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2004
Protecting Privacy in the Age of Genetic Information
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Population Biobanking in Canada: Ethical, Legal and Social Issues
Document Prepared for the Canadian Biotechnology Advisory Committee
By
Lorraine Sheremeta
September 2003
Table of Contents
-
Background
-
“Biobank” Defined
-
Overview of Previously Commission
Works
-
Survey of National Approaches to the
Development of Population Genetic Biobanks, by Mylène
Deschênes and Geneviève Cardinal
-
Toward a Comprehensive Information Privacy
Regime for Research and Biobanks, by Michael Yeo
-
Whose Genes, Who's Safe, How Safe?
Publics' and Professionals' Views of Biobanks,
by Edna Einsiedel
-
New Developments
-
United Kingdom House of Commons Science and
Technology Committee Report
-
DNA Sciences Inc. Sale of the Gene Trust to
Genaissance Pharmaceuticals
-
Public Opinion Research into Biotechnology
Issues – Eighth Wave
-
Public Opinion Research into Genetic
Privacy Issues
-
Discussion: Major Issues for Canada to
Consider Re Biobanking Policy
-
Consultation, Education and the Role of the
Media
Summary: Consultation, Education and the
Role of the Media
-
Recruitment
Summary: Recruitment
-
Privacy and Confidentiality
Privacy
Confidentiality
Exceptions to the Physician's Duty
of Confidence
Privacy Legislation in
Canada
Federal Personal Information Protection
and Electronic Documents Act (PIPEDA)
Provincial Legislation for the Protection
of Personal Information in the Private Sector
Provincial Privacy Legislation Concerning
Health Information
Summary: Privacy and
Confidentiality
-
Informed Consent and Communication of Research
Results
Individual Consent to
Research
Retrospective Research Involving
Previously Existing Collections
Prospective Research
Research Involving Children
Population Consent
Public Opinion Data
Summary: Informed Consent
-
Commercialization
Summary: Commercialization
-
Governance
-
Summary of the Main Issues
Public Education and
Consultation
Privacy and Confidentiality
Informed Consent
Commercialization
Governance
Recruitment Strategies
-
Overview of Large-scale Population Genetic
Research Initiatives
-
Excerpts from the Government Response to
the Work of the Medical Research Council Report by the House of
Commons Science and Technology Select Committee
-
Summary of Canadian Privacy
Legislation
-
Informed Consent: Information Relevant to
Individual Participants in Population Genetic
Research
Article 2.4
-
Commentary
Article 10.2
-
An Overview of International Statements
Relating to Privacy and Genetic Information
-
Background
In 2002, the Canadian Biotechnology Advisory Committee
commissioned a series of academic papers on issues associated
with population genetic biobanks:
-
Survey of National Approaches to the Development of
Population Genetic Biobanks, by Mylène
Deschênes and Geneviève Cardinal
-
Toward a Comprehensive Information Privacy Regime for
Research and Biobanks, by Michael Yeo1
-
Whose Genes, Who's Safe, How Safe? Publics'
and Professionals' Views of Biobanks, by Edna F.
Einsiedel
These papers, in conjunction with a presentation titled
“Biobanks, Research and Privacy: Overview of Canadian
Legislation” delivered by Patricia Kosseim at the Genome
Canada GELS Winter Symposium held in Montreal, Quebec in
February 2003, provide the basis from which this synthesis
document is derived.2 The
purpose of this paper is to summarize and synthesize the salient
ethical, legal and social issues that are relevant to biobanking
in Canada. Where necessary, I have supplemented these works with
other relevant material to expand and develop arguments as
needed.
In addition to the materials noted above, there are at least
four recent developments that warrant comment and inclusion in
this synthesis document:
-
The United Kingdom House of Commons Science and Technology
Committee released a report titled “The Work of the
Medical Research Council” 3 in which the committee levies
harsh criticism at UK Biobank. In June 2003, the United
Kingdom government publicly responded to the
Committee's report. Appendix B
contains a summary of the committee recommendations
concerning Biobank along with the government responses4 to those
recommendations.
-
In May 2003, in anticipation of bankruptcy, DNA Sciences
Inc. sold substantially all of its assets, including its
“Gene Trust” biobank, to Genaissance
Pharmaceuticals.5 The
issues arising from this transaction are important and
highlight the need for firms to employ defensive legal
strategies to obviate the possibility that biobanks may be
sold as assets in the case of financial hardship or
bankruptcy proceedings. This situation raises general
concerns over the sale or other disposition of biobanks
and related data.
-
In March 2003, the Canadian Biotechnology Secretariat
released a new “wave” of public opinion
research on biotechnology issues.7 A portion of the survey data
refers specifically to DNA mapping and patenting, and the
data from this portion of the survey are included in the
relevant sections of this paper.
-
In August 2003, the Canadian Biotechnology Secretariat
released a report titled “Public Opinion Research
into Genetic Privacy Issues.”7 It is an important survey
because it probes issues related to genetic privacy and
biobanking and further contextualizes and reaffirms the
tenor of the conclusions made by Professor Einsiedel
concerning the publics' and professionals'
views on biobanks.
In recent years, the storage and subsequent use of human
biologic materials have become a hotly debated bioethical issue.
Numerous professional organizations have issued statements that
directly or indirectly touch on this issue.8 At least three important
developments pertaining to the use of human tissue for clinical
diagnosis and research have focussed attention on these issues.
First, previously unforeseen uses have been identified for
previously collected and stored tissue samples, and researchers
are increasingly able to derive valuable genetic information
from stored biological samples. Second, the research paradigm in
genetics has shifted from linkage analysis of relatively small
numbers of genetic samples to large-scale population genetic
initiatives, which often involve the collection, storage and
analysis of hundreds of thousands of samples. Third, with the
advent of new, high throughput techniques to sequence DNA, there
is a growing concern that the use of genetic and other medical
information gleaned from these materials may be used in ways
that violate individual privacy rights and could result in
unfair discrimination against individuals and/or groups.
There is considerable optimism that society will benefit
profoundly from innovations stemming from the Human Genome
Project. It is hoped that analysis of data procured in
large-scale population genetic studies will enable researchers
to gain a better understanding of gene–environment
interactions that are implicated in complex diseases such as
heart disease, diabetes, Alzheimer's disease, multiple
sclerosis and other commonly occurring human diseases. Numerous
large-scale population genetic studies have been commenced and
many more are at various stages of planning (see Table 1).
As with all technological advances, both risks and benefits are
associated with population genetic studies. Despite the optimism
that human health and well-being will ultimately be improved as
a result of population genetic research, numerous ethical, legal
and social concerns have been raised. For example, concerns
regarding individual and group consent,9 ownership of human biologic
materials,10 privacy and
confidentiality,11 genetic
discrimination and stigmatization12 and eugenics13 have been repeatedly raised.
Academic researchers focussing on the ethical, legal and social
issues of the Human Genome Project have initiated ample debate
on these topics.
Table 1 –
Examples of Proposed and Existing Population Databases and
Biobanks
Some Proposed Population Databases
|
Project
|
Company
|
DNA Sample Size
|
Budget
|
Status
|
Icelandic Health Sector Database
|
deCODE Genetics
|
280 000
|
$212 million
|
Health database in 2003; 80 000 samples genotyped
|
Estonian Genome Project
|
eGeen Inc.
|
1 million
|
$150 million
|
3-year, $2.5-million pilot (10 000 donors)
commenced Fall 2002
|
UK Biobank
|
not known
|
500 000
|
$66 million
|
Full enrolment in 2004
|
Marshfield Personalized Medicine
|
|
40 000
|
$3.8 million
|
Enrolling Fall 2003
|
National Children's Study (U.S.)
|
|
100 000
|
not known
|
Full study begins in 2004
|
Latvian Genome Database
|
not known
|
60 000
|
$1.7 million
|
Law passed in June; seeking funding
|
Quebec CARTaGENE
|
not known
|
50 000+
|
$19 million
|
Seeking funding
|
Existing Biobanks and/or Health Records
|
Västerbotten, Sweden
|
UmanGenomics
|
80 000
|
|
Data use agreement with country in 2002
|
Mayo Clinic (U.S.)
|
not known
|
100 000
|
|
Prototype health database completed in July
|
European Prospective Investigation into Cancer and
Nutrition (EPIC) (Europe)
|
|
350 000
|
|
Pooling data for cancer studies through consortium
|
Nurses' Health Study (U.S.)
|
|
63 000
|
|
|
American Cancer Society Cancer Prevention Study
(CPS-II) (U.S.)
|
|
110 000
|
|
|
CDC National Health and Nutrition Examination Survey
(NHANES III) (U.S.)
|
|
7 300
|
|
Proposals to use individual data requested
fall 2002
|
At present, Canada is considering whether or not to commence a
large-scale population genetic study.14 The Canadian Lifelong Health
Initiative remains at the planning stages, although it is
planned to commence as early as 2005. The proposed study would
follow the health of 30 000 infants from across Canada
for a defined time period or for the lifetime of the infant. It
has not gone unnoticed that Canada's national health
system, like those in the United Kingdom, Estonia and Iceland,
provides an ideal setting for a study of this type. The proposed
study will involve early psychometric testing to evaluate
intellectual, emotional and social development, as well as
detailed environmental measures. The study is significantly
smaller than many other large-scale initiatives. For example, UK
Biobank expects to collect data on 500 000 individuals
and the Estonian Genome Project hopes to collect data on
approximately one million individuals (three-quarters of the
country's 1.4 million population).
Because of the nature of the cohort, the planners of the
proposed Canadian Lifelong Health Initiative will face numerous
legal and ethical challenges. The fact that the research
subjects are minors and will be unable to consent for many years
is problematic and will require added precautions to ensure the
strictest protection of the research subjects. There is general
agreement that Canadian publics must be involved in meaningful
consultation about the initiative and that the project planners
must be responsive to concerns raised by the publics. Questions
remain concerning how such consultation ought to proceed. The
first issue that ought to be addressed through consultation is
the determination of whether Canadians should promote population
genetic research generally and, in particular, whether we should
promote this particular initiative. The fact that the planners
of the project deem the study meritorious does not necessarily
mean that the general publics will be of the same opinion.
Failure to apply the highest scientific, legal and ethical
standards to this initiative or similar programs will inevitably
undermine public trust and confidence in scientific development
and the products of such research.15 The integrity of the
project's development and of the research process itself
is critical. Of the errors made in the development of the
Icelandic health sector database, Wolfgang Edelstein aptly
notes:
The procedural haste, the refusal to solicit the opinions of
foreign experts (who have greater experience with
industry/science/ethics conflicts), the unwillingness to take
domestic criticism into account, the politicized and partisan
debate in the case, the crude oversimplifications in the
discussions and controversies over the biological processes
basic to the inheritance of disease, the power of private
interests, the plebiscitarian legitimation procedures in a case
of subtle ethical, social and scientific controversy, all this
is bound to raise a lot of misgivings, to say the least. It does
not augur well for the search for consensual solutions of
ethical conflicts in vulnerable domains of social life.16
These issues also apply to other established projects. For
example, the United Kingdom House of Commons Science and
Technology Committee has recently censured the Medical Research
Council in the United Kingdom for prematurely allocating funds
to Biobank before questions over the project's value and
methodology have been addressed.17 In addition, the Committee alleges
that “the scientific case for Biobank [was] put together
by the funders to support a politically driven project.”18 The real debate in the United
Kingdom over Biobank appears to have just begun.
If Canada wishes to pursue successful large-scale population
genetic initiatives, it must heed these
warnings.
“Biobank” Defined
In the previously commissioned works, and for purposes of this
paper, a biobank is defined as a collection of physical
specimens from which DNA can be derived, the data that have been
derived from DNA samples, or both.
Population genetic biobanks may be classified according to:
Population genetic research generally requires a biologic sample
(frequently a blood sample or a buccal swab) from which the
individual's genotype data are derived. Once these data
are derived, they are stored in a database as “sequence
data” and may also be linked to associated health
information. In Canada, as in the United Kingdom, Iceland and
Estonia, the linkage to health information would necessarily be
facilitated by, and through, the publicly funded health care
system.
The ethics of collection and storage of data and tissue in
“biobanks” are frequently discussed in association
with population genetic research. It should be recognized,
however, that permanent or temporary collections of tissue are
frequently established and maintained through of day-to-day
clinical practice. For example human biologic materials are
frequently obtained during diagnostic interventions or surgeries
or where tissue or other material is obtained to determine the
nature and extent of a disease. Where diseased tissue is removed
after the diagnosis or treatment has been completed, a portion
of the specimen is frequently retained — for future
clinical, research, and/or legal purposes.19 In addition, volunteers may donate
their bodies, organs, blood or other biologic materials for
educational purposes, transplantation or research.
The specimens procured may be stored in a variety of forms
including slides, paraffin blocks, formalin-fixed specimens,
tissue culture or extracted DNA. Biologic samples may be stored
in clinical or research laboratories or in specialized tissue
banks or DNA banks that operate to provide samples to public and
private laboratories for both clinical and research purposes.
While it is often important for routine clinical care that
physicians have access to these stored samples, there are
concerns about whether or not, and in what circumstances,
existing specimens may be used for research purposes. The
concern arises because the consent obtained at the time of the
initial collection may not have specifically referred to future
research. The issues surrounding the collection, storage and use
of human biological material obtained by researchers and by
clinicians are frequently treated as discrete and separate,
despite the inevitable overlap of clinical practice and research
use.
It is important to note that prospectively created biobanks
— like the one Canada is currently considering —
will be less problematic than retrospective ones because
participants can be appropriately informed about the uses to
which their biological samples may be put; they can therefore
consent to or refuse such uses. Having said this, there remains
significant uncertainty about whether, or to what degree,
patients can legally and ethically consent to unforeseen future
uses of their biologic materials and associated data.20 There is also uncertainty as to
the legality of parental consent in the research setting. This
paper focusses on the issues relevant to prospectively collected
population genetic biobanks that will be used for translational
and basic science research, as well as for clinical research. It
is presumed that the collection would be of a permanent nature.
-
Overview of Previously Commissioned Works
-
Survey of National Approaches to the Development
of Population Genetic Biobanks, by Mylène
Deschênes and Geneviève Cardinal
In this paper, Mylène Deschênes and
Geneviève Cardinal consider various population
genetic biobanks that have been developed around the
world. Examples cited include CARTaGENE (Quebec), the
Estonian Gene Bank, the Icelandic Health Sector Database
(deCODE Genetics), Tonga (Autogen Ltd.), UK Biobank and
the International Consortium's Genetic Variation
Mapping Project (HAPMAP).21 These projects represent a
range of models that Canada may consider in planning
population genetic research. For present purposes, this
paper focusses on a smaller subset of the broader group of
population studies examined by Deschênes and
Cardinal, namely, the Icelandic Health Sector Database,
the Estonian Genome Project and UK Biobank.
These particular initiatives are important because of the
nature of the studies, the volume of information that
exists about them, and what they reveal about the specific
issues that must be addressed by Canadian policy makers.
In this analysis, Deschênes and Cardinal identify
nine major themes for Canada to consider with respect to
biobanking. The substantive conclusions respecting each
theme are summarized in the table below:
Table 2 –
Nine Major Themes for Canada to Consider in Developing
a Biobanking Policy
Theme
|
Key Points
|
Consultation
(pp. 8–10)
|
-
Fair and effective public consultation must
occur prior to the initiation of any
population genetic research.
|
Recruitment
(pp. 10–12)
|
-
Recruitment strategies are important and must
seek to take into account the need to:
-
maintain individual autonomy, privacy
and confidentiality in the recruitment
process
-
ensure a fair distribution of risks and
benefits among individuals in the
subject population
-
ensure that the recruited subjects are
representative of the overall
population.
-
Recruitment strategies must be culturally
sensitive and background information easy to
understand. This means that multiple
translations of information may be required.
-
In Canada, legitimate access to information
held by a private or public institution could
be obtained through mechanisms foreseen in
privacy legislation; because of the variations
in provincial legislation, a cautious review
of jurisdictional requirements is needed.
|
Consent
(pp. 12–17)
|
-
Individual informed consent must be obtained
to collect, to store and to use DNA samples
and personal data in a population biobank.
-
Consent forms should be adapted to reflect the
benefits and risks for the population as well
as the individual and should also address the
issue of population benefit sharing.
-
“Group consent” is neither
practical nor desirable in the context of
population genetic research.
-
Public consultation should be undertaken and
the opinion of the public should be properly
considered if Canada intends to embark on a
large-scale population genetic initiative.
|
Governance
(pp. 17–22)
|
-
At present, there exists no coherent legal and
ethical framework to accommodate the
peculiarities of biobanking.
-
Biobanks, though traditionally conceived of as
pure research and therefore public sector
endeavour, are becoming increasingly mixed
with private industry.
-
The commercial aspects of biobanking must be
carefully managed so as not to undermine
public support for such endeavours.
-
A governance scheme must be transparent and
accountable and must inspire trust in all
stakeholders.
-
There is a need to create an independent
organization that would be responsible for
overseeing the overall project and
surveillance activities. Surveillance must
focus on both management and operational
issues.
-
Ethical approval and monitoring of population
genetic research should be required,
regardless of who performs the research or
where the research is performed.
-
The principles contained in the Tri-Council
Policy Statement (TCPS)22 should be
applicable equally to public and private
entities.
-
However, specific concerns have been
identified with regard to the TCPS:
-
it does not apply to privately funded
research
-
the point at which a research ethics
board should be consulted is not clear,
nor is the proper composition of such a
board
-
the longitudinal nature of population
genetic research projects requires the
development and implementation of
long-term monitoring and oversight
mechanisms, an issue not adequately
addressed by the TCPS
-
the added difficulties posed by
multi-centre trials with respect to
ethical approval and oversight must be
taken into account.
|
Commercialization
(pp. 23–26)
|
-
Potential commercial application: populations
and individual research subjects must be made
aware, during the informed consent process,
that research may lead to the development of
commercial products, the filing of patent
applications and the generation of revenue.
