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The Road to Genome

NHS Genomic Medicine Service

Health & Wellness Life Sciences

Latest episode

29 episodes

S5 E6 - Rare, Not Alone: Genomics England’s Work on Rare Disease with Dr. Richard Scott
04/08/2025 | 29 mins.
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
21/07/2025 | 31 mins.
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
07/07/2025 | 44 mins.
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
23/06/2025 | 50 mins.
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
09/06/2025 | 32 mins.
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.

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About The Road to Genome

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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