NEW Lecture/Discussion

Implementing whole genome sequencing in paediatric oncology practice

20 October 2022

Wellcome Genome Campus, UK

Course Summary

Since 2020, whole genome sequencing (WGS) has been available as a frontline test in England for children with cancer, to enable a more comprehensive and precise diagnosis, and access to enhanced personalised treatments. The latest version of NHS England’s National Genomic Test Directory indicates that paired germline and tumour based WGS is available for all malignant tumours (excluding certain subtypes of sarcomas) in paediatric patients. While the same test access is not currently supported through the NHS in Scotland, Wales, and Northern Ireland, the intention is to align availability in these countries to that of England.

Anecdotally, there are reports of low uptake of WGS across different regions in England, citing challenges in implementing pathways to enable WGS, or a lack of education and training opportunities as the main factors. To address these issues, we have invited clinicians and pathologists from all UK paediatric oncology specialist centres, as well as cancer leads from the seven Genomics Laboratory Hubs in England to a one-day in-person workshop, for an open discussion. This initial event will provide an opportunity to share best practice, discuss the issues around implementation, and to collectively consider solutions to improve uptake across the UK.

This workshop is a prelude to a planned series of educational multi-disciplinary team meetings (MDTs). WCS will work with attendees to facilitate these educational MDTs to share learning with colleagues through case-based discussions. The format of these MDTs is based on the concept of ‘distributed’ classrooms, which has been used to provide synchronous virtual training to audiences in different geographical locations – with minimal teaching resources. Further information, including instructions on how to set up the events, will be shared closer to the date.

Learning outcomes

This workshop will enable you to:

  • Compare the application of whole genome sequencing in solid tumours and haematological malignancies in paediatric cancer patients in the UK to existing testing strategies
  • Summarise the process for implementing whole genome sequencing at a local/regional level
  • Define potential barriers to the uptake of whole genome sequencing, and start to plan ways to overcome these.

This course has been approved for 7 CPD credits from The Royal College of Pathologists.


The morning session will include talks from:

  • Professor Dame Sue Hill
  • Parker Moss
  • Dr Sarah Bowdin
  • Dr David Bentley & Dr Mark Ross
  • Dr Liz Hook
  • Dr Jack Bartram
  • Dr Sam Behjati
  • Dr Ruth Armstrong
  • Dr Brian Chung

View the morning programme below:

Morning talks – open to in-person and virtual attendees

10:00 Impact of WGS in Paediatric Oncology: Introduction

Dr Sam Behjati and Dr Patrick Tarpey

Dr Sam Behjati – Wellcome Sanger Institute.

Dr Patrick Tarpey – East Genomics

10:05 Strategic Goals: NHS England

Professor Dame Sue Hill

CSO NHS England, and SRO for Genomics

10:20 Video Presentation: Patient Case Study
10:25 Strategic Goals: Genomics England

Parker Moss

Executive Team of Genomics England

Non-Executive Member of the CRUK Horizon Board

10:45 The East GLH and Paediatrics

Dr Sarah Bowdin

NHS East Genomic Laboratory Hub, CUH NHSFT

10:55 Illumina and the WGS Service

Dr David Bentley and Dr Mark Ross,

Illumina Cambridge Ltd

11:05 Impact and Use of WGS: Pathology

Dr Liz Hook

University Lecturer in Cellular and Molecular Pathology

University of Cambridge
Honorary Paediatric Pathologist, CUH NHSFT

11:15 Morning Break
11:45 How are national and international centres using WGS?
11:45 North Thames: Great Ormond Street Hospital – Haemoncology

Dr Jack Bartram

12:00 East of England: Cambridge – Diagnosis and Prognostics

Dr Sam Behjati

12:15 East of England: Cambridge – Genetics

Dr Ruth Armstrong

East Anglian Medical Genetics Service

12:30 Hong Kong: International Whole Genome Sequencing

Dr Brian Chung

Chief Scientific Officer, Hong Kong Genome Institute

Clinical Associate Professor, Department of Clinical Medicine, LKS Faculty of Medicine, the University of Hong Kong.

12:45 Open Discussion

Led by Parker Moss

13:00 Close morning session

Please note, to allow for free communication relating to the topic of whole genome sequencing, the afternoon workshop will follow ‘Chatham House Rules’ and be closed to virtual attendees.

Scientific committee

This is a Wellcome Connecting Science event developed in conjunction with NHS East Genomic Laboratory Hub, University of Cambridge Dept. of Paediatrics and the Wellcome Sanger Institute Cellular Genetics Programme, supported by Genomics England, Health Education England, CRUK Cambridge Centre Paediatric Cancer Programme, University of Cambridge, Cambridge University Hospitals NHS Foundation Trust and Cambridge Biomedical Research Centre.

Prof Matthew Murray
Professor in Cellular and Molecular Pathology, Department of Pathology, University of Cambridge and Honorary Consultant Paediatric Oncologist, Cambridge University Hospitals NHS Foundation Trust 

Dr Sam Behjati
Group Leader and Wellcome Senior Research Fellow, Wellcome Sanger Institute and Honorary Consultant Paediatric Oncologist, Cambridge University Hospitals NHS Foundation Trust

Dr Patrick Tarpey
Lead scientist for solid cancer, East Genomic Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust

How to apply

In-person attendance is available to clinicians and pathologists by invitation only.

However, our morning talks will be open for virtual attendees who are interested to hear from our expert guest speakers. For a virtual place, please complete the registration form, and a link will be sent to you.

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