-
Benefit sharing: the concept of benefit
sharing stems from the notion that the human
genome is a collective and vital interest of
humankind and that the benefits and burdens of
exploiting and sustaining the resource ought
to be universally shared. Benefits should not
be construed narrowly. The HUGO Ethics
Committee Statement on Benefit Sharing states
that they may include “agreements with
individuals, families, groups, communities or
populations that foresee technology transfer,
local training, joint ventures, provision of
health care or information infrastructures,
reimbursement of costs, or the possible use of
a percentage of any royalties for humanitarian
purposes.”23
-
Freedom of access: liberal though carefully
controlled access by researchers to population
genetic data is in the best interests of
subject populations and accords with the
traditional norms of science. Exclusive
licensing of biobanks to a single or to a
select few commercial entities is ethically
and legally problematic.
-
Conflict of interest: the interests of the
subject population must be appropriately
represented in commercial transactions that
involve data derived from population genetic
research.
|
Privacy
(pp. 27–30)
|
-
Because of the highly personal and sensitive
nature of the information stored in biobanks
and associated databases and because of the
volume of the data to be amassed, very strict
physical, procedural and electronic safeguards
are required to protect the information that
is entrusted by participants to researchers:
-
biobanks must be physically protected;
the research protocol should outline the
exact storage conditions, including
security measures and access
requirements
-
access to biobanks for non-medical
research purposes (i.e., to law
enforcement agencies) should be
prohibited or participants must be made
aware of those circumstances in which
data may be released to third parties
-
access to biobank data for research
purposes should be controlled by a
guardian or custodian that does not
itself perform research and that will
ensure the required level of
confidentiality is met prior to release
of data
-
precautionary measures must be developed
for data processing and linkage between
databases
-
staff must be made aware of their
duty to protect the
privacy and confidentiality of biobank
data and that failure to carry out that
duty will result in appropriate
disciplinary action.
-
An independent authority (i.e., the Privacy
Commissioner or other mandated authority)
should play a role in supervising data
protection and ensuring compliance with
privacy laws and regulations.
-
Criminal or other sanctions may be necessary
and appropriate in circumstances of wrongful
disclosure of confidential data. Estonia and
Iceland provide harsh penalties including
fines and/or imprisonment for wrongful
disclosure of personal biobank-related
information. In Estonia, participants whose
data have been wrongfully disclosed may
request the complete destruction of their
biological samples and related information.
|
Communication of research results
(pp. 31–34)
|
-
Populations involved in large-scale genetic
research should be regularly informed of
research results. Frequent communication to
the study participants is a way to show
respect and appreciation for their efforts and
will foster mutual trust between researchers
and participants.
-
Results of population genetic research must be
communicated in a way that will encourage
understanding of the information; researchers
must avoid the adverse effects of public
disclosure of research results without full
explanations.
-
The scientific community is obliged to
participate in a dialogue concerning the
results of research – to ensure that the
results are scientifically accurate and are
understood by the populations, families and
individuals that participate in and are
affected by the research.
|
Welfare of the population
(pp. 34–37)
|
-
Thorough reflection must be undertaken on the
relative risks and benefits of population
genetic research.
-
Because population genetic research poses
risks to an entire population, it is important
that societal benefits outweigh societal
risks:
-
potential benefits of population genetic
research include health benefits,
improved population health care
strategies, the creation of a repository
of information and biological samples
that may be useful for future research,
economic benefits and collaborative
research ventures
-
potential risks of population genetic
research include adverse economic
effects, discrimination (employment,
insurance), inappropriate disclosure
and/or use of sensitive and personal
information and the possibility that
human genetic material could
inappropriately be used for human
reproductive cloning or bioterrorism.
|
Welfare of Humanity
(pp. 37–38)
|
-
The universality of the human genome and the
bioethical principles of beneficence and
justice demand the sharing of knowledge about
the human genome.
-
Scientific discoveries that depend on the
human genome should be channelled toward the
improvement of global health; benefits should
not accrue preferentially to the developed
world at the expense of the developing world.
-
Benefit-sharing mechanisms, the granting of
unrestricted access to genetic sequence data
by researchers, and mechanisms to limit
negative effects of conflicts of interest will
help to ensure that the benefits of human
population genetic research will accrue fairly
to participating populations and to the global
community.
|
-
Toward a Comprehensive Information Privacy Regime
for Research and Biobanks, by Michael Yeo
In his paper, Professor Michael Yeo paints a view of
society in which individual privacy is increasingly
“under siege from a variety of interests which may
or may not be noble and benign to greater and lesser
degrees” (p. 5). Biobanks are but one of the many
ways that personal information is collected, stored and
used (whether appropriately or inappropriately).
The fact that population genetic data are typically stored
as a searchable and permanent record means that there is
some degree of risk that the information contained in
biobanks could be used in ways that are contrary to the
interests of the individuals volunteering for the research
and to whom the data refer, or to the larger groups to
which the individuals belong.
Because the issues raised by population genetic research
and biobanks are societal in nature, they demand broad
community discussion to ensure that societal benefit
outweighs societal risk. These discussions must be
resolved prior to the initiation of a population-based
biobank and must serve to ensure that there is a
measurable balance struck that will ensure transparency
and accountability (p. 3). Though many of the putative
risks associated with biobanks are indirect and
speculative, they are probably real and must be taken
seriously, and the broadest concerns of the public must be
considered. That said, the growing corpus of provincial
privacy legislation dealing specifically with health
information attests to the fact that privacy is an issue
of significant concern in Canadian society. Cutbacks to
government funding of health care, in combination with
increased demands for access to data, are creating
additional challenges to the system. Despite this, the
need for highly sophisticated and secure linkages between
biobanks and publicly collected health information must
not be underestimated.
Yeo places health professionals and medical researchers in
the general category of the many who seek access to
information. He notes that they acknowledge the value of
privacy protection of personal health information, yet
argue that their specific use of protected information
should be treated as an exception to the general rule.
They accept that privacy is important, but justify their
proposed use as being “very important” and
clearly “in the public interest” (p. 5, citing
Freeman and Robbins). Some expect their uses to be
exempted from the consent requirement; most expect that
any requirements imposed will not unduly impede access to
the information they seek. Medical researchers are
unlikely to view themselves in the broader context of the
many others with competing (and virtually identical)
arguments to obtain access to information.
With respect to the various interpretations of privacy,
Yeo notes that there is no single definition that captures
all that the concept of privacy encompasses. He describes
privacy as an “essentially contested concept,”
providing a number of examples (at p. 21). Definitions of
privacy provided by Yeo include:
-
“The right to be let alone.” (Warren and
Brandeis, 1890)
-
“The claim of individuals, groups or
institutions to determine for themselves when, how,
and to what extent information about them is
communicated to others.” (Alan Westin, 1984)
-
“The extent to which we are known to others,
the extent to which others have physical access to
us, and the extent to which we are the subject of
others' attention.” (Gavison, 1984)
-
“The control we have over information about
ourselves.” (Fried, 1984)
Yeo notes that there are numerous concepts related to and
overlapping with the concept of privacy, including
ownership, autonomy, dignity, trespass, intrusion,
intimacy, anonymity, secrecy, security, solitude and
inviolate personality (p. 21). It can be argued that
genetic information encompasses many of these; however, it
can also be argued that these data transcend this list
because they are related not only to the individual from
whom they were obtained, but also to his or her family, as
well as to the broader community or communities to which
the individual belongs. Significantly, Yeo notes:
Because the concept of privacy is as rich, evocative
and amorphous as it is, it serves as a kind of magnet for
anxieties and concerns about rapid social and
technological change that are fuzzy and hard to
articulate. Its evocativeness and amorphousness is no
doubt a detriment in some respects, but can also be seen
as a virtue to the extent that it enables voice for
worries that otherwise might not find a name or
expression. (p. 23)
Because the sense of self varies considerably from culture
to culture, differences between groups must also be taken
into account when considering the impact of population
genetic research. For example, Dr. Frank Dukepoo, an
aboriginal geneticist, has stated:
To us, any part of ourselves is sacred. Scientists say
it's just DNA. For an Indian, it is not just DNA,
it's part of a person, it is sacred, with deep
religious significance. It is part of the essence of a
person. (Yeo, p. 10)
In recognition of the fundamental tension that exists
between privacy and research, Yeo examines emerging
developments in research and biobanking from the
perspective of privacy. He attempts to create a framework
within which one can “identify, discuss and debate
privacy-related issues and concerns.” What emerges
is a recognition that privacy has several different
meanings and encompasses a variety of values. Because of
this, individuals will have differing views as to the
proper balance between strict privacy and the free sharing
of genetic data and health information to facilitate
medical research. Yeo elaborates on two main perspectives
on privacy: self-determination and benign stewardship. He
suggests that both perspectives must be taken into account
in the development of an accountable regulatory framework
that will protect privacy. Table 3 provides a summary
of these two perspectives.
Table 3 –
Summary of the Principles and Ideologies to Consider in
Developing a Comprehensive Regulatory Framework for
Biobanking in Canada
Fair Information Principles
|
Accountability
Identifying Purposes
Consent
Limiting Collection
Limiting Use, Disclosure and Retention
|
Accuracy
Safeguards
Openness
Individual Access
Challenging Compliance
|
Self-determination
Liberalism
Deontology
Autonomy
Rights
Consent-based
Accountability
|
Benign Stewardship
Communitarianism
Utilitarianism
Beneficence
Non-maleficence
Utility
Safeguards
|
Self-determination Frame
-
The individual has a right to control the
collection, use, and access to his or her
personal information.
-
The individual also has a right to know:
-
who else may obtain access
-
circumstances in which information may
be collected, used, accessed or
disclosed without authorization
-
potential harms that may accrue if
information is disclosed
-
the practices and policies of the data
steward
-
safeguards that are in place to address
the risks.
-
Individuals have the right to participate as
citizens in a free and democratic society and
not merely as “data subjects.”
-
Accountability
|
Safeguarding Frame
-
Protocols in place to authorize information
use and mechanisms to ensure that information
flows as authorized
-
Confidentiality agreements, oaths and promises
elicited from those with access to
information; penalties against unauthorized
use or access
-
Training of information users and other
persons who are part of the regime with
respect to protocols, roles and
responsibilities
-
Security measures, including locks, passwords,
encryption, firewalls, etc. to prevent
unauthorized users from accessing information
-
Incorporation of privacy enhancing
technologies such as audit trails
-
Procedures for anonymizing, deidentifying or
coding information
-
Internal policy standards that are
appropriately communicated and publicized
-
External regulatory standards (law, policy,
professional codes) to which the steward can
be held accountable
-
Institutional privacy officers or committees
to monitor compliance with organizational
policy and external regulatory standards
-
Independent, external oversight bodies (e.g.,
privacy commissioner)
-
Proxy bodies (e.g., ethics committees or
community panels) standing in the place of
individuals and communities whose information
is being held in trust.
-
Privacy impact assessments to map data flow
and to assess safeguards and policies to
enable the steward to perfect the information
regime and to promote transparency
-
Accountability
|
Comprehensive Regulatory Framework
|
A comprehensive regulatory framework for privacy will, of
necessity, include provisions addressing the two main
sorts of issues. For example, while a volunteer may have
the right to withdraw from participation and may request
to have his or her biologic sample and associated data
destroyed, there are corollary safeguarding provisions
that must be in place to make withdrawal possible. Yeo
creates a compelling argument that any privacy policy that
attempts to define the rights and responsibilities
associated with genetic information and biobanks must seek
to integrate the principles enshrined in both
perspectives.
The risks associated with biobank research and the
responsibilities incumbent on the researcher may be
abstracted from Yeo's paper and are summarized in
Table 4.
Table 4 –
Risks and Responsibilities Associated with Population
Genetic Research
Risk
|
Responsibility
|
-
Adverse societal effects
-
Loss of individual privacy
-
Potential breadth of research questions
-
Scale of project
|
-
Need for public consultation
-
Need for: transparency, accountability and
reassessment of the current governance
framework
-
Need to consider impact on informed consent
norms
-
Need to explore public funding and innovation
strategies
|
In summary, Professor Yeo reaches the following
conclusions:
-
Large-scale biobanks are more akin to business
organizations than to research structures as
traditionally conceived, and the existing legal and
ethical framework that governs research is not
adequate.
-
Biobanking and applied genetics research differ
significantly from other research endeavours that
involve human subjects. These differences warrant
amendments to the current legal and ethical regime
or require the development of a separate regulatory
regime. Specifically, in Canada, consent issues are
not adequately addressed in the existing regulatory
framework.
-
Biobanking requires the development of an
accountable regulatory framework that incorporates
the legal and ethical norms governing human subject
research and the evolving ethical norms of corporate
governance.
-
Whose Genes, Who's Safe, How Safe?
Publics' and Professionals' Views of Biobanks,
by Edna Einsiedel
Professor Edna Einsiedel's paper seeks to identify
the views of the publics and of professionals that are
relevant to genetic technologies generally, and to
biobanks in particular. The data presented in this paper
are derived largely from papers published in peerreviewed
journals (predominantly Science and Nature) or
from published reports that have emerged as a result of
the development of the Icelandic Health Sector Database
and UK Biobank. Einsiedel's paper is composed of two
distinct parts. The first focusses on the views of the
general public and advocacy organizations; these groups
comprise the “unorganized public.” The second
part of the paper concerns the views of professionals, who
are defined to include geneticists, genetic researchers,
genetic counselors, research coordinators, members of
research ethics boards or institutional review boards,
physicians, ethicists, legal experts and epidemiologists.
Table 5 lists specific issues that are considered by
Einsiedel with respect to public and professional
perspectives.
Table 5 –
Public and Professional Perspectives Relating to
Biobanks: Summary of Issues Considered
Perspective of the Publics
|
Perspective of Professionals
|
-
Public awareness and understanding
-
The need for more information
-
The role of the media
-
Recruitment and participation
-
Informed consent
-
Feedback
-
Confidentiality
-
Ownership and control of databases
-
Commercialization of genetic information
-
Human rights issues
|
-
Informed consent
-
Consent to future uses
-
Confidentiality and privacy
-
Feedback
-
Human rights issues
-
Individual rights versus community rights
-
Commodification of the human body
-
Questions of identity
-
Reductionism
-
Concerns of professionals:
-
commercialization
-
non-research use of databases
-
governance issues
|
Specific data have been extracted from Einsiedel's
paper and incorporated into topical summary tables in the
relevant subsections of Section 4 of this paper.
While providing a comprehensive collection of snapshots of
publics' and professionals' views on specific
issues from the international perspective that are useful
to consider, Professor Einsiedel notes that it is critical
that Canada endeavour to gain an understanding of the
issues from the Canadian perspective. Canada is a large,
geographically diverse territory with a diverse
population, but within this larger heterogeneous community
there are small homogenous subpopulations (i.e., French
Canadians, Newfoundlanders and various aboriginal
communities). Disparities in local needs and interests
must be well understood if Canada is to embark on
successful large-scale population genetic initiatives. In
summary, Professor Einsiedel concludes that:
-
If publics are to be meaningfully engaged in debates
about genetic technologies, they need to be able to:
-
Public education initiatives must provide genuine
opportunities for engagement and deliberation and
permit individuals to reach an informed opinion
about the issues.
-
“Meaningful dialogue” (i.e., that which
is “mutually informative, thoughtful, honest,
and carries the possibility of being mutually
transformative”) should be fostered between
scientists, other stakeholders and the public (p.
41, citing McLean, 2001).
-
Canada may wish to consider developing a
communication plan similar to that recommended by
the Centers for Disease Control in the U.S. to
“assess information needs of various
audiences, develop messages, and select media for
disseminating information about genetics and public
health. Use the Internet as one distribution
mechanism. These activities will ensure that the
dissemination of information is coordinated,
accurate and timely” (p. 40).
-
Public engagement is a critical requirement
before Canada embarks on a
large-scale population genetic research initiative:
meaningful public involvement demands posing the
question of whether such a venture is worthwhile and
is an appropriate use of public funds (p. 42).
-
For individuals to make an informed decision about
whether to participate in a large-scale population
genetics initiative, they must have information
regarding the purpose(s) of the research, the
conditions for maintaining privacy and
confidentiality, consent conditions for future
access and/or secondary uses of the data, conditions
for storage and maintenance, oversight mechanisms,
and the potential for commercialization (p. 42).
-
Because the implications of population genetics
research are far-reaching, it is important that if
Canada opts to develop a large-scale initiative (or
initiatives), the governance framework should
include an independent oversight committee with
public representation (p. 42).
-
There may be a role for a national standing
oversight panel (research ethics board) to review
and monitor biobank research, keep track of the
project history, develop and maintain periodic
reports, serve as a resource for ethical, legal and
social issues and provide a forum for ongoing
national discussion (p. 44, citing Martin, 2001).
-
New Developments
-
United Kingdom House of Commons Science and
Technology Committee Report
On March 25, 2003, the United Kingdom House of
Commons Science and Technology Committee released its
report titled “The Work of the Medical Research
Council.”24
Although the report is based on an evaluation of the scope
of work of the Medical Research Council (MRC), it is
devoted in large part to the Biobank project. The report
alleges that, within the MRC, there is generally evidence
of poor financial management, poor planning and too many
funds being committed over too long periods, leading to
large numbers of topquality grant proposals being turned
down. In this report, the MRC is accused of implementing
misguided strategies for its research support that have
resulted in discrimination against young researchers and
some disciplines.
The committee specifically alleges that UK Biobank is a
“politically driven project”25 that was established without
full confidence of the research community and the public.
