GENOMIC MEDICINE STAGE

The Use of Circulating Biomarkers to Optimise Cancer Pathways

Michael Hubank, Head of Clinical Genomics (Research), The Royal Marsden NHS Foundation Trust

• Evaluating new technologies that can be impactful for clinical cancer care
• Trialing these technologies in the clinic and lessons learned
• Future directions of how genomics will continue to innovate cancer care 

Enabling Access to Whole Genome Sequencing for CNS Tumours

Barnaby Clark, Laboratory Lead for Precision Medicine, Kings College Hospital NHS Foundation Trust

• Changes to tissue handling to maximise access to WGS for brain tumours

Maximising Utility of Genomic Data to Access Clinical Trials

Sandi Deans, Deputy Director, Genomics, NHS England

• Implementation of pathways to use standard of care NHS data to identify patients eligble for clinical trials
  

Implementing Rapid Whole Genome Sequencing As The Frontline Genomic Test for Haematological Malignancies

Angela Hamblin, Clinical Lead for Haematology, Central & South Genomic Laboratory Hub

• Overview of the Haematological Genomic Network of Excellence
• Rapid Tumour Only Whole Genome Sequencing Pilot 
  

DNA Methylation Based Testing to Improve Diagnosis of Rare Conditions

Siddharth Banka, Professor of Genomic Medicine and Rare Diseases, University of Manchester

• R431 Genome-wide DNA Methylation Profiling to Aid Variant Interpretation Testing Criteria. 
• Patients must have a plausibly significant VUS in a gene which is covered by this test (see below).
• The list of disorders/genes is available at: https://mft.nhs.uk/app/uploads/2023/08/Methylation-Array-Panelcontent-for-EpiSign.pdf.
• Patients can be referred by clinical genetics or from an appropriate specialty via consultation with clinical genetics.

Genomic testing: Transforming Clinical Care For Cystic Kidney Disease

Caroline Platt, Consultant Paediatric Nephrologist, Bristol Royal Hospital for Children

• Whole genome sequencing in cystic renal disease – an NHS England Service evaluation
  

• Exhibition Floor : Wander around the vibrant exhibition floor to see the latest technologies and services on offer
• Food Options : Grab a sandwich at The Tree of Life Cafe or head on over to the Food Village for a range of hot food options including Indian, Jamaican and Japanese food
• Live Lounge Over Lunch : 15 mins technology focussed presentations
• Poster Zone : Browse the posters and reach out to potential new collaborators
• Talkaoke : The Flying Saucer of Chat, a fun and interactive pop-up show that offers you the opportunity to sit down with others and discuss any topic you like.
• Patient Perspectives: Talks and discussions on the crucial role of patients and patient families in the understanding and development of treatments for rare diseases.

• Why is this important and how are we going about this?
• What progress and partnerships have been made?

Talk 1: The Role of Genetic Counsellors in Upskilling and Supporting Mainstream Cancer Specialties

Gillian Crawford, Clinical Research Fellow and Genetic Counsellor, University of Southampton

• Overview of the Wessex cancer genetics mainstream programme
• Supporting and developing resources for cancer clinicians (surgical and oncology)
• Supporting and developing resources for cancer clinicians (surgical and oncology)

Talk 2: The Genomic Advisor Framework and its Multi-Professional Application

Ed Miller, Senior Education and Development Officer, NHS England

• Developing the capabilities for advances clinical practice in England
• Workforce planning
• Education and development 

Panel Discussion

Talk 1: Education tools to support the delivery of patient pathways

Kate Tatton-Brown, Clinical Director and Head of National Genomics Education, NHS England

• This talk will provide an overview of the tools to support the delivery of patient pathways
• How to access these tools
• Future directions 

Talk 2: Example 1: The Generation study CPI

Amanda Pichini, Clinical Director, Genomics England

• How the Clinical Pathway Initiative development approach was applied to the Generation Study: a national research study investigating the use of genome sequencing in newborns
• Early impacts of the CPI on education and training for a multiprofessional workforce delivering the Generation Study 
  

Talk 3: Example 2: FH CPI

Jude Hayward, GP & Primary Care Lead, North East and Yorskshire GMSA Panel discussuon

• Overview of progress of the Clinical Pathway Initiative for familial hypercholesterolaemia pathway
• Overview of key findings 

Panel Discussion

• Speed Networking: Fun and useful sessions where you’ll rapidly meet other Festival attendees to immediately expand your network.
• Food Options : Grab a coffee and a cake at The Tree of Life Cafe or head on over to the Food Village for a range of hot food options including Indian, Jamaican and Thai food
• Exhibition Floor : Wander around the vibrant exhibition floor to see the latest technologies and services on offer
• Talkaoke : The Flying Saucer of Chat, a fun and interactive pop-up show that offers you the opportunity to sit down with others and discuss any topic you like.

Contextualising The Unified Genomic Record (UGR) As Part of The NHSE Digital Ecosystem

Ming Tang, Chief Data and Analytics Officer, NHS England

• Evaluating new technologies that can be impactful for clinical cancer care
• Trialing these technologies in the clinic and lessons learned
• Future directions of how genomics will continue to innovate cancer care

The Aims and Expected Benefits of The UGR Through The Lens of The 3 Use Cases (Pharmacogenomics, Cancer Clinical Trials and Inherited Cardiac Conditions)

Deborah Porter, Deputy Director Transformation, Genomics Unit, NHS England

• This talk will demonstrate how the UGR will impact Pharmacogenomics, Cancer Clinical Trials and Inherited Cardiac Conditions
  

Architectural Design and Progress Thus Tar in Delivering Interoperability and integration

Scott Watson, Solution Architect, Genomics Unit, NHS England

• Sharing how the NHS England Genomics Digital Team is designing solutions to ensure critical genomic insight is available wherever patients present.
• Learn how the Unified Genomic Record makes data accessible across care settings.
• Explore how digital tools in pharmacogenomics (PGx) help personalise medication for better results
  

The Unified Genomic Record: Proof-Of-Concept and 3 Exemplar Use Cases

Graham Ritchie, Solution Architect, Genomics England

• The Unified Genomic Record (UGR) was proposed in the NHS Genomics strategy as a “longitudinal genomic record across the life course of an individual” intended to “maximise the clinical utility of genomic sequencing”
• In this session we will present a proof-of-concept implementation of the UGR designed to support 3 priority applications: pharmacogenomics guided prescribing identifying cancer patients eligible for clinical trials based on genomic and clinical features supporting clinical management of inherited cardiac conditions

Q&A & Discussion