Thursday, 7 November




Welcome address and introduction

Iain Mattaj, Director General, European Molecular Biology Laboratory, Heidelberg, DE

Michele Garfinkel, Science Policy Programme, EMBO, Heidelberg, DE


Keynote talk

Health care policy and research – for mutual benefit 

The shift from reactive medicine to proactive, preemptive and preventive health care will change our traditional disease classification. Rather than focusing on constellations of symptoms, diagnosis and treatment will focus on integrating information from multiple sources, not only genomics and other "omics" technologies, but also environmental and life style data. This new disease taxonomy demands large amounts of data and their intelligent use, and also data shared by patiens and citizens may contribute. The development of tailored interventions will require ethical and legal safeguards, new trial designs, more roboust models to identify prevention strategies, and also Health Technology Assessment and reimbursement will need to adapt to personalised medicine. The challenge will be to translate the new knowledge into health care benefits for the European citizens on a day-to-day basis. A data set for each citizen may emerge, and models will be generated so that each citizen will have a virtual twin, that can be used to model and predict outcomes. The structure of the health care profession will need to undergo a radical overhaul with stronger interdisciplinarity, shared expertise between existing medical specialities and cross disciplinary interaction between health care, clinicians, bioscientists, technologists and research funders, organisers, universities, research performing organisations, legislators and policy makers on both a national and a European scale. The global dimension will be increasingly important – and patients and societies must be the core issues for all stakeholders.

Collaboration between health care and policy and research will be essential. European health and research policy is complex, and this talk will try to apply the helicopter view and give advice on how to navigate to secure the successful introduction and sustainable implementation of personalised medicine for the benefit of all patients and citizens in Europe and globally.


video of the talk

Liselotte Højgaard, University of Copenhagen and Danish National Research Foundation, DK

Introduced by Sandra Bendiscioli, EMBO, Heidelberg, DE


SESSION I – Genes, diseases and dollars

Chaired by Lars Steinmetz, European Molecular Biology Laboratory, Heidelberg, DE


Jan Korbel, European Molecular Biology Laboratory, Heidelberg, DE

Human genetic variation in health and disease

In my presentation I will talk about my research at EMBL: the mechanisms causing alterations in our genetic code, and their effects. I will present some results from our projects charting human genetic variation in healthy individuals and individuals affected by diseases, and from sequencing the genomes of individuals with advanced cancer to learn about the biology of metastasis formation, genetic heterogeneity of cancer, and possible treatments. My talk will cover the role of genetics in understanding disease and disease risk, and summarize and discuss my thoughts about the promise and implications of human genome sequencing for medicine, science and society.

video of the talk


Coffee break


Geneviève Almouzni, Institut Curie, FR

Epigenetics – Beyond the Genome

The most common definition of epigenetics covers the study of heritable changes in gene expression independently to changes in the DNA sequence. Epigenetics has attracted much interest in a wide variety of research areas with application potential in medicine. Indeed, there are now indications that some diseases, such as cancer, diabetes and obesity, and neurological disorders like schizophrenia, cannot be explained solely by DNA mutation but may be associated with epigenetic changes. These are changes in gene expression that do not result in changes in the DNA sequence. Societal discussion on the topic is important in the context of the promises offered for the practice of medicine and the implications of this for society. The objective of the presentation is to introduce the basic mechanisms of epigenetics and illustrate their effects in heath and disease, illustrate some current medical applications (e.g. in the treatment of cancer) and discuss potential future clinical applications. Moreover, the role that epigenetics has assumed in the debate on genetic determinism and human freedom will also will be discussed. Check out the EpiGeneSys Network website ( for more information on epigenetic science, including epigenetics explained to the general public.

video of the talk


Peter Goodfellow, University of Kent, Canterbury, UK

The economics of producing and selling drugs

Governments and charities, world-wide, spend approximately $70 billion each year on academic biomedical research; the pharmaceutical industry and the biotechnology industry combined also spend about $70 billion each year on research and development. The combined expenditure of $140 billion produces between 5 and 10 new classes of drugs each year. Producing new therapies is not only expensive but it also takes a long time – the usual time from basic science concept to practical therapy, available to patients, is 20 years. The high risk of failure, the high cost and the long time period can only be balanced in a capitalist society by very high potential returns. In those countries where universal access to the best of health care is deemed to be the sign of a civilised society there is an obvious conflict between rewarding capital risk and availability of new therapies. In theory, application of new technology should be able to reduce the costs of making new therapies. In practice, the reverse has been the case. New technologies have been used to justify increased prices and the cost of healthcare continues to rise faster than general inflation.

