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Genomic Databases and International Collaboration



Recent years have witnessed a key development within biomedicine—namely, the move from genetic to genomic research. Genomic research, which operates at the level of the whole genome rather than individual genes, requires a powerful new set of research tools, resources and supporting technologies. Having moved from DNA sequence mapping to the use of haplotypes, the next advances in our understanding of disease risk and health may well be achieved through the study of “normal” genomic variation across whole populations. Such studies require not only samples and data, but also highly sophisticated, substantial database infrastructures to support them. Longitudinal and largely epidemiological in nature, these population-scale genomic database resources are designed to serve a multiplicity of specific research projects at both national and international levels. Current ethical guidance in the area of genetic research promotes the need for international collaboration. Yet, is international genomic research collaboration possible considering both the scientific and structural differences between national approaches to governing genomic databases and associated population biobanks? A review of existing norms at the international level—in particular, around benefit sharing and access to data—and their application in different countries, reveals areas of both convergence and divergence. But, most of all, it reveals the need for international harmonisation in order to secure interoperability and the public participation, trust and investment in such large initiatives that are crucial to their success.
Genomic Databases and International Collaboration
Bartha Maria Knoppers, Ma’n H Abdul-Rahman and Karine Bédard*
Recent years have witnessed a key development within biomedicine—namely, the move from
genetic to genomic research. Genomic research, which operates at the level of the whole genome
rather than individual genes, requires a powerful new set of research tools, resources and
supporting technologies. Having moved from DNA sequence mapping to the use of haplotypes,
the next advances in our understanding of disease risk and health may well be achieved
through the study of ‘normal’ genomic variation across whole populations. Such studies require
not only samples and data, but also highly sophisticated, substantial database infrastructures
to support them. Longitudinal and largely epidemiological in nature, these population-scale
genomic database resources are designed to serve a multiplicity of specific research projects at
both national and international levels. Current ethical guidance in the area of genetic research
promotes the need for international collaboration. Yet, is international genomic research
collaboration possible considering both the scientific and structural differences between
national approaches to governing genomic databases and associated population biobanks? A
review of existing norms at the international level—particularly with regard to benefit sharing
and access to data—and their application in different countries, reveals areas of both
convergence and divergence. But, most of all, it reveals the need for international
harmonisation in order to secure interoperability and the public participation, trust and
investment in such large initiatives that are crucial to their success.
Recent years have witnessed a key development within biomedicine—namely, the move
from genetic to genomic research. Traditionally, genetic researchers studying inherited
* Bartha Maria Knoppers is Professor of Law, Faculté de Droit, and Canada Research Chair in Law and
Medicine, Centre de Recherche en Droit Public (CRDP), Université de Montréal. Ma’n H Abdul-Rahman
is a Research Assistant, and Karine Bédard a former Research Associate, at CRDP, Université de Montréal.
Funds for the preparation of this article were obtained from the EU-funded PHOEBE project (Promoting
Harmonization of Epidemiological Biobanks in Europe) and the Genomics and Public Health (GPH):
Building Public ‘Goods’? Project (Genome Canada and Génome Québec). We would like to thank Dr Jane
Kaye and Dr Sue Gibbons for their comments on this paper, and Dr Sue Gibbons in particular for her
excellent editorial skills.
(2007) 18 KLJ 291–312
disorders used a range of established tools and techniques, such as DNA sequence
mapping, to identify and examine the genes thought to be implicated.1But while such
tools and techniques have been pivotal for unlocking the secrets of monogenic diseases,
the vast majority of the human disease burden results from common complex, multi-
factorial disorders. These include cardiovascular diseases, diabetes and many cancers.
Scientists generally believe that such common diseases result from complex interactions
among three major elements: genetic variation, individual lifestyle behaviours, and
environmental factors.
There is growing recognition amongst scientists that, in order fully to understand the
complexities of the common disease risk and human health, it is necessary for studies of
‘normal’ genomic variation to be carried out across whole populations.2Rather than
investigating single genes using traditional techniques, these studies must operate at the
level of the whole genome (all of an individual’s genes taken collectively). Moving up to
the genomic level is necessary to facilitate systematic investigation into the complex
patterns of multi-factorial interaction. Such studies therefore require a powerful new set
of research tools, resources and supporting technologies. Over recent years, much progress
has been made in mapping ‘normal’ similarities and differences within the human
genome. Scientists have used genetic markers, such as single nucleotide polymorphisms
(SNPs) and haplotypes (groups of SNPs that are commonly inherited together), to
identify potentially significant genetic variations across whole genomes. This has enabled
them to begin to investigate the associations between SNPs, haplotypes and the incidence
of disease.
Having already progressed from DNA sequence mapping to the use of SNPs and
haplotypes, the next advances in our understanding of disease risk and health may well
be achieved through the study of ‘normal’ genomic variation across whole populations.
But such studies require extremely large collections of biosamples and data to enable and
support both longitudinal and epidemiological studies. Moreover, they require not only
biosamples and data (including relevant medical history, genealogical, lifestyle and
environmental information about participants), but also highly sophisticated, substantial
database infrastructures to support them. Over the last decade, there has been
considerable investment in what are often termed ‘population biobanks’,3as well as in
large collaborative projects, and in the adding of genotypic data to well-established cohort
1For a succinct account of the move from genetic to genomic research see Susan MC Gibbons et al, ‘Governing
Genetic Databases: Challenges Facing Research Regulation and Practice’ (2007) 34 Journal of Law and Society
163, 165–7.
2Muin J Khoury, ‘The Case for a Global Human Genome Epidemiology Initiative’ (2004) 36(10) Nature
Genetics 1027.
3See, eg, Anne Cambon-Thomsen et al, ‘An Empirical Survey on Biobanking of Human Genetic Material
and Data in Six EU Countries’ in Bartha M Knoppers (ed), Populations and Genetics: Legal and Socio-Ethical
Perspectives (Martinus Nijhoff, Leiden 2003) 141; Nicole Palmour, A Survey of the Variability of DNA Banks
Worldwide’ in Knoppers, ibid, 123.
292 King’s Law Journal
studies.4The development of such resources is a slow and painstaking process. It involves
long-term commitment and substantial investments of time, money and expertise. No
one study or resource will have the necessary size—and, therefore, statistical power—
fully to address all of the complexities of the common disease risk by itself. Even if such
a study ever were to exist, the results would not be realised for many years.
One solution to the problem of achieving the requisite scale of research materials
needed for such initiatives is to establish frameworks, standards and norms by which
existing or new database resources can be networked together. Ideally, such frameworks,
standards and norms would enable datasets to be networked—and data and, where
necessary, biosamples, to be transferred or shared—at both the national and international
levels. Interoperability and international collaborative access to, and use of, the genomic
data so created will be essential to the goal of achieving the rapid translation of research
results into clinical knowledge and new therapies.
However, a major obstacle to achieving interoperability, international collaboration
and database networking is the fact that few socio-ethical or legal norms exist at a global
level to guide these endeavours. Moreover, there are many differences in the legal
requirements that apply at the national level, which also militate against networking.
Another factor against networking is the fact that there are significant differences in the
way that scientific studies are designed, organised, regulated and carried out, even within
individual countries. The purpose of this paper is to review the international and national
frameworks that have been developed to date, to establish if, and how, those frameworks
might be applied to facilitate the networking of population biobanks. Section B begins by
mapping out the current international framework, such as it is, relevant to genomic
research and population biobanks. It outlines the principal bodies and documents
(international, regional and national), and considers their respective status, authority,
scope, binding nature and enforceability. Section C examines the potential application
of international norms, by focusing on two issues that are crucial to international
collaboration: benefit sharing and determining access to genomic databases. Finally,
section D discusses key roadblocks to interoperability, and identifies and assesses various
current initiatives aimed at promoting international collaboration.
