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The Road to Genome

NHS Genomic Medicine Service

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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 exper ...
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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 Lectur…
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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 geno…
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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 wor…
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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 o…
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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 he…
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This podcast is sponsored by How I crush it. A podcast where we shine a light on talent within the community. In each interview each guest will share their journey on how they have been able to crush it whether it be in the world of the arts, sports, or the business world and beyond. Listen in to be entertained and find out how they each overcame b…
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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 pat…
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This is Season 5, Episode 3. I'm joined today by a special guest, Mark Davis from the All About Balls podcast, as we dive deep into the NFL Draft, break down the upcoming season, and question how Shedeur Sanders fell so far. We also tackle the surprising George Pickens trade and plenty more storylines you won't want to miss. Buckle up! This one’s l…
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It’s Mock Draft Season, and we’ve got a full breakdown of the 2025 NFL Draft from picks 1 through 32. Joining me for this special episode is none other than Michael Mentzer — draft expert, football junkie, and the guy with hot takes. From franchise quarterbacks to sleeper picks, surprise trades to game-changing prospects — we're covering it all. So…
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Welcome back… to The Sports Town Podcast or STP for short. I’m your host, JJ Peters. After four incredible seasons, we’re officially tipping off Season 5! It's been a while, but we're back. This year, we’re going bigger and bolder — breaking down the biggest headlines, serving up hot takes and exciting interviews. And to help us launch season 5, we…
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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 Reb…
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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…
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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 familie…
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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.By NHS Genomic Medicine Service
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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 …
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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.…
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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 …
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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 comin…
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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 …
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This week we come to you from the heart of Guys Hospital, London, supported by the South East Genomic Medicine Service Alliance. In the first part of this 2-part episode, Helen talks to Adam Clatworthy about his family's diagnostic odyssey that eventually saw 2 of his children diagnosed with the rare disease, CRELD1. Sharing the reality of their jo…
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On this episode, our host Helen Bethell talks all things Pharmacogenomics with Emma Groves, pharmacy lead for the North East & Yorkshire Genomic Medicine Service. Her interest in genomics was sparked by an online teaching session on monogenic diabetes, and ever since then Emma has been fascinated by the potential of genomics. Emma tells us about th…
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On the first episode of season 3, our host Helen Bethell talks to Dr Lydia Green, a leading expert in the field of Leukodystrophies, or Inherited White Matter Disorders (IWMD) which affect the transmission of nervous impulses throughout the body, negatively impacting patients’ development, communication, cognitive and motor skills. Lydia tells us a…
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On the final episode of Season 2 of The Road to Genome, Helen speaks to Karen Westaway, Lynch Syndrome Project Manager for the West Yorkshire & Harrogate Cancer Alliance. Karen tells us about her journey into Nursing, her amazing work as one of the Lynch Syndrome Nurse Educators with the NEY GMS, and where she is now.…
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On this episode of The Road to Genome, Helen chats to Gill Moss, Nurse Director for the North East & Yorkshire Genomic Medicine Service. Some of Gill's earliest memories are of her desire for nursing, and as she says herself, Gill has "quite literally followed her dream". Gill works to embed genomics into nursing & midwifery pathways, and raise awa…
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On this episode of The Road to Genome, Helen uncovers the twists and turns of Paul Roberts' journey into genomics. From a planned career of teaching, to becoming the Lead Solid Cancer Scientist for the NEY GMS, Paul's route into genomics is, like many, full of twists and turns!By North East & Yorkshire Genomic Medicine Service