In fact, the committee alleges that funds (including a
45-million-pound grant from the MRC were allocated to the
project before the scientific questions over its value and
methodology were fully addressed26 and that consultation for
Biobank was “a bolt-on activity to secure widespread
support rather than a genuine attempt to build a consensus
on the project's aims and methods.”27 UK Biobank is described as a
top-down initiative, the merits of which have not been
properly balanced against other potential funding options.
The United Kingdom government responded to the
committee's criticisms in June 2003.28 In essence, while
recognizing the challenges facing the MRC and the general
need to improve in the areas of financial management,
long-term planning, evaluation and communications, the
government defended the MRC's research strategies on
the basis that they were developed by the MRC in
consultation with a broad range of organizations.
Specific criticisms levied by the committee with respect
to UK Biobank and the government responses to those
criticisms are appended to this paper (see Appendix B). In addition, specific issues are
highlighted in the relevant subsections of Section 4 of
this paper.
-
DNA Sciences Inc. Sale of the Gene Trust to
Genaissance Pharmaceuticals
In recent years, the United States has seen an emergence
in the development of commercial biobanks that operate to
meet the need growing need for human tissue, DNA and
associated data in the public and private sectors.29 Detractors are concerned
about the ethical appropriateness of the free-market
approach in this field30 and about the lack of
protection for human research participants in the United
States.31 Gaps in the
federal regulatory system effectively make federal
research guidelines inapplicable to privately funded
research or commercial endeavours.32
Whether private or public entities are involved in
commercial biobanking, there are real opportunities for
approaches that are antithetical to modern ethical
standards. One news report describes the sale of neonatal
blood samples by the South Carolina state government to a
private company for use in the development of genetic
testing kits and also to the law enforcement division for
baseline studies of DNA markers.33
Without the use of specific legal protections, commercial
biobanks may be unable to adequately protect the interests
of biobank participants. The sale of DNA Sciences Inc.
reveals that this may be especially true in times of
financial hardship or when bankruptcy proceedings are
commenced.
DNA Sciences, Inc.,34
now defunct, was an applied genetics company based in
California that focussed its business development on the
discovery and commercialization of DNA-based diagnostic
tests. By creating the Gene Trust,35 DNA Sciences Inc. sought to
establish a database of information about individuals that
included physical characteristics, health histories and
ongoing data concerning medical treatment and
effectiveness. To facilitate its work, DNA Sciences
utilized the Internet to attract Gene Trust volunteers who
were asked to provide contact information and a personal
family health history. If found to be an appropriate
volunteer, informed consent was elicited and a blood
sample was obtained and analyzed.36 The DNA Sciences Web site
reported that more than 10 000 participants from all 50
states were registered in the Gene Trust.37
As part of the recruitment strategy, the “Gene Trust
Bill of Rights”38
assured participants that personally identifying genetic
information would never be sold or shared with anyone
outside the Gene Trust; once collected, information was to
be made anonymous and the Gene Trust researchers would use
anonymous data only. Genetic information would never be
supplied to employers or insurance companies, human
cloning would not be undertaken and DNA Sciences would not
be associated with any such practices. Participants were
free to withdraw at any time, for any reason and without
penalty. 39
DNA Sciences assured participants that personally
identifying information would never be shared “with
any person or entity outside DNA Sciences without your
express consent, unless legally required to do
so.” 40 The
privacy statement is laudable but likely irrelevant in
light of the fact that the consent form signed by
participants contained a provision permitting DNA Sciences
to transfer samples and anonymized medical data to a third
party.41 On
May 15, 2003, Genaissance Pharmaceuticals announced
that it had entered into an agreement to acquire
substantially all of the assets of DNA Sciences.42 This agreement includes the
Gene Trust DNA samples, the anonymized medical history
data, and the computer systems that hold personally
identifying data on the Gene Trust donors.43 At this time, Genaissance
Pharmaceuticals does not intend to continue the Gene
Trust. The situation, however, raises many legal and
ethical questions that must be considered by Canadian
policy makers.
In Canada, corporate entities could be used as vehicles to
“own” public biobanks. The possibility that
the corporation could go bankrupt or would be wound up
must be considered at the outset to ensure that human
biological samples, DNA sequence data, medical history
data and other personal information will not be
inappropriately “sold off” to a third party.
As part of this framework, a legal trust could be employed
to protect a biobank from falling into a
corporation's general asset pool and sold off. The
biobank could, in essence, be held by the corporation in
trust for (i.e., for benefit of) the participants whose
data are held in the biobank. In Canada, issues of
corporate governance need to be further explored in
relation to biobanks.
-
Public Opinion Research into Biotechnology Issues
– Eighth Wave
Since 1999, the Government of Canada's Canadian
Biotechnology Secretariat and its partners have maintained
a large-scale program of public opinion research involving
10 public opinion surveys and more than 75 groups. These
studies represent North America's largest and most
comprehensive investigation into attitudes about
biotechnology and the public policy that surrounds it. The
program is designed to produce two waves of research each
year, with a large tracking component and chapters of more
intensive inquiry into specific issues like “genetic
privacy.” Results have been remarkably consistent
since the inception of the research program.
The eighth wave of research, completed in March 2003,
represents a cross-national study of attitudes toward
biotechnology in Canada and the United States. Released in
August 2003, the research is based on telephone
surveys of 1000 Americans and 600 Canadians
using a single questionnaire. The survey was designed to
meet two main objectives:
-
track public sentiment on a range of biotech issues
in the Canada, using a baseline of data developed in
previous waves of research
-
compare attitudes among Americans and Canadians.
This survey is of interest because it specifically asks
several questions with respect to DNA mapping and the
patenting of genes. Specifically, Canadians are described
as “cautiously supportive of progress and of
science.” Seventy-eight percent of Canadians
see more benefits than drawbacks in the areas of DNA
mapping. Approximately half are uncomfortable with the
idea of patenting in the area of biotechnology. Results of
this survey are incorporated into the relevant subsections
of Section 4 of this paper.
-
Public Opinion Research into Genetic Privacy
Issues
POLLARA Inc. and Earnscliffe Research and Communications
jointly performed surveys and hosted two focus groups to
elicit public opinion on privacy issues associated with
genetic information in February and March 2003. The
results of this research were released in
August 2003. The study is important because it helps
to put into context the findings presented by Edna
Einsiedel, and it deals specifically with issues
surrounding biobanks.
The survey reveals, not surprisingly, that “[t]he
concept of biobanks is not yet fully formed in the
[Canadian] public mind” (p. 10). In summary, the
survey reached the following conclusions:
-
People do not understand how population health or
genetic studies are conducted.
-
People are increasingly aware of research strategies
to trace genetic histories through families and to
gather data from related people.
-
People think of biobanks in terms of information and
not in terms of physical samples.
-
People have difficulty contemplating the collection
and storage of large volumes of genetic information.
-
People have no idea whether biobanks are prevalent
or who might be administering them.
-
People presume the regulations governing biobanks
would tend to be relatively lax, largely because
biobanking is a new phenomenon. (pp. 10–11)
Results of this survey are incorporated into the relevant
subsections of Section 4 of this paper.
-
Discussion: Major Issues for Canada to Consider Re
Biobanking Policy
This discussion provides a synthesis of the major ideas gleaned
from the previously commissioned works. The subsections on
privacy and confidentiality depend heavily upon multiple
external sources. The following issues are addressed here:
-
consultation, education and the role of the media
-
recruitment
-
privacy and confidentiality
-
informed consent and communication of research results
-
commercialization
-
governance issues.
-
Consultation, Education and the Role of the
Media
Authors of the previously commissioned papers have
unanimously concluded that prior public consultation is a
necessary first step if Canada is to be committed to the
idea of initiating a large-scale national biobank project
(Deschênes and Cardinal, p. 10; Einsiedel, p.
44–45; Yeo, p. 58). Successful population genetic
research depends directly on public goodwill and trust.
The processes of implementation must therefore be based on
transparency, public discussion and genuine debate
(Deschênes and Cardinal, p. 8). Consultation is
important for a number of reasons, not least of which is
that it may help to uncover specific weaknesses inherent
in the proposed study design, particularly those elements
that, if not corrected, will undermine effective
communication between researchers and the subject
population and the population more broadly. In addition,
although not part of the informed consent process,
consultation will enable thoughtful reflection by
potential research participants and the broader community
on relevant issues and will facilitate a more robust
informed consent than would otherwise be possible.
Consultation has the potential to open a meaningful
dialogue between the research participants and the
research team and to facilitate meaningful democratic
participation of citizens.
Einsiedel notes that the development of the Icelandic
health sector database set off an international debate
over issues relating to genetic information and biobanks
(p. 7) and that, largely as a result of the Icelandic
controversy, UK Biobank was conceived by the MRC and the
Wellcome Trust with the specific intent of proactively
understanding and responding to stakeholder concerns.
Accordingly, a number of consultation studies were
commissioned and reports published.44
Despite these consultative efforts, a recent report of the
United Kingdom House of Commons Science and Technology
Committee45 harshly
criticizes the consultation process employed by the MRC
(see also Yeo, pp. 57–58). In light of this
criticism, careful consideration must be given to the
development of consultative strategies that will yield
information that will impact project planning, that will
engender a collaborative relationship between researchers
and the population and will not be viewed as a means to
further a political agenda (Deschênes and Cardinal,
p. 10). If executed in bad faith or if poorly performed,
consultation will inevitably undermine trust between the
numerous publics, the scientific community and policy
makers.
To be effective, consultation must be broadly reflective
of stakeholder concerns. A nonexhaustive list of
stakeholders in the context of biobanking includes: the
participants (and their relatives or fellow
“group” members), the researchers and the
research community, health care providers, agencies that
fund research, regulating bodies, other users of data,
special interest groups and the media.46 Yeo concurs with the
recommendation of Quebec's Commission de
l'ethique de la science et de la technologie that
“all population genetic databases for mapping a
population's genes or conducting research on
population genetics first be submitted to an informed
public to actively involve them in the decision-making
process” (Yeo, p. 56). Table 6 provides a
summary of various public consultation strategies that
Canada may wish to employ.
Table 6 –
Public Consultation Mechanisms
Approach
|
Strengths
|
Inadequacies
|
Public opinion surveys
|
|
-
Superficial coverage of issues
|
Focus groups
|
-
In-depth exploration of reasoning, bases for
preferences
|
|
Deliberative consultation
|
-
Learning opportunities for lay and expert
panels
-
Interactions with experts, more extensive
deliberation
|
-
Time and resource intensive
-
Fewer individuals involved
|
Stakeholder consultation
|
-
Stakeholders' familiarity with issues
-
Involvement of those with direct benefits or
risks
|
-
Exclusion of general public
|
Community consultation
|
-
Critical where collectivity is highly valued
|
-
Challenge to determine who should represent
the community
|
Web-based consultation
|
-
Larger numbers participating
-
Quick and ongoing information sharing
|
-
Individuals selected by technological
ability/access/prejudice
-
Data may not be generalizable
|
Lay representation on expert committees
|
-
Broadened base for considering issues beyond
technical considerations
|
-
Lay member opinions may be marginalized by
expert members
|
If publics (and other stakeholders) are to participate in
a meaningful way in decisions that affect them, they must
have access to adequate information upon which their
deliberation and the decision-making process can be based.
The degree to which publics are knowledgeable about
certain topics is variable and is dependent on many
factors (Einsiedel, p. 10). People may or may not be well
informed about a given issue for a number of reasons. They
may be passively or actively disinterested: they may be
too busy or have no interest or they may decide not to
learn about a particular topic. Importantly, disinterest
is not necessarily reflective of negative sentiment.
People may be misinformed about an issue due to incorrect
or exaggerated information in the popular media. Although
the scientific community cannot control the way in which
popular media report scientific progress, it can be aware
of the importance of the popular media in conveying
information to the public. Scientists must consider it
their obligation to accurately portray scientific
developments to the media and to avoid promoting overly
hyped representations of their work. The media should work
closely with the scientific community to ensure accuracy
and objectivity in their reporting.
Because of the likelihood that publics are currently
uninformed or misinformed about genetic technologies,
meaningful consultation must depend on engaging and
enabling a sufficiently large number of individuals to
consider relevant issues once they are provided an
appropriate knowledge base.
Canadian funding agencies and/or private partners must
accept that public consultation is an essential part of
the overall Biobank initiative. Funding requirements for
consultation must be budgeted appropriately and considered
as part of the overall project strategy (Deschênes
and Cardinal, p. 10).
Summary: Consultation, Education and the Role of
the Media
-
Public education and consultation are necessary
first steps if Canada is to be committed to the idea
of initiating a large-scale population genetics
initiative.
-
The consultative process should begin as early as
possible in the development of any proposed
initiative and should continue for the duration of
the initiative.
-
The consultative process must be transparent.
-
Negative outcomes arising from consultation must be
acknowledged and clearly and honestly addressed as
they are identified.
-
To enhance the value of public consultation, several
consultative mechanisms should be employed. A
variety of critical, qualitative and quantitative
approaches will enable a comprehensive understanding
of public (and other stakeholder) sentiment.
-
Consultative strategies must incorporate an
educational component that will provide a
sufficiently detailed knowledge base upon which
informed decisions can be based.
-
Consultation may be useful in determining how best
to convey the concepts of risk and uncertainty to
various publics.
-
Consultative strategies must be developed to examine
the long-term influence of mass media coverage of
genetic technologies on biobanking as well as the
tools introduced to engage in community-wide
consultation to address the issues raised by popular
media coverage.
-
Recruitment
It is an ethical requirement for the scientific validity
and the design of proposed population genetic research to
be well founded.47
Participants in population genetic research must be
selected by methods that are supported by scientific,
legal and ethical imperatives (Deschênes and
Cardinal, p. 10). For example, procedures employed in the
recruitment of individuals for research protocols must
respect the privacy and confidentiality of the persons
(and relatives of those persons) that comprise the
potential cohort, and the procedures must be in accordance
with privacy legislation within that jurisdiction. In
addition, there is a need to ensure that particular
segments of the population will not reap unfair benefits
nor be unfairly burdened as a result of participating in
population genetics research.
The use of personal data to recruit research participants
falls under privacy legislation (Deschênes and
Cardinal, p. 12). Canadian privacy legislation, at both
the federal and provincial levels, generally foresees
mechanisms whereby nominative data may be accessed for
research without consent if certain conditions are met
(for a more detailed discussion, see Section 4.4 of this
paper). In the interest of privacy protection, mechanisms
for recruitment could be developed wherein participants
are notified of the study by provincial health ministries,
national bodies responsible for the protection of personal
data (e.g., Ombudsman or Privacy Commissioner) or other
appropriate institution (e.g., the Canadian Institutes of
Health Research). Participants could then be recruited
through their general practitioners, medical specialists,
or other health care providers. Mechanisms for recruitment
that are specifically referable to Canada's health
system and the behaviour of patients within the system
must be developed.
To ensure that population genetic research will be
representative of the overall population, various
strategies are recommended. One possibility is the
development of a national information campaign to inform
the public about population genetics research, including
the objectives of the study, the risks and benefits of the
research (to the individuals and to society) and proposed
safeguards to maintain data security. A national campaign
may be coupled with the development of local recruitment
strategies to ensure that individuals who are eligible to
participate have an opportunity to do so and have
information on how to earn more about the project. Local
strategies may be developed to endeavour to include
individuals from disadvantaged groups (e.g., the
low-income population) and individuals living in rural
areas. Communication strategies are key and should also be
used to reach those whose first language is not English or
French.
Professor Einsiedel notes that the public's
willingness to participate in research appears to be
mediated by the nature and quality of the information
individuals have and how much trust is placed in the
medical profession and governing institutions as well as
the laws in place to protect them (p. 20, citing Cragg,
Ross and Davis, 2000). Individuals are not likely to
participate if they are concerned that information
obtained about them can be accessed by employers,
insurance companies or the police. People are inclined to
participate in clinical research if they think their
participation will help others and if participation is not
too onerous (p. 21).
Summary: Recruitment
-
The scientific validity and study design must be
well founded prior to recruitment of participants in
population genetics research.
-
Methods of recruiting participants must be supported
on scientific, legal and ethical grounds.
-
Mechanisms for recruitment that are specifically
referable to Canada's health system and the
behaviour of patients within the system must be
developed.
-
Recruiting strategies must take into account the
need to fairly distribute the benefits and burdens
of population genetics research to the entire
population.
-
Meaningful public consultation, genuine debate and
educational strategies are likely to maximize
willingness to participate in population genetic
research.
-
The development of a non-coercive national
communication and education strategy will help
ensure that population genetics research will be
representative of and applicable to the entire
population.
-
Local communication and recruitment strategies
should be developed to take into account regional
differences and to include participants from all
segments of society, including groups that have been
traditionally disadvantaged (e.g., the poor,
aboriginal communities).
-
Participation in population genetic research may be
maximized if individuals are assured that they will
be recontacted if information is discovered that is
relevant to their health status. Enhanced
participation based on recontact must be weighed
cautiously against the additional burdens in terms
of cost, liability, etc. that would arise from such
a promise.
-
To maximize a population's willingness to
participate in population genetics research,
assurances should be made that the data collected
will be accessible to researchers only for certain
clearly defined health-related purposes. For
example, participants should be assured that data
contained in a population genetic biobank are not
accessible to third parties for non-health-related
purposes (e.g., law enforcement).
-
Privacy and Confidentiality
Privacy
Privacy and confidentiality have frequently been treated
as a single concept with interchangeable descriptions.