Most of the legally binding laws and regulatory bodies that exist for governing genomic
research, population biobanks and genetic databases operate at the national level. As such,
they do not possess any supra-national status, authority or enforceability. However, over
4In the UK, see, eg, the Avon Longitudinal Study of Parents and Children (also known as the ‘Children of the
90s’ study and ALSPAC):
Genomic Databases and International Collaboration 293
the last 10 years, an increasing number of international bodies have developed relevant
guidelines or statements of principle. Broadly speaking, those bodies can be grouped into
four different types. There are: (1) bodies that are representative of all countries, such as
the United Nations and its specialised agency UNESCO;5(2) the Council of Europe, a
regional body that represents countries within Europe as well as other countries that are
prepared to sign up to its conventions;6(3) international scientific organisations, notably
the Human Genome Organisation (HUGO);7and (4) bodies that represent the
industrialised nations, such as the OECD.8
Yet, none of these bodies (or, indeed, any other) has been specifically instituted to
regulate or oversee population biobanks. Accordingly, no single actor at the international
level possesses a clear mandate or authority to formulate or promulgate a global consensus
position regarding population biobanking norms and standards, or to oversee the
governance of large-scale, international collaborative genomic research. As well as there
being no international body responsible for biobanking activities, no legally binding,
international legal instrument applies specifically to biobanks either. Instead, what we
currently have are multiple bodies, issuing various different kinds of documents, many of
which do not concern biobanking specifically but merely address related or more general
principles or activities, whose status, authority, content, definitions and enforceability
mechanisms all differ. In sum, this leaves us with a piecemeal and incomplete
international framework.
Turning to consider the four categories of international bodies, and looking first at
UNESCO, its Universal Declaration on the Human Genome and Human Rights9of 1997
is one of several international instruments adopted over the past decade relating to the
issues surrounding genetic testing and research. Prospective in nature, it outlines the basic
ethical principles for the proper conduct of human genome research generally. Thus, it
does not address biobanking specifically. Furthermore, while endorsed by the UN,10 the
Declaration is not legally binding. Indeed, in the case of both UNESCO and the Council
of Europe, the declarations, conventions and treaties that they produce can only take
effect once they have been signed and then implemented into national law by each
country. As is well known, in order to become legally binding, international instruments
such as treaties and conventions must be ratified by the countries that participate in their
formulation, observance and enforcement. Consequently, the coverage and acceptance
of the principles set out in the relevant documents produced by UNESCO and the
5United Nations Economic, Social and Cultural Organisation:
8Organisation for Economic Co-operation and Development:
9UNESCO, Universal Declaration on the Human Genome and Human Rights (adopted 11 November 1997).
Available at
10 UN GA/RES/53/152 of 9 December 1998.
294 King’s Law Journal
Council of Europe are somewhat piecemeal. They cannot be considered to provide a
comprehensive regulatory system. Having said this, while, strictly speaking, UNESCO’s
Universal Declaration on the Human Genome and Human Rights is merely hortatory
and proclamatory in nature, as Francioni has observed, it reflects11
… emerging principles of international law which, though expressed in the soft-law form of
the Declaration, are designed to model the evolution of customary law and to eventually harden
into more detailed and exacting standards. In any event, it is difficult to deny that the
Declaration has already affected the opinio iuris of the international community.
Such influence is perhaps unsurprising given UNESCO’s comparatively high profile
among the four types of international actors. As a body embracing over 190 countries,
statements and principles endorsed by the UN may be expected to attract serious
international attention. In 2003, UNESCO provided more specific guidance in its
International Declaration on Human Genetic Data.12 Again, however, this non-binding
declaration does not cover genomic databases per se; nor does it address the particular
issues associated with population biobanks.
Turning to the Council of Europe, its Recommendation on Research on Biological
Materials of Human Origin of 200613 was the first supra-national document to address
population biobanks and associated data specifically. However, because it is merely a
recommendation, it cannot acquire binding force. Moreover, it is a regional instrument
only—reflecting the Council of Europe’s limited status and authority as a regional
organisation. In 1997, the Council of Europe adopted the Convention on Human Rights
and Biomedicine.14 That Convention (together with its Additional Protocol) covers the
broader perspectives of the human rights implications of the applications of biology and
medicine. As with Council of Europe conventions generally, countries that become
signatories to the Convention must ratify it by introducing implementing legislation to
bring their national laws into conformity with its principles. Thus, it can take on a binding
and enforceable effect, at least at the national level within a particular group of States.
However, several Member States (including the UK) have not signed up to the
Convention; in part, due to its restrictions over stem cell research. This illustrates another
11 Francesco Francioni, ‘Genetic Resources, Biotechnology and Human Rights: The International Legal
Framework’ (European University Institute Working Papers, EUI LAW No 2006/17) 8. Available at
12 UNESCO, International Declaration on Human Genetic Data (adopted 16 October 2003). Available at
13 Council of Europe, Recommendation Rec(2006)4 of the Committee of Ministers to Member States on
Research on Biological Materials of Human Origin (adopted 15 March 2006). Available at https://wcd.coe.
14 Council of Europe, Convention for the Protection of Human Rights and Dignity of the Human Being with
regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine (Oviedo,
4 April 1997, ETS 164).
Genomic Databases and International Collaboration 295
of the shortcomings we face when trying to rely on international instruments that cover
a range of different areas to govern specific enterprises such as genetic and genomic
databases—namely, the risk that disagreement over one unrelated aspect or set of
provisions will lead to a rejection of the document as a whole.
The Council of Europe’s Recommendation on Research on Biological Materials of
Human Origin is a good illustration of another key problem that can result from having
multiple bodies issuing partially overlapping documents in an unco-ordinated fashion:
the problem of inconsistency or contradiction. As noted above, in the context of research
involving whole populations, the databases created are often referred to as ‘population
biobanks’. Yet, this terminology is by no means universally settled. As well as using
inconsistent terminology, current international documents also define population
databases in quite different ways. For example, the Council of Europe’s Recommendation
defines ‘population biobanks’ as being collections of biological materials having the
following characteristics:15
i. the collection has a population basis;
ii. it is established, or has been converted, to supply biological materials or data derived
therefrom for multiple future research projects;
iii. it contains biological materials and associated personal data, which may include or be
linked to genealogical, medical and lifestyle data and which may be regularly updated;
iv. it receives and supplies materials in an organised manner.
By contrast, in its Statement on Human Genomic Databases of 2002, the HUGO
Ethics Committee defined a ‘genomic database’ as being simply a collection of data
arranged in a systematic way so as to be searchable’.16 Even limiting ourselves to
international organisations that have guided the specific domain of genomic research
since 1997, it is immediately evident from such discrepancies that there is much confusion
over the very nature of population research. Drawing on the issues surrounding
traditional genetic testing for monogenic conditions, and fears about possible
discrimination against individuals—to say nothing of eugenics—many international
documents reflect either a total misunderstanding of the very specific and often basic
epidemiological nature of population genomics, or suggest norms that are ‘hybrid’ in
nature, thus creating confusion as to the actual risks and benefits specific to population
studies. This is most unfortunate since, as already mentioned, most genomic database
projects envision the creation of infrastructures—that is, of scientific resources—rather
than the study of a specific genetic condition or drug.17
15 Council of Europe (n 13), art 17 (emphasis added).
16 HUGO Ethics Committee, Statement on Human Genomic Databases (adopted December 2002). Available
17 Bartha M Knoppers and Alastair Kent, ‘Ethics Watch: Policy Barriers in Coherent Population-based Research
(2006) 7 Nature Reviews Genetics 8.
296 King’s Law Journal
In the search for, or construction of, international norms, it is also imperative to
distinguish population genomic biobanks and their associated databases from residual
tissue collections18 or biosamples collected during the course of clinical trials. Again, each
kind of collection has its own particular normative profile. Having said this, helpful
lessons can be learned from the approach taken to governing residual tissues, such as
stored tumour tissues for example. Recently, European cancer researchers involved in
TuBaFrost19 (a central European database of information derived from frozen tumour
samples stored in numerous different countries) proposed a Code of Conduct for the use
of residual tissue for research. That code supports the ‘co-ordinating principle’, whereby
‘the regulations of the country where the tissue was taken from the patient and was stored
decide whether the tissue may be used in another country with possibly different
regulations’.20 Moreover, the same would apply to data; although, in the case of population
biobanks, all data would be coded and so not be identifiable by the researcher seeking
To give just one more illustration of inconsistency before moving on, across the board
the international documents use terms to describe the required confidentiality
mechanisms for protecting genetic data that are confusing and contradictory22—although
international clarification may soon be forthcoming.23 In part, this can be explained by
the fear surrounding the possible misuse of genetic data. But the underlying causes may
well be traceable to a deeper uncertainty surrounding the concepts of ‘anonymisation’
and ‘identifiability’ themselves, as well as the tendency towards genetic exceptionalism.
