For any enquiries about speaking opportunities or if you have an interest in hosting one of our workshops please email Amanda Rafferty Amandarafferty@precisionmedicineforum.com
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A panel of expert speakers from across the Benelux region will share their views on what has been achieved to date in the implementation of precision medicine; where they believe it is heading in the near future; and where the focus needs to be in order to achieve key aims and objectives. Topics to be discussed include:
- Examining key advancements and enablers in the development and implementation of precision medicine
- Identifying the current legal, regulatory, societal and ethical obstacles restricting its further development
- Assessing how regulatory and healthcare frameworks in different countries need to adapt to overcome these obstacles and enable innovation and delivery:
- what can be done to improve reimbursement pathways for precision medicine to encourage better collaboration between regulators and health technology and diagnostic test providers?
What does FAIR mean to you? is the central question for this session. Which data would you like to use, for what purpose and under what conditions?
The genomes of thousands of Dutch individuals are now profiled annually in healthcare and research. This has greatly increased diagnostic yield, provided many clinically actionable insights and has dramatically increased our understanding of genotype-phenotype relations.
However, 60-70% of rare disease patients are left without a diagnosis, choosing the right (expensive) advanced cancer treatment for patients who do not respond well to conventional treatment is still more or less comparable to flipping a coin, and routine use of genomic data to enable personalized medicine is still an unfulfilled promise. Integrated analysis of all these genomic data will help to to dramatically improve healthcare benefits and research progress.
The FAIR genome project aims to promote large scale (re)use of all human genomic data in the Netherlands to maximize knowledge extraction for research and healthcare, while considering needs of all stakeholder groups including patients/participants and addressing ELSI issues. This aligns well with the ambition of The Netherlands to actively participate in the European One Million Genomes (1MG).
The FAIR Genomes Project
This project will invest in harmonization of essential aspects of the genomics data workflows and reporting across all data-generating centers in the Netherlands. Based on the ZonMw hiatus analysis we will in particular bridge barriers in Findability, Accessibility, Interoperability and Reusability (FAIR) aspects of genomics data, including bundling of all relevant genomic and phenotypic metadata necessary for knowledge extraction, process metadata for quality and health technology assessment (HTA), and a ‘shrink wrap’ license to protect patient/participant rights and consents. In the first phase of the FAIR Genomes project, we make an extensive inventory of purposes for which these genomic data could be re-used and of metadata that would be necessary for these purposes.
This interactive session is specifically designed for those who wish to have a say in how genome data are generated, stored, shared and (re-)used. Representatives from the FAIR Genomes project will provide a snapshot of the genome data landscape in the Netherlands, its background, and its outlook. Participants will then use an interactive approach to explore and discuss the many aspects of FAIR, with the aim of generating input to the national guideline and corresponding harmonisation tools that will be developed.
In this workshop, challenges encountered in clinical practice in the implementation of pharmacogenetics will be discussed, such as the degree of quality control needed, ethical aspects, legal issues, SNPs to analyse, pros & cons of specific DNA genotyping approaches, how to report, who to inform on the outcome of test results, insurance company aspects, the role of the GP and specialist, role of the pharmacist, patient empowerment and how to deal with new insights in the field.
This list is not definitive at this stage. Additional topics will be added in due course. If you would be interested in facilitating a workshop, or have ideas for topics, please contact us.
- Examining the increasing need for personalised diagnostics to drive precision medicine
- Examples of clinical impact through diagnosis using X-omics biomarkers
- Fast translational biomarker implementation in clinical laboratories
- View on next generation X-omics technology and integration
- Exploring how the journey from research to implementation could be accelerated
- Integrating technology with existing healthcare databases to give better patient knowledge and insight
- Getting big data into clinical decision support frameworks: how can the flow of health data be facilitated?