Though closely related, the concepts are distinct. The
right to privacy gives an individual the right to control
who has access to his or her personal information. For
example, individuals have a right to decide whether or not
they wish to participate in population genetics research
and whether or not to give researchers access to
biological samples, associated genetic sequence data
derived from the biological samples, personal demographic
information, personal health information and genealogical
data. Once an individual agrees to participate in research
and once information is disclosed to the researcher, the
researcher is obligated — both legally and ethically
— not to disclose the information to others without
permission from the participant. The very nature of DNA
makes it uniquely sensitive (Deschênes and Cardinal,
p. 27). Concerns exist, for example, that employers,
insurance companies or law enforcement agencies might
obtain and misuse genetic information (Einsiedel, p. 13,
citing Canadian Medical Association). Interestingly, most
Canadians (more than 90 percent) view genetic
information differently from other types of personal
information and would like to see stricter rules governing
it (Einsiedel, p. 13, citing Pollara and Earnscliffe). In
particular, 70 percent of Canadians think that
legislation to protect the privacy of health information
should apply to both the private and public sectors
(Einsiedel, p. 16, citing Canadian Medical Association).
Privacy, once described simply as “the right to be
let alone,”48 has
matured into a concept that is focussed on preservation of
an individual's dignity and autonomy;49 it is viewed as a core human
value (for a discussion of definitions, see Yeo, p.
21–23). The notion of privacy includes the right to
control the disclosure, dissemination and use of personal
information about oneself. With respect to health
information these rights are protected by rules of
professional conduct, the common law, the Canadian Charter
of Rights and Freedoms,50 and numerous statutes, both
federal and provincial, as well as international treaties,
conventions, declaratory statements and ethical
guidelines.51
Canadian courts have recognized that an individual's
“right to security of the person” within the
meaning of section 7 of the Canadian Charter of
Rights and Freedoms encompasses both the physical and
psychological integrity of the individual.52 It follows that
section 7 includes the right to be free from
psychological stress that would result from the
unauthorized disclosure of one's personal health
information.53
Additionally, section 8 of the Charter, which deems
that individuals have the right to be secure against
unreasonable search or seizure, has been interpreted to
provide protection of an individual's privacy of
information. which in this context includes DNA, health
and demographic information. This particular right is
based on the integrity of the individual and not merely on
proprietary interests.54
Confidentiality
Patients and their families have a legitimate expectation
that confidential health information, including genetic
information, will not be disclosed to third parties
without permission. This is a fundamental tenet of the
fiduciary nature of the doctor–patient
relationship.55 This
expectation is reflected in the duty imposed on health
care professionals to respect the confidentiality of all
information they obtain about their patients. The ethical
duty that underlies the legal duty is evident in the
Hippocratic Oath and in modern enunciations of it,
including the Canadian Medical Association Code of
Ethics.56 Additionally,
requirements regarding confidentiality have been placed in
legislation governing health care facilities, health care
sectors and health care professionals. There exists
legislation in every province that imposes some obligation
on health care providers to maintain patient information
as confidential.
There is also a clear common law duty to keep health
information confidential.57 While there is limited
jurisprudence in this area, there have been numerous
judicial statements that have confirmed the existence of
an equitable action for “breach of
confidence.” As such, there seems little doubt that
the handlers of health information can be found liable for
the inappropriate use or disclosure of confidential
information. For example, the 1990 Alberta Queen's
Bench decision of Hay v. University of Alberta
Hospital, described the duty of confidence as
follows:
The physician–patient relationship is clothed
with confidentiality, a right which may be waived by the
patient. Confidentiality is an important attribute of the
physician–patient relationship, essential in
promoting open communication between physician and
patient. The patient may expressly waive this right or, by
his actions, be found to have impliedly waived it.
Alternatively, an overriding public interest or a
statutory direction may justify a physician disclosing
information about the patient. In the absence of such
circumstances, the right remains and a physician who
divulges confidential information could face an action for
breach of confidentiality, a possibility which obviously
causes physicians some concern.58
The Supreme Court of Canada, in the decision of
McInerney v. MacDonald, held that certain duties
arise from the special nature of the relationship of trust
and confidence that exists between doctor and patient.
Physicians must “act with utmost good faith and
loyalty”59 in
their dealings with patients.60 By extension of these
principles, the researcher–participant relationship
would likely be determined by Canadian courts to be
fiduciary in nature.61
Exceptions to the Physician's Duty of
Confidence
While physicians and other health care professionals owe a
duty of confidence to their patients, there are
exceptions, both at common law and in statute. For
example, there are numerous legislative exceptions that
allow confidential information to be used without the
patient's consent.62 The most controversial
exception is the common law “duty to warn.”63 Pursuant to this
exception, there may be some circumstances when a
physician has a legal and ethical obligation to breach
his/her duty of confidentiality in order to protect the
health or safety of a third party. The Tarasoff v.
Regents of the University of California case is the
most commonly cited example of this duty.64 While there are only a few
Canadian decisions that explicitly refer to
Tarasoff,65
there is a growing body of case law that seems to support
the notion that physicians may, in some circumstances, owe
a duty to someone who is not a patient.66 There is also precedent that
implies a duty-to-warn exception to the duty of
confidentiality.67 More
importantly, many of the emerging provincial health
information acts codify a duty-to-warn exception.68 The Canadian Medical
Association recently modified its code of ethics to
reflect that the principle of confidentiality is not
absolute.69
The duty to warn is relevant in the context of the
collection and use of human biological samples. It has
been suggested that there may exist circumstances when a
physician has a legal obligation to warn a family member
of a patient of a potential health risk revealed through
genetic testing of the patient. Because a patient's
genetic information may be relevant to a relative (e.g.,
for decisions about reproduction or treatment options), it
has been argued that there may be a “duty to
warn” a family member about a given genetic risk or
condition.70 The
communication of information to family members at high
risk for serious harm without the consent of the research
participant should be contemplated only when all attempts
to elicit voluntary cooperation and communication of the
information by the tested individual to his or her
relatives have failed.71 Despite this trend toward
recognition of a duty to warn, it is still very unclear
when it would apply. For example, there is no consensus on
how severe the risk of harm to the third party must be in
order to trigger the duty.
Privacy Legislation in Canada
In Canada, there are numerous statutes — both
federal and provincial — that are relevant to health
information. For example, Table 7 demonstrates a
variety of key statutes that are relevant to the privacy
and confidentiality of health information in Alberta. The
complexity of the legislative framework is magnified when
one considers that the situation is similar in most
Canadian provinces.
Table 7 –
Examples of Alberta Statutes Relative to Privacy and
Confidentiality of Health Information
Health Information
|
-
Health Information Act, Bill 40, 2nd
Sess., 24th Leg., Alberta, 1999.
|
Freedom of information and protection of privacy
|
-
Freedom of Information and Protection of
Privacy Act, S.A. 1994, c. F-18.5, s.
22.03.
|
Public health
|
-
Public Health Act, S.A. 1984, c. P-27.1.
|
Health administration
|
-
Health Care Insurance Act, R.S.A.
1980, c.A-24, s. 13.
-
Health Care Insurance Regulation, AR
216/81, s. 23.
-
Hospitals Act, R.S.A. 1980, c. H-11,
s. 40.
|
Cancer
|
-
Cancer Programs Act, R.S.A. 1980, c.
C-1, Part 1.1.
-
Cancer Programs Regulation, AR 242/98
|
Freedom of information legislation applies to personal
information in the public sector and now
exists federally, provincially and in the territories.
There is new federal privacy legislation that concerns the
collection, use and disclosure of personal information in
the private sector. Numerous provinces
are currently in the process of drafting similar privacy
legislation. The effect of “substantially
similar” provincial legislation would be to pre-empt
the operation of the federal statute in the provinces with
such legislation. Numerous provinces now have specific
legislation governing the privacy of health information.
Table 8 –
Relative Coverage of Federal and Provincial Privacy
Statutes (or Bills) in Canada
Jurisdiction
|
Right of privacy
|
Criminal law
|
Tort
|
Clinical records
|
Registries statistics
|
Freedom of information, public
|
Protection of personal information, health
|
Protection of personal information, private
|
Canada
|
4
|
4
|
|
|
4
|
4
|
|
4
|
British Columbia
|
|
|
4
|
4
|
4
|
4
|
|
(4)
|
Alberta
|
|
|
|
4
|
4
|
4
|
4
|
(4)
|
Saskatchewan
|
|
|
4
|
4
|
4
|
4
|
(4)
|
|
Manitoba
|
|
|
4
|
4
|
4
|
4
|
4
|
(4)
|
Ontario
|
|
|
|
4
|
4
|
4
|
(4)
|
(4)
|
Quebec
|
4
|
|
|
4
|
4
|
4
|
|
4
|
Nova Scotia
|
|
|
|
4
|
4
|
4
|
|
|
New Brunswick
|
|
|
|
4
|
4
|
4
|
|
|
Prince Edward Island
|
|
|
|
4
|
4
|
4
|
|
|
Newfoundland and Labrador
|
|
|
4
|
|
4
|
4
|
|
|
Yukon
|
|
|
|
|
4
|
4
|
|
|
Northwest Territories
|
|
|
|
|
4
|
4
|
|
|
Nunavut
|
|
|
|
|
4
|
4
|
|
|
Appendix C provides a
province-by-province listing of statutes and bills.
Federal Personal Information Protection and
Electronic Documents Act (PIPEDA)
The federal Personal Information Protection and Electronic
Documents Act (PIPEDA)72 imposes mandatory standards
for the collection, use and disclosure of personal
information, including health information, in the
private sector. The stated purpose of
PIPEDA is:
to establish, in an era in which technology
increasingly facilitates the circulation and exchange of
information, rules to govern the collection, use and
disclosure of personal information in a manner that
recognizes the right of privacy of individuals with
respect to their personal information and the need of
organizations to collect, use or disclose personal
information for purposes that a reasonable person would
consider appropriate in the circumstances.73
Schedule 1 of PIPEDA specifically incorporates the
principles enunciated in the Canadian Standards
Association Model Code for the Protection of Personal
Information into the Act. In summary, these principles are
summarized in Table 9:
Table 9 –
Fair Information Principles as Set out in the National
Standard of Canada Titled “Model Code for the
Protection of Personal Information,”
CAN/CSA-Q830-96
Principle
|
Description
|
Accountability
|
An organization is responsible for personal
information under its control and shall designate an
individual or individuals who are accountable for
the organization's compliance with the
following principles.
|
Identifying purposes
|
The purposes for which personal information is
collected shall be identified by the organization at
or before the time the information is collected.
|
Consent
|
The knowledge and consent of the individual are
required for the collection, use or disclosure of
personal information, except where inappropriate.
|
Limiting collection
|
The collection of personal information shall be
limited to what is necessary for the purposes
identified by the organization. Information shall be
collected by fair and lawful means.
|
Limiting use, disclosure and retention
|
Personal information shall not be used or disclosed
for purposes other than those for which it was
collected, except with the consent of the individual
or as required by law. Personal information shall be
retained only as long as necessary for the
fulfilment of those purposes.
|
Accuracy
|
Personal information shall be as accurate, complete
and up-to-date as is necessary for the purposes for
which it is to be used.
|
Safeguards
|
Personal information shall be protected by security
safeguards appropriate to the sensitivity of the
information.
|
Openness
|
An organization shall make readily available to
individuals specific information about its policies
and practices relating to the management of personal
information.
|
Individual access
|
Upon request, an individual shall be informed of the
existence, use and disclosure of his or her personal
information and shall be given access to that
information. An individual shall be able to
challenge the accuracy and completeness of the
information and have it amended as appropriate.
|
Challenging compliance
|
An individual shall be able to address a challenge
concerning compliance with the above principles to
the designated individual or individuals accountable
for the organization's compliance.
|
As of January 1, 2002, PIPEDA became applicable to
personal health information but until January 1, 2004,
this remained limited to personal health information in
the federally regulated private sector and to cross-border
disclosures of such information. After January 1, 2004,
PIPEDA also applies to the health information in the
private sector. Where a province enacts its own
legislation covering the private sector and the provincial
legislation is substantially similar to PIPEDA, the
provincial law applies.
Specifically, PIPEDA contains provisions that contemplate
the use and disclosure of personal information for
research purposes.74
Personal information may be used or disclosed for research
without the subject's knowledge or consent for
purposes that cannot be achieved without using or
disclosing the information, where it is impracticable to
obtain consent, and where the organization informs the
Privacy Commissioner prior to the use or disclosure of
information. The information must, however, be used in a
way that maintains its confidentiality.
PIPEDA has been criticized for failing to recognize the
nature of health information and the special aims of
health care provision. It also fails to recognize the
pre-existing legal and ethical obligations that physicians
and researchers owe to patients and research subjects.
Additionally, it has been suggested that the fair
information principles underlying the Act do not
necessarily accord with the norms of health care
provision.
Provincial Legislation for the Protection of
Personal Information in the Private Sector
As noted above, the federal PIPEDA applies to all personal
health information collected, used or disclosed during the
course of commercial activity as of January 1, 2004.
If a province enacts its own legislation that is
“substantially similar” to PIPEDA, the
provincial legislation will apply within the province.
Quebec has had legislation in place since 1993.75 Alberta (Bill 4476) and British Columbia
(Bill 3877) have
drafted legislation that, if passed, will apply to private
sector transactions.
Many questions remain about the interaction of the federal
and provincial statutes with respect to biobanking. Which
act will properly apply? Will the provincial statutes be
deemed “substantially similar” to the federal
legislation? The many privacy laws that exist, though
conceptually similar, are not identical. The degree to
which the laws will be harmonized is yet to be seen. At
present, it appears that navigating the existing and
developing legislative framework in the context of
biobanking will be a difficult challenge. This is
particularly true considering that
“biobanking” in the context of developing a
population genetics research resource is neither strictly
public nor strictly private and it is not a typical
commercial venture.
Provincial Privacy Legislation Concerning Health
Information
A number of Canadian provinces including Alberta, Manitoba
and Saskatchewan have enacted specific legislation
concerning the privacy of health information. Such
legislation aims to:
-
establish mechanisms to protect the privacy of
individuals with respect to their health information
and to protect the confidentiality of that
information
-
enable health information to be shared and accessed
-
facilitate the provision of health services and
management of the health system
-
prescribe rules for the collection, use and
disclosure of health information
-
provide individuals with a right of access to health
information about themselves
-
provide individuals with a right to request
correction or amendment of health information about
themselves
-
establish strong and effective remedies for
contraventions of the statutes
-
provide for independent reviews of decisions made by
custodians or trustees pursuant to the acts and the
resolution of complaints.
In general, health information legislation accomplishes
these objectives by:
-
placing clear obligations on the
“custodians” of health information, with
respect to “personally identifying”
health information
-
setting rules governing the collection, use,
storage, disclosure, retention, disposal and
destruction of personal health information,
including biologic samples (see, for example,
Alberta Health Information Act s.
1(1)(i)(iii))
-
demanding that health information can be used and/or
disclosed only for the purpose or purposes for which
it was collected or for a consistent purpose
-
permitting personal health information to be used
and/or disclosed for research purposes with or
without the consent of the individual to whom the
information pertains if certain criteria are met
(see, for example, Alberta Health Information
Act s. 48–56).
Careful analysis of the federal and provincial privacy
statutes relative to biobanking is required. Biobanking is
a complex subject matter that is not obviously and neatly
either public or private. The federal jurisdiction over
trade and commerce and the provincial jurisdiction over
health further complicate the matter. The complexity of
the legislative web may compel consideration of
biobank-specific legislation that could address the
complex privacy issues in a more direct and coherent way.
Table 10 summarizes the public opinion data relating to
issues of privacy.
Table 10 –
Summary of Public Opinion Data Relating to Issues of
Privacy
Public Concerns
|
Canada
|
-
Nearly 90% of Canadians regard genetic
information as being different from other
types of personal information and want to see
stricter rules for governing access to such
information (Einsiedel, p. 13, citing Pollara
and Earnscliffe, 2001)
-
Two-thirds of Canadians feel that genetic
information is “most private and
confidential” and they do not want
others to have access without consent
(Einseidel, p. 13, citing Canadian Medical
Association, 2000)
-
Concerns exist regarding donor anonymity,
records being used for research purposes and
the possibility of employers and insurance
companies obtaining and misusing the
information (Einseidel, p. 13, citing Canadian
Medical Association, 2000).
-
About 78% of Canadians polled agree that
doctors should have access to
genetic information for purposes of diagnosis
and therapy; 60 % think that provincial health
ministries should not have
access to genetic information; 87% think that
private insurance companies should
not have access to genetic
information; and 63% think that the police
should have access to genetic information to
solve crimes (Einseidel, p. 14, citing
Einsiedel, forthcoming).
-
About 7 in 10 Canadians think that legislation
to protect the privacy of health information
should apply to both public and private
sectors (Einseidel, p. 16, citing Canadian
Medical Association, 2000).
-
Most people (76%) presume that genetic
information produced in any test is preserved,
though they tend to think more of the
lab's premises than a data bank. Almost
60% think that is true of the actual sample of
blood or saliva as well (Pollara and
Earnscliffe, Genetic Privacy Issues,
p. 10).
-
Absent arguments about the benefits that might
be derived from the use of personal genetic
information, most Canadians default toward the
strict protection of genetic privacy (Pollara
and Earnscliffe, Genetic Privacy
Issues, p. 14).
-
Privacy is not the only priority Canadians
consider. They highly value health and medical
uses of genetic information. This is
particularly true with respect to the
development of cures for genetically based
diseases. Canadians are generally quite open
to research uses of genetic information
(Pollara and Earnscliffe, Genetic Privacy
Issues, p. 14).
-
Canadians are divided about whether genetic
information is fundamentally different from
health information, but they do expect access
to be more strictly regulated than other for
medical information (Pollara and Earnscliffe,
Genetic Privacy Issues, p. 9).
