The Road to Genome

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.

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.

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.

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.

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.

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.

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.

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.

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.

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 into the search for a diagnosis.

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, exciting projects that are coming down the pipeline, and how her journey brought her to where she is today.

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 field, how incredibly powerful the service can be for patients and families, and where she wants to take the service next!

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.

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 patients across a wide range of areas. Join us to learn more about the road she's travelled so far, and where it might take her next.

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!

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 genomic laboratories, and exciting new developments in the recently launched Genomic Networks of Excellence.

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 highlights she experienced along the way.

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 midwifery care.

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 counsellors play such a pivotal role in the patient journey!

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 risk of cancer.

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 his field.

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.

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 him, his family and the decisions he'll make for the future.

A quick look at what to expect from Season 1 of The Road to Genome, launching 11th March at 6am. Subscribe to hear it first!