European Science Foundation position paper


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European Science Foundation position paper

  1. 1. ESF Position Paper • May 2011European Biobanksand sample repositories –relevance to PersonalisedMedicineContents2 • Foreword 6 • Cohorts as a prospective tool for3 • Executive summary understanding individual variation4 • Introduction 6 • Europe as a driving force for the development4 • Why Personalised Medicine? of personalised medicine5 • European biobanks are vital assets for 7 • Measures to reach the goal the delivery of personalised medicine
  2. 2. ForewordNew and emerging technologies based on improvedmolecular profiling and a better understanding of factorsthat lead to or protect individuals from illness are currentlychallenging the existing structures for healthcare delivery.The transition from the long-established “one-size-fits-all” approach to a new healthcare strategy based onindividual genomic, proteomic and metabolomic profileslikely will provide an opportunity and a framework in whichour current healthcare structure may be transformed.The impact of these developments will likely reshape theway pharmaceutical industry develops and targets newdrugs, profoundly affect the available tools for healthcareprofessionals, and enable individualised prediction,prevention and treatment of illness. This emerging medicalfield and its underlying technologies have been integratedunder the term “Personalised Medicine”. In recognising the importance of Personalised Medicine,including in a broader sense how this may impact not onlythe existing systems for healthcare delivery but also in aglobal sense influence how society deals with health anddisease, the European Medical Research Councils (EMRC),in collaboration with ESF standing committees for Life, CoverEarth and Environmental Sciences (LESC), Physical and Human Chromosomes (Computer artwork)Engineering Sciences (PESC), Social Sciences (SCSS) and © Hybrid Medical Animation / SPL / Cosmosthe Humanities (SCH), have recently launched a ForwardLook, a foresight exercise on Personalised Medicine( The overall aim of this ESF ForwardLook is to analyse in a systematic way the complex andconstantly moving field of personalised medicine to providepolicy advice that will help prepare Europe for thesechanges. The present ESF Position Paper, which is authoredby the scientific chairs for the ESF Forward Look onPersonalised Medicine and supported by four ESF standingcommittees, is endorsed by 13 distinguished and leadingscientific experts. Rather than introducing the area ofPersonalised Medicine, the Position Paper focuses on theimportance of tissue sample collections and Europeancohorts as essential elements of particular Europeanstrength that may ensure a continued leading role forEurope in the area of Personalised Medicine.Professor ProfessorLiselotte Højgaard Marja MakarowEMRC Chair ESF Chief ExecutiveChair, Management Committeefor the Forward Lookon Personalised Medicine2 European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011
  3. 3. Executive summary Europe currently boasts some of the most valuable population and patient cohorts, as well as some of theEurope is a leading player in the establishment of a radical most extensive biobanks that are available worldwide. The reinterpretation of our approach to healthcare known as value of these tools, however, is rapidly lost if they are not personalised medicine. As a result of previous European adequately maintained. The methods used to collect data investment in research infrastructure, many of the most change over time, and new questions arise that requirevaluable tools employed to lay the foundations for this analysis of different patient or demographic groups. If the approach are located within Europe. Continued invest- maintenance and updating of study cohorts and biobanks ment will nevertheless be required to fully exploit this key is made a priority for future research spending at bothEuropean competitive advantage. In this position paper, European and national levels, Europe will maintain and the chairs of the scientific committee responsible for strengthen its current advantage. Furthermore, such the recently established ESF Forward Look Personalised investment is predicted to yield benefits beyond health-Medicine for the European Citizen (iPM) highlight care, including insights into policy-resistant problems those areas in which the new EU strategic Framework such as the co-occurrence of obesity and poverty.Programme (FP8) can play a key role in supporting these To capitalise upon prior investment and harness the developments. potential of existing European strengths in the field of The stratified approach to healthcare that underpins personalised medicine, we recommend that FP8 include personalised medicine is dependent upon obtaining a special calls to address the maintenance, sustainability and detailed description of individual biological variation further development of European cohorts and biobanks. in connection with environmental, societal, and life- Key areas for investment include the following: style factors that influence the