-
Canadians express widely differing views in
terms of comfort with different
groups/individuals having access to genetic
information. They express a high level of
comfort with doctors and medical researchers
having access and a low level of comfort with
insurance companies, employers and governments
including provincial health departments having
access to this information (Pollara and
Earnscliffe, Genetic Privacy Issues,
p. 107).
|
United Kingdom
|
-
Concerns about misuse of genetic information
by employers and insurers are adequately
addressed if information is provided about why
the information is useful, how it will be used
and the safeguards that are in place to guard
against unauthorized access (Einseidel, p. 13,
citing Human Genetics Commission, 2002).
|
United States
|
-
As a result of increasing concern among its
constituent publics, the U.S. Congress
introduced a rule requiring researchers using
tissue banks to obtain consent when using
individually identifying patient information
(Einseidel, p. 12, citing Uraneck, 2001).
-
Some 85% of Americans surveyed in 1995 were
“very concerned” or
“somewhat concerned” that insurers
and employers would gain access to and misuse
genetic information (Einseidel, p. 15, citing
Uraneck, 2001)
-
Fewer than 1 in 5 Americans considered the use
of medical records for medical research
without permission to be very acceptable;
fewer than 1 in 3 thought it unacceptable
(Einseidel, p. 15, citing Uraneck, 2001).
|
Professional Concerns
|
|
-
There is disagreement among professionals
about the conditions for confidentiality and
the viability of technical solutions to
provide answers (Einseidel, p. 30).
|
Summary: Privacy and Confidentiality
Privacy
-
At present, it appears that there exists no coherent
legal framework within which to appropriately
address health-related privacy issues that are
relevant to biobanking.
-
It is essential to gain an understanding of the
interaction between federal and provincial privacy
statutes relative to biobanking. Jurisdictional
issues between the federal power over trade and
commerce and the provincial power over health must
be reconciled.
-
The existing legislative framework is complex and
may compel consideration of biobank-specific
legislation that could address the complex privacy
issues.
-
There is an need to develop encryption,
anonymization and data sharing methods to ensure
security of data according to identified needs.78
Confidentiality
-
Physicians have a clear, common law duty, including
a fiduciary duty, to keep patient information
confidential (a duty that has been modified by
privacy legislation).
-
There are a number of exceptions to the duty of
confidentiality, such as those set out in health
information legislation. The most controversial
exception, however, is the “duty to
warn” third parties. Though emerging case law
and legislation lend support to the existence of the
duty, its scope remains uncertain.
-
Informed Consent and Communication of Research
Results
Individual Consent to Research
In Canada, to be valid, consent to medical treatment must
be specifically referable to the treatment to be given,
and it must be given voluntarily by a patient who has
capacity and is informed. If any one requirement fails to
be met, the consent is void. The consent requirements in
the context of clinical research are more onerous than for
medical treatment. The Nuremberg Code and the
Declaration of Helsinki and the Tri-Council
Policy Statement (TCPS) require that participants in
medical research provide voluntary informed consent prior
to participating in medical research. Importantly,
informed consent must be viewed as an ongoing process and
participants must be given adequate opportunities to
discuss and contemplate continuing participation.
Canadian courts have determined that research subjects are
entitled to a “full and frank disclosure of all the
facts, probabilities and opinions which a reasonable man
might be expected to consider before giving his
consent.”79 This
obligation requires that researchers must provide
information about potential risks (regardless of how
remote) as well as all material information about the
research protocol. In the context of clinical genetics
research, study participants must be apprised of the
potential for commercialization of research findings, the
mechanisms used to protect confidentiality of sensitive
information, the potential impact of participation on
one's insurability, their entitlement to withdraw
from participation in the study at any time and how (or
if) the study results will be made available to the
participant or the participant's physician. Appendix D provides a list, extracted from the
TCPS, of the types of information that should be conveyed
to potential research subjects.
Retrospective Research Involving Previously
Existing Collections
With respect to retrospective research on stored human
tissues and associated data, health information
legislation or other privacy laws typically provide an
exception to the general rule that informed consent is
required for research using personally identifiable health
information or tissue. For example, Alberta's
Health Information Act allows researchers to
access identifiable health information, including tissue,
without consent, under specific circumstances with
research ethics board approval.80 In reviewing the research
proposal, the research ethics board must consider whether,
among other things, the proposed research is of sufficient
importance to outweigh the public interest in protecting
privacy, and whether obtaining consent is unreasonable,
impractical or not feasible.
Despite this legislative weakening of the informed consent
requirement in the context of retrospective research,
Canadian law and developing international norms strongly
support the need for individual consent to prospectively
collect and store DNA samples and personal information in
a population genetics biobank.
Prospective Research
In Canada, strict application of existing law and policy
in the context of biobanking would demand that consent be
obtained at the time a sample is collected and again for
each new use of an identifiable DNA sample or associated
data in a biobank (Deschênes and Cardinal, p. 35,
citing Caulfield and Outerbridge). This requirement is
difficult to fulfil in the context of biobank research
where potential future uses are not known. The specific
degree of detail to fulfil informed consent requirements
in the context of population genetic research remains
speculative. The Human Genetics Commission has stated
that:
[t]he difficulties involved in tracing and securing
reconsent for different forms of medical research may make
obtaining fresh consent impractical and would seriously
limit the usefulness of large-scale population
databases.81
Similarly, using only anonymous samples or utilizing a
process to irreversibly anonymize samples would limit the
usefulness of the samples and resulting data. The value of
biobanks for future research is greatly enhanced if
mechanisms are used that protect the identity of research
participants while maintaining links to health information
and other data that can updated over time (Deschênes
and Cardinal, p. 28).
Commentators have questioned the appropriateness of the
legal norms governing consent in this setting. Caulfield
et al. cite cogent reasons why the traditional norms may
properly be considered too onerous in the context of
biobanks and population genetic research. 82 The reasons can be
summarized as follows:
-
The full spectrum of biotech research is difficult,
if not impossible to predict at the time consent is
obtained for sample collection.
-
The collection of DNA samples (typically through
venipuncture or buccal swab) involves little risk to
the individual participant.
-
Biobank research is not likely to provide
information that is of direct clinical relevance to
individual participants.
-
The value of individual samples in a biobank is
marginal; the value resides in the aggregate
collection and the ability to analyze in a multitude
of ways.
-
Repeat requests for individual consent from biobank
participants is burdensome to researchers and to
participants and may be a disincentive to
participation.
Various policy options have been suggested that alter the
informed consent requirement to a greater or lesser
degree. Table 11 provides a comparison of models of
consent, including fully informed consent,
“authorization model,” blanket consent,
presumed consent and waiver of consent.
Table 11 –
Comparison of Existing Consent Models
Consent Model
|
Features
|
Informed consent
|
-
Informed consent is required for the initial
collection of the biological sample and for
each subsequent new use in a research
protocol.
-
May be overly restrictive with respect to
future research.
-
Recontacting of patients/participants is
onerous and may not be desirable in certain
circumstances (e.g., when patient/research
participant is deceased).
|
Authorization model
(See Deschênes and Cardinal, pp. 16–17;
Yeo, p. 49)
|
-
Informed consent is required for the initial
collection of the biological sample.
-
Subsequent research is authorized (or not) by
the research participant at the time of the
initial sample collection.
-
Individuals can specify specific permitted or
excluded uses of their biological material and
associated data and can specify the degree of
subsequent decision-making authority they want
to maintain.
-
There is a possibility that individuals can
opt for a general “blanket
consent” but is never presumed by
researchers.
-
This model strikes a reasonable balance that
is supportive of individual autonomy and of
genetic research and is supported by the TCPS
(Article 8.6).
-
This model accords with public opinion.
|
Blanket consent
(Deschênes and Cardinal, p. 14)
|
-
One-time consent, wherein a research
participant consents to “research in
general.”
-
Too general to be afforded much legal weight,
a person cannot be held to have consented to
that to which he has given no consideration.
-
Not supported by public opinion: the public
has the expectation that rules governing
access to genetic information should be
strengthened.
-
Some argue that the principle of autonomy
supports the right of research participants to
give blanket consent to research; others argue
that blanket consent is no consent at all.
|
Presumed consent
|
-
Because a patient or research participant
donated a biologic sample for research and
because only a relatively small proportion of
individuals would want to reconsent, consent
to future uses can be presumed.
-
Presumed consent is problematic because of the
degree to which it undermines respect for the
individual participant and the right of the
individual to make informed decisions about
matters involving him or her.
-
Not supported by public opinion.
-
May be a justifiable presumption to permit
access to and use of existing collections of
human biologic materials that would otherwise
be of little value.
|
Waiver
|
-
Requirement for obtaining informed consent
from individuals to whom individually
identifying data or samples refer can be
waived by a research ethics board if (among
other things) the research poses no more than
minimal risk to the subjects (see TCPS, s
2.1(c); and see Alberta Health Information
Act, ss. 48–55).
-
Not supported by public opinion.
-
Some feel a waiver is justifiable to permit
access to and use of existing collections of
human biologic materials that would otherwise
be of little value.
|
With respect to the various options described in Table 11,
the authorization model appears to be the best option for
large-scale population genetic research. Implementation of
an authorization model of consent would, however, require
changes in the current regulatory and legislative
environment.
Research Involving Children
The proposed Canadian birth cohort study envisions the
enrolment of infants in a longitudinal population genetic
research protocol. In Quebec, pursuant to the Civil
Code,83 an incompetent
minor may participate in research with parental consent,
provided that the minor does not object and there is no
serious risk. In that province, population genetic
research involving children would require approval by a
research ethics board constituted or designated by the
Minister of Health and Social Services. The proposed
experiment “must have the potential to produce a
benefit to the health of the person concerned or, if it is
conducted on a group, to the health of the persons in the
same age group or having the same illness or handicap as
the persons submitted to the experiment.” In other
provinces, the legality of research involving children is
unclear.84 Further
consideration of this issue is required.
The TCPS anticipates that parents, as authorized
representatives of children, may consent to research on
behalf of the minor if the research does not expose the
minor to more than minimal risks without the potential for
direct benefits. 85 Infants and children may be
considered to participate in research when the research
question can be addressed using individuals within the
identified group(s) only. In the case of population
genetic research involving children, the argument has been
made that a lifelong birth cohort is necessary to study
the interaction between human genes and environmental
factors. If academic debate confirms the scientific merit
of this approach and if the law permits research on
children in this context, ethics would require that the
parent(s) or guardian(s) consent as the “authorized
representative” of the minor.
Population Consent
Although the notion of population consent is contentious
and difficult, if not impossible to implement, it is
important to inform and consult the population and to
consider public opinion (Deschênes and Cardinal, p.
8). Canadians ought to be consulted as to whether and in
what circumstances they would consider participating in a
national biobank initiative. Appropriate forums for
discussion must be established and supported by the
planners and funders of large-scale population genetic
initiatives (see Section 4.1).
Public Opinion Data
The most thorough research on the issue of consent has
been performed in the United Kingdom. Laws governing
consent in Canada are more onerous than those in the
United Kingdom and health law jurisprudence in this
country places greater emphasis on the principle of
autonomy.86 Though
these data provide a useful starting point, similar
studies must be performed in Canada (Einseidel, p. 44).
From the data on public opinion presented by Einsiedel, it
is clear that the publics feel strongly about the value of
informed consent for population genetic research.
Unanimously, all groups studied (general public, patient
groups, religious leaders, special interest groups and
professionals) held the opinion that informed consent is
crucial (Einseidel, pp. 11, 27). There is
particular concern is that that third parties (including
employers and insurance companies, law enforcement
agencies) may obtain access to biological samples and/or
associated data.
Strategies that have been suggested for dealing with
informed consent in the context of population genetic
research, including waiver of consent and blanket consent,
appear to be inconsistent with public opinion. Given the
need to foster and maintain public research in the area of
genetic research and the growing concerns about privacy
and confidentiality, it is necessary to glean insight into
the attitudes of Canadian publics toward biobanks.
Table 12 –
Summary of Public Opinion Data Relating to Issues of
Consent
Public Concerns
|
Canada
|
-
Fewer than 50% of Canadians think that health
information could be released to governments
and researchers without consent, provided that
identifying data have been removed (Einseidel,
p. 12, citing Canadian Medical Association
2000).
-
In focus groups, most people after discussion
are comfortable with researchers accessing
biobanks for a variety of studies, including
those that were not contemplated at the time
of consultation (Pollara and Earnscliffe,
Genetic Privacy Issues).
-
The consistent provisos are that people
provide informed consent (though only at first
instance, not at each different research use)
and that their identity be masked or stripped
away (although large numbers of people would
accept researchers having access to their
identity if it furthered the cause of medical
research and was not used inappropriately)
(Pollara and Earnscliffe, Genetic Privacy
Issues).
|
United Kingdom
|
-
About 9 in 10 people surveyed think that
consent should be required prior to blood or
tissue being used for genetic testing
(Einseidel, p. 12, citing Human Genetics
Commission, 2001).
-
Almost 9 in 10 feel that fresh consent should
be obtained before research is permitted on
existing samples (Einseidel, p. 12, citing
Human Genetics Commission, 2001).
-
Some members of the public see the fact that
no feedback will be given as problematic and
something that could pose a barrier to
participation (Einseidel, p. 13, citing
People, Science and Policy, 2002).
-
Donors should have the right to feedback on
anything that emerged from their own samples
(Einseidel, p. 13, citing Porter, 2000).
-
Some members of the public understand and
accept that feedback would not be provided to
individuals. Some think this would be
problematic and could pose a barrier to
participation (Einseidel, p. 13, citing
People, Science and Policy, 2002).
-
There is interest in receiving general
information on discoveries or developments
made from the research (Einseidel, p. 13,
citing Porter, 2000).
|
United States
|
-
More than 8 in 10 Americans consider the use
of patient records for medical research
without prior permission to be unacceptable
(Einseidel, p. 11, citing Institute for Health
Care Research and Policy, 1999).
-
While comfort levels increase if the
information is not linked to individual
patients, 1in 3 consider use of such
information “not at all
acceptable” without patient consent
(Einseidel, p. 11, citing Institute for Health
Care Research and Policy, 1999).
-
Most people would not object to research being
performed on samples to which demographic
information or medical history was linked
(Einseidel, p. 13, citing NBAC, 2000).
-
Individuals who are to be notified in the
event that medically helpful information is
discovered about them tend not to object to
the idea of research in which demographic data
are linked to stored tissue samples; they are
only slightly more concerned about links to
medical histories (Einseidel, p. 13, citing
NBAC, 2000).
|
Concerns of Professionals
|
United Kingdom
|
-
Health care professionals are generally
adamant that consent be obtained at point of
collection and for subsequent uses (Einseidel,
p. 27, citing Hapgood, 2001).
|
Canada
|
-
Researchers admit that information about
ownership, control, storage conditions and
sharing of samples between researchers is
often not shared with tissue donors (56% did
not specify ownership information; only 15%
specified storage duration; about 60% admit to
sharing samples with other researchers)
(Einseidel, p. 27, citing Verhoef et al.,
1995).
|
United States
|
-
Two-thirds of allied health professionals in
the U.S. support autonomy in situations where
subjects choose not to learn the results of
genetic testing; 29% would put limits on
autonomy when tested individuals refuse to
tell at-risk relatives of the results (Lapham
et al., 1997).
-
Some 95% of those polled think that permission
should be obtained before the release of
medical records to a national database; 93%
believe that researchers should obtain
permission to study an individual's
genetic information (Gallup, 2000).
|
Iceland
|
-
The Icelandic Medical Association warned the
Icelandic government that the interests of
patients were jeopardized by unacceptable
arrangements concerning informed consent
(Einseidel, p. 34, citing Icelandic Medical
Association, 2000).
|
United Kingdom
|
-
Health care professionals feel that the
concepts of risk and commercial gain are
inadequately explained in patient information
sheets and frequently treat DNA collection
from blood or tissue as incidental to the
research (Einseidel, p. 27, citing Rigby,
2001).
|
Summary: Informed Consent
-
It appears that individual informed consent has
become the de facto norm for prospective
population genetic research.
-
Obtaining informed consent is problematic in the
context of large-scale population genetic biobanks
to the extent that the future research uses of the
tissue and/or data to be derived therefrom are
unknown.
-
Informed consent must be viewed as an ongoing
process and it must be reaffirmed if significant
changes are made to the protocol or banking
conditions.
-
Implementation of large-scale population genetic
research requires a reassessment of the current
normative framework governing informed consent.
-
Legislating an “authorization model” of
informed consent is worthy of consideration in the
specific context of prospective population genetic
research.
-
Participants in population genetic research must be
able to withdraw their consent to participate.
Procedures must be in place to facilitate withdrawal
of all data that are personally identifying or that
are capable of being personally identifying.
-
If Canada wishes to embark on a large-scale
population genetic initiative involving minors, the
legality of consent by authorized representatives in
this context must be established.
-
Details of feedback must be determined at the outset
of population genetic research and communicated to
research participants.
-
Out of respect for the subject population, research
results must be publicly shared; results should be
shared in a timely and diligent manner.
-
The use of previously existing collections of human
biological materials for genetic research without
individual consent is possible in limited
circumstances.
-
Individual participants must be aware of the risk
(if any) that law enforcement agencies (or others)
may obtain access to data and samples before giving
consent and before samples are taken.
-
Commercialization
Despite calls for public consultation and deliberation
over whether or not Canada should embark on a large-scale
population genetic biobank initiative, the presumption is
that the current proposal of the Canadian Institutes of
Health or a similar initiative will inevitably proceed.
Given this reality, we are obliged to consider how to best
to manage real and perceived conflicts of interest and how
the effects of commercialization and the rapid
dissemination of clinically useful genetic innovations can
be facilitated in a manner that best accords with the
public interest and results in the greatest possible
benefit to society.
Increasingly the distinction between the private and
public sectors is blurred in the area of biomedical
research. All of the authors of the previously
commissioned papers highlight the issue of
commercialization as being potentially problematic in the
context of population genetic research. Specific concerns
include the following:
-
commodification of the human body
-
ownership of human biological materials and
associated data
-
academic secrecy
-
skewing of the research agenda from basic research
to the development of commercializable end products
-
premature implementation of new technologies in the
marketplace (i.e., before the clinical, ethical,
legal and social issues have been appropriately
considered)
-
potential adverse effects of patents (and other
forms of intellectual property) on patient access to
new technologies.
