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26 April 2017
08.00 Registration and welcome coffee
08.55 Chairs Opening remarks:
Henrik Ullum MD, PhD, Professor in clinical immunology at Institute for Clinical Medicine, University of Copenhagen and Chief Physician at Department of Clinical Immunology, Rigshospitalet, where he serves as head of The Copenhagen Biobank Unit and The Virology Section.
09.00 Opening Plenary
Annemarie Lauritsen, Deputy Permanent Secretary, Ministry of Health Denmark
Maj-Britt Juhl Poulsen, Executive Adviser, Team Leader, PhD Health Technology, Business Relations and Regional Development, Danish Regions
Dr Jaakko Yrjö-Koskinen, Ministerial Counsellor at the Social and Health Services Department of the Ministry of Social Affairs and Health of Finland
10.00 Panel Session:
Precision Medicine Thought Leaders – setting the scene for the future of healthcare:
Olli Kallioniemi, Professor of Molecular Precision Medicine at the Karolinska Institutet and Director of the Science for Life Laboratory
Morten Sogaard, Ph.D., Vice President and Head, WRD Genome Sciences & Technologies, Worldwide R&D, Pfizer Inc
Prof Sue Hill OBE, Chief Science Officer, NHS England
11.00 Refreshments and Networking
Chair: Henrik Ullum MD, PhD
Disease Areas; Oncology and Beyond
How Precision Medicine Impacts Drug Development from a CNS Perspective
- A historical perspective
- The impact of a high placebo response
- Disease modification and consequences
- Less acceptance of non-response
- Safety and tolerability aspects
Birgitte Søgaard, Divisional Director Clinical & Quantitative Pharmacology, H. Lundbeck A/S
Personalized medicine with the patient in focus providing patient stratification for prevention, screening, diagnosis, treatment and follow-up; examples mainly form cancer.
- Genotyping and use of biomarkers can address all steps in the disease and prevention process
- A national initiative with the patent in focus is needed to cover all Danish Citizens
- The PerMed process can benefit patients from early on, and also houses the potential for better disease understanding, and is a continuous learning process for all involved including bioinformaticians, molecular biologists, medical doctors and ethical/ legal staff.
Professor Torben Ørntoft, Consultant in Molecular Medicine, Aarhus University
Precision Medicine applications in Dermatology:
Kim Kjøller, Executive Vice President Global R&D, LEO Pharma A/S
Precision Oncology; the war against cancer
Morten Mau-Sørensen, Chief Physician at the Phase I unit, Department of Oncology, Rigshospitalet, Copenhagen. President Danish Association for Cancer Research
How can IBM’s Watson help achieve the goals of precision medicine
IBM’s Watson is helping both life science companies and oncologists around the world in achieving the goals of precision medicine. In this presentation you will hear how Watson is helping researchers in life science companies develop new drugs and oncologists in finding personalized treatments or clinical trials for the individual patient through the use of cognitive computing.
Peter Mortensen, Watson Health Executive, IBM
The Patients Perspective:
The patient as a partner
- Who is the patient?
- Collaboration with health care system and industry – how?
Randi Krogsgaard, Chairman of the Danish Breast Cancer Organization, and Communications Manager Biopeople
Breaking down the barriers to precision medicine
Inspire2Live is convinced that we can get cancer under control by the cooperation of patients, researchers and clinicians and with the combination of emotions and arguments. We know how to do the things that will benefit the patient, we want to do these things and we can do it. So what is preventing us from doing it? Yes, there are barriers like data, law & regulation, money, privacy and of course the publication culture that determines the reward structure; publish or perish. But there is more.
Dr. h.c. Peter Kapitein, Patient Advocate, Inspire2Live
Involving the Patient; new partnerships to improve outcomes
EUPATI is aiming to educate and involve patients in research and development of new medicines in partnerships with academia, pharma and patient organisations
Lotte Klim, Chairperson, EUPATI Denmark
NEXT – a public-private partnership to make Denmark an attractive country for early clinical trials”
- How do we manage a national collaboration?
- What is important to attract commercial clinical trials?
