Genomics Now: The Podcast Series

Genomics Now is a series of conversations hosted by clinicians and scientists of the North Thames Genomics Medicine Service. These bitesize episodes explore how clinical genomics is developing in England’s National Health Service (NHS), helping the healthcare workforce understand how the NHS is embedding genomic testing across the system, answering common questions and discussing how data can be used to successfully improve patient care.

Listen and learn about genomics in bitesize episodes!

You can listen here or get the podcast on Apple Podcasts, Google Podcasts, Spotify or Amazon Music!

Help us develop more NTGMS Genomics Now podcasts for you. Click here to rate the podcast and let us know what genomic topics you would like to hear about next.

Series 1: NHS Genomic Medicine Service

Authored by Shazia Mahamdallie (Principle Scientist in Cancer Genomics, North Thames Genomic Laboratory Hub) in collaboration with Dr. Dahlia Hopmeier (Genomics Clinical Fellow, Great Ormond Street Hospital) and Dr. Emma Clement (Consultant in Clinical Genetics Great Ormond Street Hospital)

Recorded in June 2021

The NHS Genomic Medicine Service (GMS) for England has been established to deliver genomic technology and science to improve the population’s health. In this series we talk on how the GMS evolved, how the NHS infrastructure has changed to allow genomic testing to become part of routine care and the healthcare areas the GMS is committed to deliver. 

Speakers: Shazia Mahamdallie and Dr. Dahlia Hopmeier

In the episode we explain the basics of genes, genomes, genetics and genomics. We explore the difference between genetics and genomic testing, and how they have evolved in the NHS.

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Supporting resources from the NHS Health Education England Genomics Education Programme:

– Genomics 101 Online Courses

– Genomics in the NHS Animation

Speakers: Shazia Mahamdallie and Dr. Dahlia Hopmeier

In this episode we explain what the 100,000 Genomics Project was and how this research Project paved the way for genome-based testing to become part of routine care in the NHS.

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Speakers: Shazia Mahamdallie and Dr. Dahlia Hopmeier

In this episode we explore how NHS England’s Genomic Medicine Service is practically bringing genomic testing into routine clinical care and how the role of the associated Genomic Medicine Service Alliances are working together to both embed and realise the potential of genomic testing across the health service.

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Supporting resources from NHS England and NHS Improvement:

– Introduction to the NHS Genomic Medicine Service

– Blog from Professor Dame Sue Hill: NHS Genomic Medicine Service Alliances to help embed genomics into patient care pathways

Speakers: Shazia Mahamdallie and Dr. Dahlia Hopmeier

In this episode we concentrate on exploring the purpose of two of the Genomic Medicine Service’s components, the Genomic Laboratory Hubs (GLHs) and the National Test Directory.

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Supporting resources from NHS England and NHS Improvement:

– NHS England The National Genomic Test Directory

– Genomics England PanelApp

Speakers: Shazia Mahamdallie and Dr. Dahlia Hopmeier

In this episode we explain some of the information to consider that can help guide healthcare professionals in choosing the appropriate genome-based test for patients, this in the context of conditions such as rare disease or cancer.

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Series 2: Primary Care Genomics Medicine

Authored by Dr. Dahlia Hopmeier (Genomics Clinical Fellow, Great Ormond Street Hospital) in collaboration with Dr. Anwar Khan (General Practitioner).

Recorded in May 2021

In this series the role of genomics in improving patient care in general practice is explored. Advice and explanations for general practitioners to guide the use of genomics in their practice are given, and the vital role that primary care plays in supporting the equity of access to genomic tests is discussed.

Speakers: Dr. Dahlia Hopmeier and Dr. Anwar Khan

In this episode the role of genomics in primary care is discussed, Examples of scenarios that GPs may encounter in their practice are given, and the role of the GP in increasing genomic testing and diagnosis is explored.

Listen here:

Supporting resources:

– NHS Health Education England Genomics Education Programme

– Future Learn online courses

– Royal College of General Practitioners: Genomics Toolkit

Speakers: Dr. Dahlia Hopmeier and Dr. Anwar Khan

This episode gives examples of the most common genomic diseases and genomic “red flags” that GPs may encounter, and touches upon what should prompt them to “think genetics”, or to consider referral for further genetic assessment.