Private industry will play a critical role in the
translation of the information derived from the Human
Genome Project into tangible products and procedures that
will benefit individuals and society. The private sector
funds a great deal of research and relieves academic
researchers of mundane and repetitive research. It
performs the tightly controlled independent studies that
are required for drug and medical device approval
processes. Although private industry contributes more to
genetic research in terms of funding than do governments,
it is recognized that government research frequently gives
industry a jump-start on the path to commercialization.
The role of public sector funding in the commercial
process must not be marginalized.
The public sector's increasing dependence on private
enterprise to fund and participate in basic, translational
and clinical research provides new opportunities for
conflicts of interest to arise (Deschênes and
Cardinal, p. 26; Yeo, p. 18; Einseidel, p.17). There are
concerns, for example, that private industry will place
inappropriate limitations on the academic freedom of
publicly funded clinical researchers, that researchers
will become less collaborative and will be less inclined
to share data with colleagues and the wider research
community, that the focus of biomedical research will be
skewed away from basic research to what is likely to be
commercializable, and that the growing dependence of
academia on industrial partners is likely to have an
adverse impact on public trust. The related and ongoing
debate over the ethical appropriateness of gene patenting
and stem cell patenting has not abated. There is a real
risk that overemphasis on commercial efforts will
undermine science, scientists, the fruits of research and
the medical profession.
Public opinion data suggest that, although the public
generally supports biotechnology and the development of
the biotech sector, there are serious reservations about
certain aspects of commercialization and ownership of
human genetic material (Einseidel, p. 17). For example,
among Canadians there is a deep resistance to the idea of
biobanks selling genetic data to others doing research,
even with consent (Pollara and Earnscliffe, Genetic
Privacy Issues, 2003). It is thought that this
implies more a judgment against the role of profit in
association with health care than a considered decision
about the particular circumstances. Public opinion data
from Canada and abroad suggests that the public generally
lacks trust in corporate responsibility in the
biotechnology field and that it trusts researchers less if
they are collaborating with industry. The issue of trust
is particularly relevant and must be addressed if a
large-scale population genetic initiative is to be
commenced.
Table 13 –
Key Issues That Have Arisen over Commercial Involvement
in Biobank Projects
Iceland
|
Serious concerns have been raised over the grant of
an exclusive licence to deCODE
Genetics to exploit the Health Sector Database for
profit. This situation highlights the clear need to
clarify, at the outset, the purpose and principles
that underlie any large-scale population genetic
initiative. Public consultation is essential in
defining the purpose and principles if the project
is to inspire trust in the public.
|
UK Biobank
|
Consultation in the United Kingdom revealed public
concerns over any commercial
involvement in Biobank. People generally feel that
databases should not be owned by commercial
interests and that products developed through the
initiative should be publicly owned (Einseidel, pp.
15–16). This situation highlights the need to
develop liberal access mechanisms for researchers,
sharing of research results and transparent
benefit-sharing mechanisms to ensure direct and
obvious public benefit.
|
DNA Sciences Inc.
|
The “Gene Trust” was established by DNA
Sciences through the solicitation of volunteers over
the Internet. A sample repository of more than
10 000 samples and associated data was
established. It was recently sold to Genaissance
Pharmaceuticals in a deal whereby DNA Sciences sold
substantially all of its assets to Genaissance to
avoid bankruptcy. This situation highlights a
critical need to examine mechanisms in corporate law
that could be used to protect donor participants
(e.g., legal trust).
|
Tonga
|
The Tongans effectively opposed the creation of a
biobank and patenting of their genetic resources by
Autogen because they felt that the benefits promised
(including free drugs and royalties) were
insufficient in light of what Autogen stood to gain
(Deschênes and Cardinal, p. 24). This
situation highlights the need to include the public
in negotiations over benefit sharing to make sure
that they feel a fair deal has been reached. It also
reflects a need to consider tying royalties to
future commercial success so that a population would
gain proportionately and appropriately from a future
blockbuster product.
|
Deschênes and Cardinal (p. 26–27) aptly point
out that the creation and exploitation of population
genetic biobanks in Canada requires careful consideration
of the following questions:
-
Can the commercialization of products and services
developed from population genetic research be
simultaneously promoted and aligned with the best
interests of society?
-
Who can or should own or control a population
genetic biobank?
-
How should the interests of the Canadian population
be represented in any commercial agreements that
flow from biobanking?
-
Is there an emerging legal obligation that would
require Canada to incorporate benefit sharing into
population genetic initiatives?
-
How might benefit-sharing arrangements be
implemented in the Canadian context?
Where populations or communities contribute to research
projects and where profits ultimately accrue to a
commercial entity (or entities), it is appropriate to
consider whether and how profits and other benefits should
be shared with the participant community. Benefit-sharing
arrangements, if carefully considered, provide a key
mechanism for establishing and maintaining public trust in
the context of population genetic initiatives. It is very
clearly ethically mandated and there is evidence of an
emerging legal requirement in international law.87 The HUGO Ethics Committee
Statement on Benefit Sharing discloses potential
mechanisms that may be used to effect benefit sharing
between sponsor companies and communities that participate
in population genetic research.
Benefit sharing should not be viewed as contrary to the
existing intellectual property regime nor as a mechanism
to curb commercial involvement in genetic research.
Rather, benefit sharing should be considered as a
mechanism (or rather a spectrum of mechanisms) to balance
the commercial interests with those of research
participants in a way that is both respectful and
reflective of the relative contributions to the research
endeavour.
Table 14 provides an overview of types of monetary
and non-monetary benefits that may be included in
benefit-sharing agreements.
Table 14 –
Monetary and Non-monetary Benefits That May Be
Incorporated into Benefit-sharing
Agreements
Monetary Benefits
|
Non-monetary benefits
|
-
Access fees
-
Royalties
-
Licence fees
-
Joint ownership of intellectual property
rights
|
-
Sharing of information
-
Research collaboration, joint ventures
-
Technology transfer agreements
-
Human resources development
-
Provision of health care
-
Development of information infrastructures
-
Social recognition
|
Sharing arrangements will depend heavily on the parties
involved and the social, cultural and political
particularities of the situation. Governmental,
non-governmental or academic institutions and indigenous
and local communities may be included in sharing
arrangements. The situation in both Iceland and Tonga
highlight the reality that benefit-sharing arrangements
should be carefully constructed to adequately address
concerns of the subject population. Failure to do so may
result in total failure of the project. Mechanisms to
review the contractual terms, including monetary payments,
can be addressed at the outset. Appropriate dispute
resolution mechanisms should be carefully considered.
Table 15 –
Summary of Public Opinion Data Relating to Issues of
Commercialization
Public Concerns
|
United Kingdom
|
-
There is a general sense that medical
databases should not be owned by commercial
interests (Einseidel, p. 15, citing Human
Genetics Commission, 2000).
-
About 3 in 4 people feel that new products
developed using genetic information should be
publicly owned (Einseidel, p. 16, citing Human
Genetics Commission, 2000).
|
Canada
|
-
Some 7 in 10 are of the opinion that
legislation designed to protect privacy of
health information should be applicable to
both public and private sectors (Einseidel, p.
16, citing Canadian Medical Association,
2000).
-
Canadians have shown high support for the
mapping of the human genome and increasing
support for the idea of patenting (Einseidel,
p. 17, citing Pollara and Earnscliffe, 1999).
-
Half of respondents are not comfortable with
the idea of patents on higher life forms
(Einseidel, p. 18, citing Pollara and
Earnscliffe, 1999).
-
Principles of equality and access to new
products should guide the commercial process
(Einseidel, p. 18, citing Pollara and
Earnscliffe, 1999).
-
Half of respondents think there is joint
ownership of the genetic information between
themselves and the organization that
administered the test (Pollara and
Earnscliffe, Genetic Privacy Issues).
-
Some 43% of respondents think the biological
samples are their property alone (Pollara and
Earnscliffe, Genetic Privacy Issues).
-
There is a deep resistance to the idea of
biobanks “selling” genetic data to
others doing research, even with consent. This
appears to be more a view of the role of
profit in health care than it is a considered
decision about the particular circumstances.
For instance, few have factored in the cost of
gathering and storing the data when they
consider the issues (Pollara and Earnscliffe,
Genetic Privacy Issues).
|
Japan
|
-
Support for patenting drops as the focus
shifts from new plant and animal varieties to
patenting existing plant, animal and human
genes (Einseidel, p. 17, citing Macer, 1992).
|
Sweden
|
-
There are ethical concerns associated with the
commercialization of genetic information
(Einseidel, p. 18, citing Hoyer, 2002).
-
While the public is comfortable with the
commercialization of “information
technology,” they are less comfortable
with the idea of commercializing “gene
technology” (Einseidel, p. 18, citing
Hoyer, 2002).
|
Tonga
|
-
Autogen's proposal to establish a health
database in Tonga using the population's
genepool sparked outrage among human rights
and church organizations (Einseidel, p. 32,
citing Burton 2002).
|
Professional Concerns
|
United Kingdom
|
-
Issues around the increasing numbers of links
being established between public and private
sectors around genetic databases have been
flagged (Einseidel, p. 36, citing Human
Genetics Commission, 2000).
-
A commercial market for human DNA and genetic
data is well under way (Einseidel, p. 36,
citing Martin, 2000).
|
Summary: Commercialization
Commercialization Generally
-
The objective of population genetic research is to
develop new drugs and treatments for human diseases.
The private sector will inevitably be involved in
the process; the accrual of intellectual property
rights is inevitable.
-
As part of the informed consent process, research
participants must be informed about the potential
future commercialization of their biological
materials and of the results of research.
-
It is imperative that population genetic research
and the associated commercialization process proceed
in a manner that is both cognizant and protective of
the physician–patient and
researcher–participant relationships.
-
The potential exists that for-profit or
not-for-profit corporations that exist separately
from publicly funded related research institutions
may hold biological samples and associated data. It
is important, therefore, that procedures concerning
bankruptcy and voluntary winding up of these
entities be addressed to ensure that biological
samples and sensitive medical history do not become
“assets” that may potentially be
distributed among creditors or shareholders.
Access to Biobank Resources
-
Access to biobank resources by researchers (both
public and private) must depend on appropriate
scientific and ethical review of proposed research.
-
Researchers from Canada and abroad should have
liberal access to biobank data that has been
accumulated through publicly supported initiatives.
-
Publicly supported population genetic biobanks
should be mandated to enable as much research as
possible, including research into common and rare
disorders.
-
Population genetic biobanks should aim to facilitate
research that will ultimately benefit both the
subject population and the global community.
Benefit Sharing
-
The interests of the participating population and
the general population must be considered separate
and apart from commercial interests. To this end the
interests of the population should be represented in
commercial agreements.
-
Benefit-sharing arrangements should be prospectively
incorporated into the overall design of biobank
initiatives. The public should be consulted on the
issue of benefit sharing.
-
Benefit sharing should be considered as a mechanism
(or rather a spectrum of mechanisms) to balance the
commercial interests with those of research
participants in a way that is both respectful and
reflective of the relative contributions to the
research endeavour.
-
Governance
Governance refers to “those processes by which human
organizations, whether private, public or civic, steer
themselves.”88
The governance issues that arise in the context of
biobanking are complex and broader than those inherent in
“health research involving human subjects.”
This is because biobanking involves the interaction of
private entities in a realm that is traditionally
considered “public.” Issues of corporate
governance and corporate ethics are therefore highly
relevant. In the context of biobanking, governance issues
arise in and between organizations, including public and
private institutions, sponsor companies, regulatory
agencies, research ethics boards, researchers, research
participants and the general public. The governance of
biobanks is important for many reasons, not least of which
because it plays a key role in ensuring accountability and
in building and maintaining public trust.
Michael Yeo argues convincingly that large-scale biobanks
are more akin to business organizations than to research
entities as traditionally conceived and that the existing
legal and ethical framework governing research is
inadequate. The norms of research and research ethics have
been developed narrowly and do not adequately consider the
privacy and consent challenges that arise in the context
of biobanking. Numerous commentators have called for
stronger privacy protection and changes to the
requirements for informed consent for future research on
samples and associated data contained in biobanks (Yeo, p.
16). Additionally, biobanking, even if construed strictly
as a research tool, differs markedly from other types of
research involving human subjects. Modifications to the
current legal and ethical regime or the development of a
separate regulatory regime are inevitably required. This
argument is bolstered when the commercial exploitation of
biobanks is brought into the fray. The pressing question
is whether the currently available governance tools
— the law, policy and ethical norms — can
adequately address the concerns arising from biobanking:
Are these tools sufficiently adaptable to the biobanking
context, or do further tools — legislation,
regulations, policy statements specific to biobanks
— need to be developed?
Public opinion data suggest that the public understands
the importance of ethical governance systems in genetic
research, an area that is viewed as being central to the
future of medical research. This is demonstrated by the
public's recognition of the importance of a
collaborative effort involving government and the
scientific community in developing an appropriate
governance regime (Pollara and Earnscliffe, Genetic
Privacy Issues, p. 14). Generally speaking,
individuals do not want to choose between genetic research
and protection of privacy. Rather surprisingly, if forced
to choose, slightly more people emphasize research than
privacy protection (Pollara and Earnscliffe, Genetic
Privacy Issues, p. 14). It appears that the more
people learn about genetic research and biobanking, the
more likely they will conclude that the benefits of the
research outweigh the risks involved. This does not mean
that there is an unconditional acceptance of the free use
of genetic information. Rather, the public wants to see a
demonstrable link between the substance of the initiatives
and the benefits to be derived. Without this link, the
default position is that of strict privacy protection. If,
however, the public is shown that there is impetus to
improve governance and to address concerns about potential
abuses or misuses of genetic information, public trust and
confidence is enhanced. These data point strongly to the
importance of public consultation and education on issues
surrounding large-scale population genetic research.
There exists an opportunity for Canadian biobank planners
to learn from the challenges faced during the development
of other large-scale biobank initiatives. The experience
of the Medical Research Council (MRC) in the United
Kingdom is particularly instructive and should be closely
examined so Canadian planners avoid similar criticisms. If
Canada does embark on a large-scale population genetic
database involving children, the planners must, on an
inclusive and ongoing basis, engage scientists and other
stakeholders in the process. In the first instance, it is
necessary to address anticipated challenges to the
scientific methodology and anticipate that criticism will
be directed at the nature of the development process
itself. It is advisable to consider whether a peer review
process might be effectively employed to ensure
objectivity and independence in the project development
process.
Regardless of the degree of reform that is deemed
necessary, large-scale biobanking clearly requires the
development of an accountable regulatory framework that
incorporates the legal and ethical norms governing human
subject research and the evolving ethical norms of
corporate governance.
Table 16 depicts, schematically representation, an
overview of the complex governance environment in which
biobanks operate in Canada.
Table 16 –
Overview of the Governance Environment in Which
Biobanks Operate in Canada
Professional Responsibility
|
Professional and Scientific Norms
Universal Declaration of Human Rights (UN)
Declaration of Helsinki (WMA)
|
Science
|
Medicine
|
Various professional codes promoting: honesty,
integrity, protection of the public interest,
academic freedom, data sharing, peer review
(etc.).
(Canadian Information Processing Society)
(Canadian Council of Professional Engineers)
(Chemical Institute of Canada)
|
Hippocratic Oath
(Provincial Colleges of Physicians and Surgeons)
(Canadian Medical Association)
(National Specialist Societies)
|
Law
|
Policy
|
Ethics
|
Charters of Rights and Freedoms
Federal:
-
privacy acts (public sector, private sector)
-
CHRA Bill of Rights
Common law:
-
privacy/
-
confidentiality
-
consent
-
fiduciary law
|
Provincial/ territorial statutes:
-
privacy (public sector, private sector,
health)
-
hospitals
-
human tissue
-
cancer registries
-
public health
-
statistics
-
provincial charters and human rights acts
|
Federal:
-
Tri-Council Policy Statement
-
funding strategies
-
(CIHR guidelines*)
Provincial/territorial:
-
provincial policy statements
-
university and hospital policy statements
|
Canada:
-
Tri-Council Policy Statement
-
Statement of Principles on the Ethical Conduct
of Human Genetic Research Involving Human
Populations
|
International Law:
-
Convention on Human Rights and Biomedicine
-
Convention on Biological Diversity (by
analogy)
|
|
International:
-
International Ethical Guidelines for
Biomedical Research Involving Human Subjects
(CIOMS)
-
Universal Declaration on the Human Genome
(UNESCO)
-
HUGO Statement on the Ethical Conduct of
Genetic Research
-
HUGO Statement on Benefit-sharing
-
Statement on Databases (WMA)
-
(Emerging norms of corporate ethics)
|
Biobank-specific Policies And Procedures
|
(Biobank-specific guidelines for research ethics
boards*)
|
Table 17 –
Summary of Public Opinion Data Relevant to Governance
Issues
Public Concerns
|
United Kingdom
|
-
Participants stress the importance of
regulations governing collection, storage, use
and disposal of samples, and preferred
oversight of these processes by an independent
body (Einseidel, p.8 citing Portal et al,
2000).
|
Canada
|
-
Canadians default toward the strict protection
of genetic privacy but they afford high
positive value to health and medical uses of
their information (Pollara and Earnscliffe,
Genetic Privacy Issues, p. 14).
-
Canadians are quite open to research uses of
their genetic information (Pollara and
Earnscliffe, Genetic Privacy Issues,
p. 14).
-
When it comes to regulatory and ethical
governance systems, more Canadians (56%)
believe that the medical and research
community should play the main role in
determining priorities and procedures than
believe the government should (41%) (Pollara
and Earnscliffe, Genetic Privacy
Issues, p. 14).