development of disease.In order to achieve this, an enormous range of biologi- • Inclusion of data on biomarkers, imaging cal samples and patient-relevant data must be collected, studies, and other variables in existing cohorts catalogued, and stored in biobanks. Large numbers of • Harmonisation of data collection protocols individuals – sometimes up to hundreds of thousands • Long-term follow-up to take into account the– with shared characteristics (known as cohorts) must delayed effect of environmental factors be regularly monitored. This approach allows current • Targeted funding to address gaps in existing healthcare concerns to be addressed while simultaneously cohorts that cannot be filled retrospectively, pursuing future goals to manage and prevent disease. including the identification of new migrantConsequently, personalised medicine facilitates a more populations appropriate response to the changing healthcare needs • Research into societal, regulatory, and ethical of an aging, demographically fluid European population dimensions to ensure maximum societal gain and ensures maximum flexibility in the implementation from personalised medicine of cost-control measures. • Establishment of relevant facilities for biostatistics and bioinformatics European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011 3
  4. 4. Introduction istics, and treatment strategies are therefore not always effectively targeted. While these problems could in prin-Recent advances in biomedical research have generated ciple be addressed by analysing specific sub-groups ofan unprecedented opportunity to understand the fac- patients with shared characteristics after completion oftors underlying the development of disease in individual a clinical trial, this type of analysis is generally discour-patients. Identifying those elements that predict the indi- aged because it can produce misleading (false positive)vidual response to treatment and predispose a person to results. In addition, it necessitates the use of follow-updisease when exposed to the right combination of envi- studies of already time-consuming and costly clinical tri-ronmental triggers holds the key to a radical change in als, thereby slowing the translation of research findingsour approach to medicine through the stratification of into clinical practice.treatment and prevention. This is the basis of personal- Recent years have seen the emergence of technologyised medicine. The importance of this shift from a global that allows individual patient features to be described into an individualised approach to healthcare has been detail. Harnessing the power of these approaches thusclearly recognised by European and global stakeholders provides an opportunity to move beyond an emphasis onand will receive significant attention in discussions lead- the average patient and towards individualised assessmenting to the definition of a new strategic EU Framework of treatment strategies. Incorporating such informationProgramme. into clinical practice is the basis of personalised medi- The chairs of the scientific committee responsible for cine.the recently established ESF Forward Look Personalised So-called high-throughput technology in biomedicalMedicine for the European Citizen fully support this research has made it possible to describe in more detaildevelopment. The aim of the present ESF position paper the specific biological makeup of large numbers of indi-is therefore to highlight those areas of the developing field viduals. The ability to sequence a person’s entire genomeof personalised medicine in which Europe can capitalise paved the way for large-scale genomics studies, and sinceon existing strengths over the coming years given appro- then a host of –omics approaches have begun to describepriately focused investment. other elements such as the partly heritable characteristics that are not encoded in a person’s DNA (epigenomics), the expression patterns of their genes (transcriptomics), the range of proteins in their cells (proteomics), theirWhy Personalised Medicine? metabolic profile (metabolomics), and the composition of their bacterial flora (metagenomics). UnderstandingDelivery of healthcare in Europe is faced with the chal- the variation in these aspects of an individual’s biologi-lenge of controlling ever-growing costs while satisfying cal makeup through the use of advanced bioinformaticsan increased demand for quality. In addition, the burden tools is the key feature of this new personalised strategyof disease is continually evolving. The factors responsi- to understanding and treating disease.ble for this development include demographic changes Unlike the approach used in clinical trials, the studiesbrought about by an ageing population and the effects of required for the development of personalised medicinemigration, changes in environmental factors, including typically involve analysis of data from large popula-social and lifestyle factors, and also pathogen evolution. tion-based cohorts (groups of individuals with sharedBiomedical research must therefore succeed not only characteristics, such as gender, age, the environments theyin identifying