Behind the Genes

Genomics England

At Genomics England, our vision is a world where everyone benefits from genomic healthcare.

From the latest research to the lived experiences of those affected by rare conditions and cancer, Behind the Genes brings you closer to the people behind the science.

Each month, we release a deep-dive episode, alongside our Genomics 101 series - short explainers designed to make complex terms in genetics and genomics easier to understand.

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100 episodes
Updated Wednesday

Episodes100

Newest first

Jun 4, 2023 · 7 min
What is whole genome sequencing?
In this episode of our explainer podcasts, we’ve asked Greg Elgar, Director of Sequencing R&D here at Genomics England, to clarify in less than 10 minutes, what is whole genome sequencing. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: What-is-whole-genome-sequencing.docx 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.
May 31, 2023 · 45 min
How can we support complex patient journeys?
In this episode, Shelley Simmonds, member of the Participant Panel at Genomics England, speaks to Louise Fish, CEO of Genetic Alliance UK, and Amanda Pichini, clinical lead for genetic counselling for Genomics England, to discuss how the patient journey has changed over the last 10 years for those living with rare conditions. This year, we're celebrating our 10-year anniversary, and in this special episode our guests will delve into how we can continue to strengthen the relationships between Genomics England and charities such as Genetic Alliance, and we will explore the significance of these partnerships in transforming the landscape of support for individuals with genetic conditions. You can read the transcript here: Supporting-complex-patient-journeys.docx "Our challenges as charities is both to help shape the research and to help make sure that the research is addressing the things that matter most to people with living with rare genetic conditions and their families, but also to make sure that the benefits of that research actually reach patients and their families and really improve people's lives in the longer term."
May 17, 2023 · 35 min
The impact of a genetic diagnosis on mental health
In this episode, Vivienne Parry, the Head of Public Engagement at Genomics England, is joined by Helen Dolling, a researcher at the Centre for Family Research at the University of Cambridge, Kym Winter, the Clinical Director and founder of Rare Minds, and Melanie Watson, the Lead Genetic Counsellor for the Wessex Clinical Genetic Services, to discuss the impact that a genetic diagnosis can have on mental health for both the person directly affected and their wider family. For Mental Health Awareness Week 2023 (15 to 21 May) we want to signpost to resources and support available for those families affected by a genetic diagnosis. Our guests discuss the gaps in mental health support and how the process of receiving a genetic diagnosis could be improved to support the mental health of those affected. You can read the transcript here: Genetic-diagnosis-and-impact-on-mental-health.docx Resources and support mentioned in this podcast: Charities and patient organisations Rareminds work in partnership with patient organisations to provide psychotherapeutic counselling, groups, and training about the mental health impact of rare conditions. Unique provide support, information and networking to families affected by rare chromosome and gene disorders. Genetic Alliance UK have a comprehensive list of condition-specific patient organisations. SWAN UK supports families affected by a syndrome without a name. Gene People provide valuable resources for adults and children affected by genetic disorders. Affinity Hub signposts to emotional support (including counselling) for parents and carers of children with special needs. Other resources Rareminds and Medics4Rare Diseases have worked together on a module for Health Care Professionals on 'Rare Diseases and Mental Health'.
May 8, 2023 · 6 min
What is a genome?
We're going back to basics today, and in this explainer podcast, we’ve asked Greg Elgar, Director of Sequencing R&D here at Genomics England, to clarify in less than 10 minutes, exactly what is a genome. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: What-is-a-genome.docx 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.
May 3, 2023 · 44 min
Our Nurses, Our Future
In this weeks' episode, Naimah Callachand, Head of Product Marketing at Genomics England, is joined by Tiggy Johnstone-Burt, a Macmillan Genomics Clinical Fellow and a clinical nurse specialist, Vicky Cuthill, a nurse consultant, and Sally Shillaker, a health visitor and practice development lead in genomics, to discuss how both nurses and health visitors play a vital role in the patient care pathway for those who have received a genetic diagnosis. For this years' International Nurses Day on 12 May, we're celebrating a brighter future of nursing. With the rapid advances in genomic medicine, both nurses and health visitors are uniquely positioned to translate genomic information into clinical care and to educate patients and families about the role of genomics in their health. You can read to the transcript here: International-Nurses-Day.docx "I would love to see an NHS service where genomic testing was part of the standard routine care…This is a beautiful example of advanced practice and I think that we [nurses and health visitors] are perfectly placed to be taking this on, and I'd really like to see a better recognition of that in the future."