Britta Smedegaard Andersen M.Sc. Pharm, Project Director, NEXT Partnership
Lifestyle and prevention in the context of Precision Medicine – how do we help prevent people from becoming patients
- Lifestyle interventions generally improve cardiometabolic health, but one size does not fit all
- The between-person variability in response to lifestyle interventions has multiple possible explanations, one of which is that individual biological factors modify the effects of such interventions
- Characterising patients’ biological profiles and linking these to response phenotypes might lead to the optimization of lifestyle interventions
Paul Franks, Professor and Deputy Director of Lund University Diabetes Center in Sweden, Head of Genetic & Molecular Epidemiology Unit
From biobanking to precision medicine: An Estonian case
- The design of the population based biobank in Estonia in year 2000
- Linking the data from the EMR to the biobank participants, getting the “lifelong disease trajectories o
- Producing the OMICS data (we have all 52 000 people from the biobank genotyped when the meeting starts)
- Producing the Estonian reference whole genome sequence (30x) database of 2 500 people and imputing the array data
- Delivering the information back to the people using the “genetics first” principle
- complex disease (T2D, CAD)
- incidental findings
– Estonian program for the precision medicine 2017-2022
Andres Metspalu, M.D., PhD. Professor and Director of the Estonian Genome Center, University of Tartu
How can biobanks support precision medicine?
Estrid Høgdall Ph.D, Clinical Senior Investigator, Head of Danish Biobank, Herlev Hospital
Networking Drinks Reception
Chair: Dr Martina Kaufmann, Managing Director, Martina Kaufmann Strategic Consulting
Clinical Implementation of Precision Medicine – Bringing Genomics into mainstream Healthcare:
Multiplex protein analysis of biomarkers in atherosclerosis
Development of atherosclerotic plaque vulnerability involves an accumulation of cytotoxic lipids, an inflammation-driven degradation of the plaque extracellular matrix and a loss of cells with repair function. There is a clinical need for good circulating biomarkers that reflect these processes. While different types of inflammatory biomarkers have been extensively studied biomarkers reflecting cell death as well as extracellular matrix degradation and repair are less well characterized. We have recently shown that activation of apoptotic cell death is associated with a release of soluble death receptors such as Fas and TRAIL receptor 2 that can be measured in plasma. Using the proximity extension assay-based OLINK cardiovascular disease panels we could then demonstrate that subjects with high plasma levels of death receptors have an increased risk of cardiovascular disease. Moreover, an increased risk is also observed in subjects with high levels of the matrix metalloproteinases MMP-7 and -12 as well as in subjects low levels of growth factors for vascular smooth muscle cells and vascular progenitor cells.1, 2 These observations provide clinical support for an important role of vascular injury and repair in the development of cardiovascular disease. Indeed, there is evidence that impaired repair vascular is a key factor in cardiovascular complications to diabetes.3
Jan Nilsson, Department of Clinical Sciences Malmö, Lund University
This talk will cover:
- Standardization of NGS Diagnostics. Why is it necessary and how to do it?
- Secondary usage of genome data. Why is it important?
- Data sharing. Why is it important and how can we make it become a reality?
- Informed consent as an enabler of personalized medicine.
Dag Undlien, Professor, Head of Dept. of Medical Genetics, Oslo University Hospital
Implementing WGS in routine diagnostic settings
Valtteri will discuss the technical aspects of implementing WGS in routine diagnostic settings, and exemplifying this using rare disease diagnostics. How we are achieving the turnaround time and quality required for diagnostic testing, as well as the clinical decision support tools we have developed. This would include quick overview of how we use HPO terms to guide analysis. The goal of all of this is to make WGS the first-line diagnostic test for cases suspected of having a rare genetic disorder.