solutions to these problems but also in grew up in, etc.), clinical history and biological sampleensuring that they are rapidly implemented in the most collections. Combinations of these data and materialsappropriate contexts. are often referred to as biobanks. The combination of Evidence-based medicine, which lies at the heart of carefully characterised biological samples and detailedcurrent western approaches to healthcare, relies mainly clinically relevant information provided by biobankson the statistical interpretation of data from large clini- makes them a valuable additional component of a researchcal trials. Although this is a well-tested strategy that will infrastructure that facilitates a more detailed classifi-continue to inform medical practice, it is limited by a cation of disease subtypes and acts as a driving forcegeneral failure to take into account more than a few per- for the development of personalised medicine in the 21stsonalised indicators such as weight and age. Therapeutic century. Hence, current goals may be addressed along-decisions are currently based on average values from large side ongoing efforts to manage and prevent disease instudies, irrespective of a patient’s individual character- the future. As a result of the significant efforts of the4 European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011
  5. 5. European Commission to support ongoing initiatives such European biobanks are vitalas the European Research Infrastructure Consortium(ERIC) and the European Strategy Forum on Research assets for the deliveryInfrastructures (ESFRI), Europe now leads the way in of personalised medicineestablishing the foundations of research into personal-ised medicine. In order to understand the factors underlying individual variability in biological makeup in the context of social and lifestyle (environmental) differences, data need to Building on Existing Strengths be analysed from as many as hundreds of thousands Europe’s privileged position in establishing the foun- of study participants. While costly, the collection and dations for personalised medicine is dependent upon maintenance of samples and data from study cohorts is the quality of the population-based cohorts and clini- therefore crucially important to the success of research cal sample collections it has developed. Effective into personalised medicine. A key return on such invest- utilisation of these unique resources will make it ment, however, is the capacity to make continued use possible to monitor trends in population health and of existing resources and streamline the translation of assess the impact of healthcare policy. In addition, research findings into clinical practice. they will act as an ongoing discovery platform that The value of a population or patient cohort decreases can be continually adapted to the changing health- rapidly if the collection is not maintained and updated care environment. or if follow-up of study participants is not organised. The Research funders in other regions, such as the US, relevance and sustainability of a cohort for use in clinical have recognised the importance of cohorts for dis- research is defined by the type and quality of its biological ease research and diagnostics. If European medical samples, the amount of patient-relevant information it research is to capitalise on its current leading posi- contains and the ability to cross-reference that informa- tion in personalised medicine, it is vital that existing tion. The methods used to record phenotypes, diagnostic cohorts in Europe receive adequate resources to be criteria, and environmental features change over time, maintained at the highest level and expanded where however. Furthermore, as knowledge advances, new necessary. questions arise that require analysis of different groups Key areas for investment: of patients or demographic populations, some of which • Inclusion of data on biomarkers, imaging may not be covered by existing cohorts. Ongoing efforts to studies, etc. in existing cohorts update and improve phenotypic and environmental data- • Harmonisation of data collection protocols sets are therefore essential in order to facilitate the cutting • Long-term follow-up to take into account the edge research that will drive personalised medicine. delayed effect of environmental factors As a result of previous European research investment • Targeted funding to address gaps in existing and the particular organisation of healthcare within cohorts that cannot be filled retrospectively, Europe, many of the world’s most valuable patient and including the identification of new immigrant population cohorts are located in European countries. This populations places Europe in a unique forefront position, with a par- • Support for relevant facilities for biostatistics ticular responsibility to make use of these opportunities and bioinformatics and lead the way in developing the clinical research that • Integrate research on societal and ethical will serve as the foundation for a revolution in personal- perspectives ised medicine. If the maintenance and expansion of these cohorts is made a priority for future research spending at both European and national levels, Europe will maintain and strengthen its current advantage and capitalise on previous investments. In turn, this will improve health- care globally.European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011 5
