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The Road to Genome podcast provides an exciting opportunity to journey into the fast-moving and innovative field of genomic medicine. In each episode we talk to professionals and experts involved in genomics today. We chat about their role, uncover the different – sometimes unusual – paths they’ve taken during their careers, and discuss how this rapidly developing field is changing the face of healthcare practice. And, most importantly, we gain insights into the emotional rollercoaster experienced by patients undergoing genetic testing, diagnosis and treatment. So, if all of this sounds interesting, and you’re curious to learn more, why not download your first episode today! Find us at: www.ney-genomics.org.uk, or @NEYGenomics on X, LinkedIn and YouTube.

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Check latest episodes from The Road to Genome podcast

S5 E6 - Rare, Not Alone: Genomics England’s Work on Rare Disease with Dr. Richard Scott

2025/08/04

In our final episode of The Road to Genome season 5, we speak to the CEO of Genomics England Dr Richard Scott about the work of Genomics England, the creation of the Generation Study, and having the tough discussions to drive the future of genomics. Dr Richard Scott joined Genomics England in 2015. He is also a Consultant and Honorary Senior Lecturer in Clinical Genetics at Great Ormond Street Hospital for Children and the UCL Institute of Child Health where his practice focuses on diagnosing children with rare multisystem disorders.

S5 E5 - The Newborn Genomes Programme with David Bick

2025/07/21

In the penultimate episode of Season 5, we talk to David Bick - Principal Clinician for the Newborn Genomes Programme at Genomics England, who tells us more about the programme's Generation Study, and how the echoes from the past are helping to usher in the future. The Generation Study is a groundbreaking research study which will sequence the genomes of 100,000 newborn babies looking for treatable conditions, with the aim of them being seen by a specialist and receiving treatment before they become unwell.

S5 E4 - The role of the Chief Nursing Officer - paving the way for genomics in Nursing & Midwifery

2025/07/07

In this episode of The Road to Genome, we speak to Dame Janice Sigsworth, Chief Nursing Officer, about her path into the world of genomics, and the work being done to share and awaken the knowledge of genomics in the workforce. Genomics touches us all in many ways, and brings it's own challenges and successes to those both in and out of the NHS workforce.

S5 E3 - Becoming a Clinical Scientist, with Nikki Smith, STP trainee

2025/06/23

In this episode, Helen talks to Nikki Smith, trainee on the STP (Clinical Scientist Training) programme at Guy's & St Thomas' NHS Foundation Trust. Nikki has taken many twists and turns to get to her current role on the STP programme, and shares with us about her experiences on the programme, the many inspiring people she has worked with, and her overriding drive to learn more and make a difference to patient's lives through science.

S5 E2 - DHDDS: Turning a Diagnosis into a Global Support Network

2025/06/09

In this episode, Helen is in Guy's Hospital London, supported by the South East Genomic Medicine Service, talking to Mel Dixon about her experience with the rare genetic condition DHDDS. After two of Mel's children were diagnosed with DHDDS, Mel and her husband Charlie founded Cure DHDDS, a charity set up to raise awareness, support families and help drive research into the ultra-rare DHDDS gene mutations. Mel tells us about their experience as parents dealing with the journey through the diagnostic pathway, and setting up a global support network for other families affected by this condition.

S5 E1 - Genomics from both sides, a patient and professional perspective with Eddie Blair

2025/05/26

In this first episode of our new season, Helen Bethell is at the School of Clinical Medicine, Addenbrooke's Hospital in Cambridge, talking to Eddie Blair, Vice-Chair of the Patient & Public Voice Forum for the East Genomic Medicine Service. Eddie shares his career journey through microbiology and virology, along with his experience as a genomic patient. Having received a diagnosis of prostate cancer, Eddie shares his perspective on the genomic world from both a professional and personal angle.