Apr 26, 2023 · 27 min
What are the challenges of data governance in the digital age?
In this episode, our Director of Ethics, Dr Natalie Banner, is joined by Dr Nicola Byrne, the National Data Guardian for health and adult social care in England. Listen to find out more about the challenges of data governance in healthcare, people’s relationship to their health and care data, the importance of transparency and accountability in how data is used to support better outcomes from health and care services. The National Data Guardian is responsible for ensuring that personal confidential data is used to improve health and care services while also maintaining thorough safeguards to protect this information. You can read the transcript here: National-Data-Guardian.docx "It's absolutely important that people feel that they can share that information and then feel confident... Whether that's for their own care or thinking about the benefit, rather, people in future through research and innovation and planning."
Apr 24, 2023 · 6 min
Genetics vs genomics, what’s the difference?
People often use the terms genetics and genomics interchangeably, but is this right? In the first of a series of explainer podcasts, we’ve asked Dr Rich Scott, Chief Medical Officer, and Deputy CEO here at Genomics England, to clarify in less than 10 minutes, exactly what these two terms mean and when we should use them. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genetics-vs-genomics-whats-the-difference.docx 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.
Mar 22, 2023 · 28 min
Public views on genetics - what have we learnt?
A survey of over 2000 British adults conducted by the Genetics Society found that trust in genetics is high and went up significantly during the pandemic. In this episode, our Head of Public Engagement, Vivienne Parry OBE, is joined by guests, Dr Adam Rutherford, geneticist, author, and broadcaster, Professor Laurence Hurst, Professor of evolutionary genetics and  Director of the Milner Centre for Evolution and Dr Cristina Fonseca, Head of Engagement and Communications at Genetics Society, to discuss findings from the survey and the supporting research paper published in Plos Biology exploring the links between someone’s understanding of science and their attitudes towards it. You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Public-views-on-genetics.docx "We're all responsible for communicating science.... and our jobs will never be done because this is a hard game it turns out."
Mar 9, 2023 · 1 hr 7 min
Prostate cancer awareness with The Errol McKellar Foundation and friends of Caswell Thompson
The Errol McKellar Foundation focuses on giving presentations and talks around the UK to raise the awareness of important men’s health issues, especially prostate cancer. Friends of Caswell Thompson (FOCT) is an organisation set up for, and dedicated to, raising awareness about prostate cancer in the BAME communities in Bristol and surrounding towns and villages through a range of activities, with a particular focus on reaching black men, in whom the incidence of prostate cancer is 1 in 4, compared with 1 in 8 in the general population. You can read our transcript here: The-Errol-McKellar-Foundation-and-friends-of-Caswell-Thompson.docx "The fear of knowing vs. the fear of doing nothing." Marie Nugent, Community Manager for Diverse Data at Genomics England, is joined by Errol McKellar, MBE, founder of the Errol McKellar Foundation, and the MOT yourself campaign, and Errol Thompson and Errol Campbell, Directors of Friends of Caswell Thompson, who are dedicated to supporting families affected by prostate cancer in and around Bristol. Today, we'll be hearing about the impact these two incredible companies are having in raising awareness of prostate cancer risk in the communities.
Feb 22, 2023 · 47 min
Why data isn’t neutral
On this episode, Lyra Nightingale, our ethics lead at Genomics England, is joined by Professor Anneke Lucassen and Dr Faranak Hardcastle in a deep discussion about ethics and data. They discuss the neutrality of data, cultural humility in research, the role of structural racism in science and the role of co-production in diversity. You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Professor-Anneke-Lucassen-and-Dr-Faranak-Hardcastle.docx "Data is not neutral, or objective, because they don't exist in a vacuum. And they are produced by processes that we put them through, we curate them, we select them, collect them, clean them, edit them, and classify them and then end up analysing them." References: Bowker, Geoffrey C., and Susan Leigh Star. Sorting things out: Classification and its consequences. MIT press, 2000. Gitelman, Lisa, ed. Raw data is an oxymoron. MIT press, 2013. Ruppert, Evelyn, and Stephan Scheel, eds. Data practices: Making up a European people. MIT Press, 2021.
