Denotes a link to the speaker's bio page.
A panel of expert speakers from across the Nordic 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 next 5 years; and where the focus needs to be in order to achieve key aims and objectives.
The presentations will be followed by an in-depth Q&A discussion; delegates are invited to ask questions and share their own views.
A. Functional Precision Cancer Medicine - Moving Beyond Genomics
Professor Dr Janne Lehtiö, Professor, Karolinska Institutet & Scientific Director, SciLifeLab
Päivi Östling, Associate Professor, Co-Principal Investigator, Kallioniemi Research Group, SciLifeLab
B. An Industry Interface into Population Genomics at Scale
C. Pharmacogenetics in Clinical Practice: Hurdles to Overcome & Challenges to Solve
D. Polygenic Risk Profiling for Complex Disease
E. A New Era of “Broadband” Sequencing to Realise the Full Benefits of Genomic Information
MGI's newest sequencing platform, MGISEQ-T7, can deliver a maximum data output 6Tb per day, double the throughput currently on the market. MGISEQ-T7 is built with innovative quadruple flow cell staging that allows simultaneous but independent operation of 1 to 4 flow cells in a single run. With MGI's single tube Long Fragment Read (stLFR) technology, the platform enables both long fragment read data of up to 300kb and short read data at 5G (5 billion) reads per flow cell, as well as multiple applications, in the same run on the same instrument. With its breakthrough technologies, MGI advances not only sequencing throughput, but also bandwidth and quality.
This workshop will showcase the MGISEQ-T7 and its capabilities, enabling participants to gain a better understanding of this new era of “broadband” sequencing. Two speakers are users of MGI platforms and would like to share their sequencing projects with us.
A New Era of "Broadband" Sequencing: MGISEQ-T7 Sequencer and Efficient Long Single Molecule Sequencing
A Mammalian Brain Atlas with Transcriptomics Data using Next Generation MGI Sequencing
A Deeper Understanding of Regenerative Medicine using Transcriptomics and Genomics data from MGI Sequencing
Genomic Approaches – and Vastly More - to Overcome Chemoresistance in Ovarian Cancer
MGI Global Sequencer User Program
* please note session E only begins at 15.15 until 16.35
Moderator: Per Wessman, Head of Section Formulation Development, RISE Research Institutes of Sweden
This session, led by Apotekarsocieteten, the Swedish Pharmaceutical Society, will comprise of two presentations on drug development for precision medicine, followed by a panel debate.
- Manufacturing Concepts for Realization of Personalised / Precision Medicine – Advances & Future Directions
- Precision Medicine for Children
- Panel Debate: Important perspectives for the future in precision medicine - regulatory aspects, pharmaceutical manufacturing (processes, formulation and preparation technologies)
- Identifying the current legal, regulatory and ethical obstacles restricting the advancement of precision medicine
- Exploring ways in which regulatory frameworks need to adapt to overcome these obstacles, and enable innovation and delivery
- Examining how the disease and drug classification system could change to enable a broader, biological approach
- Outlining the regulatory and ethical perspective with regards to data access and sharing and the use of AI in precision medicine
- Identifying trends or patterns in one single data set (methods around Principal Component Analysis)
- Extracting common information from two or more biological/omics datasets acquired on the same samples or patients (PLS related methods)
- Classifying samples or patients based on one or more biological/omics datasets (supervised analysis, PLS-DA)
- Selecting the most relevant variables involved in the relationships between several datasets (sparse variant or previous methods)
Developing novel methods for multi-omics data integration to extract biologically relevant information (new developments around kernel methods)
- 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 concerns regarding healthcare data sharing:
- finding and communicating the balance between patient protection vs scientific discovery
- Effectively linking health-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 how AI and machine learning can facilitate the development of complex, digital biomarkers for the objective assessment of disease progression
- Using the potential of AI to overcome traditional bottle-necks in new drug discovery and development
Validated, predictive biomarkers are key to the further advancement of precision medicine, and the bridge between research and clinical practice. However almost 90% of biomarkers identified cannot be used as they have not been validated in clinical trials. This session will look at the future development of biomarkers, how their use in clinical practice can be facilitated, as well as new diagnostic techniques for disease prediction and prognosis.
Pharmacogenetics: A DNA passport for medication for every person?
DNA analysis to guide drug treatment is gaining in interest and clinical use. But how far are we today from using pharmacogenetics information in daily practice? This presentation will consider the following questions: What can we do now? What are the limitations? What are the current challenges? What is the next step in personalized medicine with respect to using our DNA information?
- Exploring the benefits of using polygenic risk scoring for multi-factorial complex diseases
- Assessing the potential of polygenic risk scoring as a clinical tool for risk prediction or prognosis:
- identifying the challenges to be overcome and further research required
- likely timescales for adoption into clinical practice
The effective implementation of precision medicine needs collaborative approaches, both national and cross-border. Identifying stakeholders, bringing them together, and finding appropriate financial mechanisms are all key elements for success. Examples of innovative collaborative projects for advancing precision medicine will be presented here.
The Danish National Genome Center is about to be established with the primary task of laying the foundation for the development of better diagnostics and more targeted treatments using whole genome sequencing. It will develop state of the art infrastructure to enable analysis of big biomedical heterogenous data to provide personalised medicine solutions.
This presentation will give a first insight into the build-up phase, the political process, the new infrastructure and its implementation.
Genomics studies still contribute the vast majority of precision medicine-based data. However, it is being increasingly recognised that it is not enough to just look at DNA, and instead it is necessary to understand the whole-body narrative. Taking a system biology approach and examining multiple -omics, using information from the genome, proteome, metabolome and transcriptome to identify critical drivers and pathways of disease is being increasingly used to develop personalised medicine strategies.
- Optimising national quality registers to create a decision-making support framework based on genomic data
- Integrating technology with existing healthcare databases to give better patient knowledge and insight
- Exploring how we can turn broad genomic profiling into information that can be used quickly and easily for patients’ benefit in clinics
- Detailing how we use the data currently available to us
- Outlining what we would like from research and the information that is most beneficial to us in consulting with, and treating, patients
- Effectively communicating new advances in research, trials or drug testing – what information and evidence we need to be convinced of their value
Andreas Pahle, Board Member, Norwegian College of General Practice & Head of the Digital Health and Personalised Medicine Group, Norwegian College of General Practice & General Practitioner, Bolteløkka Medical Centre
- Assessing the infrastructure, data and technology changes required to current healthcare systems in order to deliver a precision medicine approach
- 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
- Developing and implementing precision medicine training programmes for healthcare professionals
This final Q&A discussion session will look at the challenges discussed previously around translating academic and laboratory research into clinical practice and give delegates the opportunity to share their own thoughts and experiences on what is needed to make precision medicine a reality. Is it down to changes in regulation and healthcare systems, or do we need to create a more open dialogue between academia, clinicians and patients to create better flexibility, foster innovation and deliver progress.