video of the talk


Lunch in ATC foyer

SESSION II – Genomic research: Science and policy

Chaired by Michele Garfinkel, Science Policy Programme, EMBO, Heidelberg, DE


Paul Flicek, EMBL-EBI, Hinxton, UK

Ever bigger projects and genomics as an information science

In the past decade, dramatic advances in DNA sequencing technology have allowed large-scale scientific projects to grow from the initial effort to sequence a single human genome in 2000 to the 1000 Genomes Project in 2008 to a wide diversity of projects generating tens of thousands of genome sequences today. From one point of view, this is exactly what was predicted: there are now serious and feasible plans to sequence the populations of small countries, while others are discussing the pros and cons of sequencing every baby born or every person with cancer. To fully realise the potential of genomics in medicine and society we must also see genomics as an information science and support the significant investment in data management and analysis infrastructure required to do so. In fact, the cost of these basic informatics tasks is already a significant portion of the total cost to "sequence someone's genome" and may be the dominant cost in the near future. Fortunately, efforts such as the 1000 Genomes Project and the International Cancer Genome Consortium have lead not just to increased knowledge of normal and diseased genomes, but also to the creation of robust and flexible tools for storing, processing and understanding all genome sequences.

video of the talk


Jane Kaye, University of Oxford, UK

From cottage industries to the Human Genome Project - Reflections on changing research practice

The Human Genome Project (HGP) was a landmark project, not just because of its scientific achievements, but also because it signified a change in the way that scientific practice was carried out. Before the HGP, sequencing was a cottage industry carried out in specialist labs. The considerable collaborative effort involved in sequencing the genome led to new ways of working on a scale that had not been experienced before in genomics. Advances in technology have accelerated this change and have led to new ways of working collaboratively and the sharing of data and samples through new governance structures. The HGP also signified a greater understanding and awareness of the relationship between science and society and the importance of addressing the ethical, legal and social implications (ELSI) of genomics research. As a result, under the leadership of James Watson, a percentage of the USA National Human Genome Research Institute (NHGRI) budget must now be devoted to research on the ELSI issues emerging from funded projects. I will reflect on these changes in scientific practice and discuss how past models have become the basis for new practice and current governance, as well as the way that ELSI research has become an integral part of the scientific agenda.

video of the talk


Coffee break


Bartha Maria Knoppers, McGill University, Montreal, CA

The Global Alliance: Making it possible?

At a time when personal data and privacy issues dominate the European landscape, when international, collaborative consortia seek to achieve statistical significance, the Global Alliance was announced in June 2013. Unprecedented in size and geographical diversity, it also breaks new ground in its promise to bring together genomic and medical data for the creation of genomic medicine. The challenges are obvious but not insurmountable between good faith partners who desire the eventual realization of translational medicine. Two socio-ethical and legal "hurdles" dominate the policy landscape: national access and ethics review requirements. Quo vadis?

video of the talk


Panel discussion


Conference dinner at the EMBL canteen


Friday, 8th November


Keynote talk

Human genomics a decade after the Human Genome Project: Opportunities and challenges

The Human Genome Project’s generation of a reference human genome sequence was a landmark scientific achievement of historic significance. It also signified a critical transition for the field of genomics, as the new foundation of genomic knowledge started to be used in powerful ways by researchers and clinicians to tackle increasingly complex problems in biomedicine. To exploit the opportunities provided by the human genome sequence and to ensure the productive growth of genomics as one of the most vital biomedical disciplines of the 21st century, the National Human Genome Research Institute (NHGRI) is pursuing a broad vision for genomics research beyond the Human Genome Project. This vision includes using genomic data, technologies, and insights to acquire a deeper understanding of genome function and biology as well as to uncover the genetic basis of human disease. Some of the most profound advances are being catalyzed by revolutionary new DNA sequencing technologies; these methods are producing prodigious amounts of DNA sequence data as part of studies aiming to elucidate the complexities of genome function and to unravel the genetic basis of rare and complex diseases. Together, these developments are ushering in the era of genomic medicine.