Jan 18, 2023 · 40 min
The Participant Panel - What are you doing to keep my data safe?
What is the impact of the participant data from the 100,000 Genomes Project? Rebecca Middleton and Jillian Hastings Ward explore these questions and discuss how the science has evolved at Genomics England with our CEO, Chris Wigley, Head of Translational Genomics, Dr Suzi Walker (a.k.a. the gene detective!) and Clinical Director and Director of Quality, Dr Ellen Thomas. We are taking you back to the Reanalysis Webinar for Participants, where Jillian, Chair of the Participant Panel, and Rebecca, Vice Chair of the Participant Panel, asked Chris, Suzi and Ellen questions that the participants had about Genomics England's approach to reanalysis. Hear directly from participants of the 100,000 Genomes Project! You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Reanalyis-Webinar.docx ''What should I do? Should I have another test? If so, what test should I have? What should be my next steps?''
Dec 28, 2022 · 24 min
Chris Wigley: Goodbye 2022, hello 2023!
As we draw a close to 2022, Chris Wigley takes us through the best parts of the year in this short but sweet episode of The G Word. From our 10-year anniversary to GERS 2022 to our inspiring patient stories, Genomics England has achieved many milestones this year. We have enjoyed the privilege to speak to so many incredible people from across the world to talk about what we love most, genomics. Thank you to our wonderful listeners, see you in 2023! You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/End-of-year-transcript.docx
Dec 14, 2022 · 38 min
Making research relevant to the user
Nicola Perrin MBE, who is a new non-executive director on the Genomics England Board, has also recently been appointed to the Board of UK Biobank, as well as being the CEO of the Association of Medical Research Charities that AMRC, an organisation that brings together and supports over 150 health and medical charities to enable and support high-quality research. View our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Nicola-Perrin.docx "Don't underestimate the power of mothers on a mission!" In this episode, Chris Wigley and Nicola Perrin MBE discuss all things life science, data and the importance of engaging users in research.
Dec 7, 2022 · 29 min
The last 10 years and the next...
This week we are celebrating the 10-year anniversary of the announcement of the 100,000 Genomes Project. To mark this ground-breaking project, our Head of Public Engagement, Vivienne Parry OBE, is joined by two guests who have played a critical role over the last 10 years: Professor Sir Mark Caulfield, who led the strategic oversight and delivery of the project, and Jillian Hastings Ward, Chair of the Participant Panel at Genomics England. Jillian and her family joined the project in 2015, in search of answers for her young son who is severely disabled. Tune in to hear Jillian and Mark discuss their highlights over the last 10 years, how Genomics England has grown as an organisation and what they think the future of genomics holds. You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/10-years-of-100K-Project.docx “Thanks to the 100,000 Genomes Project, Sam was the first person diagnosed in the mainstream NHS in England with a GRIN1 genetic disorder. That's been wonderful for us to know, as a family, who else we can find around the world with the same condition. But also, I'm really delighted that GRIN1 genes were added to the gene panels that the teams were using to diagnose more people as a consequence directly of the 100,000 Genomes Project. That's meant that we've been able to find a lot more since then, who shared the same condition. Hopefully, in due course, we'll have enough people that we can get more researchers interested and make real progress together."
Nov 23, 2022 · 40 min
Conversations with the CEOs of genomics
Genome Canada is an independent, federally funded not-for-profit organisation and a national leader for Canada’s genomics ecosystem. Working in partnership, and across sectors, they invest in, and coordinate, genomics research, innovation, data and talent to generate solutions to today’s biggest challenges. CEO Rob Annan joins us in an inspiring and fascinating discussion. You can view our Transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Rob-Annan.docx "We do work in health, but we work beyond health." Today, Genomics England's CEO Chris Wigley meets Rob Annan, CEO of Genome Canada. They discuss challenges in sharing genomic data in Canada, working with indigenous communities in the north of Canada, and Rob's 'manifesto' for the future.
Nov 16, 2022 · 20 min
What does it take to scale an idea like whole genome sequencing diagnostics across an entire health service?
