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.
Useful Links - Season 1
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.
- Macmillan Cancer Support guide to Lynch syndrome
- Macmillan Cancer Support Educational Resources for Health Professionals
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:
- The Association of Genetic Nurses and Counsellors – AGNC
- Meet the Genetic Counsellors – Genomics Education Programme (hee.nhs.uk)
- Eight things a genetic counsellor may already be doing in your clinic – Genomics Education Programme (hee.nhs.uk)
- Home – Genetic Counsellor Registration Board (gcrb.org.uk)
Useful Links - Season 2
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:
- https://www.cysticfibrosis.org.uk/sites/default/files/2024-01/MTRNR1%20Testing.pdf
- https://www.genomicseducation.hee.nhs.uk/genotes/in-the-clinic/presentation-patient-requiring-aminoglycoside-antibiotics/
- https://www.nmc.org.uk/standards/standards-for-post-registration/standards-for-prescribers/
- https://www.sps.nhs.uk/articles/implementing-pharmacogenomic-testing-for-aminoglycosides/
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:
- https://bloodcancer.org.uk/
- Genomics in Leukaemia Diagnostics https://doi.org/10.1007/s40142-019-00179-2
- HaemOnc (ALL) WGS https://doi.org/10.1038/s41375-022-01806-8
- HaemOnc Network of Excellence overview
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:
- NHS England » National genomic test directory
- Major agreement to deliver new cancer vaccine trials – GOV.UK (www.gov.uk)
- Requesting whole genome sequencing: information for clinicians – Genomics Education Programme (hee.nhs.uk)
- A Clinician’s Guide to Bioinformatics for Next-Generation Sequencing – PubMed (nih.gov)
- Cancers | Free Full-Text | Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel (mdpi.com)
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:
- GEP 101 masterclass for a basis introduction to genomics
- https://www.genomicsengland.co.uk/initiatives/newborns
- https://www.bimdg.org.uk/site/index.asp
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]
Useful Links - Season 3
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:
- https://www.leedsth.nhs.uk/services/leeds-centre-for-neurosciences/inherited-white-matter-disorders-iwmd/#team
- https://alextlc.org
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:
- What is Pharmacogenomics?
- Personalised Prescribing | British Pharmacological Society (bps.ac.uk)
- Pharmacogenomics (hee.nhs.uk)
The NHS PROGRESS Study
- Spotlight: PROGRESS project :: North West Genomics Medicine Service Alliance (nw-gmsa.nhs.uk)
- The NHS PROGRESS Study: Implementing Pharmacogenetics in Primary Care – YouTube
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
- https://www.sps.nhs.uk/articles/ – Guidance to support with implementation of pre-treatment screening for aminoglycosides and support recommendations in the MHRA drug safety update on the increased risk of deafness due to a mitochondrial genetic variant when patients are treated with aminoglycosides.
- https://www.cysticfibrosis.org.uk/ – Patient information developed by the Cystic Fibrosis Trust
- Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care – Research article exploring point of care testing in the neonatal setting.
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:
- https://www.genomicsengland.co.uk/ – our GEL website
- https://www.generationstudy.co.uk/ – the participant website for the Generation Study