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On this episode of The Road to Genome, Helen is joined by Polly Talley, the Haemato-Oncology (HaemOnc) Lead Scientist for the NEY Genomic Laboratory Hub, and Senior Scientific Advisor for HaemOnc with the NHS England Genomics Unit. Polly tells us about her journey into the world of genomics and how her career has developed, and continues to develop…
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On this episode of The Road to Genome, Helen chats to our Genomic Lead Nurse, Kay Cawthron, about her journey into genomics and her current work with the North East & Yorkshire Genomic Medicine Service. From a young age, Kay was inspired by nursing, and providing care to those who need it most. Join us to hear how Kay rose to her current position a…
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Celebrating 'International Day of the Midwife' on Sunday 5th May, our first episode of The Road to Genome season 2 features an interview with Lead Midwife for the North East & Yorkshire Genomic Medicine Service, Denise Barnes. Denise talks to us about the role of the midwife, and how genomics influences the care and treatment options of pregnant pe…
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In the last episode of our first series, your host Helen Bethell is in conversation with…… herself! For one episode only, Helen turns the tables and hands the mic to Jack Darling, to interview the interviewer! As a Genetic Counsellor, Helen is quizzed from the patient perspective, shares the twists and turns of her own fascinating career in educati…
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This week, Helen completes her interview with Professor Sir John Burn, focusing on his ground-breaking research and discoveries in the specialist field of Lynch Syndrome - one of the more common causes of inherited cancer, including bowel cancer and endometrial cancer. He also talks about the trials he has led over many years demonstrating the impo…
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This week, your host Helen Bethell is in conversation with Professor Sir John Burn, who perhaps needs little introduction. Sir John is a colossus in the field of genomic medicine and research, and he reflects on his incredible medical and academic career to date. Tracking his fascinating journey from growing up in a pit village in County Durham thr…
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This week, Helen is in conversation with Consultant Clinical Geneticist, Dr Jackie Cook, who, during her 30 years or so in genomics, has seen it all, from small beginnings when genetic testing was very limited, through to the mapping of the first human genome and all the innovative advances in genomic medicine that followed, and the impact these ha…
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This week host Helen Bethell is in conversation with patient, Jack Darling who works in the communications team with the NEY GMS. But he's also a patient with a rare genetic heart condition. In this episode, Jack openly shares his own emotional journey - from undergoing genetic testing as a teenager, through to receiving his diagnosis and treatment…
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In the first interview with the guys over at Pigskins & Pageantry (00:07:16). Wes, Jesse and Matt are huge college football fans especially the SEC. We talk about the upcoming college football season, the preseason rankings, conference realignment in college football and why each team in the Pac12 is leaving. We also talk about and the death of the…
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We are happy to have guest Matt Cook of the Pull Hook Golf podcast. We talk the PGA Tour and Liv Series. In this interview we also talk merger between the PGA Tour and Liv Series. We also talk about Rory Mcllroy struggles, and also the emergence of Victor Hovland, and what golfer are not talking about that will have great season in 2024. He also gi…
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In this interview, we talk with the guys over at Pigskins & Pageantry. Wes, Jesse and Matt are huge college football fans especially the SEC. We talk about the upcoming college football season, the preseason rankings, conference realignment in college football and why each team in the Pac12 is leaving. We also talk about and the death of the Pac 12…
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Thanks again for listening to the Sports Town Podcast. On this episode we have a great interview with Dane Wags of Lombardi Legends. Whether you're listening on Apple podcast, Spotify, Google podcast, Pandora and others, thanks so much for listening. But before I tell you about the guest, don't forget to rate the podcast, it would help out tremendo…
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Thanks again for listening to the Sports Town Podcast. On this episode we have a great interview with Rami Lavi. Whether you're listening on Apple podcast, Spotify, Google podcast, Pandora and others, thanks so much for listening. But before I tell you about the guest, don't forget to rate the podcast, it would help out tremendously. Also don't for…
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Thanks again for listening to the Sports Town Podcast. On this episode we have a great interview with Seven Mitchell. Whether you're listening on Apple podcast, Spotify, Google podcast, Pandora and others, thanks so much for listening. But before I tell you about the guest, don't forget to rate the podcast, it would help out tremendously. Also don'…
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Hey guys, It’s your host JJ Peters, but you probably already knew that. On this week’s episode of the Sports Town podcast, we have Jim Banks from the Sports Money Music Podcast. But before we start talking about that interview, don’t forget to rate the podcast if you have not already. If you are listening on an audio platform such as Apple podcast,…
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