Another brilliant session from the last genomics England Research Summit, where Chris Wigley spoke with Professor Dame Sue Hill and Vivienne Parry, about the state of genomics research and the pathway to clinical implementation. What does it take to scale an idea like whole genome sequencing diagnostics across an entire health service? You can find our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genomics-England-Research-Summit-2.docx "the NHS is both the producer and the consumer of innovation" On todays episode of The G Word, Chris Wigley is joined by Vivienne Parry, our Head of Public Engagement and Professor Dame Sue Hill at our 2022 Genomics England Research Summit. They discuss what genomic testing means for both clinicians and patients, how we measure equity of access and patient stories from the 100,000 Genome Project.
Nov 10, 2022 · 47 min
What role do genetic counsellors play in healthcare?
Genetic counsellors are a highly specialised group of healthcare professionals, who have the expertise to help patients and families understand complex information relating to genomics, as well as provide guidance and emotional support. Whether that's to understand their family history, make informed choices about genetic testing, or come to terms with a result or a new diagnosis. As genomics becomes more commonly used in health care, more and more people are likely to require genetic counselling and more healthcare professionals need to rely on their expertise. You can find our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genetic-Counsellors.docx "What we're really here for, is to be able to explain something that's really quite complicated science, and how that fits into your life, your family, your values and your decision-making." Today, Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Dave McCormack, member of the participant panel to Genomics England, Sara Levine, consultant, a genetic counsellor at the Centre for reproductive and genetic health and chair of the Association of genetic nurses and counsellors. Janice Bailey, a cardiology clinical nurse specialist and preregistration genetic counsellor, and Heather Pierce, a genetic counsellor with a neural net Project at the University of Cambridge.
Nov 2, 2022 · 14 min
The importance of patients being at the heart of the research.
The Genomics England Research Summit is an exciting one-day event that explores the latest research and technology innovations from Genomics England, partners, and complementary fields. The summit covers all things genetics from Cancer Genomics, Emerging Technologies, Rare Diseases to Policies and Initiatives. You can view our transcript, here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genomics-England-Research-Summit.docx "...one of the most important things is to understand you have to build a sustainable system and really invest in building those relationships." Today, we're very excited to share one of the brilliant sessions from the last Genomics England Research Summit, where Jillian Hastings Ward, who is the chair of our Participant Panel, spoke with Baroness Nicola Blackwood, who's the Chair of the Board at Genomics England, about the importance of patients being at the heart of the research.
Oct 26, 2022 · 53 min
The song of the cell
A doctor, a scientist, an entrepreneur, and a Pulitzer Prize-winning author is Siddhartha Mukherjee. His new book is called 'The Song of the Cell, An Exploration of Medicine and the New Human'. Siddhartha Mukherjee is a cancer physician and researcher. He is an assistant professor of medicine at Columbia University and a staff cancer physician at Columbia University Medical Center. A Rhodes scholar, he graduated from Stanford University, University of Oxford, Harvard Medical School. He has published articles in Nature, The New England Journal of Medicine, The New York Times, and The New Republic. You can view our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Siddhartha-Mukherjee.docx "A gene, as you know, is extraordinarily important. It's a carrier of information. But it's lifeless. Without a cell, a gene is a molecule, a cell brings it to life." Today on The G Word, Parker Moss, our Chief Partnership Officer is joined by Siddhartha Mukherjee. They Discuss Siddhartha's new book release covering some of the main insights into his lab research and personal life. They also discuss other scientific areas of research .
Oct 19, 2022 · 41 min
Health equity engagement of special populations
Before joining All of Us, Martin Mendoza served as director of the Division of Policy and Data at the Office of Minority Health in the Office of the Secretary at the U.S. Department of Health and Human Services, charged with developing health policies and initiatives to eliminate health disparities and advance health equity. View our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Martin-Mendoza.docx "Information can then help to improve the ways to diagnose, prevent, and treat health conditions and lead to improved health for hopefully generations to come." Today on The G Word, Maxine Mackintosh, programme lead for Diverse Data at Genomics England, is joined by Martin Mendoza, Director of Health Equity at All of Us. They discuss the need for health equity engagement of special populations and the impact of the pandemic.