With regard to anonymisation and individual identifiability, subject to laws and
guidelines, the dual requirements of reasonable manpower and practicality provide the
degree of data security necessary to ‘anonymise’ individual biosamples and data
sufficiently. Fully anonymised data is no longer subject to data protection legislation as
the data can no longer be linked to an individual. Genetic exceptionalism, however,
further complicates this issue by fostering a distinction between genetic and other medical
or personal data, leading to a requirement of heightened security mechanisms for genetic
18 Evert-Ben van Veen et al, ‘TuBaFrost 3: Regulatory and Ethical Issues on the Exchange of Residual Tissue for
Research Across Europe’ (2006) 42 European Journal of Cancer 2914.
19 See
20 van Veen et al (n 18) 2920.
21 Ibid, 2921.
22 Bartha M Knoppers and Madeleine Saginur, ‘The Babel of Genetic Data Terminology’ (2005) 23 Nature
Biotechnology 925.
23 International Conference on Harmonization of Technical Requirements for Registration of Pharmaceuticals
for Human Use, ‘Draft Consensus Guideline: Terminology in Pharmacogenomics E15’ (Current Step 2
version, 25 October 2006). Available at
Genomic Databases and International Collaboration 297
data. Obviously, in large population studies it is necessary to follow participants over
time. So then, data necessarily are coded.24
These and many other issues surrounding genomic data also have been discussed by
various scientific organisations, at both the international and national levels. A leading
example representing this third type of international actor is HUGO. For example, the
HUGO Ethics Committee’s Statement on Human Genomic Databases, discussed above,
maintains that such databases are ‘global public goods’.25 International bodies like HUGO
have a significant influence over the scientific community. By declaring that such a
principle forms the basis for its recommendations, the HUGO Statement sends out a
powerful and influential normative signal—at least, within the scientific community—
that human genomic databases should be seen as public resources; that all humans should
share in and have access to their benefits; and that the free flow of, access to, and exchange
of data are essential.26 The HUGO guidelines are not, however, binding on countries.
Nor, indeed, are guidelines issued by the fourth category of international actors—
namely, bodies that represent the industrialised nations, such as the OECD. The OECD
has issued numerous publications, guidelines, statistics and working papers in the areas
of biotechnology, health, science, innovation, transborder personal data protection, and
access to digital research data from publicly funded projects.27 Notably, in 2006 the OECD
published a report detailing the findings of a working party convened specifically to
examine the management and governance of human genetic research databases. That
report explores numerous options and possible ways forward.28 While the OECD’s
guidance documents and reports lack enforceability, and its formal membership is limited
in scope,29 the OECD’s role as a forum for reaching multilateral policy agreement and
achieving national and international policy co-ordination should not be underestimated.
Through mechanisms such as intergovernmental peer pressure and issuing ‘soft law’,30
the OECD can perform a potentially powerful, global norm-setting role. Occasionally, its
soft-law instruments do result in hard law in the form of binding treaties.
Overall, then, it is clear that, to achieve interoperability and collaboration, it is at the
international, multilateral level that a sound and comprehensive legal framework is
needed for governing genomic databases. Not least, this is because the networking of
population biobanks and other databases will be carried out at a global level, crossing
24 For example, CARTaGENE uses multiple codes for each institutional partner and separate codes for each
research project seeking to access the database. CARTaGENE itself cannot identify participants. See
25 HUGO Ethics Committee (n 16), recommendation 1.
26 Ibid, recommendations 2 and 3.
27 See, eg, OECD draft guidelines, ‘Principles and Guidelines for Access to Digital Research Data from Public
Funding: Promoting International Co-operation in the Use of Scientific Data Resources’ (December 2005).
28 OECD, ‘Creation and Governance of Human Genetic Research Databases’ (OECD Publishing, Paris 2006).
29 The OECD has 30 member countries. But it also has active relationships with many more countries, as well
as non-governmental organisations.
30 Within the OECD, ‘soft law’ refers to recommendations for action by national governments.
298 King’s Law Journal
national boundaries. Yet from the foregoing analysis it is obvious that, as the OECD’s
report noted above puts it,31
there is currently no international, comprehensive framework setting forth global consensus
on the issues of ownership, commercialization, exclusive licensing, access for researchers,
benefit sharing and other issues, as these pertain to population databases.
As a solution to this legal vacuum at the international level, some countries—for
example, Iceland and Estonia—have adopted national, legally binding and purpose-
specific legislation to govern their population database projects. Estonia’s Human Genes
Research Act 200032 contains provisions covering a variety of issues such as data
protection, prohibition against discrimination, the right of ownership of tissue samples
and oversight. Likewise, Iceland’s Act on a Health Sector Database, No 139/1998,33
together with its supporting Regulation,34 protects confidentiality, access to data from
health records, rights of patients, transfer of medical data and intellectual property. But
such national approaches to governing the creation and maintenance of genomic
databases are far from uniform. In particular, they offer a variety of positions—or no
position at all—on issues such as data protection, access to and release of database
materials, and possible commercialisation. Nor do existing national legal instruments
cover the issues associated with the networking of biobanks. Furthermore, they are only
enforceable in the national jurisdiction. They too, then, have limited value as a tool at an
international level.
Some national funding bodies—notably the National Institutes of Health in the
USA—wield considerable influence over genomic research practice. This is because their
policies have an enormous effect over the way in which research in this area is carried
out. Thus, one example drawn from the USA is the National Cancer Institute’s First
Generation Guidelines for NCI-Supported Biorepositories.35 This document serves as an
illustration of a national disease-specific initiative attempting to formulate common
guidelines and standards. But, as the OECD report discussed above points out, while such
‘policies may play a significant role in shaping the debate and offering guidance they do
not provide a complete global framework’.36 In part, this is because the influence of
funding bodies is informal rather than strictly legally binding. It is also largely confined
in scope to the scientific projects and initiatives that they fund, rather than being
universally applicable.
31 OECD (n 28) 61.
32 Inimgeeniuuringute seadus, RT I 2000, 104, 685.
33 Lög um gagnagrunn á heilbrigðissviði.
34 Regulation on a Health Sector Database, No 32/2000 (Reglugerð um gagnagrunn á heilbrigðissviði).
35 National Cancer Institute, First Generation Guidelines for NCI-Supported Biorepositories (April 2006).
Available at
36 OECD (n 28) 61.
Genomic Databases and International Collaboration 299
Despite the obvious problems of enforceability and applicability that they face,
international organisations are still keen to promote the networking and sharing of
resources worldwide. Thus, UNESCO’s Universal Declaration on the Human Genome
and Human Rights upholds the need for States ‘to continue fostering the international
dissemination of scientific knowledge concerning the human genome, human diversity
and genetic research and, in that regard, to foster scientific and cultural co-operation,
particularly between industrialized and developing countries’.37 This was reinforced by
UNESCO’s International Declaration on Human Genetic Data, which states that
researchers ‘should encourage the free circulation of human genetic data … in order to
foster the sharing of scientific knowledge’.38 Perhaps the most explicit, comprehensive
and clear guidance on the issue of genomic databases is to be found in the Council of
Europe’s Recommendation on Research on Biological Materials of Human Origin. It
maintains that ‘[m]ember states should take appropriate measures to facilitate access by
researchers to biological materials and associated data stored in population biobanks’.39
In the same vein, the OECD’s report on human genetic research databases notes that
‘increased collaboration seems inevitable and desirable’.40
Collaboration using population genomic databases will, however, be largely
dependent on their ability to harmonise in many crucial areas—not least with regard to
normative principles, oversight, governance mechanisms, technical and security
standards, and scientific practices.41 Whether such harmonisation will ever be
forthcoming depends, in turn, not only on agreeing an appropriate set of international
norms relevant to the creation and use of genomic databases, but also on the degree of
influence that such norms have on national approaches. Therefore, the application of
international norms is the next issue that we must examine.
