29th - 30th January 2025 | ExCeL, London
HEALTHCARE TRANSFORMATION
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 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
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PGx Elective or Reactive: Optimizing Drug Therapy through Pharmacogenomics
- Elective vs. Reactive PGx: Exploring the differences between elective and reactive pharmacogenomic testing.
- Exploring genetic variability in pharmacokinetics and pharmacodynamics: an in-depth look at how the genome modulates drug responses
- Personalized Medicine: Using genetic insights to guide precise drug and dosage selection for patients.
- Real-World Applications: Key case studies where elective and reactive PGx have made a difference in therapeutic decisions.
- Implementation Strategies: Challenges and solutions for integrating PGx into clinical practice at both elective and reactive levels
Sponsor
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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
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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
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Applications in respiratory and immunology pipelines
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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
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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
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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
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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
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Pharmacogenetic and PRS implementation
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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
DAY 2
On Day 2, The Healthcare Transformation 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
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AI Meets Real-World Evidence: Transforming Drug Discovery and Development
- The evolving role of AI in RWE
- How can AI tools help enhance predictive power
- What are the regulatory and ethical considerations
- Future outlook
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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.
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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
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Defining Disease at Scale in Electronic Health Records
- Large-scale Electronic Health Records (EHR) are a key component in biobank studies. Combined with biobank-specific data, they are increasingly important for disease phenotyping, and to enable the longitudinal follow-up of the participants
- However, defining phenotyping algorithms is complex and variability in methods hinders research reproducibility
- I will present our computational framework, exemplified in the UK Biobank, to a) create phenotyping algorithms to identify diseases combining multiple sources of data, and b) validate the algorithms using multiple approaches. Our framework is extensible and transferable across biobanks
Speaker
Senior Research Fellow in Health Data Science
Institute of Health Informatics, 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
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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
[topic] RNA-SEQ
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Exploring The Diagnostic Potential of RNA-seq Data in Neurodevelopmental Disorders
- Transcriptome analysis holds promise to improve the diagnostic yield in neurodevelopmental disorders. We explored the diagnostic potential of RNA-seq in 96 patients including 67 undiagnosed subjects with NDDs.
- Analysis was performed by a user-friendly web application, and candidate pathogenic transcriptional events were confirmed by secondary assays.
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Building the web-accessible application has enabled RNA-seq to be utilised as a molecular diagnostic tool across multiple disease areas without the time-limiting factor of needing a bioinformatician doing every analysis on every patient
Speaker
Associate Professor, Clinical Laboratory Geneticist
Erasmus University Medical Center
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Advancing Rare Disease Research With Omics Technologies
To investigate the high proportion of unresolved diagnoses in Rare Disease patients, NIHR BioResource has started two major research programmes
- (1) RNA phenotyping project
- Samples from 1,000 Rare Disease patients (17 Rare Disease areas) will undergo short read and long read WGS, RNA sequencing on 4 isolated blood cell types and proteomics methodologies, generating a wealth of in-depth genomic and expression data across these disciplines to facilitate discovery of new disease mechanisms
- (2) Long Read Sequencing project
- Generate WGS data on a further 3,000 patients across 15 Rare Disease areas which are diagnostic negative using short-read sequencing technology This will enable investigation of whether technology improvements (longer reads) will enable detection of variation in difficult to sequence or align genome regions and generate epigenetics (methylation) data
Both projects aim to enhance the knowledge base for these Rare Diseases and enable new genomics discoveries and research avenues or enhanced diagnostic detection with the aim of reducing the diagnostic odyssey and developing new treatments