Valtteri Wirta, Ph.D., Head of Clinical Genomics facility at Science for Life Laboratory
Finn Cilius Nielsen, Professor, Head of Genomic Medicine, Centre for Genomic Medicine, Rigshospitalet – Copenhagen University Hospital
Identifying frequent disease trajectories in population-wide data from millions of patients
Patient record data remain a rather unexplored, but potentially rich data source for discovering correlations between diseases, drugs and genetic information in individual patients. All over the world human genomes are being sequenced at low cost, but in order to interpret genomes they must typically be matched up against disease phenotypes and treatment outcomes from many individuals, eventually arriving at the concept of precision medicine. Many drugs are today prescribed and dosed in a “one size fits all” manner (e.g. using patient weight); the data driven idea in personalized medicine is to identify a better founded relationship between patient features and choice of treatment. A fundamental question is the basic definition of phenotypic categories. As an alternative to the conventional single disease model the talk will describe attempts to create phenotypic categories and patient stratification based on longitudinal data covering long periods of time. We carry out temporal analysis of clinical data in a more life-course oriented fashion. We use data covering 6-7 million patients from Denmark collected over a 20 year period and use them to “condense” millions of individual trajectories into a smaller set of recurrent ones. This set of trajectories can be interpreted as re-defined phenotypes that potentially themselves could be treatment targets as opposed to a single diagnosis or a single disease. Healthcare is today not successful in handling patients with multi-morbidities and the talk will discuss this problem in the context of big biomedical data.
Søren Brunak, Professor, Novo Nordisk Foundation Center for Protein Research, University of Copenhagen
AI/Machine Learning: What is really possible and are there any limits to what AI can help us achieve in a healthcare environment – dispelling the myths.
- Without machine learning we can’t manage the datafication
- Key to success is the collaboration between analytics, technology and substance experts
- AI and health care, ethics is paramount
Visa Honkanen, MD, PhD, Director Strategic Development Head, HUS-Apotti programme Helsinki University Hospital, and Uusimaa Hospital District
Partnerships in Precision Medicine
Enabling innovation in precision medicine through partnerships
Today it is impossible to build all the competences internally. Companies need to partner to gain access to:
- cutting edge technologies
- world class experience and knowledge
- competences not found within the organization
This talk will give examples of how the LEO Science & Tech Hub is building this network in Cambridge (USA)
Michael Sierra, PhD Vice President LEO Science & Tech Hub
Collaboration as a Path to Precision Medicine in Major Depressive Disorder:
- Experiences with biobank samples in Depression
- Thinking differently
- Working differently
Jennifer Larsen, PhD. Systems Biology Specialist, Clinical Pharmacology, H. Lundbeck
Precision Diagnostics a prerequisite for Precision Medicine in complex disease
Prof. Carl A.K. Borrebaeck, Department of Immunotechnology, and Director of CREATE Health –Lund University
Companion Diagnostics – recent advances and future perspectives
Companion Diagnostics have evolved in recent years and will continue to do so based on the evolving regulatory landscape, the emergence of new technologies, and the development of new concepts. This progress will be imperative to the future development of precision medicine
Dr Martina Kaufmann, Managing Director, Martina Kaufmann Strategic Consulting
Multi Omics Technologies – standalone or working together?
The SCAPIS SciLifeLab Wellness Profiling program
The Human Protein Atlas (www.proteinatlas.org) has launched a Tissue Atlas (2014), a Cell Atlas (2016) and will launch a Pathology Atlas in 2017. The resources created within this program has been used to launch the SCAPIS SciLifeLab Wellness Profiling project with extensive integration of imaging data with classical diagnostics and omics-based analysis in which individuals are followed by repeated analysis every third months.
Mathias Uhlen Ph.D, Professor, KTH Royal Institute of Technology
Metabolomics – a yet underexplored tool in precision medicine and nutrition
The metabolome, i.e. the pool of metabolites in a biological system represents a snapshot of the final molecular read out of what has been encoded by the genome, modified by foods, drugs pollutants, gut microbiota and it provides information about the metabolic state of an individual.
Metabolomics signatures of the metabolome are expected not only to provide improved predictive, prognostic, diagnostic and surrogate markers of different disease and health states, but also to provide insights of underlying mechanisms of disease and further allow discovery of biomarkers of intervention response phenotypes.
Metabolomics to provide comprehensive information of individuals’ metabolic state, is a yet under-explored tool in precision medicine and nutrition. Analytical platforms and data handling pipelines have recently been developed, also in the Nordic countries, which makes it possible to measure thousands of metabolite in biological samples. Examples and ideas of how metabolomics data can be used to define variation in responses to treatment and thus provide a powerful tool for precision medicine and nutrition will be given.
Rikard Landberg, Professor of Food and Health, Chalmers University of Technology
Questions and Answers
Networking Drinks Reception