For the purposes of examining trends in the application of international norms to date,
it is helpful to focus the analysis on specific issues about which there is some degree of
general normative agreement. Two crucial issues for international collaboration in
genomic research in respect of which international norms have emerged are: (1) how
benefits should be shared; and (2) how access to population biobank resources and
materials should be determined and supervised.
37 UNESCO (n 9), art 18.
38 UNESCO (n 12), art 18(c).
39 Council of Europe (n 13), art 20(1).
40 OECD (n 28) 134.
41 See below, section D.
300 King’s Law Journal
There is an obvious tension between these two issues, even though data sharing is a
form of benefit sharing. This is because, for certain stakeholders at least, there may well
be potential financial or other benefits to be made—for example, through
commercialisation of research results, or enjoying exclusive rights to control or exploit
database resources—that conflict with open access policies and anti-proprietary
principles. Yet, at the same time, it is obvious that the scientific value and usefulness of
genomic databases to researchers or companies wishing to access them would be greatly
increased if, at a minimum, certain biochemical measurements collected and key data
were to be entered in such a way as to acquire the meaningful, statistical significance
necessary for eventual clinical utility. As the OECD has observed, ‘[t]he main challenge
in the discussion of access to genetic research databases is to strike an appropriate balance
between the freedom of researchers and the interests of the participants and the public’.42
Benefit sharing is an international norm. It seeks to offset or to mitigate the effects of
State sovereignty over bioresources—or, at a lower level, of proprietary interests (or, at a
minimum, personal rights of control) over biological tissues and the data derived
therefrom.43 According to UNESCO’s Universal Declaration on the Human Genome and
Human Rights, the human genome in its natural state ‘shall not give rise to financial
gains’.44 Yet, eventual commercial exploitation of biosamples and the data derived
therefrom, such as in the form of new tests, drugs, or other intellectual property, is not
precluded by any international body. How, then, is it possible to safeguard benefit sharing,
and ensure that population genomic databases are recognised and treated as the ‘global
public goods’ that HUGO has declared them to be?45 A closer examination of the concepts
of benefit sharing and data access as applied at the national level reveals a hybrid
approach. Under this approach, there is no State or individual ‘sovereignty’ over
biosamples or data. But there is no open access either, in that researchers must respect
limits over the use of biosamples and data dictated at the national level, and must return
research findings and data derived from their use of the biosamples and data so as to
enrich the population database.
Limiting ourselves to countries that either already have or that are building large
genomic databases—such as Iceland (Icelandic Health Sector Database), Estonia
(Estonian Genome Project Gene Bank), the UK (UK Biobank), the USA (National Cancer
Institute Biorepository), Scotland (the Generation Scotland projects) and Canada (the
CARTaGENE Project in Québec)—it is evident that a variety of approaches have been
adopted, with respect to both benefit sharing and data access.
42 OECD (n 28) 113.
43 Lori Sheremeta and Bartha M Knoppers, ‘Beyond the Rhetoric: Population Genetics and Benefit-Sharing’
in Peter Phillips and Chica Onwuekwe (eds), Accessing and Sharing the Benefits of the Genomics Revolution
(Springer Kluwer, in press).
44 UNESCO (n 9), art 4.
45 HUGO Ethics Committee (n 16), recommendation 1.
Genomic Databases and International Collaboration 301
1. Benefit Sharing
Benefit sharing, as applied to human genetic research, has its origins in HUGO’s 1996
Statement on the Principled Conduct of Genetic Research,46 later developed more fully
in another HUGO Statement on Benefit-Sharing in 2000.47 This concept was
incorporated by UNESCO into its 2003 International Declaration on Human Genetic
Data, which holds that ‘benefits resulting from the use of human genetic data, human
proteomic data or biological samples collected for medical and scientific research should
be shared with the society as a whole and the international community’.48 Benefit sharing
can take many forms. These include technology transfer, capacity building, and access to
medical care or drugs given by way of recognition for those who have participated in
At a national level, this principle is not explicitly mentioned in any of the six countries
under study, except for Canada within its CARTaGENE project.49 Common to all six
population biobanks, however, is the fact that potential participants are told that their
involvement in the building of such infrastructures will not create or confer any property
rights in their biosamples or data.50 While this has become standard language in
biomedical research, it was necessary to reassure scientists in both the public and private
sectors and to be more transparent for participants. Most of these resources—while open
to access requests from both commercial and non-commercial entities—will impose
terms of use compatible with their general objectives. Yet, none has excluded the possibility
that some research may lead to biomedical products that return a profit. To that end, both
the fees charged for access and the obligation to return data to the resource in accordance
with the terms of agreements signed with industry, academic or charitable organisations
can function as sources of equitable re-investment in the databases.
In Iceland, neither the Act on a Health Sector Database, No 139/1998 nor its
supporting Regulation establishes clear guidance on whether intellectual property rights
associated with, or generated through using, the database belong to the licensee (deCODE
Genetics, a private biopharmaceutical company), to the Icelandic Health Sector Database,
or to both. Yet, the Act maintains that ‘[t]he licensee shall ensure that after the expiry of
the period of the licence, the Minister of Health and Social Security, or the party assigned
by the Minister to operate the database, shall receive indefinite use of all software and
46 HUGO Ethics Committee, Statement on the Principled Conduct of Genetic Research (adopted 21 March
1996). Text published in (1995) 6 Eubios Journal of Asian and International Bioethics 59.
47 HUGO Ethics Committee, Statement on Benefit-Sharing (adopted 9 April 2000). Available at http://
48 UNESCO (n 12), art 19(a).
49 CARTaGENE, Statement of Principles on the Ethical Conduct of Human Genetic Research Involving Populations
(2003). Available at
50 Amelia M Uranga et al, Outstanding Legal and Ethical Issues on Biobanks: An Overview on the Regulations of
Member States of the EuroBioBank Project (Instituto de Salud Carlos III, Madrid 2005) 62.
302 King’s Law Journal
rights required for the maintenance and operation of the database’.51 In Estonia, the
Human Gene Research Act 2000 is brief, but it at least indicates that ‘an authorized
processor or gene researcher shall unconditionally deliver descriptions of DNA or parts
thereof to the chief processor … with or without charge’.52 Furthermore, it stipulates that,
as a matter of law, the results of genetic research and the related intellectual property
rights should be provided. Until 2006, EGeen, a private commercial company, had
exclusive access to the Estonian Genome Project Gene Bank. However, since then, the
project has become fully publicly funded.
The approach of UK Biobank to benefit sharing and intellectual property is more
detailed in its specific policy document on intellectual property and access; although,
unlike in Iceland and Estonia, that document has no binding legal force, and UK Biobank
may amend it at will. UK Biobank’s policy affirms as one of its ‘core principles’ that UK
Biobank ‘is a managed research resource for the public good’. Thus, it continues, ‘UK
Biobank will encourage and provide access to the Resource and the results that flow from
it as widely and openly as possible in order to maximise its use and value for research’.53
Moreover, in addition to disseminating research results generally, users of ‘protected
material’ will be required to provide UK Biobank with ‘a copy of all of the results of their
research based on this material, including negative findings and supporting data, for
incorporation into the Resource. Additionally, ‘users who have had access to samples will
be required to provide sufficient details of the assay techniques used so that other
researchers will be able to comprehend the results’.54 This same policy of return of
enriched results is followed by CARTaGENE and Generation Scotland.
Overall, in the absence of royalties, profits or patents (which, at first glance and for a
number of years to come, would seem to be inapplicable to such infrastructures) it is
difficult to apply the international principle of benefit sharing beyond the obligation to
generate and widely disseminate new knowledge, and to return research results to the
population databases. Rapid publication is part of a growing trend (and pressure) to make
research results public, whether they be positive or negative. In the case of genomic
databases, this is all the more important considering the high levels of public participation
and investment.55 The application of the concept of benefit sharing to genomic databases
will continue to be problematic to say the least. For, as noted already, such databases are
not primarily disease-based or part of clinical trials, but rather research infrastructures
serving as a resource for multiple, more specific protocols. Participants provide access to
51 Article 5.11.
52 Section 19(1).
53 UK Biobank, Policy on Intellectual Property (‘IP’) and Access(Draft, 11 January 2005), p 2, para A.3. Available
54 Ibid, p 8, para C.9.3. ‘Protected material’ includes data (in anonymised form) relating to individual
participants’ health, lifestyle and environment, biological samples and data derived from sample analyses:
ibid, p 5, para C.6.3.
