29th - 30th January 2025 | ExCeL, London
GENOMIC MEDICINE STAGE
Navigating the Translation of Genomics into Clinical Implementation for Patient Benefits at Scale
The Genomic Medicine Stage focuses on translating research to clinical care, workforce education and building digital infrastructure for genomics integration within healthcare.
We also have a range of activities such as workshops and roundtables. Please see here for more information
DAY 1
On Day 1, The NHS take over the Genomic Medicine Stage with a NHS Showcase covering diagnostics, mainstreaming Genomics into Clinical Practice as well as data and digital infrastructure.
[topic] NHS SHOWCASE - TESTING DEVELOPMENTS
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Testing Developments
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
Speakers
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[break] Lunch
- 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
[topic] NHS SHOWCASE - MAINSTREAMING GENOMICS INTO CLINICAL PRACTICE
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Session 1: International Genomics Education and Training Work
- Why is this important and how are we going about this?
- What progress and partnerships have been made?
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Session 2: Diffusion and Development of Genomic Expertise
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
Speakers
Consultant Genetic Counsellor and Honorary Senior Clinical Lecturer
University Hospital Southampton
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Session 3: Integrating Genomics into Clinical Pathways
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
Speakers
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[break] Break
- 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
[topic] NHS SHOWCASE - DEVELOPING THE DATA AND DIGITAL INFRASTRUCTURE
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Developing the Data and Digital Infrastructure
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
Speakers
DAY 2
On Day 2, the Genomic Medicine Stage focuses on women's health, ante-natal testing and newborn screening.
[topic] NEWBORN SCREENING & MATERNAL CARE
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Global Women’s Health Initiatives to Investigate Novel Approaches to Improve Health Care Delivery
- Preventing cardiometabolic complications in women after high-risk pregnancy conditions such as gestational diabetes and preeclampsia using technology and AI
- SMART Health Pregnancy trial in India: This trial is being conducted in two rural districts in two states, and is evaluating a community-based intervention and digital clinical decision support tool to improve screening, management and referral of high risk conditions during pregnancy and in the in first year after birth
Speaker
Director of Women’s Health
The George Institute for Global Health at Imperial College London
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The Generation Study – Newborn Screening through Whole-Genome Sequencing
- Updates on The Generation Study
- How the study is supporting the identification of rare conditions in babies earlier
- How the study is exploring the risks and benefits of storying an individual's genome over their lifetime
- Early findings
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Identifying Newborn Patients with Inborn Errors of Metabolism
- New diagnostic platforms that enable better diagnosis, better understanding treatment and better treatment
- Digital microfluidics to improve diagnosis of newborns with lysosomal disorders Identifying variants of unknown significance functionality
Speaker
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[break] Lunch
- 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
[topic] PRE-NATAL SEQUENCING
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A strategy for the efficient use of optical genome mapping in prenatal genetic diagnostics
- The relevance of fully characterizing genetic aberrations
- Complementing standard-of-care genetic diagnostics with optical genome mapping
- Running a diagnostic pipeline to characterize aberrations, adding information relevant to the pregnancy
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Enhancement of Fetal Phenotyping in Investigation of Fetus Using Next-Generation Sequencing
- Congenital malformations complicate up to 5% of all pregnancies and have increased perinatal mortality and morbidity. Up to 25% of structural anomalies detected by ultrasound are associated with chromosomal aneuploidy and copy number variants (CNVs).
- However, even when these are excluded there is an overall associated long-term morbidity. Internationally, prenatal genomic sequencing, focusing on the exome (ES), is now commonly offered. The pre-test selection of fetuses and identifying a fetal phenotype by a multidisciplinary team of experts is key to increasing the diagnostic yield of such testing, which may be between 30-50%
- However, many dysmorphic features are subtle and require expert ultrasonographic visualization, additional diagnostic imaging (i.e. MRI), and AI technologies to optimize fetal selection for such testing.Presently in many healthcare systems prenatal genomic testing is guided by the recognition of a ‘fetal phenotype’ that is at high risk of associated underlying genetic etiology. But is this selection process changing internationally? "
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Antenatal Reflex DNA Screening for Down’s Syndrome
- Antenatal DNA screening has advantages over other screening methods.
- High screening performance – very low false positive rate and detection rate.
- No uninformative screening results.
- Low cost.
- Preserves AFP screening for neural tube defects.
- Preserves screening for pre-eclampsia.
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[break] Break
- 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
[topic] GENOMICS IN WOMEN'S HEALTH & PREGNANCY
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Understanding the Long-Term Impact of Chemotherapy during Pregnancy: Exploring Third Generation Effects
- Cancer is diagnosed in around 1 in every 1000 pregnancies, estimated to lead to treatment of 3,000-5,000 pregnant patients each year in Europe.
- Chemotherapy drugs can cross the placenta, but are considered safe to administer after the first trimester.
- Surprisingly, follow-up studies on children exposed in utero do not include examining effects on fertility, despite the well-known effects of chemotherapies on fertility.
- My research aims to shed light on whether and how these drugs can affect the developing gonads.
- Results could inform clinicians and help elucidate if the children born to pregnant women treated with chemotherapy should in due course be assessed for fertility preservation
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Causes & Consequences of Intrahepatic Cholestasis of Pregnancy
- Metabolomics and metagenomics impact on cholestasis
- Risk of still birth and management
- Cholestasis of pregnancy association with an increased incidence of adverse perinatal outcomes and risk for gestational diabetes