video of the talk

Eric D. Green, National Human Genome Research Institute, NIH, Bethesda, USA

Introduced by Matthias Hentze, Director, European Molecular Biology Laboratory, Heidelberg, DE

SESSION III – From sequence to diagnostics

Chaired by Christof von Kalle, German Cancer Research Center, Heidelberg, DE


Anne-Lise Børresen-Dale, University of Oslo, NO

Genomics in the diagnosis and treatment of breast cancer

Breast cancer is a complex disease caused by accumulation of genetic alterations that lead to a disturbed balance between cell proliferation and cell death, genetic instability, and acquisition of an invasive and resistant phenotype. Inherent heterogeneity contributes to each tumour’s phenotype and determines the molecular composition of the tumours. In order to better classify and manage breast cancer for a more personalized treatment, we need to better understand variation both between different tumours – classically recognized through different morphology types, expression subtypes, or classes of genomic copy number patterns – and variation within a single tumour. Results from deep sequencing of whole breast cancer genomes are emerging, giving us insight into both types of variation.  Moreover, it has been shown that mutations evolve across the lifespan of a tumour, contributing to extensive genetic variation.
By integrating data from the patient’s own genotype with data from the primary tumours as well as the metastases, we seek to reach a more fundamental understanding of the biological dynamics of breast cancer. High-throughput molecular data at DNA, messenger RNA, microRNA, protein and metabolic levels have become available on increasing numbers of patients, and various molecular profiles have been associated with tumour aggressiveness, response to therapy and patient outcome. However, lack of overlap of profiles from different studies has raised the question of their validity. Creating datasets combining profiles at various levels, and analyses of the data in a compendium rather than in isolation may lead to more reliable indicators that can be used for more specific diagnosis and treatment of breast cancer patients at the individual level.

video of the talk


Coffee break


Wolfram Henn, Saarland University, Homburg/Saar, DE

Large-scale sequencing of the fetal genome: Is there a duty not to know?

In most fields of medicine, informational self-determination of patients means unlimited access to one's own medical data. In medical genetics, this "right to know" has been complemented by the "right not to know", as predictive and prenatal diagnosis may provide medical information that is technically accessible but nevertheless unwelcome to the patient. However, until recently, the technical limitation of individual genetic analysis to mutations in very few single genes by and large prevented patients and doctors from being confronted with completely unexpected or medically irrelevant findings. The advent of large-scale genome analysis, beyond individually motivated testing for specific genes, is now about to fundamentally change the whole field, delivering answers to questions not even asked. As to prenatal diagnosis, the recently developed non-invasive fetal whole-genome analysis will soon enable parents and doctors to learn about an unborn child's genetic properties way beyond what is important for the parents' decision whether or not to terminate the pregnancy due to a severe disease. In fact, many decision-irrelevant data may be produced, such as dominant traits for late-manifesting disease, or recessive traits important only for the second generation to follow. For a person after birth, these data unequivocally would be subject to the right not to know. Consequently, we are facing a delicate ethical and legal problem: An unborn person's right not to know must be protected against the parents' curiosity. This can only be achieved by a "duty not to know" which requires mandatory non-disclosure of certain types of prenatally accessible genetic information to the parents. This unprecedented challenge urgently calls for a reasonable ethical and legal framework, in particular, a transparent hierarchical classification of prenatal genetic information, in order to balance the parents' right to learn about decision-relevant features with the unborn child's future informational self-determination.

video of the talk


Estée Török, University of Cambridge, UK

Use of whole-genome sequencing in diagnostic and public health microbiology

The ability to perform rapid, high-throughput whole-genome sequencing in the lab represents a step-change in capabilities for diagnostic and public health microbiology. As the cost of sequencing continues to decline, the challenge will be to define when and where to apply this technology. This presentation will review the potential applications of bacterial whole genome sequencing in clinical and public health microbiology, with reference to some recent examples from our hospital. I will also highlight some of the current challenges to implementing this technology into routine clinical care.

video of the talk


Lunch in ATC foyer

SESSION IV – Chances and challenges

Chaired by Jane Kaye, University of Oxford, UK


Buddug Cope, Genetic Alliance UK, London, UK

Personalized medicine and patient empowerment

In her talk Buddug will speak mainly from the perspective of patients and families living with a genetic disease. She will illustrate patients' perceptions, roles and experiences both as users of health care services and as participants in genetic research. Patient empowerment is one of the key features of personalized medicine, and this talk will focus on its implications for patients' and their families.