-
Canadians believe that government should set
legislation, but think the research and
medical community are more expert and closer
to the situation on the ground. Canadians want
a strongly collaborative effort involving
government and the scientific/medical
communities (Pollara and Earnscliffe,
Genetic Privacy Issues, p. 14).
-
Canadians support for a regime that balances
the strict protection of personal genetic
information with facilitating access to such
information to gain important corollary
benefits (Pollara and Earnscliffe, Genetic
Privacy Issues, p. 14).
-
Public support for a governance regime
requires consistent linkage between the
substance of initiatives and the benefits to
be derived, the default position (i.e., strict
protection of privacy) comes into play
(Pollara and Earnscliffe, Genetic Privacy
Issues, p. 14).
-
Knowledge and discussion about genetic
research and genetic privacy increases the
conviction that the benefits of facilitating
access to genetic information outweigh the
drawbacks (Pollara and Earnscliffe,
Genetic Privacy Issues, p. 14).
-
The more people know about genetic research
and biobanks, the more likely they are to
consider that the benefits outweigh the risks;
those who are likely to hear about the issues
early and engage are more enthusiastic about
the benefits of genetic research (Pollara and
Earnscliffe, Genetic Privacy Issues,
p. 14).
-
Focus group research suggests that, once
people are given a sense that those
responsible for governing these issues are
thinking about them and working to improve
their governance, concerns about potential
abuse or misuse abate and interest in gaining
the benefits increases (Pollara and
Earnscliffe, Genetic Privacy Issues,
p. 14).
-
An overwhelming number of Canadians (96%) see
genetic research as very (67%) or somewhat
(29%) central to the future of medical
research (Pollara and Earnscliffe, Genetic
Privacy Issues, p. 93).
-
Most Canadians (73%) exhibit a willingness to
allow personal genetic information to be used
in medical research (the percentage rises if
one's identity is stripped from the
database) (Pollara and Earnscliffe,
Genetic Privacy Issues, p. 95).
-
Concerns exist regarding donor anonymity,
records being used for research purposes and
the possibility of employers and insurance
companies obtaining and misusing the
information (Einseidel, p. 13, citing Canadian
Medical Association, 2000).
|
Summary: Governance
-
“Biobanking” is an amorphous endeavour
that cuts across numerous scientific and medical
disciplines. It will require innovative governance
strategies and further refinement of the governance
environment.
-
Conflicts and inconsistencies that exist in the
governance framework must be identified and
appropriately addressed.
-
The management structure of biobanks must be
accountable and the commercial aspects of biobanking
must be transparent not to undermine public support
for such endeavours.
-
Professional responsibility is reflected in the
ethical and professional norms of the scientific
disciplines and the norms of medical practice.
Biobanking will require a novel multidisciplinary
conception of professional responsibility.
-
Law (provincial, national and international), policy
statements (federal, provincial/territorial and
institutional) and numerous relevant ethical
statements are relevant in the governance of
biobanks and ought to be carefully considered in the
development of biobank-specific policies and
procedures.
-
Biobank-specific policies and procedures must
clearly define, among other things (Yeo, pp.
19–20):
-
the precise contents of the biobank, including
specimens (e.g., tissue, blood, cells or the
DNA samples derived therefrom), DNA sequence
data, demographic information, health
information and other linked information
-
specimen and data collection procedures,
including the terms of consent granted by
participants
-
the extent to which individuals can be
identified from the biobank data
-
the rules and procedures by which access to
biobank contents is granted to researchers
-
the safeguards in place to protect the
interests of those whose information is held
(including security, oversight and
accountability provisions)
-
the organizational structure and governing
rules of the biobank.
-
Research ethics boards urgently require guidance on
the legal and ethical issues associated with
biobanking.
-
Research ethics board approval must be obtained for
all proposed research protocols prior to recruitment
of participants in population genetic research:
-
they must be independent and multidisciplinary
and must include members of the participation
population
-
they should evaluate and monitor the
constitution of the biobank, review all
research projects and review requests for
access
-
to perform their function, they should be
aware of all contractual terms between
researchers and the biobank.
-
Issues of capacity, competence and independence of
research ethics boards must be addressed.
-
There is a need to create an independent
organization that would be responsible for project
oversight and surveillance.
-
There is a need to establish long-term monitoring
and periodic auditing of biobanks.
-
Summary of the Main Issues
There has been a paradigm shift in genetic research from
linkage analysis to large-scale population genetic
research. This leads to increasing societal importance in
ensuring that the ethical, legal and social issues are
addressed as the research develops. There is real cause
for optimism that society will reap profound benefits from
innovations stemming from this second phase of the Human
Genome Project. It is expected that population genetic
research will enable researchers to gain a better
understanding of the gene–environment interactions
implicated in complex human diseases, which in turn may
enable novel drug development strategies as well as the
development of novel diagnostic and predictive tests.
There is a need for rigorous scientific scrutiny and for
careful consideration of the relevant ethical, legal and
social issues. This summary will review the main issues
identified in this synthesis paper and to prioritize them,
where it is possible to do so.
In developing a strategy that will best meet the needs of
the Canadian public, the research community, private
industry and policy makers can draw from a wealth of
experience developed in other nations; Canada must proceed
cautiously and with an eye to the particularities of
Canadian society and the regulatory regime in which
biobanking is and will be situated.
At each step, it is important for policy makers to
recognize that population genetic research is made
possible through the participation of individual
volunteers who collectively comprise a
“population.” The contribution of this
population to the research is essential and, arguably, the
population must be recognized as a partner in the research
endeavour. It is from this presumption that the following
conclusions flow.
Public Education and Consultation
In the first instance, a transparent public education and
consultation strategy must be developed to determine
whether Canada should promote, as a
societal objective, the development of large-scale biobank
initiatives. Policy makers should not exclude the
possibility that Canada should not pursue large-scale
population genetic research initiatives. If, however,
Canada opts to pursue population genetic research after
carefully reviewing all the issues, ongoing consultative
strategies must be developed to ensure the continuing
relevance and acceptance of such initiatives. Consultative
strategies must be transparent and the results must be
incorporated into the relevant projects where it is
reasonable to do so. To this end, criticism that has been
levied against UK Biobank is instructive. Consultation
must not been seen as a “bolt-on activity to secure
support for a “politically driven project.”89 Developing an
appropriate education and consultation strategy will be
challenging. Careful thought must be given to the
development of an appropriate bundle of strategies that
will yield the best possible understanding of public and
stakeholder sentiment in the Canadian context. Appropriate
and sustained levels of funding must be allocated to
ongoing education and consultation.
Privacy and Confidentiality
Numerous factors make the issues surrounding privacy and
confidentiality particularly challenging, including rapid
developments in information technology, genetic research
and bioinformatics as well as the ongoing tension between
the desire to do beneficial health research and the need
to protect personal health information. The issue of
privacy is particularly complex. Specifically, there is no
coherent legal framework to appropriately address the
health-related privacy issues that are relevant in the
context of biobanking. A very high priority must be to
tackle these issues and to gain an understanding of the
interactions between existing and proposed federal and
provincial privacy statutes (and other potentially
relevant statutes) that are implicated in biobanking.
There is a possibility that careful analysis of the legal
framework may compel consideration of biobank specific
legislation that could more reasonably address specific
privacy issues.
At the safeguarding level, it is necessary to consider
whether appropriate mechanisms exist for encryption,
anonymization and sharing of data. It is also worth
considering, at a very early stage of project planning,
optimal strategies for data collection and storage to
ensure that accord with emerging international standards.
Informed Consent
In Canada, individual informed consent appears to be the
de facto norm for prospective population genetic
research. It is recognized that the inability of
researchers and biobank planners to predict all possible
future uses of human biologic materials and associated
data poses a challenge to the process of informed consent.
The implementation of large-scale population genetic
research requires a reassessment of the current normative
framework governing informed consent.
It must also be noted that population genetic research
involving minor subjects is ethically and legally fraught
with uncertainty. If Canada wishes to pursue the currently
proposed Lifelong Health Initiative or other similar
initiatives, it must address this issue.
Commercialization
A major objective of population genetic research is the
development of new drugs and treatments for human disease.
It is inevitable that private industry will be involved in
the process and that it will seek to accumulate
intellectual property rights over innovations. The
challenge is to effectively reconcile the needs of
industry with the needs of the broader research community
and with the populations that enable such research.
Numerous concerns arise in the context of the
commercialization of genetic research, not least of which
is the potential adverse effect on public trust. Though
the public is generally supportive of genetic research,
there is a real risk that overemphasis of the commercial
aspect will result in a backlash against population
genetic research and the commercial products developed as
a result of that research.
In developing a consultative strategy, Canada is well
advised to consider the development of innovative
public–private collaborations that involve a
“partnership” with the subject populations of
genetic research.
Benefit sharing is one such collaborative mechanism. It
should not be viewed as contrary to the existing
intellectual property regime nor as a mechanism to curb
commercial involvement in genetic research. Rather,
benefit sharing should be considered as a mechanism (or
rather a spectrum of mechanisms) to balance the commercial
interests with those of research participants in a way
that is both respectful and reflective of the relative
contributions to the research endeavour.
Governance
Governance issues for biobanks arise between organizations
and institutions (both public and private), sponsor
companies, regulatory agencies, research ethics boards,
researchers, research participants and the general public.
The governance of biobanks is critically important because
of the role it plays in ensuring accountability and in
building and maintaining public trust. The pressing
question is whether the currently available governance
tools — the legal, policy and ethical norms —
can adequately address the concerns arising in the context
of biobanks. Are the existing tools sufficiently
adaptable, or are other tools needed, including
legislation, regulations, and policy statements that are
specific to biobanks?
When considering the appropriateness of the current
governance framework, public concerns about commercial
involvement and the potential misuse of genetic
information cannot be underestimated. With the increasing
trend to the collection and use of genetic information,
the more likely it will be that instances of misuse will
occur. To assure the integrity of population genetic
research, reasonable steps must be taken to understand the
current governance framework and to consider ways to
strengthen the protections offered to research
participants and their families.
Though there is time to prospectively plan for large-scale
population genetic initiatives, the reality is that
research ethics boards urgently require guidance on the
legal and ethical issues associated with biobanking on a
smaller scale. Institutional and regional banks are being
established at an ever-increasing rate as the potential
value of genetic information is being realized. The
Tri-Council Policy Statement provides insufficient
guidance to research ethics boards that are asked to
review biobank projects.
Recruitment Strategies
Methods of recruiting participants into population genetic
research must be supported on scientific, legal and
ethical grounds. In addition, mechanisms for participant
recruitment must be developed that are specifically
referable to the Canadian health care system and to
patient behaviour within that system. Recruitment
strategies ought to focus on the fair distribution of the
benefits and burdens of population genetic research to the
entire population. This is difficult in Canada because of
the vast geographical size of the nation, the diversity of
the populations within Canada and the relatively small
population.
-
Overview of Large-scale Population Genetic Research
Initiatives
Characteristic
|
Icelandic Health Sector Database
|
UK Biobank
|
Estonian Gene Bank Project
|
Data collected
|
-
personal health information
-
genotype data
-
genealogical data
|
-
personal health information
-
genotype data
-
physical examination
|
-
personal health information
-
genotype data
-
genealogical data
|
Follow-up
|
|
-
Initial follow-up period is 10 years
|
|
Study size
|
-
270 000, including children and the deceased
|
-
500,000 adults aged 45–60 years
|
|
Interested parties
|
-
Icelandic government and deCODE Genetics
|
-
Wellcome Trust/Medical Research Council
|
-
Eesti Geenivaramu and eGeen Inc.
|
Consultation
|
-
extensive post facto debate (local and
international)
|
-
in progress, though limited to date
|
-
extensive up-front consultation
|
Population support
|
-
initial support, but confidence eroded by opposition
pressure orchestrated by Icelandic scientists and
physicians
|
-
Biobank project was modified in light of
recommendations from members of public and health
care professionals
-
oversight body arose as a result of such
consultation
|
-
high level of population awareness and support for
the project
-
in August 2002, 76% of population knew of
project and only 2% were against it
|
Enabling legislation
|
-
act on a health sector database
-
act on biobanks
|
|
-
human genes research act
-
personal data protection act
-
databases act
|
Licensing strategy
|
-
exclusive licence granted to deCODE Genetics
|
-
publicly owned; non-exclusive licences to be granted
to researchers (public or private)
|
-
eGeen is the exclusive licensee that will finance
the project for the benefit of both parties
|
Recruitment
|
-
physicians provide encrypted information to deCODE
Genetics about potential participants; preliminary
genealogy analysis is performed
-
data are decrypted and returned to physicians who
then contact appropriate patients, explain the
research and obtain written consent
|
-
physicians in participating medical centres contact
their patients, explain the research and obtain
written consent from individuals who want to
participate
|
-
physicians contact their patients, explain the
research and obtain written consent from individuals
who agree to participate
|
Access
|
-
Ministry of Health
-
commercial subscription
-
special access for Icelandic researchers?
|
-
individuals have a legal right to access their
personal data.
-
any use of material from the study by commercial
organizations is subject to approval by the
Scientific Management Committee and the overseeing
body and must conform to relevant ethical and legal
requirements
|
-
only the gene donor or that person's physician
can access personalized information about the gene
donor.
-
state agencies
|
Consent
|
-
informed consent is obtained to access an
individual's health record and to collect DNA
samples
-
act on biobanks requires that biological samples be
obtained for clearly defined purposes but gives
board of the biobank the power to authorize use for
purposes other than those for which samples were
originally collected
|
-
participants must “provide written consent to
enable follow-up through NHS registers, their
general practice and other medical records, for
permission to use their data and blood samples for
various analyses and specified and unspecified
biochemical and genetic tests and for permission to
recontact”
|
-
written informed consent is given by participants to
have tissue sample, health information and genealogy
entered in the Gene Bank in a coded form
-
specified uses include genetic research, public
health research and statistical purposes that are in
conformity with the law
-
minor can be a gene donor if guardian is informed.
-
consent may be withdrawn at any point up until
sample is coded
|
Right of withdrawal
|
-
donor may request destruction of his or her
biological sample at any time
-
data obtained and included in analysis prior to
destruction of sample will not be destroyed
|
-
not stated in draft protocol dated February 14,
2002
|
-
participants can request destruction of all data
that can be decoded
|
Feedback of results
|
-
research findings are published on the deCODE
Genetics Web site
|
-
participants receive feedback on measures taken
during physical examination
-
information about progress of research will be
available to all participants through newsletters,
Web-based media and peer-reviewed publications
|
|
Oversight and surveillance
|
-
Data Protection Commission, National Bioethics
Committee
-
dedicated bodies: monitoring committee;
interdisciplinary ethics committee
-
Monitoring Committee is statutorily mandated to
ensure that the HSD is operated in accordance with
the law
|
-
independent oversight body, including lay
membership, to oversee the workings of UK Biobank to
conduct research activities and perform audits to
ensure that data collected are used responsibly and
within terms of consent obtained from participants
|
-
Estonian Genome Project Foundation is chief
processor
-
chief processor must enter contract with authorized
processors (eGeen) or gene researchers by which
terms are set for storage, security measures,
procedures for copying, distributing or destroying
samples
-
separate supervisory board and scientific advisory
board
|
Ethics approval
|
-
all research protocols must be submitted to the
National Bioethics Committee; it must monitor
progress of the research and may stop research that
goes beyond bounds of the protocol or is otherwise
unethical
-
Interdisciplinary Ethics Committee has the power to
monitor ongoing research and to stop research that
is not conducted in an appropriate manner
|
-
not referenced in draft protocol dated
February 14, 2002
|
-
science committee to advise on matters of scientific
validity of research carried out with gene bank
-
consultative ethics committee oversees processing
procedures of gene bank
|
Benefit sharing
|
-
deCODE Genetics to provide Iceland a share of annual
profits obtained from running database; profits to
be used to promote health services, research and
development
-
Icelandic medical records facilities to computerized
at deCODE's expense.
-
Icelandic government has full access to HSD
-
pursuant to sub-license with Hoffman-LaRoche,
Icelanders will receive free drugs that are
developed using HSD for patent term
|
-
return of research result to biobank in exchange for
use of samples
|
-
Estonian Genome Project Foundation holds a stake in
eGeen Inc.
|
Current status
|
|
-
interim advisory group established; meets regularly
and advises MRC on approaches to the project
-
pilot studies to be conducted prior to commencement
of main study
|
-
pilot study completed in October 2002
-
main project commenced in spring 2003
|
-
Excerpts from the Government Response to the Work of the
Medical Research Council Report by the House of Commons Science
and Technology Select Committee
Recommendation 30: We appreciate the
difficulties in projecting the long-term running costs of
Biobank at this stage but we are reassured to see that the issue
is being actively considered now (para. 54).
and
Recommendation 31: The Biobank is an
exciting project and we commend the MRC's efforts to
ensure that the United Kingdom is taking the lead in harvesting
the fruits of the human genome. We are concerned, however, that
funds were allocated to the project before the scientific
questions over its value and methodology were fully addressed
(Para 57). [Governance]
-
Government response: The Government
endorses the Committee's commendation of the MRC in
ensuring that the United Kingdom continues to take a lead
in harvesting the fruits of the human genome research.
Unanimity is rare among the scientific community for a
major project. One of the reasons that the project has
taken so long to bring to fruition (the first joint
meeting held by the MRC and Wellcome Trust for scientists
wishing to assist in development of the concept was in
1998) is that the funders have engaged scientists and
other stakeholders on an inclusive basis from every stage.
Now that the “hub” and “spokes”
responsible for collection and analysis of samples and
data have been selected, work will continue on
finalization of a business plan and protocol and these
will be widely disseminated.
