of Us programme.

    Topics explored include whether, when, why and how participants in these programmes might be re-contacted, following their initial participation.

    The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:

    ⚫ Professor Sir John Bell (Chair of Trustees at Our Future Health)

    ⚫ Dr Cosima Gretton (Executive Director of Digital Health, and Deputy Chief Medical Officer, at Our Future Health)

    ⚫ Nicola Perrin (Chief Executive of the Association of Medical Research Charities)

    ⚫ Professor Michael Parker (Director of the Ethox Centre and of the Global Health Bioethics Network)

    ⚫ Dr Geoffrey Ginsburg (Chief Medical and Scientific Officer at the All of Us programme, at the USA's National Institutes of Health)

    PET is grateful to Our Future Health for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
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    1 h et 33 min
  • Diversity in Health Data: Achieving Benefit for All

    Diversity in Health Data: Achieving Benefit for All
    Jul 14 2025
    This episode of the Progress Educational Trust (PET) podcast explores what needs to be done – and why – to ensure that people of diverse ancestries and social backgrounds are represented in genomic data, and in health-related data more generally.

    The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:

    ⚫ Anika Ladva (Head of Community Engagement at Our Future Health)

    ⚫ Sasha Henriques (Researcher at Wellcome Connecting Science and at the Wellcome Sanger Institute)

    ⚫ Professor Segun Fatumo (Professor and Chair of Genomic Diversity at Queen Mary University of London)

    ⚫ Dr Divya Shanmugam (Researcher at Cornell Tech)

    PET is grateful to Our Future Health for supporting this discussion.

    PET is also grateful to Jon Nicoll, who created the opening and closing music for its podcast.

    Register at https://www.progress.org.uk/events/upcoming-events/ for upcoming PET events.
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    1 h et 36 min