S4 E6 - Hereditary Brain Aneurysm - From Patient Journey to Pioneering Support, with Rebecca Middleton

2025/03/24

In this episode of The Road to Genome, we interview Rebecca Middleton at Leicester Royal Infirmary. Rebecca talks to us about her experience as a patient with a hereditary brain aneurysm, through the diagnosis and treatment, and the rollercoaster of emotions this brings. She also tells us about Hereditary Brain Aneurysm Support, an organisation Rebecca set up to support and inform people living with familial brain aneurysms and raise awareness of the condition as a rare disease, representing the lived experience and improving and saving lives.

S4 E5 - Embedding Genomics into Nursing & Midwifery in the South East with Dr Tootie Bueser

2025/03/10

In this episode of The Road to Genome, Dr Tootie Bueser Director of Nursing & Midwifery in the South East GMS, talks to us about her work embedding Genomics into Nursing & Midwifery practice across the south east, from Brighton to the South of London. In Tootie's other role as NIHR Senior Clinical Practitioner Researcher, we also learn about Tootie's work growing research into inherited cardiac conditions at King's College.

S4 E4 - Specialist Midwives Beth Evans & Nicola Young - Monogenic Diabetes and the Pregnancy Pathway

2025/02/24

In this episode of The Road to Genome, Helen has two guests on the other side of the mic! Beth Evans and Nicola Young explain what Monogenic Diabetes is, and why it is so crucial (and tricky) to catch in pregnant people. Beth and Nicola show us the power of the right diagnosis at the right time, not only for patients, but their children and families too, right now and in the future.

S4 E3 - The Future of Genomics, Genomics England Chief Medical Officer Ellen Thomas

2025/02/10

In this episode, Helen talks to Genomics England's Chief Medical Officer Ellen Thomas, discussing her career path to date, and her role in helping to shape the direction of travel for Genomics. We also hear more about the Generation Study, and where we're heading.

S4 E2 - Inspiring Care & Driving Change - NHS England's Lead Midwife, Donna Kirwan

2025/01/27

Episode 2 of Series 4 features a powerful talk with Donna Kirwan who's the Lead Midwife for Genomics, on NHS England's Nursing & Midwifery Genomics Team. Donna's career has taken her to many places, on both sides of the Atlantic, through many roles. Through them all she has inspired and driven change, always with the welfare of pregnant people and children at the forefront. Donna talks to us about her experiences, the power of testing, and where we're looking to go now.

S4 E1 - Fragile X, Rapping, and making genomics accessible with Professor Julian Barwell

2025/01/13

We're back for Series 4 of The Road to Genome! Kicking things off with a cracking talk to The Rapping Consultant, Clinical Geneticist Professor Julian Barwell. Julian talks to us about his career and work in Cancer Genomics, Fragile X, and the work he has done to make genomics accessible and engaging for all.

S3 E6 - Haemochromatosis & the Power of the Patient Voice

2024/11/18

We round off Season 3 of The Road to Genome with a powerful interview with Chris Hind, Chair of the Patient & Public Voice Forum in the East Genomic Medicine Service Alliance. Chris talks to Helen about his personal experience on the diagnostic journey, dealing with Haemochromatosis, Prostate Cancer testing, and the effects this can have on family and life in general. Chris also highlights the incredible work that the Patient & Public Voice forums can do to change the patient pathways, and help to improve the journey for all.

S3 E5 - Amanda Pichini's journey to Clinical Director for Genomics England

2024/11/04

In this episode, we come to you from Genomics England HQ in Canary Wharf, as Helen talks to Amanda Pichini, Clinical Director for Genomics England, and Genomic Counsellor. Amanda chats about her career journey so far, her work with Genomics England and the importance of Genetic Counselling. We also hear about exciting future projects that are coming our way, such as the Generation Study.

S3 E4 - Building Support, Finding Stability, and Hitting the Inchstones. CRELD1 - pt2

2024/10/21

This week we're back once again with Adam Clatworthy, from the heart of Guys Hospital, London, supported by the South East Genomic Medicine Service Alliance. In part 2 of Adam's journey, Helen talks to Adam C about his family's diagnostic odyssey that eventually saw 2 of his children diagnosed with the rare disease, CRELD1. We learn more about the support network Adam has helped to create, how its possible to find a sense of stability, and where to go from here.