Recommendation 32: It is not clear to us
that Biobank was peer-reviewed and funded on the same basis as
any other grant proposal. Our impression is that a scientific
case for Biobank has been put together by the funders to support
a politically driven project (para. 58). [Governance]
and
Recommendation 33: We recommend that the
MRC publish the comments of Biobank's peer reviewers
anonymously to build confidence that the project is fully
justified and supported by the scientific community (para. 59).
[Governance]
-
Government response: The idea of the
Biobank was first raised by scientists and the project was
peer reviewed. However it would not have been appropriate
to review the project “like any other grant
proposal.” It is designed as a national resource for
future research projects which cannot yet be specified in
detail (though there will of course be peer review of
these). The joint peer review procedure used by the
funders (DH, Wellcome Trust and the MRC) involved
predominantly international experts as it was agreed that
this was the best way of ensuring objectivity and
independence and avoiding conflicts of interest.
The Government accepts the integrity of the peer review
operated by the funders in relation to the UK Biobank
project. Reviewers' comments cannot be published as
they were sought in confidence by funders in the normal
way. Peer reviewers' comments are currently exempt
from the Freedom of Information Act disclosure
requirements which take effect in 2005. Any changes to the
current practice on peer review would need to be
discussed, agreed and implemented consistently by all the
research councils and other stakeholders.
Recommendation 34: We believe that fully
informed consent is an essential requirement for participation
in Biobank. The MRC may have good grounds for not adopting the
Human Genetics Commission's guidelines on consent for
Biobank but it should state clearly what its position is and, if
it disagrees with them, explain why (para. 60). [Informed
consent]
-
Government response: The government
agrees that fully informed consent is paramount. Planning
for BioBank has always been on the basis that fully
informed consent is an essential requirement. The
discussions on consent in the Human Genetics Commission
report Inside Information are not guidelines but rather
general points to consider. These are consistent with the
principles for consent which the funders are developing
for BioBank, and with the guidelines developed by an
expert MRV Working Group on DNA collections, which was
published following wide consultation in 2000. In practice
therefore, the Human Genetics Commission's points
will indeed be followed.
Recommendation 35: We fear that the
project's long-term viability could be threatened if
Biobank's funders fail to adopt a more open approach and
engage not only the project's participants and
stakeholders but the wider public (para. 63). [Consultation]
and
Recommendation 36: It is our impression
that the MRC's consultation for Biobank has been a bolt-on
activity to secure widespread support for the project rather
than a genuine attempt to build a consensus on the
project's aims and methods. In a project of such
sensitivity and importance, consultation must be at the heart of
the process not at the periphery (para. 65). [Consultation]
-
Government response: The Government
recognizes that consultation forms a vital part of the
development of a project such as this. MRC and the other
funders are committed to continued wide consultation as
the project develops. The UK BioBank project is predicated
on the willingness of volunteers to participate —
broad public acceptance of the aims of the project is
therefore an essential part of its implementation.
Consultation with a wide range of stakeholders, including
the public, has been a fully integrated part of the
project planning over the last three years and this is one
of the reasons that the project has taken so long to bring
to fruition. Initiatives include:
-
informal consultation workshops with health
professionals (GPs, nurses, etc.) across the country
in 2001 and 2003
-
independent qualitative and quantitative research by
(different) consultants in 2000 and 2002, reports of
which have been published; the 2002 study was
followed up, partly at the suggestion of some focus
group participants, early in 2003 with further work
with those social groups that had been
underrepresented
-
an ethics consultation workshop in 2002, involving
ethicists and special interest groups; the report
has been published and has informed development of
the current draft ethics and governance framework on
which there will be further consultation in 2003
-
workshops for the wider research community wishing
to contribute to the development of the project (in
2001 and 2002)
-
presence at science festivals (e.g., BA, Cheltenham)
-
meetings with Human Genetics Commission including a
public forum in 2002
-
a parliamentary briefing in 2003.
Most of these consultations have indicated broad public
support for the Biobank concept. Comments on the ethics
and governance structure and on the scientific protocol
are being taken into account in developing the project
further.
The Biobank's communication and consultation
strategy over the next few months will focus in a number
of different areas. External consultants have been
commissioned by the funders to explore attitudes to the
proposed ethics and governance framework for the project.
In parallel, the funders will start to develop, with the
newly appointed CEO for Biobank, a longer-term
communications and consultation strategy for the project.
This will include communications and consultation work to
be done locally by the spokes with potential volunteers
and health professionals, to underpin final development
and piloting of the research protocol (a copy of the
current draft has been available on the Biobank Web site
since the summer of 2002). The CEO plans to appoint a
Communications Director for the project later this year.
Funders are also in the process of setting up a Public
Panel. This is a group of approximately 50 people who have
participated in previous consultation work commissioned by
the funders and who have expressed an interest in some
continued involvement.
Recommendation 37: The MRC appears to be
taking a sensible attitude toward industrial involvement in
Biobank. It must be made clear that all results will be in the
public domain but we recognize that if new therapies are to
arise from Biobank, industry's involvement is inevitable
and necessary (para. 66). [Commercialization]
Recommendation 38: We agree with the Human
Genetics Commission that Biobank's participants should be
represented on the independent oversight body or on
participants' panels at each regional centre. It is vital
that participants play an active role in the management of the
project (para. 69). [Governance]
-
Government response: The Government and
the MRC agree that volunteer participation in oversight of
the project would be helpful nationally and/or locally.
Details of the members of the oversight group will be made
public. This will mean that although the identity of the
volunteers and all data samples would be confidential,
volunteers who are on the oversight group may be
identifiable as volunteers. This would need to be
adequately explained and consent obtained.
Recommendation 39: The Human Genetics
Commission has recommended that the Government fund research
into the encryption techniques to ensure data security. We
support this view (para. 71). [Privacy and Governance]
-
Government response: Work is already
under way within the NHS' national IT programme
leading to the determination and establishment of reliable
and robust standards that will ensure the confidentiality
and security needs of NHS patient data are satisfied.
These new arrangements will include appropriate means to
anonymise, pseudoanonymise and encrypt patient data
according to identified and agreed needs and that are
suitable for patient data stored in databases or that is
communicated electronically between information partners.
The standards for achieving this security and
confidentiality will be piloted and validated within
arrangements for the NHS' national IT programme and
will be available to the MRC for adoption as required.
DH is working closely with government security authorities
including ‘The Central Sponsor for Information
Assurance' to ensure appropriateness of NHS methods
and to achieve alignment with government advice where
appropriate.
Recommendation 40: It is important that
participants in Biobank are aware of the risk that police could
obtain access to their data and samples before giving consent
and before samples are taken. The funders should monitor to what
extent this issue acts as a disincentive to participation (para.
72). [Privacy, Consent and Recruitment]
-
Government response: The Government
agrees that participants are made aware of this issue. The
position of the funders has been that police could not
search the database but that they could not refuse
specific access in the unlikely event of a court order.
When the issue of police access was explored during
consultation, people seemed accepting of this approach.
Recommendation 41: The MRC has a
distinguished history and can claim credit for the high status
of United Kingdom biomedical research. We commend it for
valuable work it undertakes to maintain that reputation.
Nevertheless, there is significant disquiet about the policies
and performance of the MRC from individual researchers and
organizations. We realize that we were unlikely to receive
submissions from people with no grievances but we have concluded
that those who have submitted evidence have legitimate concerns.
We have found evidence of poor financial management and poor
planning, with too many funds committed over long periods
leading to large numbers of top-quality grant proposals being
turned down. The MRC has introduced misguided strategies for its
research support that have discriminated against young
researchers and some disciplines. It has been guilty of
inconsistent and inadequate communications which have hampered
our ability to assess the MRC's performance and misled its
research community. Combined, these have harmed the reputation
of the organization and caused great resentment among and
inconvenience to the research community it is meant to be
supporting (para. 74).
-
Government response: The Government
welcomes the Committee's attempt, in this conclusion
to balance the MRC's continuing track record against
the complaints the Committee has received.
The MRC has an excellent track record and has shown in its
annual reports the MRC meets its mission as set out in
their Royal Charter.
While we agree that some areas of financial management and
planning could be improved, we believe that as a whole the
MRC is able to plan and control its expenditure, their
audited accounts have been approved by the NAO.
The Government does not agree that the MRC's
research strategies are misguided. The MRC's long
term strategies are developed by the MRC council, which
has representatives from the scientific and medical
communities, in consultation with a range of organizations
including the MRC research boards and Government
departments.
The Government has acknowledged throughout this response
the need to pay greater attention to communication with
the research community, and to evaluation of research
policy and strategy.
-
Summary of Canadian Privacy Legislation
Jurisdiction
|
Legislation (Bill) Covers:
|
Citation and Status of Bills as of July 31, 2003
|
Federal
|
public sector
|
Privacy Act, R.S.C. 1985, c. P-21.
|
|
private sector
|
Personal Information Protection and Electronic
Documents Act (PIPEDA), S.C. 2000, c.5.
Not applicable to private sector holdings or health
information until January 2004
|
British Columbia
|
public
|
Freedom
of Information and Protection of Privacy Act,
R.S.B.C. 1996, c. 165
|
|
private (bill)
|
Personal Information Protection Act –
Bill 38
-
introduced in legislature on April 30, 2003
-
received second reading on May 1, 2003
-
if passed, will come into force on January 1,
2004
|
|
tissue
|
Human
Tissue Gift Act, R.S.B.C. 1996, c. 211
|
Alberta
|
public
|
Freedom of Information and Protection of Privacy
Act, R.S.A. 2000, c. F-25
|
|
private (bill)
|
Personal Information Protection Act – Bill
44
-
introduced in legislature on May 14, 2003
-
if passed, will come into force on January 1,
2004
|
|
health
|
Health Information Act, R.S.A. 2000, c. H-5
|
|
tissue
|
Human Tissue Gift Act, R.S.A. 2000, c. H-15
|
Saskatchewan
|
public
|
The Freedom of Information and Protection of Privacy
Act, S.S. 1990-91, c. F-22.01
|
|
health
|
The Health Information Protection Act, S.S.
1999, c. H-0.021 (Bill 29)
-
received Royal Assent on May 6, 1999
-
not yet proclaimed into force
|
|
tissue
|
The Human Tissue Gift Act, R.S.A. 1978, c.
H-15
|
Manitoba
|
public
|
Freedom
of Information and Protection of Privacy Act,
C.C.S.M., c. F175
|
|
health
|
Personal Health Information Act, C.C.S.M., c.
P33.5
|
|
tissue
|
Human
Tissue Act, C.C.S.M. c. H180
|
Ontario
|
public
|
Freedom of Information and Protection of Privacy
Act, R.S.O 1990, c. F.31
|
|
tissue
|
Trillium Gift of Life Network Act, R.S.O.
1990, c. H.20
|
Quebec
|
public
|
An Act respecting access to documents held by public
bodies and the protection of personal
information, R.S.Q., c. A-2.1
|
|
private
|
An Act respecting the protection of personal information
in the private sector, R.S.Q., c. P-39.1
|
|
tissue
|
An Act respecting medical laboratories, organ, tissue,
gamete and embryo conservation, ambulance services and the
disposal of human bodies, R.S.Q. L- 0.2
|
|
tort
|
Civil Code of Quebec, S.Q. 1991, c. 64
|
Nova Scotia
|
public
|
Freedom of
Information and Protection of Privacy Act, S.N.S.
1993, c. 5
|
|
tissue
|
Human
Tissue Gift Act, R.S.N.S. 1989, c. 215.
|
New Brunswick
|
public
|
Protection
of Personal Information Act, S.N.B. 1998, c.
P-19.1
|
|
tissue
|
Human
Tissue Act, R.S.N.B. 1973, c. H-12
|
Prince Edward Island
|
public
|
Freedom
of Information and Protection of Privacy Act,
S.P.E.I. 2002, c. F-15.01
|
|
tissue
|
Human
Tissue Donation Act, S.P.E.I. c. H-12.1
|
Newfoundland and Labrador
|
public
|
Access
to Information and Protection of Privacy Act,
S.N.L. 2002, c. A-1.1
-
received Royal Assent on March 14, 2002
-
not yet proclaimed into force
|
|
tissue
|
Human
Tissue Act, R.S.N.L. 1999, c. H-15
|
Yukon
|
public
|
Access to Information and Protection of Privacy
Act, S.Y. 1995, c. 1
|
|
tissue
|
Human Tissue
Gift Act, R.S.Y. 1986, c. 89 (search for Yukon
statutes from this site)
|
Northwest Territories
|
public
|
Access to Information and Protection of Privacy
Act, S.N.W.T. 1994, c. 20
|
|
tissue
|
Human
Tissue Act, R.S.N.W.T. 1988, c. H-6 online:
Canadian Legal Information Institute (search for NWT
statutes from this site)
|
Nunavut
|
public
|
Access to Information and Protection of Privacy
Act (Nunavut), S.N.W.T. 1994, c. 20 as duplicated for
Nunavut by s. 29 of the Nunavut Act
|
|
tissue
|
Human
Tissue Act, R.S.N.W.T. 1988, c. H-6 as duplicated
for Nunavut by s. 29 of the Nunavut Act
|
-
Informed Consent: Information Relevant to Individual
Participants in Population Genetic Research
Articles 2.4 and 10.2 of the Tri-Council Policy Statement
(TCPS) on advise that research participants should be provided
with the following information about the research protocol(s) in
which they are asked to participate:
Article 24:
-
information that the individual is being invited to
participate in a research project;
-
a comprehensible statement of the research purpose, the
identity of the researcher, the expected duration and
nature of participation, and a description of research
procedures;
-
a comprehensible description of reasonably foreseeable
harms and benefits that may arise from participation, as
well as the likely consequences of non-participation,
particularly in research related to treatment, or where
invasive methodologies are involved, or where there is a
potential for physical or psychological harm;
-
an assurance that prospective subjects are free not to
participate, have the right to withdraw at any time
without prejudice to pre-existing entitlements, and will
be given continual and meaningful opportunities for
deciding whether or not to continue to participate; and
-
the possibility of commercialization of research findings,
and the presence of any apparent or actual or potential
conflict of interest on the part of researchers, their
institutions or sponsors.
Commentary
The commentary in the TCPS relating to Article 2.4 contains
a table listing “additional information that may be
required for some projects.” The following information is
directly relevant to biobank projects:
-
an assurance that new information will be provided to the
subjects in a timely manner whenever such information is
relevant to a subject's decision to continue or
withdraw from participation;
-
information on the appropriate resources outside the
research team to contact regarding possible ethical issues
in the research;
-
an indication as to who will have access to information
collected on the identity of subjects, descriptions of how
confidentiality will be protected, and anticipated uses of
data;
-
the ways in which the research results will be published,
and how the subjects will be informed of the results of
the research.
Article 10.2:
-
the type and amount of tissue to be taken, as well as the
location where the tissue is to be taken;
-
the manner in which tissue will be taken, the safety and
invasiveness of acquisition, and the duration and
conditions of preservation;
-
the potential uses for the tissue, including any
commercial uses;
-
the safeguards to protect the individual's privacy
and confidentiality;
-
identifying information attached to the specific tissue,
and its potential traceability; and
-
how the use of the tissue could affect privacy.
-
An Overview of International Statements Relating to
Privacy and Genetic Information
United Nations, Universal Declaration of Human Rights,
1948
|
Art. 12
|
No one shall be subjected to arbitrary interference with
his privacy, family, home or correspondence, nor to
attacks upon his honour and reputation. Everyone has the
right to the protection of the law against such
interference or attacks.
|
WMA, Declaration of Helsinki, 1964
|
Art. 2
|
It is the duty of the physician in medical research to
protect the life, health, privacy and dignity of the human
subject.
|
Art. 21
|
Every precaution should be taken to respect the privacy of
the [research] subject, the confidentiality of the
patient's information and to minimize the impact of
the study on the subject's physical and mental
integrity and on the personality of the subject.
|
HUGO Statement on the Principled Conduct of Genetic
Research, 1996
|
|
The HUGO–Ethical, Legal and Social Issues Committee
recommends “recognition of privacy and protection
against unauthorized access be ensured by the
confidentiality of the genetic information. Coding of such
information, procedures for controlled access, and
policies for the transfer and conservation of samples and
information should be developed and put into place before
sampling. Special consideration should be given to the
actual or potential interests of family members.”
|
Council of Europe, Convention on Human Rights and
Biomedicine, 1997
|
Art. 10(1)
|
Everyone has the right to respect for private life in
relation to information about his or her health.
|
Art. 10(2)
|
Everyone is entitled to know any information collected
about his or her health. However, the wishes of
individuals not to be so informed shall be observed.
|
UNESCO, Universal Declaration on the Human Genome, 1997
|
Art. 5(c)
|
The right of each individual to decide whether or not to
be informed of the results of genetic examination and the
resulting consequences should be respected.
|
Art. 7
|
Genetic data associated with an identifiable person and
stored or processed for the purposes of research or any
other purpose must be held confidential in the conditions
set by law.
|
CIOMS, International Ethical Guidelines for Biomedical
Research Involving Human Subjects, 2002
|
Guideline 18
|
The investigator must establish secure safeguards of the
confidentiality of subjects' research data. Subjects
should be told the limits, legal or other, to the
investigator's ability to safeguard confidentiality
and the possible breaches of confidentiality.
|
World Medical Association, Declaration on Ethical
Considerations Regarding Health Databases, 2002
|
s. 1
|
The right to privacy entitles people to exercise control
over the use and disclosure of information about them as
individuals. The privacy of a patient's personal
health information is secured by the physician's
duty of confidentiality.
|
RMGA, Statement of Principles on the Ethical Conduct of
Human Genetic Research Involving Human Populations, 2003
|
Art. 4
|
Mutual confidence between the researcher and the
population is essential to reciprocity. To respect this
confidence, the researchers should ensure the security and
the confidentiality of the population data.
|
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