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Supporting resources:

– NHS England The National Genomic Test Directory

– Genomics England PanelApp: List of panels

Speakers: Dr. Dahlia Hopmeier and Dr. Anwar Khan

This episode explains the variability of direct-to-consumer tests and the potential limitations and risks. The role of the GP in interpreting results from these tests is explored, with reference to the Royal College of General Practitioner’s position statement.

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Supporting resources:

– Health Education England, Genomics Education Progamme Blog: Direct-to-consumer testing: a clinician’s guide

– Royal College of General Practitioners: Genomic Position Statement

Speakers: Dr. Dahlia Hopmeier and Dr. Anwar Khan

This episode focuses on simple explanations on genomics for patients to enable primary care practitioners to discuss genomics in their daily practice.

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Supporting resources:

– Health Education England, Genomics Education Progamme: Genomics Game Factsheets

Speakers: Dr. Dahlia Hopmeier and Dr. Anwar Khan

In this episode the concept of pharmacogenomics is explained along with examples of pharmacogenomics already in use by the NHS. The role of pharmacogenomics in general practice and predictions for the future are also discussed.

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Supporting resources:

– Health Education England, Genomics Education Progamme Blog: What is pharmacogenomics?

– Health Education England, Genomics Education Progamme Blog: Pharmacogenomics: a new normal for the NHS?

– NHS England: Improving Outcomes Through Personalised Medicine

Series 3: Genomics in Disease

Authored by Dr. Dahlia Hopmeier (Genomics Clinica Fellow, Great Ormond Street Hospital) in collaboration with Dr. Angela Brady (Consultant Clinical Geneticist, North Thames Genomic Laboratory Hub), Dagmar Tapon (Genetic Counsellor for Fetal Care, Queen Charlotte’s and Chelsea Hospital), Dr. Rhiannon Melis (Clinical Training Fellow, North Thames Genomic Laboratory Hub) and Dr. Helen Grote (Consultant Neurologist, Chelsea and Westminster Hospital NHS Foundation Trust)

Recorded in June 2021

This series explores the role of genomics in disease, and the ways in which genomics can be used to improve patient care in various clinical scenarios including cancer, rare disease and prenatal medicine.

Speakers: Dr. Dahlia Hopmeier and Dr. Angela Brady

This episode gives a brief overview of the role of genomics in cancer and explains key concepts including familial cancer syndromes and diagnostic versus predictive gene testing..

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Supporting resources:

– NHS Health Education England Genomics Education Programme: Cancer Genomics

– Future Learn online course: Cancer in the 21st Century: the Genomic Revolution

– Future Learn online course: Inside Cancer: How Genes Influence Cancer Development

Speakers: Dr. Dahlia Hopmeier and Dr. Angela Brady

In this episode the role of genomics in rare disease is discussed, and explanations of genomic variants and how they are identified and interpreted are given.

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Supporting resources:

– Unique: Registered charity website

– NHS Health Education England Genomics Education Programme: Rare disease: supporting a diagnosis

– Future Learn online course: Diagnosing Rare Diseases: from the Clinic to Research and back

Speakers: Dr. Dahlia Hopmeier and Dagmar Tapon

This episode explains the concept of non-invasive prenatal testing (NIPT) and the roll-out of this technique as an additional testing option in the NHS.

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Supporting resources:

– NHS Health Education England Genomics Education Programme Blog: What is NIPT?

– ARC (Antenatal Results and Choices) Registered Charity Website

– Public Health England Blog: PHE Screening

Speakers: Dr. Dahlia Hopmeier and Dr. Rhiannon Melis

This episode explores the various ways in which fetal DNA can be examined, including fetal exome sequencing. The clinical utility and how this fits into NHS testing pathways is also discussed.

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Supporting resources:

– NHS England and NHS Improvement Guidance Document: Rapid Exome Sequencing Service for fetal anomalies testing

– NHS England The National Genomic Test Directory

– Genomics England PanelApp: List of panels

Speakers: Dr. Dahlia Hopmeier and Dr. Helen Grote

This episode addresses the various implications that genomic test results may have for a patient, as well as their family members. It focuses on the challenges that may arise with regards to sharing of information, and the ways in which families can be supported throughout this process.

Listen here:

Supporting resources:

– NHS Health Education England Genomics Education Programme: Genomics 101: Taking and Drawing a Genetic Family History

– Genetic Alliance UK registered charity website