55 Bartha M Knoppers and Yann Joly, ‘The Social Genome?’ (2007) Trends in Biotechnology (submitted).
Genomic Databases and International Collaboration 303
their DNA and socio-demographic and medical information over extended periods of
time. But they do so for the future benefit of others, not for themselves. Accordingly, their
contributions are founded on the principles of solidarity and equity,56 as there are unlikely
to be any immediate products or profits forthcoming that can be provided by way of
return benefits, other than the datasets created.
2. Determining Access
The second crucial issue for the interoperability of genomic databases and fostering
international collaboration in genomic research is how access to database resources and
materials by third parties should be controlled and determined. While oversight through
ethical review and ongoing monitoring are major tenets of biomedical research, the form
that these control measures take must be somewhat different in the case of genomic
databases. Their governance is influenced by the fact that specific regulatory bodies will
often be created, which need to uphold the principles of transparency and accountability
over time.
The OECD Global Forum on the Knowledge Economy has provided some guidance
for the operation of biological research centres. It suggests that audit programmes and
quality review are essential, particularly when dealing with users, suppliers and outside
bodies.57 Furthermore, according to the World Health Organization, one model for
ensuring the accountability of genetic database creators, managers and users would be
through ‘the establishment of a regulatory body with a power to grant licences to create
and operate databases … This body might also oversee and monitor the process and
outcome of research activities involving genetic databases’.58
Yet, beyond such statements, at the international level, at least, very little has been
said about the type of ethical review and oversight that is specifically required for such
long-term infrastructures.59 Population databases hold the public’s interest in trust for
future generations. However, neither the level or type of independent ethical review—
including the expertise needed to judge the scientific worthiness and public acceptability
of would-be users’ access requests—nor the mechanisms for continuing oversight of such
structures have been properly addressed.60 In fact, it is at the national level that more
56 Ruth Chadwick and Kåre Berg, ‘Solidarity and Equity : New Ethical Frameworks for Genetic Databases’
(2001) 2(4) Nature 318.
57 OECD, Guidance for the Operation of Biological Research Centres Part 1: General Requirements for all BRCs,
(OECD Publications, Paris 2004), p 6, para 4.2.2.
58 World Health Organization, Genetic Databases: Assessing the Benefits and the Impact on Human & Patient
Rights, 2003, para 8.3. Available at
59 Shawn HE Harmon, ‘The Recommendation on Research on Biological Materials of Human Origin: Another
Brick in the Wall’ (2006) 13 European Journal of Health Law 293, 300.
60 Mylène Deschênes and Clémentine Sallée, ‘Accountability in Population Biobanking: Comparative
Approaches’ (2005) Journal of Law, Medicine and Ethics 40.
304 King’s Law Journal
specificity is found. Even there, however, while there are important areas of convergence,
there are also significant gaps and marked differences of approach. It is illuminating to
consider three specific topics in turn: (1) what kind of consent is required to obtain
participants’ data; (2) data access policies and practices relating to various different
categories of users; and (3) ethical approval and oversight provisions.
First, in relation to consent to obtain participants’ data, there is no doubt that
Iceland’s Act on a Health Sector Database, No 139/1998 and its Act on Biobanks, No
110/200061 were not only controversial but attracted worldwide attention with regard to
the issue of consent in respect of population biobanking. By way of background, the
former statute sought to ensure automatic, one-way downloading of encrypted health
information on all Icelandic citizens into deCODE Genetics, the private genomics
company that was granted an exclusive 12-year licence to set up and run the Icelandic
Health Sector Database and to mine the data. Consent to the transfer of health
information was ‘presumed’ under the Act, although eventually opting-out was provided
for.62 In 2003, such ‘presumed’consent to the transfer and use of health data was declared
unconstitutional by the Icelandic Supreme Court.63
Iceland’s approach sparked a heated international debate over the nature of the
consent required for entry into such databases. By virtue of their longitudinal, largely
epidemiological, research nature, and the fact that data security is such that participants
cannot be individually identified by researchers who are granted access to the database
resources, they are distinct from other kinds of medical research, as well as from drug
trials with definite endpoints and interventions. To be true to their nature—as repositories
designed to be used by many different researchers, over many decades, for many different
sorts of studies, including those that are currently unforeseeable—these resources
necessarily require a broader, more general or ‘generic’ form of consent; albeit not a
presumed one. It is unsurprising, then, that the other national databases, whether
mandated by legislation (for example, Estonia)64 or by the project initiators (for example,
UK Biobank), all require an explicit, broad consent particular to the specific nature of
such databases.
In terms of re-contacting participants to obtain additional data or biosamples over
time, some databases incorporate permission to re-contact participants into their initial
consents. Thus, UK Biobank and CARTaGENE ask potential participants upon
61 Lög um lífsýnasöfn.
62 Note that deCODE obtained separate, informed consent from participants for its collection of DNA samples.
Furthermore, demographic and genealogical data are largely within the public domain in Iceland. So then,
the controversy was focused on the presumed consent basis for the transfer and use of medical records.
63 Ragnhildur Guðmundsdóttir v The State of Iceland, No 151/2003. The Icelandic Supreme Court ruled that
art 7 of the Act on a Health Sector Database, No 139/1998 was unconstitutional because it did not give
adequate protection to personal privacy.
64 Human Genes Research Act 2000 (n 32).
Genomic Databases and International Collaboration 305
recruitment for their permission to re-contact them in the future, should new samples or
data be needed. Generation Scotland adopts the same practice by explaining that certain
uses will necessitate re-contact.65 But this practice is not entirely uniform.
Secondly, in terms of data access by different categories of potential user, it is
interesting that Estonia is the only genomic database of the six under study to offer
participants a right to access their data contained in the Gene Bank. Under the Human
Genes Research Act 2000, gene donors and their general practitioners have a statutory
right to access their decoded genetic data and descriptions of state of health held in the
database at any time, free of charge.66 This entitlement stands in sharp contrast to the
other five databases. But this may be partly explained by the fact that the aims of the
databases are not identical. While they all aim to promote genetic and genomic research
in order to improve public health, the Estonian project has an additional core objective:
to be used to improve the medical treatment of gene donors.67 Further, the Estonian
project is run through general practitioners, who can provide participants with access to
their individual data and explain and interpret it for them in a meaningful way within a
clinical setting.
With the exception of Estonia, then, which is unusual in this respect, all the genomic
databases inform potential participants of the long-term goals of the database, the open-
ended nature of potential uses of it, and the fact that all access requests are subject to
prior ethical review. But they maintain the position of no return or feedback of individual
results. This latter position reflects the general nature of these databases;68 although in the
case of UK Biobank its ‘no feedback’ policy stance has proven somewhat contentious,
particularly because declining to provide individual feedback is by no means an inevitable
policy position to take.69
Data access policies regarding other potential users are less uniform, although all of
the six databases retain full control over access to, and uses of, their resources. Generation
Scotland takes a very strict line with regard to access. It allows only its own investigators
to have direct access to its database.70 Elsewhere, when access by the public, charitable or
private sector is permitted, this is predicated on future research results eventually being
65 See, eg, Graeme Laurie and Johanna Gibson, Generation Scotland—Legal and Ethical Aspects, AHRB Centre
for Studies in Intellectual Property and Technology Law, September 2003, 50. Available at
66 Sections 11 and 16(2).
67 Susan MC Gibbons,Are UK Genetic Databases Governed Adequately? A Comparative Legal Analysis’ (2007)
27 Legal Studies (forthcoming).
68 Bartha M Knoppers, ‘Biobanking: International Norms’ (2005) 33(1) Journal of Law, Medicine and Ethics 7.
69 Gibbons (n 67). As she notes, participants in another population database project planned by the US
National Human Genome Research Institute will be given the option to be told about findings that affect
their health, such as whether they are HIV positive or unknowingly developing cancer: A Coghlan, ‘One
Million People, One Medical Gamble’ New Scientist, 19 January 2006.
70 See Laurie (n 65).
306 King’s Law Journal
returned to the databases. Due to the possible combination of a number of datafields,
the absence of unique identifiers is not a guarantee of anonymity for individual
participants where data are released to third parties. Accordingly, safeguarding security is
a primary concern. In practice, several different mechanisms are used to ensure security.
For example, data access may be limited by the amount and type of data sought, or
through mechanisms such as indirect data queries handled ‘in-house’ by the database
operator. Under the latter approach, scientists employed by the database itself undertake
data analysis at the request of external researchers, and release only the (aggregated)
results of the analyses, not the original data. Other than in Iceland, there is no exclusive
right of access by any single party to a genomic database.
With respect to international collaborations and access by users located outside the
jurisdiction, national practices and policies diverge even more markedly. Some databases
stipulate that biosamples themselves may not leave the country (Iceland and Estonia); or
that an aliquot must remain in the country (CARTaGENE). For its part, UK Biobank is
reluctant to release biosamples at all, and it requires special justification and approvals
before it will agree to do so. Meantime, in order for researchers outside Québec to access
CARTaGENE, they must collaborate with researchers in Québec.71 Once again, we can see
that the requirements concerning transborder flows of biosamples and data—which are
closely linked with deeper concerns to protect the databases’ integrity, their longevity
(especially against the depletion of physical biosamples) and participants’ privacy—lack
Thirdly and finally, in terms of ethical approval and oversight requirements and
mechanisms, across the board data access is subject to proof of prior ethics approval of
research protocols by the appropriate local ethics approval bodies, and agreement to
respect the database’s chosen security methods (for example, double-coding, use of a data
officer or privacy commission, and so forth). This is entirely in keeping with the long-
standing international consensus that biomedical research involving human subjects
requires prior ethical (and scientific) approval. All six countries under study have specific
committees, entities or designated data protection managers to handle access requests. For
example, CARTaGENE has a specific data and sample access committee; while the
National Cancer Institute’s Biorepository uses a system of data access with defined levels
of access privileges, which are approved by the institutional review board and/or the
scientific advisory board.72 Requests for access to UK Biobank will be reviewed by a
specially designated NHS Research Ethics Committee, as well as being vetted by UK
Biobank itself.73 The position is not so clear-cut, however, in respect of ongoing oversight
of specific individual projects once data or biosamples have been released to external
71 See
72 National Cancer Institute (n 35) 27.
73 UK Biobank Ethics and Governance Framework (version 2.0, July 2006), available at http://www.ukbiobank.
Genomic Databases and International Collaboration 307
users. Nor is it consistent in relation to the ongoing oversight of the operations and
management of the genomic databases themselves. National provisions and practices,
and the powers, roles and responsibilities of key oversight bodies, tend to vary quite
markedly.74 Once again, this is an area where greater international agreement,
harmonisation and standard-setting would be invaluable.
The above analysis demonstrates that there appears to be some symmetry, both
internationally and nationally, on at least two key normative issues (benefit sharing and
data access) that are central to achieving successful international collaboration using
population genomic databases. There is also widespread global support for such
collaboration as a matter of principle, as expressed by several influential international
bodies. Yet, as we have seen, there remain significant gaps in the existing framework
(especially at the international level) and areas where policies and their implementation
diverge between different countries. On top of this, there are several additional roadblocks
to interoperability.
In terms of roadblocks, first, we can see that governance is a common priority for
individual countries. But not only do their oversight mechanisms differ, the countries are
not consistent—or they have no position at all—on either the acceptability of the
exchange of data or samples, or on the equivalent recognition of other countries’ ethics
approval systems. The reality of this issue as a potential obstacle to interoperability and
collaboration is best illustrated by the recent opinion of New Zealand’s Health Research
Council Ethics Committee (HRCEC), which was asked to give a ruling on the ethical
acceptability of sending tissue samples (and data) outside its jurisdiction.75 The
researchers (members of an international research group) wanted to send samples abroad,
so that the samples could be stored and used overseas for future, unspecified research
uses. The proposal was that explicit reconsent would not be sought from participants for
future uses. Nor would new approval be sought from any New Zealand ethics committee.
Instead, future researchers would simply seek ethical approval from their relevant local
(overseas) ethical committee. The HRCEC concluded that the proposal was ethical, and
that separate approvals for future uses abroad would not be required from a New Zealand
ethics committee. However, this process would only be permissible if ‘there is satisfactory
74 See, eg, Gibbons (n 67), which compares the ethical oversight frameworks applicable to four population
biobank projects, including those in the UK, Estonia and Iceland.
75 Note, ‘New Zealand Health Research Council Ethics Committee Case Study: The Ethics of Storing of Tissue
for Future Unspecified Research’ (2005) 2. Available at
308 King’s Law Journal
evidence of a robust approval process carried out by a responsible ethics committee and
that committee is accredited within a system which meets the standards held in New
Short of establishing a central clearing house of ‘ethically’ approved international
protocols, however, the New Zealand example illustrates at the macro-level what is already
a chronic problem in multi-site studies at the national level. Practices, policies and
principles applied by different approval bodies, even within a single country, can differ
markedly. In the international context, problems of verifying overseas practices and
standards, and satisfying multiple bodies in various countries, are even more acute. In
recent years, several initiatives have been launched in an attempt to encourage
standardisation of ethical norms and practices with regard to population genomics so as
to ease international research collaboration. For example, UNESCO has created an Ethics
Observatory.77 While certainly a welcome step, the Ethics Observatory is more of an
inventory of resources and centres of expertise than a means for actually co-ordinating
ethical approval mechanisms in order to facilitate international collaboration. Similarly,
the international HumGen database contains regrouped information on policies, laws
and literature specific to the socio-ethical and legal issues surrounding population
genomics.78 Such resources can serve to guide researchers. But examples of actual
consents, confidentiality clauses, security mechanisms and intellectual property policies
would be equally if not more instructive. Ideal as it may seem, there are examples—such
as the Pediatric Oncology Group (POG)79—that have managed to use consents and
policies that cross international borders, and whose main components and language are
standardised (and, therefore, immune from the ‘linguistic tinkering’ of local ethics
Secondly, as mentioned above, even if an international collaboration were to be
ethically approved and overseen under the auspices of some ‘equivalency recognition’
process, its realisation may well be thwarted by the maze of terminology describing the
applicable confidentiality and security mechanisms. Nowhere is the issue of semantic
interoperability more acute than in the arena of data security. While standardisation is not
76 Ibid, 2.
77 The GEObs (Global Ethics Observatory) is a resource hub that links databases of information about ethics
activities around the world. It aspires to provide a platform to support the development of bioethical policies
and practices. See
78 See and The PopGen site lists the key
international, regional and national norms relevant to population genetic research, and details selected
literature relevant to each.
79 POG was a US and Canadian clinical trial co-operative group, formed to undertake childhood cancer
studies. All of its protocol-driven cases were reviewed centrally at the Quality Assurance Review Center, a
non-profit healthcare organisation based in Providence, Rhode Island. In 2000, POG merged with several
other paediatric co-operative groups to form the Children’s Oncology Group (COG).
Genomic Databases and International Collaboration 309
possible due to cultural and legal diversity, at a minimum a lexicon or harmonisation of
approaches is necessary. How else, for example, are researchers who receive or access
samples from multiple databases to know if a ‘reversibly anonymised’ sample is the
equivalent of a ‘de-identified’, ‘coded’, ‘pseudonymised’ or ‘unlinked’ one? This issue has
an impact well beyond the obvious difficulties of international collaboration when
confronted with incomprehensible and differing terminology used to describe the degree
of identifiability of data. Certainly, it could thwart the validity of the initial consents given
by participants. Most participants will not understand terms such as ‘proportional
anonymity’ or ‘pseudonymised’ data, for example.80 However, there will probably also be
inconsistent interpretation by regulatory authorities, ethics committees and sponsor
companies. At a minimum, a concordance of language—if not the use of simpler language
such as ‘coded’ (single or double) and ‘anonymised’ (irreversibly stripped of identifiers)—
would encourage and foster international collaboration.
Thirdly—and perhaps most importantly—international collaboration must be
ensured through a more co-ordinated effort to build, foster and sustain the necessary
mechanisms and tools for interoperability. Here, an umbrella organisation, called the
‘Public Population Project in Genomics’, or P3G Consortium, is leading this effort.81 The
objectives of P3G are to:
harmonise biological, medical, demographic and social data collected from
participants to allow effective comparisons of datasets, and pooled/combined studies
in order to increase statistical power of gene/environment analyses;
share approaches to ethics, public engagement, governance and intellectual property
develop policies and strategies for effective translation of genetic data to health care
systems in developed and developing countries; and
promote multidisciplinary training in initiatives in population genomics research
(to include biomedical, social, ethical, and public health aspects).
P3G is neither a research project nor a database. Rather, it is a network of the major
biobanks and population studies around the world. For its members, collaboration in
P3G substantially reduces the time needed to achieve the size of cohort of persons with a
particular disease needed to undertake large-scale genomic and epidemiological research.
It thereby enables an understanding of disease risk to be achieved more rapidly, and
discoveries to be translated more quickly into health care.82 The tools necessary for such
80 See Knoppers and Saginur (n 22); International Conference on Harmonization of Technical Requirements
for Registration of Pharmaceuticals for Human Use (n 23) 32.
81 See
82 Sharon A Savage, ‘Genetic Association Studies: Where Are We Now?’ (2006) 3 Personalized Medicine 371.
310 King’s Law Journal
international efficiency in population genomics are being built and shared through the
P3G Observatory.83
The crucial and pressing question that remains is this: can the same achievements as
the P3G initiative is bringing about, especially in terms of scientific and technological
harmonisation, be accomplished with respect to international socio-ethical and legal
interoperability in a way that still respects diversity between genomic databases?84 In the
absence of such common tools, norms, laws and approaches within a properly
harmonised international framework, international collaboration will remain an empty
83 See
84 Jane Kaye, ‘Do We Need a Uniform Regulatory System for Biobanks Across Europe?’ (2006) 14 European
Journal of Human Genetics 245.
Genomic Databases and International Collaboration 311
... In fact, the epidemiological objectives and longitudinal nature of biobanks can be well described in consent-related documents; this consent can also stipulate the manner in which samples will be conserved, the mechanisms for data security, and, most importantly, the ongoing governance structures for access and ethics monitoring. If a competent adult decides that these conditions and protections are sufficient, why would such consent-broad as to future studies yet also specific as to the governance and oversight of biobanks themselves-be invalid [8]? The answer to this question, it seems, continues to rest on a certain concept of autonomy still applied in both contemporary bioethics [9,10] and medical law [11,12]. ...
... This characteristic of human genomic research has stimulated the emergence of new trends in the field of ethics, among them solidarity and universality [34,35]. Solidarity refers to a common willingness to share information for the benefit of others, for the common good [8,34]. Universality, in turn, emphasizes that genetic knowledge is beneficial beyond borders and so for other "publics" [34]. ...
Samples and data from population studies are stored for long periods of time, and can be accessed by national and international researchers to further their own studies and contribute to their understanding of the impact of a number of factors (e.g., environment, lifestyle) on common diseases and their progression. Part 2 of this Chapter discusses the nature of the researcher’s duty to inform, which is the result of an individualistic conception of autonomy. Parts 3 and 4 review this restrictive conception of autonomy, and concludes that it is rooted in a unilateral approach that is incongruous with the nature of biobank genomic research. Finally, Part 5 proposes that autonomy be complemented by the principle of reciprocity, which would not only create a fair and balanced relationship between researchers and participants, but would also recognize the public as a key contributor to genomic research.
... In fact, the epidemiological objectives and longitudinal nature of biobanks can be well described in consent-related documents; this consent can also stipulate the manner in which samples will be conserved, the mechanisms for data security, and, most importantly, the ongoing governance structures for access and ethics monitoring. If a competent adult decides that these conditions and protections are sufficient, why would such consent-broad as to future studies yet also specific as to the governance and oversight of biobanks themselves-be invalid [8]? The answer to this question, it seems, continues to rest on a certain concept of autonomy still applied in both contemporary bioethics [9,10] and medical law [11,12]. ...
... This characteristic of human genomic research has stimulated the emergence of new trends in the field of ethics, among them solidarity and universality [34,35]. Solidarity refers to a common willingness to share information for the benefit of others, for the common good [8,34]. Universality, in turn, emphasizes that genetic knowledge is beneficial beyond borders and so for other "publics" [34]. ...
... The UK Biobank ethics and governance framework contains an assurance that only research uses that have been approved by both UK Biobank and a relevant ethics committee will be allowed, and that data and samples will be anonymised before being provided to research users. Available at content/uploads/2011/05/EGF20082.pdf 29 Knoppers, B. M., Abdul-Rahman, M. N. H., & Bédard, K. (2007). Genomic databases and international collaboration. ...
... Genomics and world health: Report of the Advisory Committee on Health Research, the difference between genomics and genetics is that genetics scrutinises the functioning and composition of a single gene whereas genomics addresses all genes and their inter relationships in order to identify their combined influence on the growth and development of the organism. 32 Knoppers, B. M., Abdul-Rahman, M. N. H., & Bédard, K. (2007). Genomic databases and international collaboration. ...
Full-text available
Although the concept of ownership of human tissue as well as the question of the rights of the tissue source to excised tissue have not been fully developed in law either in Nigeria or in England, recent developments in genetic science and biobank research have made this a contemporary controversy in the sense that biobank research has become an integral part of the process of developing diagnoses and therapies for complex diseases. Biobanks can be used not only for basic research aimed at developing therapeutic products or understanding fundamental biological principles such as molecular mechanisms etc., but also for clinical and epidemiological research. They are now a prerequisite for conducting Genome Wide Association Studies (GWAS) that explore connections between genotypes and phenotypes in order to identify genetic risk factors for common diseases such as heart disease, autoimmune diseases and psychiatric disorders. In spite of the growing importance of biobank research and the attendant significance of the role of the tissue source to the development of science, the law has not developed clear-cut principles that protect the interests of a tissue source who contributes valuable samples or data to biobank research. In the context of biobank research, this discussion engages two intersecting interests: the individual interest of the tissue source, and the communitarian interests of the overall public good that the prospect of biobank research brings. Within this discussion, the thesis discusses protecting the tissue source, his entitlement to privacy of his data; as well as his entitlement to choosing when and if he wants his data or samples used in future research. The thesis also proceeds from a supposition that the tissue source should be given a say in the decisions relating to secondary uses of the samples and data. By this position, the thesis is not advancing a case for an abolition of biobank research, but that the autonomous choice of the tissue source in relation to future research be recognised and protected.
... Genomic data is highly distinguishable, considering that with only 30 SNPs (i.e., single nucleotide polymorphisms: a type of common variation on the genome), the individual can be identified (Dankar et al. 2018). With the evolution and expansion of -omics technologies, the sources of genomic data are increasing, genetic/genomic databases are expanding through research collaborations, and vast amounts of masked or aggregated genetic data are being stored, analyzed, and provided to researchers (Knoppers et al. 2007;Karczewski et al. 2020;WHO 2002). Outside the healthcare/research systems, large pools of genetic data are generated by private companies offering various recreational, direct-to-consumer (DTC) genomics services (Thiebes et al. 2020). ...
Full-text available
Data practices in biomedical research often rely on standards that build on normative assumptions regarding privacy and involve 'ethics work.' In an increasingly datafied research environment, identifiability gains a new temporal and spatial dimension, especially in regard to genomic data. In this paper, we analyze how genomic identifi-ability is considered as a specific data issue in a recent controversial case: publication of the genome sequence of the HeLa cell line. Considering developments in the sociotechnological and data environment, such as big data, biomedical, recreational, and research uses of genomics, our analysis highlights what it means to be (re-)iden-tifiable in the postgenomic era. By showing how the risk of genomic identifiability is not a specificity of the HeLa controversy, but rather a systematic data issue, we argue that a new conceptualization is needed. With the notion of post-identifiability as a sociotechnological situation, we show how past assumptions and ideas about future possibilities come together in the case of genomic identifiability. We conclude by discussing how kinship, temporality, and openness are subject to renewed negotiations along with the changing understandings and expectations of identifiability and status of genomic data.
