Join us on 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!

 

Search for The Road to Genome on your favourite podcast app, or listen below.

 

Meet your host

The podcast is hosted by Helen Bethell, NEY GMS Workforce Development & Education Lead, experienced Genetic Counsellor and passionate advocate of staff development and learning.

Want to know more about Helen? Check out our ‘turn the tables’ podcast interview with her ‘Genes, Guidance and the Role of the Genetic Counsellor’, S1 E5.

Episode 1 – A Patient’s Journey Through Genetic Testing
Following Helen’s interview with Jack, if you are interested in finding out more about cardiomyopathy, please follow the links below:
Episode 2 – How Genomics Supports The Patient Journey
Here are some links for further reading on some of the areas touched on in our interview with Dr Jackie Cook about her work as a Consultant Clinical Geneticist and the impact of genomics on treatment for patients.

Episodes 3 & 4 – Genomic Pioneers: In Conversation with Professor Sir John Burn
If you were interested in Sir John’s work on Lynch Syndrome, please see the links below to find out more about this condition.

Episode 5 – Genes, Guidance, and the Role of the Genetic Counsellor
If you want to learn more about the role of the Genetic Counsellor, please see the links below:

 

Episode 1 – The DNA of Midwifery: Genomics and Midwifery Practice
To find out more about the role of genomics in midwifery, please see the following links:

Episode 2 – A Nurse’s Journey into Precision Medicine
If you want to learn more about the topics mentioned in Kay’s episode, please see the links below:

Episode 3 – The Genomics of Haemato-Oncology with Polly Talley
To learn more about genomics in Haemato-Oncology and the work Polly and her colleagues are doing in the HaemOnc Genomic Network of Excellence, explore the links and resources below:

Episode 4 – The Accidental Geneticist, The Journey of Paul Roberts, Lead Solid Cancer Scientist
To find out more about the Genomic Laboratory Hub, Solid Tumour Testing (Cancer) and the National Test Directory, follow the links below:

Episode 5 – Following the Genomics Dream with Nurse Director Gill Moss
For more information about the PALOH Study and Generation Study discussed in Gill’s podcast, see the links below:

Episode 6 – Bringing Genomics into Mainstream Nursing
To access information and training resources on Lynch Syndrome, use the links below. To join the NEY Lynch Community of Practice, contact Karen for more information [email protected]

Episode 1 – The Power of an Answer – Leukodystrophy with Dr Lydia Green
To learn more about Inherited White Matter Disorders, and the work of the charity AlexTLC, follow the links below:

Episode 2 – Pharmacogenomics with Emma Groves
To learn more about the topics mentioned in Emma’s episode, please see the links below:

Introduction to pharmacogenomics:

The NHS PROGRESS Study

Examples of pharmacogenomics:

DPYD and Fluoropyrimidines

  • https://pharmaceutical-journal.com/article/ This pharmaceutical Journal article discusses how DPYD pharmacogenetic testing is applied in clinical practice to optimise fluoropyrimidine based therapies.
  • https://www.uksactboard.org/publications – Clinical guidance published ‘personalised medicine approach for fluoropyrimidine-based therapies’ to provide clinical staff with guidance as to which patients should receive a DPD test and then subsequently to provide advice to clinical staff on the outcome of that test.

MTRNR1 and aminoglycoside antibiotics

CYP2C19 and Clopidogrel in Stroke

On 31 July 2024, NICE published their diagnostics guidance for CYP2C19 genotype testing to guide clopidogrel use after ischaemic stroke or transient ischaemic attack. Currently, there is no NHS laboratory-based genotype testing for CYP2C19 in England. NICE is therefore working with NHS England to deliver a national pilot to inform future implementation of CYP2C19 testing in stroke. Overview | CYP2C19 genotype testing to guide clopidogrel use after ischaemic stroke or transient ischaemic attack .

Episode 3&4 – One Family’s Rare Disease Odyssey – CRELD1, Pt1
Find out more detail about CRELD1 and Adam’s charity work here 

Episode 5 – Amanda Pichini’s Journey to Clinical Director for Genomics England
To find out more about Genomics England and the Generation study, follow the links below: