HEALTHCARE TRANSFORMATION AND PUBLIC HEALTH

Innovating Healthcare through Pharmacogenomics, PRS, AI and EHRs 

Explore pharmacogenomics implementation, AI's role in healthcare and unlocking clinical healthcare records for discovery. Presentations address ethical, legal and practical challenges in genomic medicine integration.

DAY 1


On Day 1, The Healthcare Transformation and Public Health Stage focusses on Pharmacogenomics and Polygenic Risk Scores.

On Day 2, it focusses on AI in Healthcare as well as leveraging clinical data from electronic health records.


[topic] PHARMACOGENOMICS
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Next Steps in Precision Medicine
  • The impact of pharmacogenomics on precision medicine
  • Preventing ADRs and addressing diversity in trials
  • Delivering PGx programmes and future directions
Speaker
Matt Brown
Chief Scientific Officer
Genomics England
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More details to be announced shortly.

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The Role of Pharmacogenomics in Genomic Health
  • The importance of pharmacogenomics in medicine safety
  • The current knowledge of pharmacogenomics
  • The pathway to healthcare implementation
Speaker
Sir Mark Caulfield
Professor of Clinical Pharmacology
Queen Mary University of London
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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] PHARMACOGENOMICS AND POLYGENIC RISK SCORES
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Using Common and Rare Variants to Risk Stratify to target Prostate Screening
  • RNA structure evaluation to target the small molecules
  • Benchmarking RNA structure prediction methods
  • Applications in respiratory and immunology pipelines
Speaker
Rosalind Eeles
Professor of Oncogenetics, Group Leader
The Institute of Cancer Research
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Pharmacogenomics in Wales
  • Updates on the PGx workstreams set up in Wales
  • Strategic workforce plan
  • Examples of success
  • Moving forward with the clopidogrel pilot 
Speaker
Sophie Harding
Pharmacogenomics Lead
The All Wales Medical Genomics Service
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Critical Evaluation of the Performance & Utility of PRS in Screening & Prediction of Common Diseases
  • Critical evaluation of the use of genomic and biomarker data for disease prediction and stratification
  • Why PRS perform less well in screening and prediction prediction of common diseases than often claimed
  • Controversies around using PRS and reasons for the polarization of opinion on healthcare transformation
Speaker
Aroon Hingorani
Chair of Genetic Epidemiology
University College London
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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] POLYGENIC RISK SCORES
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Leveraging Disease Comorbidities to Identify Common and Distinct Genetic Architecture of Common Diseases
  • Multivariate GWAS analysis
  • Polygenic risk scores for multiple traits
  • Proteomic and metabolomics to understand disease pathways
Speaker
Ioanna Tzoulaki
Professor of Chronic Disease Epidemiology
Imperial College London
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Polygenic Risk Scores & Pharmacogenomics Approaches in Type II Diabetes
  • Diabetes research on patient stratification
  • Genetic drivers of heterogeneity in type 2 diabetes in ethnic groups
  • Pharmacogenetic and PRS implementation 
Speaker
Colin Palmer
Chair of Pharmacogenomics
University of Dundee
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Polygenic Risk Scores For Disease Risk Prediction in Africa
  • Overview of the challenges of transferability of PRS predictions to the African population
  • The utilisation of large-scale African ancestry cohorts for PRS development
  • Overview of the clinical utility of PRS in African populations, and future directions
Speaker
Segun Fatumo
Full Professor & Chair of Genomic Diversity
London School of Hygiene & Tropical Medicine

DAY 2


On Day 2, The Healthcare Transformation and Public Health Stage focusses on AI in Healthcare as well as leveraging clinical data from electronic health records.

On Day 1, it focusses on Pharmacogenomics and Polygenic Risk Scores.

[topic] AI IN HEALTHCARE TRANSFORMATION
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Implementing Genomics into Primary Care through Advances in Genomic Technology and 'Big Data' Research Methods: A Focus on Hypercholesterolemia
  • Understanding the barriers and enablers of pharmacogenomic testing in primary care
  • Stratifying patients' with raised cholesterol care according to characteristics identified in primary care databases and through genomic testing
  • Advances in genomic technology and ""big data"" research methods
Speaker
Nadeem Qureshi
Clinical Professor of Primary Care
University of Nottingham
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The Unseen Hand: How AI-Informed Prescribing can Impact our Understanding of Real-World Medicine Safety and Effectiveness
  • AI can be used to inform prescription decisions, potentially leading to better outcomes for patients.
  • Examples of these tools include drug-drug interaction checkers and treatment success prediction tools. These tools may alter our perception of medicine safety and effectiveness in the real world, as they can change when and where medicines are prescribed.
  • We need to understand how these tools work, whether they are fair to everyone, and whether they are appropriate for the populations that they are used in.
Speaker
Harriet Dickinson
RWE Director
Gilead
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Using Large Language Models in Variant Interpretation
  • Exploring the potential of LLMs in automating evidence extraction from scientific literature to support ACMG variant classification.
  • Addressing challenges in variant retrieval and normalization using NLP techniques.
  • Evaluating the current limitations of applying LLMs in clinical variant interpretation.
  • Future directions: Developing standardized benchmarks and improving LLM reasoning capabilities for genomic applications.
Speaker
Joseph Halstead
Lead Bioinformatician
Cardiff and Vale University Health Board
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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] LEVERAGING CLINICAL DATA FROM EHR'S
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From Clinical Real-World-Data to FAIR Research data: The Swiss Personalized Health Network (SPHN)
  • Research and healthcare must go hand in a learning, data-driven health system SPHN is establishing a federated national infrastructure for the responsible sharing of sensitive health data for research and further secondary uses
  • The SPHN framework integrates data governance, data interoperability and information security end-to-end
  • A Swiss node for the federated European Genome-Phenome Archive will facilitate access to genomic data for the research community
Speaker
Thomas Geiger
Managing Director
Swiss Personalised Medicine Health Network
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Defining Methods to Develop Disease Phenotypes in a Reproducible Manner From EHR’s
  • How can AI support drug target ID and early drug discovery (e.g. molecule design and optimisation).
  • Applying AI in precision medicine approaches.
  • How can AI be used in the later stages of clinical development (e.g. improving/optimising clinical trials).
  • What are the challenges associated with using AI such as integrating huge data sets, access to high quality data and how can we demonstrate these tools are robust and reliable.
  • What are the other privacy concerns associated with using AI to process sensitive genomic and clinical data sets?
Speaker
Ana Torralbo
Senior Research Fellow in Health Data Science
University College London
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Using Routinely Collected EHR Data in Large Scale Studies
  • Using Routinely Collected EHR Data in Large Scale Studies
Speaker
Katherine Ruth
Lecturer in Clinical and Biomedical Sciences
University of Exeter
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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 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 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.
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More details to be announced shortly