- Exploring how broad genomic profiling can be turned into valuable information that can be used quickly and easily for patients’ benefit in clinics
- Understanding actual vs perceived barriers to the sharing of genomic and health data:
- working with relevant stakeholders to influence and overcome these barriers
- Examining the extent to which the introduction of GDPR has impacted on the accessing and sharing of healthcare data, and how this can be managed
- Managing patient privacy and confidentiality concerns regarding healthcare data sharing
- Effectively linking patient e-health records and national data registers to establish a research database and facilitate shared decision-making
- Exploring the use and potential of blockchain-based data sharing and access
- Exploring new methods for integrating genetic data that is from different sources, in different formats, processed in different ways:
- finding the meaningful overlap and reducing “noise”
- techniques for normalising the data
- Successfully integrating lifestyle and behavioural data with biological information
- Developing robust, transparent and standardised bioinformatic pipelines to provide timely and useful clinical information
- Using new data analysis tools to gain better insights from the information available
- Techniques for reporting the findings in a coherent way: encouraging closer interactions between bioinformaticians and clinicians for better clinical reporting
- Stratification/reclassification of patients with clinically defined rheumatological diseases
- Integration of multi-cellular OMICS data generated from immune cell profiling
- Systems Immunology: from proof-of-concept to translational research
During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily-accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case of monogenic heritable disease, background maternal cfDNA prohibits direct observation of the maternally inherited allele. Non-invasive prenatal diagnostics (NIPD) of monogenic diseases therefore relies on parental haplotyping and statistical assessment of inherited alleles from cffDNA, techniques currently unavailable for routine clinical practice. Here, we present Monogenic NIPD (MG-NIPD), which requires a blood sample from both parents, for Targeted Locus Amplification (TLA)-based phasing of heterozygous variants selectively at a gene of interest. Capture probes-based targeted sequencing of cfDNA from the pregnant mother and a tailored statistical analysis enables predicting fetal gene inheritance. MG-NIPD was originally validated for eighteen pregnancies, focusing on the CFTR gene, the CYP21A2 gene, and HBB. In all cases we could predict the inherited alleles with >98% confidence, even at relatively early stages (8 weeks) of pregnancy. This prediction and the accuracy of parental haplotyping was confirmed by sequencing of fetal material obtained by parallel invasive procedures. MG-NIPD requires standard instrumentation and promises to provide families carrying a severe genetic disease with a robust and affordable methodology for non-invasive diagnosis based on a simple blood draw. We will present our current efforts to implement MG-NIPD in the clinic, eventually to replace invasive procedures for assessment of inheritance of monogenic diseases.
- Examining the emerging research into associations between the human microbiome and disease
- Understanding how individual host-microbiome associations can be integrated with other “omics” data to develop precision medicine approaches
New digital and machine-based technologies have the capability to revolutionise healthcare and drive precision medicine forward through more efficient patient-monitoring, real-time diagnoses, faster drug development, and more. This session will look at the application of new health-tech and digital developments; the benefits they are realising and the challenges to their further adoption.
This session will provide insight into how a tailored digital coaching programme can support self-management of the patient:
- outlining how self-management level might give an indication of future health outcomes
- sharing experience with telemonitoring and what important factors to take into account when implementing e-health solutions and telemonitoring programmes
Since chemical modifications of DNA or histones are reversible processes, there is potentially a huge benefit in modulating such modifications for the treatment of human cancers using pharmacological drugs. To achieve such anti-cancer therapy, it is essential to decipher the molecular mechanisms underlying epigenetic and epigenomic perturbations in tumours. We will present our recent efforts, to better understand and map epigenetic alterations in cancers, including DNA methylation and hydroxymethylation.
We will also discuss about our very recent work on an emerging realm of biological regulation, termed RNA epigenetics. We will present our ongoing attempts to decipher the roles of RNA modifications in cancer.
- Examining the impact on the healthcare professional (HCP) and their role:
- how do HCPs need to adapt to deliver the healthcare of the future?
- effectively managing increasing patient empowerment
- Communicating and convincing HCPs of the validity and potential of new personalised treatments and therapies
- Assessing the infrastructure, data and technology changes required to current healthcare systems in order to deliver a precision medicine approach
- Developing and implementing precision medicine training programmes for healthcare professionals
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