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European Science Foundation position paper
1. ESF Position Paper • May 2011
European Biobanks
and sample repositories –
relevance to Personalised
Medicine
Contents
2 • Foreword 6 • Cohorts as a prospective tool for
3 • Executive summary understanding individual variation
4 • Introduction 6 • Europe as a driving force for the development
4 • Why Personalised Medicine? of personalised medicine
5 • European biobanks are vital assets for 7 • Measures to reach the goal
the delivery of personalised medicine
3. Executive summary Europe currently boasts some of the most valuable
population and patient cohorts, as well as some of the
Europe 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 require
valuable 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 both
European 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 migrant
Consequently, 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. 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 of
an unprecedented opportunity to understand the fac- patients with shared characteristics after completion of
tors 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-up
disease 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 findings
our 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 technology
ised medicine. The importance of this shift from a global that allows individual patient features to be described in
to an individualised approach to healthcare has been detail. Harnessing the power of these approaches thus
clearly recognised by European and global stakeholders provides an opportunity to move beyond an emphasis on
and will receive significant attention in discussions lead- the average patient and towards individualised assessment
ing to the definition of a new strategic EU Framework of treatment strategies. Incorporating such information
Programme. 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 biomedical
Medicine for the European Citizen fully support this research has made it possible to describe in more detail
development. 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 genome
of personalised medicine in which Europe can capitalise paved the way for large-scale genomics studies, and since
on existing strengths over the coming years given appro- then a host of –omics approaches have begun to describe
priately 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), their
Why Personalised Medicine? metabolic profile (metabolomics), and the composition
of their bacterial flora (metagenomics). Understanding
Delivery 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 bioinformatics
an increased demand for quality. In addition, the burden tools is the key feature of this new personalised strategy
of 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 studies
brought about by an ageing population and the effects of required for the development of personalised medicine
migration, 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 shared
Biomedical research must therefore succeed not only characteristics, such as gender, age, the environments they
in identifying solutions to these problems but also in grew up in, etc.), clinical history and biological sample
ensuring that they are rapidly implemented in the most collections. Combinations of these data and materials
appropriate contexts. are often referred to as biobanks. The combination of
Evidence-based medicine, which lies at the heart of carefully characterised biological samples and detailed
current western approaches to healthcare, relies mainly clinically relevant information provided by biobanks
on the statistical interpretation of data from large clini- makes them a valuable additional component of a research
cal 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 force
general failure to take into account more than a few per- for the development of personalised medicine in the 21st
sonalised 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 in
studies, irrespective of a patient’s individual character- the future. As a result of the significant efforts of the
4 European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011
5. European Commission to support ongoing initiatives such European biobanks are vital
as the European Research Infrastructure Consortium
(ERIC) and the European Strategy Forum on Research
assets for the delivery
Infrastructures (ESFRI), Europe now leads the way in of personalised medicine
establishing 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. Cohorts as a prospective tool Genetics, including pharmacogenetic/genomic
approaches, is only one way of understanding individual
for understanding individual variation in disease, however. Priority areas for research
variation 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 order
and environmental factors. Most importantly, cohorts to ensure that the results of these studies have the greatest
allow 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 changes
against 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 to
why some people develop a particular disease or fail to be understood and the factors that must be assessed in
respond 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 have
years have seen a surge in genome sequencing, including been developed as a result of previous European research
the 1000 genomes project (www.1000genomes.org), and investment, we can ensure that Europe continues to play
genome-wide association studies (GWAS), the latter of a leading global role in the establishment of personalised
which have led to the identification of robust associations medicine. Adequate investment in European cohorts is
for 1888 single nucleotide polymorphisms in 210 different not only a prerequisite for making personalised medicine
diseases and other heritable traits (www.genome.gov/ a reality, however. By fostering a deeper understanding of
gwastudies). 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-economic
they 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 and
planned 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 prioritised
6 European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011
7. within the EU. EHRs greatly facilitate the maintenance and
updating of data on large population cohorts, including Priority Areas for Personalised
from clinical trials, and substantially reduce the associated Medicine Within Europe
operating costs. In addition, EHRs provide an opportunity Resources for existing European cohorts
to introduce additional (including retrospective) data that • Expansion and follow-up of existing data sets
has been collected for other purposes. Information on • Augmentation of data on the biological
regional differences in other factors could thus facilitate characteristics of the general population and
the identification of the environmental determinants of specific groups
of human variation that may have relevance to health • Addition of multidisciplinary in phenotyping
and 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 data
personalised medicine in Europe. storage between cohorts
Establishment of new cohorts
Specifically, we propose • Address gaps in existing cohorts that would be
impossible to fill retrospectively
the following measures • Establish cohorts for emerging disease areas
to reach this goal • Initiate cohorts that reflect migrant
contributions to the European disease pattern
In the interest of maintaining clear European advan-
tages in personalised medicine, we recommend that the Resources for future studies
new framework programme (FP8) include special calls • Research on challenges posed by ageing
addressing the maintenance, sustainability, and further populations and changing healthcare
development (including information-technology solutions • Research on societal, regulatory, and ethical
and quality control) of European population-based and dimensions of large-scale databases and cohorts
clinical sample collections.
European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011 7
8. List of Contributors
Authors and iPM Forward Look iPM Management Committee ESF Standing Committees
Chairs • 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 Sciences
Expert 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
www.esf.org
ISBN: 978-2-918428-41-1
May 2011 – Print run: 500
8 European Biobanks and sample repositories – relevance to Personalised Medicine | May 2011