  6. 6. Cohorts as a prospective tool Genetics, including pharmacogenetic/genomic approaches, is only one way of understanding individualfor understanding individual variation in disease, however. Priority areas for researchvariation into personalised medicine include the analysis of data on life events and environmental factors in relation to,The use of cohorts allows ongoing analysis of the develop- among others, epigenomic, transcriptomic, proteomic,ment of disease according to combinations of intrinsic metabolomic and metagenomic characteristics. In orderand environmental factors. Most importantly, cohorts to ensure that the results of these studies have the greatestallow a prospective approach to be taken in which the impact and clinical relevance, the data must be well char-development of disease (and its corollary, protection acterised and continually updated to account for changesagainst that same disease) can be analysed over time in demographics and advances in knowledge. For instance,in well-characterised populations. This sort of in-depth Europe’s population is ageing and at the same time under-analysis of individual biological makeup in the context going additional demographic change due to migration.of environmental (including lifestyle and other social) At the same time, epigenetic and environmental influ-factors is central to achieving a clearer understanding of ences on disease susceptibility are only just beginning towhy some people develop a particular disease or fail to be understood and the factors that must be assessed inrespond to a given treatment. cohort studies are changing rapidly. By ensuring adequate Genetics is understood to be a key factor determining support for the maintenance, updating and harmonisa-individual variation in susceptibility to disease. Recent tion of methods between the powerful cohorts that haveyears have seen a surge in genome sequencing, including been developed as a result of previous European researchthe 1000 genomes project (, and investment, we can ensure that Europe continues to playgenome-wide association studies (GWAS), the latter of a leading global role in the establishment of personalisedwhich have led to the identification of robust associations medicine. Adequate investment in European cohorts isfor 1888 single nucleotide polymorphisms in 210 different not only a prerequisite for making personalised medicinediseases and other heritable traits ( a reality, however. By fostering a deeper understanding ofgwastudies). Although these associations explain only a the complex interactions between social, environmental,fraction of the genetic contribution of common diseases, and (epi)genetic factors and health and socio-economicthey have already yielded a large number of targets for outcomes, benefits would be obtained beyond healthcare,use in functional studies. Importantly, the vast majority extending to policy-resistant problems such as the co-of these findings have involved the use of European study occurrence of obesity and poverty.samples. In fact, large European sample collections prob-ably account for the largest proportion of ongoing andplanned cohort-based studies worldwide. Europe as a driving force Ethical, Legal and Social Issues (ELSI) for the development ELSI research is a core element of ensuring that the of personalised medicine benefits of large-scale biomedical research will reach patients in a socially and ethically robust manner. Europe has a number of crucial advantages in developing The sooner such issues are addressed, the greater and implementing personalised medicine. First, access to the societal gain. For instance, although some of healthcare is not dependent on private insurance, which the most significant scientific insights in personal- means that the translation of new scientific discoveries ised medicine may be achieved through the use of into clinical applications in Europe regularly faces fewer lifelong cohorts starting at birth, important ques- practical obstacles than in other parts of the world. This tions still need to be addressed on issues such as the provides opportunities for new drugs and treatments collection and storage of genetic information from benefiting patients faster. Secondly, the European Union children. While taking into account the objective of provides an ideal framework for harmonisation that facili- cost containment in a new framework programme, tates implementation of general best practices based on substantial provision must be made for ELSI research shared European values. Thirdly, several EU member states in personalised medicine. have already begun to implement electronic health records (EHRs), an area that has also been identified and prioritised6 European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011