... The study shows that disjointed approaches to principles and practices still exist [102], and researchers must deal with these disjointed concepts which are sometimes based on local regulatory requirements. Unless there is a harmonisation of principles at an acceptable international level of concordance these concepts will continue to form challenges [123]. For example, how are researchers who access data from multiple sources which may be from various jurisdictions to know if a de-identified, coded, unlinked or pseudonymised data is equivalent to a reversibly anonymised data [15]. ...
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Neuroscience research is producing big brain data which informs both advancements in neuroscience research and drives the development of advanced datasets to provide advanced medical solutions. These brain data are produced under different jurisdictions in different formats and are governed under different regulations. The governance of data has become essential and critical resulting in the development of various governance structures to ensure that the quality, availability, findability, accessibility, usability, and utility of data is maintained. Furthermore, data governance is influenced by various ethical and legal principles. However, it is still not clear what ethical and legal principles should be used as a standard or baseline when managing brain data due to varying practices and evolving concepts. Therefore, this study asks what ethical and legal principles shape the current brain data governance landscape? A systematic scoping review and thematic analysis of articles focused on biomedical, neuro and brain data governance was carried out to identify the ethical and legal principles which shape the current brain data governance landscape. The results revealed that there is currently a large variation of how the principles are presented and discussions around the terms are very multidimensional. Some of the principles are still at their infancy and are barely visible. A range of principles emerged during the thematic analysis providing a potential list of principles which can provide a more comprehensive framework for brain data governance and a conceptual expansion of neuroethics.
... However, this focus on either obtaining broad consent or on full anonymization of samples is being increasingly criticized for its inability to adequately protect participants' interests (Mostert et al., 2016). For example, there is no harmonization regarding appropriate measures to protect privacy in data-and sample-based research (Knoppers et al., 2007;Zika et al., 2011;Kaye et al., 2018). In addition, whether anonymity is actually possible is being increasingly questioned because of advances in genomics and data-driven research (Lowrance and Collins, 2007;Laurie, 2011;Freeman Cook and Hoas, 2013;Kasperbauer et al., 2018). ...
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Organoids are three-dimensional multicellular structures grown in vitro from stem cells and which recapitulate some organ function. They are derivatives of living tissue that can be stored in biobanks for a multitude of research purposes. Biobank research on organoids derived from patients is highly promising for precision medicine, which aims to target treatment to individual patients. The dominant approach for protecting the interests of biobank participants emphasizes broad consent in combination with privacy protection and ex ante (predictive) ethics review. In this paradigm, participants are positioned as passive donors; however, organoid biobanking for precision medicine purposes raises challenges that we believe cannot be adequately addressed without more ongoing involvement of patient-participants. In this Spotlight, we argue why a shift from passive donation towards more active involvement is particularly crucial for biobank research on organoids aimed at precision medicine, and suggest some approaches appropriate to this context.
For more than two decades, in the era of post-genomics and personalized precision medicine, biobanks for biomedical research have successfully fostered the development of basic and translational biomedical research. The expansion of biobanking has brought a wide and intense debate on ethical, legal and social implications (ELSI) when using large numbers of human biological samples and associated personal data. All these challenges are relatyed to the fact that these infrastructures allow several future research projects to be carried out along general lines of research, with the use of samples and sensitive information, such as genetic data, which can be shared internationally, and whose specific purpose the donor cannot know at the time of donation. In this chapter, I will address the challenges that have emerged at the different stages of the evolution of biobanks, from biobanks’ governance stage to the sustainability stage, through the harmonization and collaboration networks stage, in order to address the challenges biobanks will deal with in the near future.KeywordsBiobanksGovernanceSustainabilityEthicsLaw
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Background Genetic/genomic testing (GGT) are useful tools for improving health and preventing diseases. Still, since GGT deals with sensitive personal information that could significantly impact a patient’s life or that of their family, it becomes imperative to consider Ethical, Legal and Social Implications (ELSI). Thus, ELSI studies aim to identify and address concerns raised by genomic research that could affect individuals, their family, and society. However, there are quantitative and qualitative discrepancies in the literature to describe the elements that provide content to the ELSI studies and such problems may result in patient misinformation and harmful choices. Methods We analyzed the major international documents published by international organizations to specify the parameters that define ELSI and the recognized criteria for GGT, which may prove useful for researchers, health professionals and policymakers. First, we defined the parameters of the ethical, legal and social fields in GGT to avoid ambiguities when using the acronym ELSI. Then, we selected nine documents from 44 relevant publications by international organizations related to genomic medicine. Results We identified 29 ELSI sub-criteria concerning to GGT, which were organized and grouped within 10 minimum criteria: two from the ethical field, four from the legal field and four from the social field. An additional analysis of the number of appearances of these 29 sub-criteria in the analyzed documents allowed us to order them and to determine 7 priority criteria for starting to evaluate and propose national regulations for GGT. Conclusions We propose that the ELSI criteria identified herein could serve as a starting point to formulate national regulation on personalized genomic medicine, ensuring consistency with international bioethical requirements.
The Public Project in Population Genomics (P3G) is a public, accessible, central internet repository for research tools and knowledge transfer. The P3G consortium has identified several roadblocks in the socio-ethical and legal issues that are reflected in current laws and research-ethics guidelines governing population studies.
Given the burgeoning of genetic research and proliferation of human genetic databases, especially in the biomedical sphere, this paper explores whether the existing laws and regulatory structures for governing genetic databases in England and Wales are adequate. Through a critical survey of relevant rules, bodies and practices, it argues that the current UK framework is far from ideal in at least five major areas: (1) forms and styles of law used, especially the separate legislative regimes for physical biomaterial and data; (2) core definitions; (3) formal regulatory bodies, licensing and notification requirements; (4) ethics committees and other advisory panels; and (5) enforcement powers and sanctions. Such shortcomings could have major implications for stakeholders, hamper efforts to achieve European or international harmonisation of genetic database principles and practices, and undermine the UK’s standing as a world leader in genetics and biotechnology. Drawing on comparative analysis of governance strategies adopted in Estonia, Iceland and Sweden, the paper identifies alternative options and lessons from experiences abroad, suggesting possible avenues for reform that may warrant serious consideration in the UK.
Genetic database initiatives have given rise to considerable debate about their potential harms and benefits. The question arises as to whether existing ethical frameworks are sufficient to mediate between the competing interests at stake. One approach is to strengthen mechanisms for obtaining informed consent and for protecting confidentiality. However, there is increasing interest in other ethical frameworks, involving solidarity — participation in research for the common good — and the sharing of the benefits of research.
Biobanking activities for genetic research purposes have recently undergone nothing short of a small revolution. Many biobanks have left their traditional home of a small refrigerator in a laboratory to reach the unprecedented proportion of large, sophisticated storage centers containing DNA samples from whole populations. As we turn our attention to research on complex diseases and show great interest in human genetic variation and genetic epidemiology, we need to base our research not only on the DNA of small family cohorts, but on larger sample collections, coupled with geographic location, genealogical information, and environmental and medical data. Population genetic research projects are underway around the world. Setting up such large-scale population biobanks is a challenge for any researcher. Population genetic research projects raise legal, ethical, and social issues that need to be addressed properly in order to maintain the trust of the population, an absolute requirement for the success of such research endeavour.
Genetic research is moving from the study of heredity, to risk factors in common diseases, to that of normal genetic variation. A similar pattern is emerging in biobanking. From use for diagnosis and treatment or, for pathology and research, banked tissue samples are now seen as valuable for the study of whole populations. Discrepancies exist however, between the socio-ethical and legal frameworks governing biobanks at the international, regional and national levels. Indeed, unless some harmonization is promoted, the proposed benefits may never be achieved.