The Road to Genome
The Road to Genome podcast explores the fast-moving field of genomic medicine, featuring conversations with professionals and experts currently working in genomics. Each episode discusses their roles, the varied and often unexpected career paths they have taken, and how the field is transforming healthcare practice. The show also highlights the emotional experiences of patients undergoing genetic testing, diagnosis, and treatment. It offers insights into the human side of genomics alongside the scientific and clinical developments.
Episodes
S5 E6 - Rare, Not Alone: Genomics England’s Work on Rare Disease with Dr. Richard Scott
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 Hosp
S5 E5 - The Newborn Genomes Programme with David Bick
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
S5 E4 - The role of the Chief Nursing Officer - paving the way for genomics in Nursing & Midwifery
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
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 differ
S5 E2 - DHDDS: Turning a Diagnosis into a Global Support Network
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 mu
S5 E1 - Genomics from both sides, a patient and professional perspective with Eddie Blair
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
S4 E6 - Hereditary Brain Aneurysm - From Patient Journey to Pioneering Support, with Rebecca Middleton
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 wi
S4 E5 - Embedding Genomics into Nursing & Midwifery in the South East with Dr Tootie Bueser
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 ca
S4 E4 - Specialist Midwives Beth Evans & Nicola Young - Monogenic Diabetes and the Pregnancy Pathway
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
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
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 ab
S4 E1 - Fragile X, Rapping, and making genomics accessible with Professor Julian Barwell
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
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
S3 E5 - Amanda Pichini's journey to Clinical Director for Genomics England
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
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
S3 E3 - One Family's Rare Disease Odyssey - CRELD1, Pt1
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 journey and daily experiences, we get an insight int
S3 E2 - Pharmacogenomics with Emma Groves
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 the development of the field of pharmacogenomics,
S3 E1 - The Power of an Answer: Leukodystrophy with Dr. Lydia Green
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 about her journey to becoming an expert in this fiel
S2 E6 - Bringing Genomics into Mainstream Nursing
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.
S2 E5 - Following the Genomics Dream, with Nurse Director Gill Moss.
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 awareness about the benefits it brings to pati
S2 E4 - The Accidental Geneticist - The Journey of Paul Roberts, Lead Solid Cancer Scientist
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!
S2 E3 - The Genomics of Haemato-Oncology with Polly Talley
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. We also hear insights into the workings of the ge
S2 E2 - A Nurse's Journey into Precision Medicine
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 as Genomic Lead Nurse, and the challenges and hi
S2 E1 - The DNA of Midwifery: Genomics and Midwifery Practice
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 people, along with the challenges and joys of mid
S1 E5 - Genes, Guidance, and the Role of the Genetic Counsellor
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 education and genomics and tells us why genetic counsello
S1 E4 - Decoding Lynch syndrome, with Professor Sir John Burn
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 importance of aspirin in treating and reducing the ris
S1 E3 - Genomic Pioneers: In Conversation with Professor Sir John Burn
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 through to being an entrepreneurial trailblazer in hi
S1 E2 - How Genomics Supports the Patient Journey
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 have on the patient journey.
S1 E1 - A Patient's Journey Through Genetic Testing
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 options, and the impact all of this has had on hi
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