video of the talk


Timothy Caulfield, University of Alberta, Edmonton, CA

Direct-To-Consumer genetic testing and personalized health: Assessing the risks and benefits

Much has been made about the potential to use genomic information to personalize treatment and prevention.  While the area has great promise, the limitations of the field, particularly in the context of public health and the preventions of common chronic diseases, are often underplayed.  Indeed, while the popular press continues to refer to the personalized medicine as a “revolutionary” approach, significant scientific and translation challenges remain. This rhetoric is, of course, amplified in the promotional material associated with direct-to-consumer (DTC) testing companies. The reality of the limited health value of genomic information at least for common diseases, has implications for the potential for personalized approaches to the improvement of population health. Paradoxically, the nature and severity of the related legal, ethical and social issues (ELSI) that were initially thought to be the main obstacle to the uses of these technologies, may now be changed or mitigated. In this presentation, I will outline some of the key limitations associated with personalized medicine, particularly as they relate to the promises made by DTC companies.  We will see that this provides an opportunity to critique the concept of personalized genetics more broadly and to reexamine a number of the key ELSI concerns, including the idea that genetic information is uniquely sensitive and, as such, worthy of stringent regulatory oversight.

video of the talk


Coffee break


Helena Kääriäinen, National Institute for Health and Welfare, Helsinki, FI

Genetic counselling: New approaches needed

In international guidelines, ideal genetic counselling consists of an appropriately trained professional, objective information, psychological support, confidentiality, autonomous decision-making, and dealing with the familial implications. The starting point is a patient with or at risk of a rare genetic disease where a gene test gives a definitive diagnosis or defines a clear-cut risk. Advances in genetics and especially in the technology are changing this landscape. Molecular karyotyping and next generation sequencing have revolutionized the use of genetic testing and the price of it. It is now (nearly) possible, in the field of rare diseases, to move from tests for a phenotype to genome-wide testing which may result in increased amount and complexity of results, many of them unrelated to the initial clinical question. It is also possible (to some extent) to estimate the risk to common diseases and, again, maybe get unexpected results. These tests are also offered directly to consumers. Thus genome-wide testing has clear consequences in organization and implementation of genetic counselling. At the same time, patients have become more active in the use of health information and services. Also, the consumerist approach in healthcare has increased. Patients are regarded more often as clients who want care tailored to their personal needs rather than "patients" in the traditional sense. They may want a genetic test but feel that no counselling is needed, or they may need much support and help in decision-making and coping with a genetic risk/condition. The different clinical situations and personal expectations need to be taken into account when creating new recommendations, searching for new methods for genetic counselling, and when dividing the work between genetics clinics and other health care professionals.

video of the talk





Panel presentation

Ernst Hafen, ETH Zurich, CH

Genome meets iPhone - The future of personal health data

Personalized or precision medicine depends on the availability of large amounts of longitudinal medical and health data from individuals. While technological revolutions in genome sequencing and in mobile health monitoring allow the generation of these data, inaccessible data silos and data protection laws pose severe obstacles that present day healthcare systems have largely failed to remove. Furthermore, since personal data are viewed as a new asset class, commercial entities (i.e. Google, Facebook, 23andMe, patientslikeme) compete to generate value from these personal data. We posit that empowering citizens, the primary beneficiaries of the healthcare system, by providing them with a platform to store, manage and share all their health-related data will be a necessary element in a transformation towards precision medicine. Such a health data platform should be organized as a cooperative that is solely owned and controlled by its members and not by shareholders. Each member determines which data he/she wants to share with doctors or which data should contribute to research for the benefit of health of society and the individual. Members will also decide how the revenues generated by granting third parties access to the anonymized data shared by the members should be invested in research, information or education. In such a system, the citizens would be in charge of their health data and the health-related and financial benefits that aggregation of these data brings.

video of the talk


Panel discussion, chaired by Ernst Hafen, ETH Zurich, CH




Closing remarks

Maria Leptin, Director, EMBO, Heidelberg, DE

Sandra Bendiscioli, EMBO, Heidelberg, DE