  7. 7. within the EU. EHRs greatly facilitate the maintenance andupdating of data on large population cohorts, including Priority Areas for Personalisedfrom clinical trials, and substantially reduce the associated Medicine Within Europeoperating costs. In addition, EHRs provide an opportunity Resources for existing European cohortsto introduce additional (including retrospective) data that • Expansion and follow-up of existing data setshas been collected for other purposes. Information on • Augmentation of data on the biologicalregional differences in other factors could thus facilitate characteristics of the general population andthe identification of the environmental determinants of specific groupsof human variation that may have relevance to health • Addition of multidisciplinary in phenotypingand disease. By fully utilising these unique strengths, the (imaging, biomarkers, etc.)greatest benefits can be gained from the establishment of • Harmonisation of data collection and datapersonalised medicine in Europe. storage between cohorts Establishment of new cohortsSpecifically, we propose • Address gaps in existing cohorts that would be impossible to fill retrospectivelythe following measures • Establish cohorts for emerging disease areasto reach this goal • Initiate cohorts that reflect migrant contributions to the European disease patternIn the interest of maintaining clear European advan-tages in personalised medicine, we recommend that the Resources for future studiesnew framework programme (FP8) include special calls • Research on challenges posed by ageingaddressing the maintenance, sustainability, and further populations and changing healthcaredevelopment (including information-technology solutions • Research on societal, regulatory, and ethicaland quality control) of European population-based and dimensions of large-scale databases and cohortsclinical sample collections.European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011 7
  8. 8. List of ContributorsAuthors and iPM Forward Look iPM Management Committee ESF Standing CommitteesChairs • Jukka Corander, • European Medical Research Councils• Stephen T. Holgate, Representative of the Standing (EMRC) Southampton General Hospital, Committee for Physical and Engineering • Standing Committee for Life, Earth Southampton (UK) Sciences (PESC) and Environmental Sciences (LESC)• Aarno Palotie, • Jacques Grassi, • Standing Committee for Physical Wellcome Trust Sanger Institute, Institut National de la Santé et de la and Engineering Sciences (PESC) Cambridge (UK) Recherche Médicale (Inserm) • Standing Committee for Social Institute of Molecular Medicine, • Liselotte Højgaard, Sciences (SCSS) Helsinki (FI) Chair of the European Medical• Barbara Prainsack, Research Councils (EMRC) King’s College London, Centre • Rainer Kattel, ESF Office for Biomedicine & Society (CBAS), Member of the Standing Committee • Stephane Berghmans, London (UK) for Social Sciences (SCSS) Head of Unit, Medical Sciences • Heyo Kroemer, • Lars Kristiansen, Deutsche Forschungsgemeinschaft Science Officer, Medical SciencesExpert Scientists (DFG)• Pascal Demoly, • Marja Makarow, Additional support University Hospital Montpellier, Chief Executive of the European INSERM, Montpellier (FR) • Iain Patten Science Foundation (ESF)• Paolo Gasparini, Science writer, Valencia (ES) • Francesc Palau, IRCCS-Burlo Garofolo, University Spanish Ministry for Science of Trieste (IT) and Innovation (MICINN)• Leif Groop, • Michel Salzet, Lund University Diabetes Centre, Member of the Standing Committee Lund (SE) for Life, Earth and Environmental• David Gurwitz, Sciences (LESC) National Laboratory for the Genetics • Milena Zic-Fuchs, of Israeli Populations, Tel Aviv (IL) Chair of the Standing Committee• Ian Hall, for the Humanities (SCH) Division of Therapeutics, University of Nottingham (UK)• Jaakko Kaprio, Department of Public Health, University of Helsinki (FI)• Mark McCarthy, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford (UK)• Andres Metspalu, Estonian Biobank, Tartu (EE)• Dirkje Postma, Department of Pulmonary Medicine and Tuberculosis, University Medical Centre Groningen (NL)• Timothy Spector, Department of Twin Research, Kings College, London (UK)• Cornelia van Duijn, The European Science Foundation (ESF) was Department of Epidemiology, University established in 1974 to provide a common Medical Center, Rotterdam (NL) platform for its Member Organisations to• Gert-Jan van Ommen, advance European Research collaboration and explore new directions for research. It is an Centre for Medical Systems Biology independent organisation, owned by 78 Member and Centre for Human and Clinical Organisations, which are research funding Genetics, Leiden (NL) organisations, academies and learned societies from 30 countries. ESF promotes collaboration• Erich Wichmann, in research itself, in funding of research and in Deutsche Forschungszentrum science policy activities at the European level. für Gesundheit und Umwelt, European Science Foundation Helmholtz Zentrum München (DE) 1 quai Lezay-Marnésia • BP 90015 67080 Strasbourg cedex • France Tel: +33 (0)3 88 76 71 00 Fax: +33 (0)3 88 37 05 32 ISBN: 978-2-918428-41-1 May 2011 – Print run: 5008 European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011